Datasets:
ssunggun2
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mrqa_preprocessed

Dataset card Data Studio Files
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BioASQ
Using a rat model of L-DOPA-induced dyskinesia (LID), the contributions of dopamine D1 and D2 receptors to axial, limb, and orolingual (ALO) abnormal involuntary movements (AIMs) elicited by L-DOPA were examined. Chronic L-DOPA-treated rats received the D1 receptor antagonist SCH23390 (0.01, 0.1, and 1.0 mg/kg; i.p.), the D2 receptor antagonist Eticlopride (0.01, 0.1, and 1.0 mg/kg; i.p.), a mixture of both antagonists (0.01, 0.1, 1.0 mg/kg each; i.p.), or vehicle 30 min prior to L-DOPA (6 mg/kg; i.p.)+Benserazide (15 mg/kg; i.p.). SCH23390 (0.1 and 1.0 mg/kg) significantly reduced axial and limb AIMs, while the same doses of Eticlopride significantly decreased axial, limb, and orolingual AIMs. Co-administration of SCH23390+Eticlopride significantly reduced axial (0.01, 0.1 and 1.0 mg/kg), limb (0.1 and 1.0 mg/kg), and orolingual (0.1 and 1.0 mg/kg) AIMs. These results indicate the importance of D1 and D2 receptors to LID and further validate the rat AIMs model.
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cef4a7fbb56948418ee4895ae79c5294
Which drug is benserazide usually co-administered with?
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{ "text": [ "L-Dopa" ], "char_spans": [ { "start": [ 485, 21, 221, 191 ], "end": [ 490, 26, 226, 196 ] } ], "token_spans": [ { "start": [ 121, 5, 48, 41 ], "end": [ 123, 7, 50, 43 ] } ] }
[ "L-Dopa" ]
Which drug is benserazide usually co-administered with?
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BioASQ
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is caused by mutations in the NOTCH3 gene and is clinically characterized by recurrent stroke, cognitive decline, psychiatric disturbances and migraine. The prevalence of migraine in CADASIL is slightly higher than in the general population, and the proportion of migraine with aura is much higher. The pathophysiological mechanism that leads to increased aura prevalence in CADASIL is unknown. Possible mechanisms of the excess of migraine with aura are an increased susceptibility to cortical spreading depression (CSD) or a different expression of CSD. It is also possible that the brainstem migraine area is involved in CADASIL. Last, it is possible that the NOTCH3 mutation acts as a migraine aura susceptibility gene by itself. In this narrative review we summarize the literature about migraine in CADASIL, with a special focus on what CADASIL might teach us about the pathophysiology of migraine.
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56b8eb3015f747f78f3544b919c22c37
Which gene is involved in CADASIL?
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{ "text": [ "Notch3 gene" ], "char_spans": [ { "start": [ 131 ], "end": [ 141 ] } ], "token_spans": [ { "start": [ 18 ], "end": [ 19 ] } ] }
[ "Notch3 gene" ]
Which gene is involved in [MASK]?
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BioASQ
Mutations in the tyrosine kinase (TK) domain of the epidermal growth factor receptor (EGFR) gene in non-small cell lung cancers are associated with increased sensitivity of these cancers to drugs that inhibit EGFR kinase activity such as gefitinib and erlotinib. Responses to TK inhibitors in the absence of EGFR gene mutation for BAC patients have not been reported. A case of a patient with BAC refractory to chemotherapy who responded to gefitinib in the absence of EGFR gene mutations is reported. Tyrosine kinase inhibitors may have a role in BAC in the absence of EGFR gene mutations. Additional studies on other molecular alterations of the EGFR family members are needed to better predict response to these agents.
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edddbb8cad694d9a8b64e23dfb8292ba
Mutations in which gene determine response to both erlotinib and gefitinib?
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{ "text": [ "epidermal growth factor receptor (EGFR) gene" ], "char_spans": [ { "start": [ 52 ], "end": [ 95 ] } ], "token_spans": [ { "start": [ 11 ], "end": [ 18 ] } ] }
[ "epidermal growth factor receptor (EGFR) gene" ]
Mutations in which gene determine response to both erlotinib and gefitinib?
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BioASQ
Parkinson's disease (PD) and related Lewy body diseases are characterized by deposition of α-synuclein aggregates in both the central nervous system and peripheral nervous system. Synucleinopathy lesions spread to larger brain areas as the disease progresses, and prion-like cell-to-cell transmission of aggregated α-synuclein is thought to be the underlying mechanism for this pathological spreading. LRRK2 is another protein linked to the pathogenesis of PD, and its presence in Lewy bodies has attracted much attention as to whether LRRK2 and α-synuclein interplay during the pathogenesis of PD. However, the relationship between these two crucial proteins still remains unclear. In this review article, we will discuss the current state of knowledge in terms of how these proteins cause the disease and provide the hypothetical mechanisms by which LRRK2 might modify the generation and progression of synucleinopathy.
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ab5ce079faa34a7b97b77449fa304a3f
Which disease of the central nervous system is characterized by the presence of Lewy bodies?
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{ "text": [ "Parkinson's disease (PD)" ], "char_spans": [ { "start": [ 0 ], "end": [ 22 ] } ], "token_spans": [ { "start": [ 0 ], "end": [ 4 ] } ] }
[ "Parkinson's disease (PD)" ]
Which disease of the central nervous system is characterized by the presence of Lewy bodies?
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BioASQ
The current methods available to detect chromosomal abnormalities from DNA microarray expression data are cumbersome and inflexible. CAFE has been developed to alleviate these issues. It is implemented as an R package that analyzes Affymetrix *.CEL files and comes with flexible plotting functions, easing visualization of chromosomal abnormalities. CAFE is available from https://bitbucket.org/cob87icW6z/cafe/ as both source and compiled packages for Linux and Windows. It is released under the GPL version 3 license. CAFE will also be freely available from Bioconductor. sander.h.bollen@gmail.com or nancy.mah@mdc-berlin.de Supplementary data are available at Bioinformatics online.
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ab902c462f7c4599b28d61cef6b38d84
Which R package is used for the detection of chromosomal abnormalities from microarray data?
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{ "text": [ "CAFE" ], "char_spans": [ { "start": [ 520, 350, 133 ], "end": [ 523, 353, 136 ] } ], "token_spans": [ { "start": [ 79, 53, 18 ], "end": [ 79, 53, 18 ] } ] }
[ "CAFE" ]
Which R package is used for the detection of chromosomal abnormalities from microarray data?
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BioASQ
Probe-to-bone test and simple X-rays are both standard tests for the diagnosis of diabetic foot osteomyelitis. This study demonstrates the importance of considering jointly clinical information (probe-to-bone test) and diagnostic tests (simple radiography) to increase agreement among clinicians on diagnosis of diabetic foot osteomyelitis.
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117440db7a2441f29ff04ebe978b490f
Which disease can be diagnosed with the "probe to bone" test?
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[ "diabetic foot osteomyelitis" ]
Which disease can be diagnosed with the "probe to bone" test?
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BioASQ
A 65-year-old white man presented with all the clinical features of acrokeratosis paraneoplastica of Bazex, characterized by violaceous erythema and scaling of the nose, aural helices, fingers, and toes, with keratoderma and severe nail dystrophy. Examination of the patient for possible associated malignancy disclosed an asymptomatic squamous cell carcinoma at the oropharyngeal region. The skin lesions resolved almost completely following radiation therapy of the neoplasm, but the onychodystrophy persisted. This case report illustrates the importance of early recognition of Bazex syndrome.
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fecb8a65f2cf49afa3fcf85558513068
Name synonym of Acrokeratosis paraneoplastica.
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{ "text": [ "Bazex syndrome" ], "char_spans": [ { "start": [ 581 ], "end": [ 594 ] } ], "token_spans": [ { "start": [ 90 ], "end": [ 91 ] } ] }
[ "Bazex syndrome" ]
Name synonym of Acrokeratosis paraneoplastica.
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BioASQ
A 70 year old woman presented with a 6 year history of medically refractory severe tardive dystonia. After informed consent, a bilateral stereotactic electrode placement targeting the ventral intermediate thalamic nucleus (VIM) and the globus pallidus internus (GPi) was performed. After bilateral stimulation of the GPi, the patient showed a clear and stable improvement of the painful dystonic syndrome within hours. Stimulation of the VIM did not improve the hyperkinetic movements and simultaneous stimulation of both the GPi and the VIM did not result in any additional benefit. The possible pathophysiological mechanisms are discussed.
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a02c851b01e7465280df78b10bd835f5
Neurostimulation of which nucleus is used for treatment of dystonia?
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{ "text": [ "globus pallidus internus" ], "char_spans": [ { "start": [ 236 ], "end": [ 259 ] } ], "token_spans": [ { "start": [ 38 ], "end": [ 40 ] } ] }
[ "globus pallidus internus" ]
Neurostimulation of which nucleus is used for treatment of dystonia?
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BioASQ
Compression of the median nerve at the wrist, or carpal tunnel syndrome, is the most commonly recognized nerve entrapment syndrome. Carpal tunnel syndrome is usually caused by compression of the median nerve due to synovial swelling, tumor, or anomalous anatomical structure within the carpal tunnel. During a routine carpal tunnel decompression, a large vessel was identified within the carpal tunnel. The large vessel was the radial artery. It ran along the radial aspect of the carpal tunnel just adjacent to the median nerve. The unusual presence of the radial artery within the carpal tunnel could be a contributing factor to the development of carpal tunnel syndrome. In this case, after surgical carpal tunnel release, all symptoms of carpal tunnel syndrome resolved.
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f1a38a0735d74f2580015f818c2fe6de
What nerve is involved in carpal tunnel syndrome?
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{ "text": [ "median" ], "char_spans": [ { "start": [ 195, 19, 516 ], "end": [ 200, 24, 521 ] } ], "token_spans": [ { "start": [ 33, 3, 90 ], "end": [ 33, 3, 90 ] } ] }
[ "median" ]
What nerve is involved in carpal tunnel syndrome?
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BioASQ
During mitosis, Promyelocytic leukemia nuclear bodies (PML NBs) change dramatically in morphology and composition, but little is known about function of PML in mitosis. Here, we show that PML is phosphorylated at T409 (PML p409) in a mitosis-specific manner. More importantly, PML p409 contributes to maintain the duration of pro-metaphase and regulates spindle checkpoint. Deficient PML p409 caused a shortening of pro-metaphase and challenged the nocodazole-triggered mitotic arrest. T409A mutation led to a higher frequency of misaligned chromosomes on metaphase plate, and subsequently death in late mitosis. In addition, inhibition of PML p409 repressed growth of tumor cells, suggesting that PML p409 is a potential target for cancer therapy. Collectively, our study demonstrated an important phosphorylated site of PML, which contributed to explore the role of PML in mitosis.
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fb1932c2568743f8a7e02da6141a50f9
What is the effect of nocodazole cell treatment?
{ "tokens": [ "What", "is", "the", "effect", "of", "nocodazole", "cell", "treatment", "?" ], "offsets": [ 0, 5, 8, 12, 19, 22, 33, 38, 47 ] }
{ "text": [ "Mitotic arrest" ], "char_spans": [ { "start": [ 470 ], "end": [ 483 ] } ], "token_spans": [ { "start": [ 85 ], "end": [ 86 ] } ] }
[ "Mitotic arrest" ]
What is the effect of nocodazole cell treatment?
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BioASQ
Haploinsufficiency of the NSD1 gene due to 5q35 microdeletions or intragenic mutations is the major cause of Sotos syndrome characterized by generalized overgrowth, large hands and feet with advanced bone age, craniofacial dysmorphic features, learning disability, and possible susceptibility to tumors. Here, we report on a 14-month-old boy with a reverse phenotype of Sotos syndrome due to the reciprocal duplication of the 5q35.3 region, including the NSD1 gene, detected by array CGH. The phenotype includes delayed bone age, microcephaly, seizures, and failure to thrive. Our case suggests that the gene dosage effect of the NSD1 gene is the likely cause for the reversed phenotype of Sotos syndrome in this patient.
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4dacfcd587cf4e6f8eed4e508e7a454e
Which gene is responsible for the development of Sotos syndrome?
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{ "text": [ "NSD1 gene" ], "char_spans": [ { "start": [ 630, 455, 26 ], "end": [ 638, 463, 34 ] } ], "token_spans": [ { "start": [ 109, 75, 3 ], "end": [ 110, 76, 4 ] } ] }
[ "NSD1 gene" ]
Which gene is responsible for the development of Sotos syndrome?
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BioASQ
SMARCAL1 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily A-Like 1), also known as HARP, is an ATP-dependent annealing helicase that stabilizes replication forks during DNA damage. Mutations in this gene are the cause of Schimke immune-osseous dysplasia (SIOD), an autosomal recessive disorder characterized by T-cell immunodeficiency and growth dysfunctions. In this review, we summarize the main roles of SMARCAL1 in DNA repair, telomere maintenance and replication fork stability in response to DNA replication stress.
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94ca9bf4ee72459085a2b6464d531562
Mutations in which gene cause Schimke immune-osseous dysplasia?
{ "tokens": [ "Mutations", "in", "which", "gene", "cause", "Schimke", "immune", "-", "osseous", "dysplasia", "?" ], "offsets": [ 0, 10, 13, 19, 24, 30, 38, 44, 45, 53, 62 ] }
{ "text": [ "SMARCAL1 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily A-Like 1)", "HARP" ], "char_spans": [ { "start": [ 0 ], "end": [ 103 ] }, { "start": [ 121 ], "end": [ 124 ] } ], "token_spans": [ { "start": [ 0 ], "end": [ 20 ] }, { "start": [ 26 ], "end": [ 26 ] } ] }
[ "SMARCAL1 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily A-Like 1)", "HARP" ]
Mutations in which gene cause Schimke immune-osseous dysplasia?
[ -0.024119695648550987, -0.0018889306811615825, 0.0005280741024762392, -0.006623775698244572, 0.03886810690164566, 0.012054108083248138, 0.05606294423341751, -0.028985438868403435, 0.006934326607733965, -0.03874713182449341, -0.035675495862960815, -0.04913228750228882, -0.042438261210918427, ...
BioASQ
Protective protein/cathepsin A (PPCA) has a serine carboxypeptidase activity of unknown physiological function. We now demonstrate that this protease activity triggers the degradation of the lysosome-associated membrane protein type 2a (lamp2a), a receptor for chaperone-mediated autophagy (CMA). Degradation of lamp2a is important because its level in the lysosomal membrane is a rate-limiting step of CMA. Cells defective in PPCA show reduced rates of lamp2a degradation, higher levels of lamp2a and higher rates of CMA. Restoration of PPCA protease activity increases rates of lamp2a degradation, reduces levels of lysosomal lamp2a and reduces rates of CMA. PPCA associates with lamp2a on the lysosomal membrane and cleaves lamp2a near the boundary between the luminal and transmembrane domains. In addition to the well-studied role of PPCA in targeting and protecting two lysosomal glycosidases, we have defined a role for the proteolytic activity of this multifunctional protein.
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a636a925df634cada0c2d6964688e93a
Which is the receptor for substrates of Chaperone Mediated Autophagy?
{ "tokens": [ "Which", "is", "the", "receptor", "for", "substrates", "of", "Chaperone", "Mediated", "Autophagy", "?" ], "offsets": [ 0, 6, 9, 13, 22, 26, 37, 40, 50, 59, 68 ] }
{ "text": [ "LAMP2A" ], "char_spans": [ { "start": [ 628, 312, 580, 237, 491, 682, 727, 454 ], "end": [ 633, 317, 585, 242, 496, 687, 732, 459 ] } ], "token_spans": [ { "start": [ 109, 54, 102, 38, 87, 119, 126, 81 ], "end": [ 109, 54, 102, 38, 87, 119, 126, 81 ] } ] }
[ "LAMP2A", "Lysosome-associated membrane protein 2 isoform A" ]
Which is the receptor for substrates of Chaperone Mediated Autophagy?
[ 0.00011974006338277832, 0.015231487341225147, 0.028103817254304886, -0.0031341619323939085, 0.02680988609790802, 0.009982655756175518, 0.014532240107655525, -0.04280908405780792, -0.004131989553570747, 0.0036989895161241293, -0.014973774552345276, 0.033748477697372437, -0.051001355051994324,...
BioASQ
Stress signals elicit a wide variety of cellular responses, many of which converge on the phosphorylation of JNK and p38 kinases, the activation of which has been well-characterized. How these kinases are switched off by dephosphorylation is not well understood. Here we describe how diverse cellular stresses affect differently the stability and activity of a JNK-inactivating dual-specificity threonine-tyrosine phosphatase M3/6. Both anisomycin and arsenite activate the JNK pathway and, in addition, inactivate the M3/6 phosphatase. However, while anisomycin treatment of cells leads to M3/6 protein degradation, arsenite appears to inactivate M3/6 directly. These results might have implications for the mechanism of tumour promotion by arsenic.
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b7441dc6481f4a8c8ea767fe70d618bb
Which protein is affected by dusp8 activation?
{ "tokens": [ "Which", "protein", "is", "affected", "by", "dusp8", "activation", "?" ], "offsets": [ 0, 6, 14, 17, 26, 29, 35, 45 ] }
{ "text": [ "JNK" ], "char_spans": [ { "start": [ 474, 361, 109 ], "end": [ 476, 363, 111 ] } ], "token_spans": [ { "start": [ 79, 61, 18 ], "end": [ 79, 61, 18 ] } ] }
[ "JNK" ]
Which protein is affected by dusp8 activation?
[ -0.016022684052586555, -0.028945544734597206, 0.04357054457068443, 0.0271348487585783, 0.0026229978539049625, -0.00942316371947527, 0.023232918232679367, -0.03832745552062988, -0.024207724258303642, 0.004356488585472107, -0.009122463874518871, 0.001869293744675815, -0.05296441540122032, 0....
BioASQ
Phthiriasis palpebrarum is an uncommon cause of blepharoconjunctivitis in which Pthirus pubis infest the eyelashes. We report a case of unilateral phthiriasis palpebrarum with crab louse. A 45-year-old man presented with conjunctival hyperaemia and moderate itching associated with irritation, and crusty excretions of the eyelashes in the left eye. Careful slit-lamp examination revealed many lice and nits in left eye and mild conjunctival hyperaemia. No abnormality was found in the right eye. On dermatologic examination, only one louse was found at the pubic area. The patient was treated effectively with petrolatum jelly (Vaseline) and 1% permethrin shampoo (Kwellada 1% shampoo). At the end of the first week no louse or nit was present on eyelashes and pubic area.
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15635a9670bf475ab611b9b1921bbb96
What is the cause of Phthiriasis Palpebrarum?
{ "tokens": [ "What", "is", "the", "cause", "of", "Phthiriasis", "Palpebrarum", "?" ], "offsets": [ 0, 5, 8, 12, 18, 21, 33, 44 ] }
{ "text": [ "Pthirus pubis" ], "char_spans": [ { "start": [ 80 ], "end": [ 92 ] } ], "token_spans": [ { "start": [ 10 ], "end": [ 11 ] } ] }
[ "Pthirus pubis" ]
What is the cause of Phthiriasis Palpebrarum?
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BioASQ
Primary sinonasal intestinal-type adenocarcinomas (ITAC) are defined on the basis of their morphological similarities to colorectal adenocarcinomas (CRA). Thus, differential diagnosis with sinonasal metastasis of CRA could be a real challenge. Neuroendocrine differentiation has been variably described in several types of adenocarcinomas and notably in ITACs and CRAs. In a series of 25 ITACs and 25 lymph node metastasis of CRAs (nmCRA), we analysed neuroendocrine differentiation by immunohistochemistry with anti-chromogranin A and synaptophysin antibodies. Neuroendocrine differentiation (chromogranin A and/or synaptophysin positivity) was significantly different (p=0.0002) in ITACs (72%) and in nmCRAs (20%). In conclusion, presence of neuroendocrine cells seems more in favour of a sinonasal intestinal-type adenocarcinoma, than metastatic CRA. This immunohistochemical study could be useful in difficult cases and should be an interesting complement in a clinical discussion.
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ec272621cd3149a5b39e759406ab8844
Which cell type has the protein Chromogranin A as marker?
{ "tokens": [ "Which", "cell", "type", "has", "the", "protein", "Chromogranin", "A", "as", "marker", "?" ], "offsets": [ 0, 6, 11, 16, 20, 24, 32, 45, 47, 50, 56 ] }
{ "text": [ "neuroendocrine cells" ], "char_spans": [ { "start": [ 744 ], "end": [ 763 ] } ], "token_spans": [ { "start": [ 124 ], "end": [ 125 ] } ] }
[ "neuroendocrine cells" ]
Which cell type has the protein Chromogranin A as marker?
[ 0.0041867890395224094, 0.016280408948659897, 0.007554932497441769, -0.0009243303793482482, 0.025294208899140358, 0.012631556019186974, 0.024713514372706413, 0.0012143758358433843, -0.00966192688792944, 0.002818514360114932, -0.03384760022163391, -0.04087899997830391, -0.03154081106185913, ...
BioASQ
SET domain genes have been identified in numbers of bacterial genomes based on similarity to SET domains of eukaryotic histone methyltransferases. Herein, a Chlamydophila pneumoniae SET domain gene was clarified to be coincidently expressed with hctA and hctB genes encoding chlamydial histone H1-like proteins, Hc1 and Hc2, respectively. The SET domain protein (cpnSET) is localized in chlamydial cells and interacts with Hc1 and Hc2 through the C-terminal SET domain. As expected from conservation of catalytic sites in cpnSET, it functions as a protein methyltransferase to murine histone H3 and Hc1. However, little is known about protein methylation in the molecular pathogenesis of chlamydial infection. cpnSET may play an important role in chlamydial cell maturation due to modification of chlamydial histone H1-like proteins.
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bf4ddb3d39ae4a8ebc75f6c6b7218fbb
What is the characteristic domain of histone methyltransferases?
{ "tokens": [ "What", "is", "the", "characteristic", "domain", "of", "histone", "methyltransferases", "?" ], "offsets": [ 0, 5, 8, 12, 27, 34, 37, 45, 63 ] }
{ "text": [ "SET domain" ], "char_spans": [ { "start": [ 0, 458, 182, 343 ], "end": [ 9, 467, 191, 352 ] } ], "token_spans": [ { "start": [ 0, 76, 27, 54 ], "end": [ 1, 77, 28, 55 ] } ] }
[ "SET domain" ]
What is the characteristic domain of histone methyltransferases?
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BioASQ
Giant-cell tumor of bone is a rare, locally aggressive tumor that typically occurs in the bones of skeletally mature young adults in their second to fourth decades. Traditionally, surgery has been the mainstay of therapy for this disease, but the disease can recur even with optimal procedures. Furthermore, it may occur in locations where a surgical approach would be morbid. The maturation of the understanding of the role of the receptor activator of nuclear factor-κB ligand (RANKL) in the pathophysiology of giant-cell tumor of bone has led to the use of denosumab, a monoclonal antibody against RANKL, in this disease. In 2013, the US Food and Drug Administration approved denosumab for use in patients with recurrent/unresectable/metastatic giant-cell tumor of bone or for patients in whom surgery would be morbid.
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ce4f694e2894496cb11f3d96bd206a41
Which is the target of the drug Denosumab?
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{ "text": [ "receptor activator of nuclear factor-κB ligand", "RANKL" ], "char_spans": [ { "start": [ 432 ], "end": [ 477 ] }, { "start": [ 480, 601 ], "end": [ 484, 605 ] } ], "token_spans": [ { "start": [ 79 ], "end": [ 86 ] }, { "start": [ 88, 112 ], "end": [ 88, 112 ] } ] }
[ "receptor activator of nuclear factor-κB ligand", "RANKL" ]
Which is the target of the drug [MASK]?
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BioASQ
Lack of the yeast Rrm3p DNA helicase causes replication defects at multiple sites within ribosomal DNA (rDNA), including at the replication fork barrier (RFB). These defects were unaltered in rrm3 sir2 cells. When the RFB binding Fob1p was deleted, rrm3-generated defects at the RFB were eliminated, but defects at other rDNA sites were not affected. Thus, specific protein-DNA complexes make replication Rrm3p-dependent. Because rrm3-induced increases in recombination and cell cycle length were only partially suppressed in rrm3 fob1 cells, which still required checkpoint and fork restart activities for viability, non-RFB rrm3-induced defects contribute to rDNA fragility and genome instability.
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04968485f4484dcc9b26ebe6b289ca4e
What is the effect of the absence of Saccharomyces cerevisiae Rrm3p?
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[ "Lack of the yeast Rrm3p DNA helicase causes replication defects at multiple sites within ribosomal DNA (rDNA), including at the replication fork barrier (RFB)." ]
What is the effect of the absence of Saccharomyces cerevisiae Rrm3p?
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BioASQ
Restless legs syndrome (RLS)/Willis-Ekbom disease (WED) has a significant negative effect on quality of life. The decreased quality of life is similar to that of other chronic diseases, such as diabetes type 2, depression, and osteoarthritis. RLS/WED disrupts sleep length, sleep quality, and daytime alertness. Sleep disruption can contribute to depression. RLS/WED has been associated with cardiovascular disease and high blood pressure, possibly because of increased sympathetic tone caused by periodic limb movements of sleep. RLS/WED is underdiagnosed, leading to chronic sleep disruption and daytime consequences. Patients with RLS/WED have decreased productivity at work, which potentially has far-reaching economic consequences.
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f67084a71c774272be8ec7fc8baa5f52
Willis-Ekbom disease is also known as?
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[ "Restless legs syndrome" ]
Willis-Ekbom disease is also known as?
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BioASQ
Species-specific sets of chromosomes-karyotypes-are traditionally depicted as linear ideograms with individual chromosomes represented by vertical bars. However, linear visualization has its limitations when the shared collinearity and/or chromosomal rearrangements differentiating two or more karyotypes need to be demonstrated. In these instances, circular visualization might provide easier comprehension and interpretation of inter-species chromosomal collinearity. The chromDraw graphical tool was developed as a user-friendly graphical tool for visualizing both linear and circular karyotypes based on the same input data matrix. The output graphics, saved in two different formats (EPS and SVG), can be easily imported to and modified in presentation and image-editing computer programs. The tool is freely distributed under GNU General Public License (GPL) and can be installed from Bioconductor or from the chromDraw home page.
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9c678887061c48e688347d3c09889e6c
Which R package is used for visualization of linear and circular karyotypes?
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{ "text": [ "chromDraw" ], "char_spans": [ { "start": [ 916, 474 ], "end": [ 924, 482 ] } ], "token_spans": [ { "start": [ 147, 67 ], "end": [ 147, 67 ] } ] }
[ "chromDraw" ]
Which R package is used for visualization of linear and circular karyotypes?
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BioASQ
Although Gaucher disease is a rare disorder, recent developments in novel means for therapeutic intervention have invigorated both academic research and pharmaceutical industry discovery programmes. The common mutations found in the lysosomal enzyme deficient in Gaucher disease, beta-glucocerebrosidase, earmark these proteins for destruction by the endoplasmic reticulum-localised protein folding machinery, resulting in enzyme insufficiency, lysosomal glycolipid storage and subsequent pathology. However, many of these mutants can be rescued from global misfolding to preserve glycolipid substrate binding and eventual catalysis in the lysosome, by the addition of subinhibitory concentrations of pharmacologically active small molecules. This novel, chaperon-mediated approach has benefited from insights into the molecular understanding of beta-glucocerebrosidase structure, drug design and development in cellular models for disease.
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60b2647e211743f5a7666d2124d1686a
Which enzyme is deficient in Gaucher's disease?
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{ "text": [ "Beta glucocerebrosidase" ], "char_spans": [ { "start": [ 280, 846 ], "end": [ 302, 868 ] } ], "token_spans": [ { "start": [ 40, 123 ], "end": [ 42, 125 ] } ] }
[ "beta-glucocerebrosidase", "Beta glucocerebrosidase" ]
Which enzyme is deficient in Gaucher's disease?
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BioASQ
Non-vitamin K anticoagulants (NOAC) such as dabigatran have become important therapeutic options for the prevention of stroke. Until recently, there were only nonspecific agents to reverse their anticoagulant effects in a case of emergency. Idarucizumab, an antibody fragment targeting dabigatran, is the first specific antidote for a NOAC to be approved, but real-world experience is limited. We report two cases of patients on dabigatran with acute intracerebral hemorrhage who received idarucizumab. In both cases, idarucizumab promptly reversed the anticoagulant effect of dabigatran and there was no hematoma expansion in follow-up imaging. In addition to clinical and preclinical studies, our cases add to the experience regarding the safety and efficacy of idarucizumab. They show that idarucizumab may be an important safety option for patients on dabigatran in emergency situations.
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0f0142c6d85345b6ad31f47e1f7b98d4
Which drug can be reversed with idarucizumab?
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[ "dabigatran" ]
Which drug can be reversed with idarucizumab?
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BioASQ
The calcium-sensing receptor (CaSR) is a G-protein-coupled receptor that plays an essential role in maintaining calcium homeostasis. In the present study, we analyzed the CaSR gene in a Korean family with familial hypocalciuric hypercalcemia (FHH). Genetic studies were performed by direct sequence analysis of the CaSR gene in genomic DNA obtained from peripheral leukocytes. A novel heterozygous G to T substitution at nucleotide position 1711 in exon 6, resulting in the G571W mutation, was identified in the CaSR gene in a 26-year-old female with asymptomatic hypercalcemia, a low calcium/creatinine clearance ratio, and normal intact parathyroid hormone. To study CaSR expression, the mutation was introduced by site-directed mutagenesis into a wild-type (WT) CaSR-expressing pCR3.1 vector, and COS-7 cells were transfected with either the WT or mutant CaSR-containing vector. Transfected cells loaded with Fura-2/AM, a fluorescent indicator of Ca
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1f0adb77304f4c188ae40ccb27db4e56
What is the function of calcium-sensing receptor (CaSR)?
{ "tokens": [ "What", "is", "the", "function", "of", "calcium", "-", "sensing", "receptor", "(", "CaSR", ")", "?" ], "offsets": [ 0, 5, 8, 12, 21, 24, 31, 32, 40, 49, 50, 54, 55 ] }
{ "text": [ "The calcium-sensing receptor (CaSR) is a G-protein-coupled receptor that plays an essential role in maintaining calcium homeostasis." ], "char_spans": [ { "start": [ 4 ], "end": [ 130 ] } ], "token_spans": [ { "start": [ 1 ], "end": [ 24 ] } ] }
[ "The calcium-sensing receptor (CaSR) is a G-protein-coupled receptor that plays an essential role in maintaining calcium homeostasis." ]
What is the function of calcium-sensing receptor (CaSR)?
[ -0.017338493838906288, 0.027983956038951874, 0.044718969613313675, 0.0051999883726239204, 0.008649900555610657, -0.013542267493903637, 0.016635971143841743, -0.023541798815131187, 0.002147570950910449, 0.035575103014707565, -0.005647624377161264, 0.004357522819191217, -0.017003124579787254, ...
BioASQ
We have determined sequences of PCR-amplified B1 elements from hamster and rat (Myomorpha), chipmunk (Sciuromorpha), and guinea pig (Caviomorpha). Between three and six B1 subfamilies were found in these species. In the phylogenetic analysis B1 sequences of hamster, mouse, and rat clustered separately from those of chipmunk and those of guinea pig. This is consistent with an independent evolution of B1 elements in separate rodent lineages. We exclude the possibility of convergent mutations to explain certain diagnostic characters within the modern B1 quasi-dimers and view these elements as mosaic structures assembling preexisting mutations. Furthermore, the presence of Alu-like structural motifs supports the hypothesis of the monophyletic origin of Alu and B1 repeats, i.e., from a common 7SL RNA-derived retroposing monomeric element.
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e4f9aab09e074c42b56d239bd1ea6bf9
From which sequence does the Alu repeat originate from?
{ "tokens": [ "From", "which", "sequence", "does", "the", "Alu", "repeat", "originate", "from", "?" ], "offsets": [ 0, 5, 11, 20, 25, 29, 33, 40, 50, 54 ] }
{ "text": [ "7SL RNA" ], "char_spans": [ { "start": [ 799 ], "end": [ 805 ] } ], "token_spans": [ { "start": [ 140 ], "end": [ 141 ] } ] }
[ "7SL RNA" ]
From which sequence does the Alu repeat originate from?
[ 0.010385436937212944, 0.02056046389043331, 0.039050281047821045, -0.0016963183879852295, 0.009171168319880962, 0.029656192287802696, -0.016821058467030525, -0.029619988054037094, 0.006964381318539381, -0.016212966293096542, -0.01664351485669613, -0.022016119211912155, -0.013628889806568623, ...
BioASQ
A proteomic study predicted that about one hundred kinds of proteins constitute a basic structure of the centrosome. Most of the core centrosomal proteins contain extensive coiled-coil domains, suggesting that the protein-protein interaction is a critical force for the core centrosome configuration. In the present study, we investigated a novel interaction between CEP135 and C-NAP1, two core centriolar proteins. Depletion of CEP135 caused a premature centrosome splitting. Reduction of the centrosomal C-NAP1 level was accompanied in a specific manner. Ectopic expression of the CEP135 mutant proteins also caused centrosome splitting in association with the reduction of the centrosomal C-NAP1 levels. Based on these results, we propose that CEP135 acts as a platform protein for C-NAP1 at the centriole.
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ed3f5c3a0167499384a5f2031c714e92
Where in the cell do we find the protein Cep135?
{ "tokens": [ "Where", "in", "the", "cell", "do", "we", "find", "the", "protein", "Cep135", "?" ], "offsets": [ 0, 6, 9, 13, 18, 21, 24, 29, 33, 41, 47 ] }
{ "text": [ "centrosome" ], "char_spans": [ { "start": [ 618, 105, 455, 275 ], "end": [ 627, 114, 464, 284 ] } ], "token_spans": [ { "start": [ 104, 17, 77, 46 ], "end": [ 104, 17, 77, 46 ] } ] }
[ "centrosome" ]
Where in the cell do we find the protein Cep135?
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BioASQ
We examined the involvement of the Na(+)/Ca(2+) exchanger in the automaticity of the pulmonary vein myocardium with a specific inhibitor, SEA0400. Action potentials were recorded from the myocardial layer of isolated guinea-pig pulmonary vein preparations, and Ca(2+) transients were recorded from the cardiomyocytes. Spontaneous electrical activity was observed in 17.7% of the preparations, which was inhibited by either SEA0400 or ryanodine. In quiescent preparations, ouabain induced electrical activity and spontaneous Ca(2+) transients, which were inhibited by SEA0400, as well as ryanodine. These results provide pharmacological evidence that the Na(+)/Ca(2+) exchanger underlies the automaticity of the pulmonary vein myocardium.
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34ac789f67124c93ba8b76414c533807
The small molecule SEA0400 is an inhibitor of which ion antiporter/exchanger?
{ "tokens": [ "The", "small", "molecule", "SEA0400", "is", "an", "inhibitor", "of", "which", "ion", "antiporter", "/", "exchanger", "?" ], "offsets": [ 0, 4, 10, 19, 27, 30, 33, 43, 46, 52, 56, 66, 67, 76 ] }
{ "text": [ "Na(+)/Ca(2+) exchanger" ], "char_spans": [ { "start": [ 35, 654 ], "end": [ 56, 675 ] } ], "token_spans": [ { "start": [ 6, 107 ], "end": [ 9, 110 ] } ] }
[ "Na(+)/Ca(2+) exchanger", "NCX" ]
The small molecule [MASK] is an inhibitor of which ion antiporter / exchanger?
[ -0.009192485362291336, -0.0023202586453408003, 0.04308823496103287, -0.010471592657268047, 0.003483603009954095, -0.02146906964480877, -0.0019275814993306994, -0.06378217041492462, 0.016226530075073242, -0.02271878533065319, 0.012175287120044231, -0.0031368122436106205, -0.06109728664159775,...
BioASQ
With an ageing population and improving cancer therapies, the two most common benign and malignant bone diseases, osteoporosis and bone metastases, will continue to affect an increasing number of patients. Our expanding knowledge of the molecular processes underlying these conditions has resulted in novel bone targets that are currently being explored in clinical trials. Clearly, the approval of denosumab, a monoclonal antibody directed against RANKL, has just marked the beginning of a new era for bone therapy with several additional new therapies lining up for clinical approval in the coming years. Potential agents targeting the osteoclast include cathepsin K, currently in phase 3 trials, and src inhibitors. Amongst anabolic agents, inhibitors of the Wnt-inhibitor sclerostin and dickkopf-1 are promising in clinical trials. Here, we will provide a comprehensive overview of the most promising agents currently explored for the treatment of bone diseases.
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ba391f992ee74328aaba8df43265479c
To the ligand of which receptors does Denosumab (Prolia) bind?
{ "tokens": [ "To", "the", "ligand", "of", "which", "receptors", "does", "Denosumab", "(", "Prolia", ")", "bind", "?" ], "offsets": [ 0, 3, 7, 14, 17, 23, 33, 38, 48, 49, 55, 57, 61 ] }
{ "text": [ "RANKL" ], "char_spans": [ { "start": [ 449 ], "end": [ 453 ] } ], "token_spans": [ { "start": [ 71 ], "end": [ 71 ] } ] }
[ "RANKL" ]
To the ligand of which receptors does Denosumab (Prolia) bind?
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BioASQ
Lewy bodies and coarse Lewy neurites are the pathological hallmarks of degenerating neurons in the brains of patients suffering from Parkinson's disease (PD). Recently, the presynaptic protein alpha-synuclein was shown to be a major component of Lewy bodies and Lewy neurites. This study demonstrates for the first time that extensive and thin alpha-synuclein-immunoreactive inclusions are present in the axonal processes of neurons.
{ "tokens": [ "Lewy", "bodies", "and", "coarse", "Lewy", "neurites", "are", "the", "pathological", "hallmarks", "of", "degenerating", "neurons", "in", "the", "brains", "of", "patients", "suffering", "from", "Parkinson", "'s", "disease", "(", "PD", ")", ".", "Recently", ",", "the", "presynaptic", "protein", "alpha", "-", "synuclein", "was", "shown", "to", "be", "a", "major", "component", "of", "Lewy", "bodies", "and", "Lewy", "neurites", ".", "This", "study", "demonstrates", "for", "the", "first", "time", "that", "extensive", "and", "thin", "alpha", "-", "synuclein", "-", "immunoreactive", "inclusions", "are", "present", "in", "the", "axonal", "processes", "of", "neurons", "." ], "offsets": [ 0, 5, 12, 16, 23, 28, 37, 41, 45, 58, 68, 71, 84, 92, 95, 99, 106, 109, 118, 128, 133, 142, 145, 153, 154, 156, 157, 159, 167, 169, 173, 185, 193, 198, 199, 209, 213, 219, 222, 225, 227, 233, 243, 246, 251, 258, 262, 267, 275, 277, 282, 288, 301, 305, 309, 315, 320, 325, 335, 339, 344, 349, 350, 359, 360, 375, 386, 390, 398, 401, 405, 412, 422, 425, 432 ] }
62d0c93b45ca401ca522395ff2d09c8b
Which is the primary protein component of Lewy bodies?
{ "tokens": [ "Which", "is", "the", "primary", "protein", "component", "of", "Lewy", "bodies", "?" ], "offsets": [ 0, 6, 9, 13, 21, 29, 39, 42, 47, 53 ] }
{ "text": [ "alpha-synuclein" ], "char_spans": [ { "start": [ 344, 193 ], "end": [ 358, 207 ] } ], "token_spans": [ { "start": [ 60, 32 ], "end": [ 62, 34 ] } ] }
[ "alpha-synuclein", "α-synuclein", "αSyn" ]
Which is the primary protein component of Lewy bodies?
[ 0.029816750437021255, -0.0074481782503426075, 0.024698220193386078, 0.002295746933668852, 0.02635645680129528, 0.034134991466999054, 0.009833422489464283, -0.006942145060747862, -0.028565125539898872, -0.01999574340879917, -0.021294210106134415, -0.02486347407102585, -0.013664092868566513, ...
BioASQ
Many Prader-Willi syndrome (PWS) and Angelman syndrome (AS) patients have a cytogenetic deletion of 15q11q13. While AS and PWS share a similar cytogenetic anomaly, they have very different clinical phenotypes. DNAs from 4 AS patients were examined using 5 chromosome 15q11q13-specific cloned DNA segments. With the present level of resolution, the molecular deletions between AS and those previously reported for PWS did not appear to differ. However, in contrast to the paternal inheritance of the deleted chromosome 15 observed in the majority of PWS patients, maternal inheritance of the deleted chromosome 15 was demonstrated in the AS patients by restriction fragment length polymorphisms (RFLPs).
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0886b5bfb37f4842a63d965014d3b9fa
Angelman syndrome is associated with deletion of a part of Chromosome 15 but if the deletion occurs in the paternally inherited chromosome 15, what is the disease?
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{ "text": [ "Prader-Willi syndrome" ], "char_spans": [ { "start": [ 5 ], "end": [ 25 ] } ], "token_spans": [ { "start": [ 1 ], "end": [ 4 ] } ] }
[ "Prader-Willi syndrome" ]
Angelman syndrome is associated with deletion of a part of Chromosome 15 but if the deletion occurs in the paternally inherited chromosome [MASK], what is the disease?
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BioASQ
Christianson syndrome is an X-linked mental retardation syndrome characterized by microcephaly, impaired ocular movement, severe global developmental delay, hypotonia which progresses to spasticity, and early onset seizures of variable types. Gilfillan et al.2008] reported mutations in SLC9A6, the gene encoding the sodium/hydrogen exchanger NHE6, in the family first reported and in three others. They also noted the clinical similarities to Angelman syndrome and found cerebellar atrophy on MRI and elevated glutamate/glutamine in the basal ganglia on MRS. Here we report on nonsense mutations in two additional families. The natural history is detailed in childhood and adult life, the similarities to Angelman syndrome confirmed, and the MRI/MRS findings documented in three affected boys.
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75877e12360244ecaad667bb28813b4c
Mutation of which gene is implicated in the Christianson syndrome?
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{ "text": [ "SLC9A6" ], "char_spans": [ { "start": [ 287 ], "end": [ 292 ] } ], "token_spans": [ { "start": [ 44 ], "end": [ 44 ] } ] }
[ "SLC9A6" ]
Mutation of which gene is implicated in the Christianson syndrome?
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BioASQ
During the recent cloning of the mouse Lyst gene we developed both a high-resolution genetic map and a complete YAC and BAC contig of the Lyst critical region on mouse Chromosome 13. We also report the mapping of the human homologue of the mouse Lyst gene (LYST) to 1q43. These data are consistent with LYST being the gene for the human Chediak-Higashi Syndrome and strengthen the synteny relationship between MMU13 and human 1q43.
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d77f93b7ab7a49efbb741987986a7418
Which syndrome is associated with mutations in the LYST gene?
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{ "text": [ "Chediak-Higashi syndrome" ], "char_spans": [ { "start": [ 337 ], "end": [ 360 ] } ], "token_spans": [ { "start": [ 67 ], "end": [ 70 ] } ] }
[ "Chediak-Higashi syndrome" ]
Which syndrome is associated with mutations in the LYST gene?
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BioASQ
Dystrophic myotonia is a sufficiently rare disease inherited mainly by the autosomal dominant type. Clinical picture is characterized by the myotonic, myopathic, and endocrine-autonomic syndrome. A clinical, genetic, and electromyographic study was carried out to elucidate the problem of this condition inheritance, its intra- and interfamilial clinical polymorphism, and effects of environmental factors on its course and outcomes.
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52cd8f90006a41c999627c367f252ff3
How is myotonic dystrophy inherited?
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{ "text": [ "autosomal dominant" ], "char_spans": [ { "start": [ 75 ], "end": [ 92 ] } ], "token_spans": [ { "start": [ 11 ], "end": [ 12 ] } ] }
[ "autosomal dominant" ]
How is myotonic dystrophy inherited?
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BioASQ
INteractive Codon usage Analysis (INCA) provides an array of features useful in analysis of synonymous codon usage in whole genomes. In addition to computing codon frequencies and several usage indices, such as 'codon bias', effective Nc and CAI, the primary strength of INCA has numerous options for the interactive graphical display of calculated values, thus allowing visual detection of various trends in codon usage. Finally, INCA includes a specific unsupervised neural network algorithm, the self-organizing map, used for gene clustering according to the preferred utilization of codons. INCA is available for the Win32 platform and is free of charge for academic use. For details, visit the web page http://www.bioinfo-hr.org/inca or contact the author directly. Software is accompanied with a user manual and a short tutorial.
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9bd63fef68a04a01ba5834b3974db52c
Which tool employs self organizing maps for analyzing synonymous codon usage?
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[ "INCA" ]
Which tool employs self organizing maps for analyzing synonymous codon usage?
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BioASQ
Alpha-synuclein is phosphorylated at serine 129 (Ser129) in intracellular protein aggregates called Lewy bodies. These inclusion bodies are the characteristic pathologic lesions of Parkinson disease. Here we define the role of phosphorylation of Ser129 in alpha-synuclein toxicity and inclusion formation using a Drosophila model of Parkinson disease. Mutation of Ser129 to alanine to prevent phosphorylation completely suppresses dopaminergic neuronal loss produced by expression of human alpha-synuclein. In contrast, altering Ser129 to the negatively charged residue aspartate, to mimic phosphorylation, significantly enhances alpha-synuclein toxicity. The G protein-coupled receptor kinase 2 (Gprk2) phosphorylates Ser129 in vivo and enhances alpha-synuclein toxicity. Blocking phosphorylation at Ser129 substantially increases aggregate formation. Thus Ser129 phosphorylation status is crucial in mediating alpha-synuclein neurotoxicity and inclusion formation. Because increased number of inclusion bodies correlates with reduced toxicity, inclusion bodies may protect neurons from alpha-synuclein toxicity.
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7161d325e39f4f4884391fb5e3adb5db
Which residue of alpha-synuclein was found to be phosphorylated in Lewy bodies?
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{ "text": [ "Serine 129" ], "char_spans": [ { "start": [ 37 ], "end": [ 46 ] } ], "token_spans": [ { "start": [ 6 ], "end": [ 7 ] } ] }
[ "Serine 129" ]
Which residue of alpha-synuclein was found to be phosphorylated in Lewy bodies?
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BioASQ
The eukaryotic cell encounters more than one million various kinds of DNA lesions per day. The nucleotide excision repair (NER) pathway is one of the most important repair mechanisms that removes a wide spectrum of different DNA lesions. NER operates through two sub pathways: global genome repair (GGR) and transcription-coupled repair (TCR). GGR repairs the DNA damage throughout the entire genome and is initiated by the HR23B/XPC complex, while the CSB protein-governed TCR process removes DNA lesions from the actively transcribed strand. The sequence of events and the role of particular NER proteins are currently being extensively discussed. NER proteins also participate in other cellular processes like replication, transcription, chromatin maintenance and protein turnover. Defects in NER underlay severe genetic disorders: xeroderma pigmentosum (XP), Cockayne syndrome (CS) and trichothiodystrophy (TTD).
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ffeaee2811f94587ba59b0c3f1305a3a
Which gene strand is targeted by transcription-coupled repair (TCR)?
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{ "text": [ "the transcribed strand" ], "char_spans": [ { "start": [ 524 ], "end": [ 541 ] } ], "token_spans": [ { "start": [ 97 ], "end": [ 98 ] } ] }
[ "the transcribed strand" ]
Which gene strand is targeted by transcription-coupled repair (TCR)?
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BioASQ
Ehlers-Danlos syndrome denotes a group of inherited connective tissue diseases comprising nine types. Type IV Ehlers-Danlos syndrome is the most life-threatening form. It is characterized by a type III collagen deficiency resulting in arterial fragility and death from vascular rupture or bowel perforation. This disease involves a col 3A1 gene mutation. We report the case of a 44 year-old woman with type IV Ehlers-Danlos syndrome. The medical history of our patient included bowel necrosis and two vascular ruptures. We indicate data required to establish Ehlers-Danlos syndrome diagnosis and guidelines for patient management.
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549476d728754e0e979168d1b056eae7
What tissue is most affected in Ehlers-Danlos syndromes?
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{ "text": [ "connective tissue" ], "char_spans": [ { "start": [ 52 ], "end": [ 68 ] } ], "token_spans": [ { "start": [ 9 ], "end": [ 10 ] } ] }
[ "connective tissue" ]
What tissue is most affected in Ehlers-Danlos syndromes?
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BioASQ
The mammalian radiation has corresponded with rapid changes in noncoding regions of the genome, but we lack a comprehensive understanding of regulatory evolution in mammals. Here, we track the evolution of promoters and enhancers active in liver across 20 mammalian species from six diverse orders by profiling genomic enrichment of H3K27 acetylation and H3K4 trimethylation. We report that rapid evolution of enhancers is a universal feature of mammalian genomes. Most of the recently evolved enhancers arise from ancestral DNA exaptation, rather than lineage-specific expansions of repeat elements. In contrast, almost all liver promoters are partially or fully conserved across these species. Our data further reveal that recently evolved enhancers can be associated with genes under positive selection, demonstrating the power of this approach for annotating regulatory adaptations in genomic sequences. These results provide important insight into the functional genetics underpinning mammalian regulatory evolution.
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ce06b70fdbb149389828f705b0d6faaf
Are human enhancers or promoters evolving faster?
{ "tokens": [ "Are", "human", "enhancers", "or", "promoters", "evolving", "faster", "?" ], "offsets": [ 0, 4, 10, 20, 23, 33, 42, 48 ] }
{ "text": [ "enhancers" ], "char_spans": [ { "start": [ 742, 220, 410, 494 ], "end": [ 750, 228, 418, 502 ] } ], "token_spans": [ { "start": [ 119, 36, 65, 79 ], "end": [ 119, 36, 65, 79 ] } ] }
[ "enhancers" ]
Are human enhancers or promoters evolving faster?
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BioASQ
The authors reported a 73-year-old alcoholic man with previously-unrecognized situs inversus totalis suffering from left upper quadrant pain. Acute myocardial infarction was diagnosed and coronary angioplasty was performed immediately. However, the massive bleeding from the previously-unfound hepatomas caused hypovolemic shock and fatal outcome. Situs inversus totalis is a rare congenital anomaly with a complete mirror image of the thoracic and abdominal organs. Although being considered a benign entity, it would disturb diagnosis-making of the visceral diseases owing to the altered anatomy. To our knowledge, the coexistence of the coronary artery disease and ruptured hepatomas in situs inversus totalis, as in our patient, is never described. Recognition of any situs anomalies in time is the key to avoid misdiagnosis, inappropriate managements, and unwanted consequences.
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30297cdd9b004604bfbf3798dd6ebe86
What is situs inversus?
{ "tokens": [ "What", "is", "situs", "inversus", "?" ], "offsets": [ 0, 5, 8, 14, 22 ] }
{ "text": [ "Situs inversus totalis is a rare congenital anomaly with a complete mirror image of the thoracic and abdominal organs." ], "char_spans": [ { "start": [ 348 ], "end": [ 464 ] } ], "token_spans": [ { "start": [ 53 ], "end": [ 71 ] } ] }
[ "Situs inversus totalis is a rare congenital anomaly with a complete mirror image of the thoracic and abdominal organs." ]
What is situs inversus?
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BioASQ
While Clostridium difficile epidemiology is well documented in many European countries, data are largely missing for South Eastern European region. Here we report the PCR ribotype distribution of 249 C. difficile isolates received for typing from six hospital settings from Croatia, Bosnia and Herzegovina, Republic of Macedonia and Serbia in time period from 2008 to 2015. Twenty-four PCR ribotypes were detected. The majority of strains from Bosnia and Herzegovina and Serbia belonged to PCR ribotype 027 (65.8%). Other three dominating PCR ribotypes were 176 (18 strains; Croatia), 001/072 (15 strains; all countries) and 014/020 (15 strains; all countries).
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7bfea0506db945dca07567f46a77be7c
Which main ribotype of Clostridium difficile is responsible of the recent outbreak?
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{ "text": [ "Ribotype 027" ], "char_spans": [ { "start": [ 494 ], "end": [ 505 ] } ], "token_spans": [ { "start": [ 82 ], "end": [ 83 ] } ] }
[ "Ribotype 027" ]
Which main ribotype of Clostridium difficile is responsible of the recent outbreak?
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BioASQ
The enzyme telomerase is activated in 80-90% of all human malignancies and immortal cell lines, where it functions to maintain the integrity of chromosomal-end structures called telomeres. Telomerase enzyme activity can be detected in whole cell lysates by a polymerase chain reaction (PCR)-based method referred to as the telomeric repeat amplification protocol (TRAP). The TRAP assay involves extension of an oligonucleotide through telomerase-mediated enzymatic addition of telomeric DNA repeats and subsequent PCR amplification of the extension products. While the TRAP assay as originally developed utilizes radioactively labelled nucleotides, protocols are provided herein for nonradioactive versions of the TRAP assay, with options for either qualitative assessment of TRAP products by polyacrylamide gel electrophoresis (standard TRAP), or quantitative analysis by real-time PCR (Q-TRAP). The Q-TRAP method poses the additional advantages of exquisite sensitivity, rapidity, and potential for adoption to a high-throughput format.
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8076404cfda8488c9fbc09080b95dccf
What is the aim of the TRAP assay?
{ "tokens": [ "What", "is", "the", "aim", "of", "the", "TRAP", "assay", "?" ], "offsets": [ 0, 5, 8, 12, 16, 19, 23, 28, 33 ] }
{ "text": [ "Telomerase enzyme activity can be detected in whole cell lysates by a polymerase chain reaction (PCR)-based method referred to as the telomeric repeat amplification protocol (TRAP)." ], "char_spans": [ { "start": [ 189 ], "end": [ 367 ] } ], "token_spans": [ { "start": [ 34 ], "end": [ 61 ] } ] }
[ "Telomerase enzyme activity can be detected in whole cell lysates by a polymerase chain reaction (PCR)-based method referred to as the telomeric repeat amplification protocol (TRAP)." ]
What is the aim of the TRAP assay?
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BioASQ
The RNA editing enzyme ADAR chemically modifies adenosine (A) to inosine (I), which is interpreted by the ribosome as a guanosine. Here we assess cotranscriptional A-to-I editing in Drosophila by isolating nascent RNA from adult fly heads and subjecting samples to high throughput sequencing. There are a large number of edited sites within nascent exons. Nascent RNA from an ADAR-null strain was also sequenced, indicating that almost all A-to-I events require ADAR. Moreover, mRNA editing levels correlate with editing levels within the cognate nascent RNA sequence, indicating that the extent of editing is set cotranscriptionally. Surprisingly, the nascent data also identify an excess of intronic over exonic editing sites. These intronic sites occur preferentially within introns that are poorly spliced cotranscriptionally, suggesting a link between editing and splicing. We conclude that ADAR-mediated editing is more widespread than previously indicated and largely occurs cotranscriptionally.
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3b3c2659bbbc4cff90c610175d5dae05
Which is the major RNA editing enzyme in Drosophila melanogaster?
{ "tokens": [ "Which", "is", "the", "major", "RNA", "editing", "enzyme", "in", "Drosophila", "melanogaster", "?" ], "offsets": [ 0, 6, 9, 13, 19, 23, 31, 38, 41, 52, 64 ] }
{ "text": [ "ADAR" ], "char_spans": [ { "start": [ 896, 23, 376, 462 ], "end": [ 899, 26, 379, 465 ] } ], "token_spans": [ { "start": [ 158, 4, 71, 90 ], "end": [ 158, 4, 71, 90 ] } ] }
[ "ADAR", "adenosine deaminase, RNA-specific" ]
Which is the major RNA editing enzyme in Drosophila melanogaster?
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BioASQ
Erythrasma is an uncommon vulvar infection, best diagnosed by its fluorescence under the Wood lamp. This report shows that despite a negative Wood lamp examination, the diagnosis can be made histologically. A 42-year-old woman was referred to our clinic with a persistent candidal infection. Evaluation included a Wood lamp examination, wet mount, and potassium hydroxide test of the affected skin, all of which were negative. A biopsy of the area demonstrated rods and filamentous organisms in the keratotic layer consistent with a Corynebacterium minutissimum infection. The patient was diagnosed as having erythrasma, and she responded to oral erythromycin. Persistent vulvar diseases may be caused by erythrasma despite a negative Wood lamp examination. The diagnosis can be made by biopsy of the lesion.
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c5bec275c58b4f4e81b005aac5c0e82f
Which bacteria causes erythrasma?
{ "tokens": [ "Which", "bacteria", "causes", "erythrasma", "?" ], "offsets": [ 0, 6, 15, 22, 32 ] }
{ "text": [ "Corynebacterium minutissimum" ], "char_spans": [ { "start": [ 533 ], "end": [ 560 ] } ], "token_spans": [ { "start": [ 93 ], "end": [ 94 ] } ] }
[ "Corynebacterium minutissimum" ]
Which bacteria causes erythrasma?
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BioASQ
Riociguat (Adempas): a novel agent for the treatment of pulmonary arterial hypertension and chronic thromboembolic pulmonary hypertension.
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9f45a919c4ba49198514e6173ce5710f
What is generic name of drug Adempas?
{ "tokens": [ "What", "is", "generic", "name", "of", "drug", "Adempas", "?" ], "offsets": [ 0, 5, 8, 16, 21, 24, 29, 36 ] }
{ "text": [ "riociguat" ], "char_spans": [ { "start": [ 0 ], "end": [ 8 ] } ], "token_spans": [ { "start": [ 0 ], "end": [ 0 ] } ] }
[ "riociguat" ]
What is generic name of drug [MASK]?
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BioASQ
Transgenic mice expressing a human mutant alpha-galactosidase with an R301Q substitution, which was found in a patient with a variant form of Fabry disease, were established. The mice transcribed a sufficient amount of alpha-galactosidase mRNA, but the steady-state levels of the enzyme protein were decreased in liver, kidney and heart, only residual activity being detected in these tissues. The mice will be useful for the clarification of the defective regulation of the structurally altered enzyme protein expressed by the mutant gene at the organ or individual level as well as for the evaluation of drugs that stabilize and/or activate the mutant alpha-galactosidase.
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0b96af4f05454584acfec3b094cb01bf
Which is the defective protein causing the lysosomal storage disease Fabry?
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{ "text": [ "alpha-galactosidase A" ], "char_spans": [ { "start": [ 654, 219, 42 ], "end": [ 672, 237, 60 ] } ], "token_spans": [ { "start": [ 114, 38, 6 ], "end": [ 116, 40, 8 ] } ] }
[ "alpha-galactosidase A" ]
Which is the defective protein causing the lysosomal storage disease Fabry?
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BioASQ
Chronic inflammation contributes to a wide variety of human disorders. In the stomach, longstanding gastritis often results in structural alterations in the gastric mucosa, including metaplastic changes and gastric cancers. Therefore, it is important to elucidate factors that are involved in gastric inflammation. Nardilysin (N-arginine dibasic convertase; Nrdc) is a metalloendopeptidase of the M16 family that promotes ectodomain shedding of the precursor forms of various growth factors and cytokines by enhancing the protease activities of a disintegrin and metalloproteinase (ADAM) proteins. Here, we have demonstrated that Nrdc crucially regulates gastric inflammation caused by Helicobacter felis infection or forced expression of prostaglandin E
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133771e8d5b9448681074f5d120771a8
Which is the enzymatic activity of nardilysin?
{ "tokens": [ "Which", "is", "the", "enzymatic", "activity", "of", "nardilysin", "?" ], "offsets": [ 0, 6, 9, 13, 23, 32, 35, 45 ] }
{ "text": [ "Nardilysin (N-arginine dibasic convertase; Nrdc) is a metalloendopeptidase of the M16 family that promotes ectodomain shedding of the precursor forms of various growth factors and cytokines by enhancing the protease activities of a disintegrin and metalloproteinase (ADAM) proteins." ], "char_spans": [ { "start": [ 315 ], "end": [ 595 ] } ], "token_spans": [ { "start": [ 49 ], "end": [ 93 ] } ] }
[ "Nardilysin (N-arginine dibasic convertase; Nrdc) is a metalloendopeptidase of the M16 family that promotes ectodomain shedding of the precursor forms of various growth factors and cytokines by enhancing the protease activities of a disintegrin and metalloproteinase (ADAM) proteins." ]
Which is the enzymatic activity of nardilysin?
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BioASQ
Muenke syndrome, defined by heterozygosity for a Pro250Arg substitution in fibroblast growth factor receptor 3 (FGFR3), is the most common genetic cause of craniosynostosis in humans. We have used gene targeting to introduce the Muenke syndrome mutation (equivalent to P244R) into the murine Fgfr3 gene. A rounded skull and shortened snout (often skewed) with dental malocclusion was observed in a minority of heterozygotes and many homozygotes. Development of this incompletely penetrant skull phenotype was dependent on genetic background and sex, with males more often affected. However, these cranial abnormalities were rarely attributable to craniosynostosis, which was only present in 2/364 mutants; more commonly, we found fusion of the premaxillary and/or zygomatic sutures. We also found decreased cortical thickness and bone mineral densities in long bones. We conclude that although both cranial and long bone development is variably affected by the murine Fgfr3(P244R) mutation, coronal craniosynostosis is not reliably reproduced.
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0e24607baaa74369a7171110551ca197
Which gene is associated with Muenke syndrome?
{ "tokens": [ "Which", "gene", "is", "associated", "with", "Muenke", "syndrome", "?" ], "offsets": [ 0, 6, 11, 14, 25, 30, 37, 45 ] }
{ "text": [ "Fibroblast Growth Factor Receptor 3 (FGFR3)" ], "char_spans": [ { "start": [ 75 ], "end": [ 116 ] } ], "token_spans": [ { "start": [ 11 ], "end": [ 17 ] } ] }
[ "Fibroblast Growth Factor Receptor 3 (FGFR3)" ]
Which gene is associated with Muenke syndrome?
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BioASQ
The nuclear factor of activated T cells (NFAT) group of transcription factors is retained in the cytoplasm of quiescent cells. NFAT activation is mediated in part by induced nuclear import. This process requires calcium-dependent dephosphorylation of NFAT caused by the phosphatase calcineurin. The c-Jun amino-terminal kinase (JNK) phosphorylates NFAT4 on two sites. Mutational removal of the JNK phosphorylation sites caused constitutive nuclear localization of NFAT4. In contrast, JNK activation in calcineurin-stimulated cells caused nuclear exclusion of NFAT4. These findings show that the nuclear accumulation of NFAT4 promoted by calcineurin is opposed by the JNK signal transduction pathway.
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159fb9e0c8bc4d909f970547f876d1d4
Which calcium/calmodulin dependent protein phosphatase is involved in the activation of the family of NFAT transcription factors (Nuclear Factors of Activated T cells)?
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{ "text": [ "Calcineurin" ], "char_spans": [ { "start": [ 282, 637, 502 ], "end": [ 292, 647, 512 ] } ], "token_spans": [ { "start": [ 47, 107, 86 ], "end": [ 47, 107, 86 ] } ] }
[ "Calcineurin", "CaN", "phosphatase 2b" ]
Which calcium/calmodulin dependent protein phosphatase is involved in the activation of the family of NFAT transcription factors (Nuclear Factors of Activated T cells)?
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BioASQ
Respirasomes are macromolecular assemblies of the respiratory chain complexes I, III and IV in the inner mitochondrial membrane. We determined the structure of supercomplex I
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33ef66d3e9fc40e58b68c9f3044a109b
Where is the respirasome located?
{ "tokens": [ "Where", "is", "the", "respirasome", "located", "?" ], "offsets": [ 0, 6, 9, 13, 25, 32 ] }
{ "text": [ "In the inner mitochondrial membrane" ], "char_spans": [ { "start": [ 92 ], "end": [ 126 ] } ], "token_spans": [ { "start": [ 14 ], "end": [ 18 ] } ] }
[ "In the inner mitochondrial membrane" ]
Where is the respirasome located?
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BioASQ
The interpretation of non-coding variants still constitutes a major challenge in the application of whole-genome sequencing in Mendelian disease, especially for single-nucleotide and other small non-coding variants. Here we present Genomiser, an analysis framework that is able not only to score the relevance of variation in the non-coding genome, but also to associate regulatory variants to specific Mendelian diseases. Genomiser scores variants through either existing methods such as CADD or a bespoke machine learning method and combines these with allele frequency, regulatory sequences, chromosomal topological domains, and phenotypic relevance to discover variants associated to specific Mendelian disorders. Overall, Genomiser is able to identify causal regulatory variants as the top candidate in 77% of simulated whole genomes, allowing effective detection and discovery of regulatory variants in Mendelian disease.
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4a495d88d0714bcc97e38046daa518c9
Which method is available for whole genome identification of pathogenic regulatory variants in mendelian disease?
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{ "text": [ "Genomiser" ], "char_spans": [ { "start": [ 232, 727, 423 ], "end": [ 240, 735, 431 ] } ], "token_spans": [ { "start": [ 40, 118, 74 ], "end": [ 40, 118, 74 ] } ] }
[ "Genomiser" ]
Which method is available for whole genome identification of pathogenic regulatory variants in mendelian disease?
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BioASQ
Chediak-Higashi syndrome (CHS) is an autosomal recessive hereditary disorder in Japanese Black cattle, caused by a mutation of the Lyst gene. So far, the mutation has been detected by PCR-restriction fragment length polymorphism (PCR-RFLP) analysis. However, this method is disadvantaged by its low-throughput performance. Here, we report an alternative method involving real-time PCR with TaqMan minor groove binder probes, which shortens the total assay time by more than 120 min, analyzing 10 samples in a duplicated manner. Using this method, we examined 102 Japanese Black cattle and found that 8.8% of the cattle were CHS-carriers. These data indicate that our technique is useful for routine diagnostic testing for CHS in Japanese Black cattle.
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6de488eb1d614d6d9605a4bf3e86a220
Which mutated gene causes the Chédiak–Higashi Syndrome?
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{ "text": [ "LYST gene" ], "char_spans": [ { "start": [ 131 ], "end": [ 139 ] } ], "token_spans": [ { "start": [ 24 ], "end": [ 25 ] } ] }
[ "lysosomal trafficking regulator gene", "LYST gene" ]
Which mutated gene causes the Chédiak–Higashi Syndrome?
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BioASQ
Intravenous immunoglobulin (IVIG) has shown limited promise so far in human clinical studies on Alzheimer's disease (AD), yet overwhelmingly positive preclinical work in animals and human brain cultures support the notion that the therapy remains potentially efficacious. Here, we elaborate on IVIG neuropreservation by demonstrating that IVIG protects human primary neurons against oxidative stress in vitro and that IVIG preserves antioxidant defense mechanisms in vivo. Based on these results, we propose the following translational impact: If the dosage and treatment conditions are adequately optimized, then IVIG treatment could play a significant role in preventing and/or delaying the progression of neurodegenerative diseases, such as AD. We suggest that IVIG warrants further investigation to fully exploit its potential as an anti-oxidant, neuroprotective and synapto-protecting agent.
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b281754e18ae429e9ea7345319018381
What is the administration route of IVIG in Alzheimer's disease patients?
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{ "text": [ "Intravenous" ], "char_spans": [ { "start": [ 0 ], "end": [ 10 ] } ], "token_spans": [ { "start": [ 0 ], "end": [ 0 ] } ] }
[ "Intravenous" ]
What is the administration route of IVIG in Alzheimer's disease patients?
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BioASQ
The VISTA-16 trial of varespladib, a secretory phospholipase A2 (sPLA2) inhibitor, in patients with an acute coronary syndrome was terminated prematurely owing to futility and a signal towards harm. Despite these discouraging results, therapies that target inflammation to modify pathways in atherogenesis remain an area of active investigation.
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aa3bd2754c49481280548e95e33f1438
Which enzyme is inhibited by Varespladib?
{ "tokens": [ "Which", "enzyme", "is", "inhibited", "by", "Varespladib", "?" ], "offsets": [ 0, 6, 13, 16, 26, 29, 40 ] }
{ "text": [ "secretory phospholipase A2" ], "char_spans": [ { "start": [ 37 ], "end": [ 62 ] } ], "token_spans": [ { "start": [ 7 ], "end": [ 9 ] } ] }
[ "secretory phospholipase A2" ]
Which enzyme is inhibited by [MASK]?
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BioASQ
Recent clinical data suggest remarkable activity of ibrutinib, the first-in-class covalent inhibitor of Bruton's tyrosine kinase (BTK), in chronic lymphocytic leukemia (CLL), as well as excellent activity in other B cell malignancies, including in particular mantle cell lymphoma and Waldenstrom macroglobulinemia. This review evaluates the data from ongoing clinical and correlative studies of ibrutinib in B cell malignancies with a particular focus on CLL, and considers these data in the context of other B cell receptor pathway inhibitors.
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cafa66fb437540ef9aa450b70b36bc58
What is the name of Bruton's tyrosine kinase inhibitor that can be used for treatment of chronic lymphocytic leukemia?
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{ "text": [ "Ibrutinib" ], "char_spans": [ { "start": [ 52, 395 ], "end": [ 60, 403 ] } ], "token_spans": [ { "start": [ 7, 67 ], "end": [ 7, 67 ] } ] }
[ "Ibrutinib" ]
What is the name of [MASK] 's tyrosine kinase inhibitor that can be used for treatment of chronic lymphocytic leukemia?
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BioASQ
Missense mutations in ubiquilin 2 (UBQLN2) cause ALS with frontotemporal dementia (ALS-FTD). Animal models of ALS are useful for understanding the mechanisms of pathogenesis and for preclinical investigations. However, previous rodent models carrying UBQLN2 mutations failed to manifest any sign of motor neuron disease. Here, we show that lines of mice expressing either the ALS-FTD-linked P497S or P506T UBQLN2 mutations have cognitive deficits, shortened lifespans, and develop motor neuron disease, mimicking the human disease. Neuropathologic analysis of the mice with end-stage disease revealed the accumulation of ubiquitinated inclusions in the brain and spinal cord, astrocytosis, a reduction in the number of hippocampal neurons, and reduced staining of TAR-DNA binding protein 43 in the nucleus, with concomitant formation of ubiquitin
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020cf00b943b468f9e50ce04bee47b9f
Which human disease is associated with mutated UBQLN2
{ "tokens": [ "Which", "human", "disease", "is", "associated", "with", "mutated", "UBQLN2" ], "offsets": [ 0, 6, 12, 20, 23, 34, 39, 47 ] }
{ "text": [ "ALS" ], "char_spans": [ { "start": [ 376, 110, 49, 83 ], "end": [ 378, 112, 51, 85 ] } ], "token_spans": [ { "start": [ 65, 22, 9, 14 ], "end": [ 65, 22, 9, 14 ] } ] }
[ "ALS", "amyotrophic lateral sclerosis" ]
Which human disease is associated with mutated UBQLN2
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BioASQ
The apolipoprotein E type 4 allele is a susceptibility gene for late-onset Alzheimer's disease. Apolipoprotein E is found in neurons, some of which contain paired helical filaments made of the microtubule-associated protein tau. Previous studies have demonstrated that the apoE3 isoform, but not the apoE4 isoform, binds tau with high avidity. Because the microtubule-associated protein MAP2c also effects microtubule assembly and stability, we examined interactions between apoE isoforms and MAP2c. Similar to the tau-binding results, apoE3, but not apoE4, bound MAP2c. Binding was detectable down to 10(-9) M MAP2c and 10(-8) M apoE3. Isoform-specific interactions of apoE with the microtubule-associated proteins MAP2c and tau might affect intracellular maintenance of microtubules and could contribute to a time-dependent pathogenesis of Alzheimer's disease.
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2a8c06afe76f42f9ab06708b3adc27fc
Which ApoE isoform is associated with atherosclerosis and Alzheimer's disease?
{ "tokens": [ "Which", "ApoE", "isoform", "is", "associated", "with", "atherosclerosis", "and", "Alzheimer", "'s", "disease", "?" ], "offsets": [ 0, 6, 11, 19, 22, 33, 38, 54, 58, 67, 70, 77 ] }
{ "text": [ "ApoE4 isoform" ], "char_spans": [ { "start": [ 300 ], "end": [ 312 ] } ], "token_spans": [ { "start": [ 53 ], "end": [ 54 ] } ] }
[ "ApoE4 isoform", "Apolipoprotein E4 isoform" ]
Which ApoE isoform is associated with atherosclerosis and Alzheimer's disease?
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BioASQ
In many genomic studies, one works with genome-position-dependent data, e.g. ChIP-chip or ChIP-Seq scores. Using conventional tools, it can be difficult to get a good feel for the data, especially the distribution of features. This article argues that the so-called Hilbert curve visualization can complement genome browsers and help to get further insights into the structure of one's data. This is demonstrated with examples from different use cases. An open-source application, called HilbertVis, is presented that allows the user to produce and interactively explore such plots. http://www.ebi.ac.uk/huber-srv/hilbert/.
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0d068226dea64534a6062b1fe2b2d4a6
Which R/bioconductor package utilizes the Hilbert curve in order to visualize genomic data?
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{ "text": [ "HilbertVis" ], "char_spans": [ { "start": [ 488 ], "end": [ 497 ] } ], "token_spans": [ { "start": [ 94 ], "end": [ 94 ] } ] }
[ "HilbertVis" ]
Which R/bioconductor package utilizes the Hilbert curve in order to visualize genomic data?
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BioASQ
Two forms of neurofibromatosis, type 1 (NF1) and type 2 (NF2) are connected with genes localized on chromosomes 17 and 22, respectively. The genes that are inactivated in neurofibromatosis code for the proteins neurofibromine and merline, respectively. Since inactivation leads to neoplasia, they are called tumour suppressor genes. Neurofibromine shows resemblances to proteins that serve to inactivate oncogenes. Merline has a relationship with proteins that connect the cytoskeleton and the cell membrane. The precise function of the proteins is still unknown. The NF1 gene is characterized by extraordinarily high sensitivity to mutation; half the NF1 patients have not inherited the disease. In the familial form of neurofibromatosis, a mutated gene is inherited and the normal allele in the tumour is inactivated, making tumour growth possible. In the sporadic form of neurofibromatosis, both normal alleles are inactivated locally in the tissue so that a tumour develops in that place.
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02a0b88b776d4b2d90874b4cebd2bc40
Which is the gene mutated in type 1 neurofibromatosis?
{ "tokens": [ "Which", "is", "the", "gene", "mutated", "in", "type", "1", "neurofibromatosis", "?" ], "offsets": [ 0, 6, 9, 13, 18, 26, 29, 34, 36, 53 ] }
{ "text": [ "NF1" ], "char_spans": [ { "start": [ 40, 568, 652 ], "end": [ 42, 570, 654 ] } ], "token_spans": [ { "start": [ 8, 96, 109 ], "end": [ 8, 96, 109 ] } ] }
[ "NF1" ]
Which is the gene mutated in type 1 neurofibromatosis?
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BioASQ
With the recent introduction of inhibitors of mammalian target of rapamycin (mTOR) in oncology, distinct cutaneous and oral adverse events have been identified. In fact, stomatitis and rash are documented as the most frequent and potentially dose-limiting side effects. Clinically, mTOR inhibitor-associated stomatitis (mIAS) more closely resembles aphthous stomatitis than oral mucositis due to conventional anticancer therapies. While most cases of mIAS are mild to moderate and self-limiting, more severe and persistent mIAS can become a dose-limiting toxicity. Small ulcerations may cause significant pain and mucosal sensitivity may occur in the absence of clinical changes. Use of clinical assessment tools that are primarily driven by ulceration size may underestimate mIAS, and assessment should include patient-reported outcomes. This article provides an up-to-date review of the clinical presentation, terminology, pathogenesis, assessment and management of mIAS and other mTOR inhibitor-associated oral adverse events. In addition, areas of future research are considered.
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51c0f6328c564f34adfee63c41eda084
What does mTOR stands for?
{ "tokens": [ "What", "does", "mTOR", "stands", "for", "?" ], "offsets": [ 0, 5, 10, 15, 22, 25 ] }
{ "text": [ "mammalian target of rapamycin" ], "char_spans": [ { "start": [ 46 ], "end": [ 74 ] } ], "token_spans": [ { "start": [ 7 ], "end": [ 10 ] } ] }
[ "mammalian target of rapamycin" ]
What does [MASK] stands for?
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BioASQ
Mowat-Wilson syndrome (MWS) is a rare genetic condition where variable and multiple congenital anomalies including Hirschsprung's disease, intellectual disability, and prominent facial features are present. At molecular level, MWS is characterized by many different described mutations in the zinc finger E-box protein 2 (ZEB2) gene, ultimately leading to loss of gene function. This report is the first to describe the association of MWS with two different asynchronous malignant brain tumors (medulloblastoma and glioblastoma) occurring in a child.
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1d067f852f5b46409f02c83de355022e
Which gene is responsible for the development of the Mowat-Wilson syndrome?
{ "tokens": [ "Which", "gene", "is", "responsible", "for", "the", "development", "of", "the", "Mowat", "-", "Wilson", "syndrome", "?" ], "offsets": [ 0, 6, 11, 14, 26, 30, 34, 46, 49, 53, 58, 59, 66, 74 ] }
{ "text": [ "ZEB2" ], "char_spans": [ { "start": [ 322 ], "end": [ 325 ] } ], "token_spans": [ { "start": [ 55 ], "end": [ 55 ] } ] }
[ "ZFHX1B", "ZEB2", "SIP-1" ]
Which gene is responsible for the development of the Mowat-Wilson syndrome?
[ -0.0017127315513789654, -0.011449825018644333, -0.002323009306564927, -0.01894146203994751, 0.02748260460793972, -0.0026613837108016014, 0.03985944390296936, -0.036128439009189606, -0.03635869920253754, -0.003342545125633478, -0.01842295192182064, 0.005319647490978241, -0.04001824930310249, ...
BioASQ
Autosomal dominant facioscapulohumeral muscular dystrophy (FSHD) has an unusual pathogenic mechanism. FSHD is caused by deletion of a subset of D4Z4 macrosatellite repeat units in the subtelomere of chromosome 4q. Recent studies provide compelling evidence that a retrotransposed gene in the D4Z4 repeat, DUX4, is expressed in the human germline and then epigenetically silenced in somatic tissues. In FSHD, the combination of inefficient chromatin silencing of the D4Z4 repeat and polymorphisms on the FSHD-permissive alleles that stabilize the DUX4 mRNAs emanating from the repeat result in inappropriate DUX4 protein expression in muscle cells. FSHD is thereby the first example of a human disease caused by the inefficient repression of a retrogene in a macrosatellite repeat array.
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fb6050311b794585986ab4a8b17b564e
Which disease is associated with the ectopic expression of the protein encoded by the gene DUX4?
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{ "text": [ "FSHD" ], "char_spans": [ { "start": [ 59, 402, 648, 102, 503 ], "end": [ 62, 405, 651, 105, 506 ] } ], "token_spans": [ { "start": [ 6, 65, 104, 14, 81 ], "end": [ 6, 65, 104, 14, 81 ] } ] }
[ "Facioscapulohumeral dystrophy", "FSHD" ]
Which disease is associated with the ectopic expression of the protein encoded by the gene DUX4?
[ -0.006237793248146772, -0.010011617094278336, 0.00848519429564476, 0.009195264428853989, 0.029365386813879013, -0.006225361954420805, 0.018733011558651924, -0.009576735086739063, -0.007809622213244438, -0.003980845678597689, -0.03317010775208473, 0.0037116152234375477, -0.038292914628982544,...
BioASQ
N6-methyladenosine (m6A) is a common modification of mRNA with potential roles in fine-tuning the RNA life cycle. Here, we identify a dense network of proteins interacting with METTL3, a component of the methyltransferase complex, and show that three of them (WTAP, METTL14, and KIAA1429) are required for methylation. Monitoring m6A levels upon WTAP depletion allowed the definition of accurate and near single-nucleotide resolution methylation maps and their classification into WTAP-dependent and -independent sites. WTAP-dependent sites are located at internal positions in transcripts, topologically static across a variety of systems we surveyed, and inversely correlated with mRNA stability, consistent with a role in establishing "basal" degradation rates. WTAP-independent sites form at the first transcribed base as part of the cap structure and are present at thousands of sites, forming a previously unappreciated layer of transcriptome complexity. Our data shed light on the proteomic and transcriptional underpinnings of this RNA modification.
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c3596cdec1b2483b889a950b0ae18039
Which properties of the mRNA does N6-methyladenosine (m6A) affect?
{ "tokens": [ "Which", "properties", "of", "the", "mRNA", "does", "N6-methyladenosine", "(", "m6A", ")", "affect", "?" ], "offsets": [ 0, 6, 17, 20, 24, 29, 34, 53, 54, 57, 59, 65 ] }
{ "text": [ "mRNA stability" ], "char_spans": [ { "start": [ 683 ], "end": [ 696 ] } ], "token_spans": [ { "start": [ 117 ], "end": [ 118 ] } ] }
[ "mRNA stability" ]
Which properties of the mRNA does N6-methyladenosine (m6A) affect?
[ 0.0040580048225820065, 0.030116356909275055, 0.01899712160229683, -0.009950990788638592, 0.028371836990118027, 0.0019320661667734385, 0.007377733010798693, -0.008759587071835995, -0.007248139940202236, 0.0027287937700748444, -0.04739857837557793, 0.007923287339508533, -0.02281320095062256, ...
BioASQ
Protein-protein interactions are essential for many cellular processes. We have developed a technology called light-activated dimerization (LAD) to artificially induce protein hetero- and homodimerization in live cells using light. Using the FKF1 and GIGANTEA (GI) proteins of Arabidopsis thaliana, we have generated protein tags whose interaction is controlled by blue light. We demonstrated the utility of this system with LAD constructs that can recruit the small G-protein Rac1 to the plasma membrane and induce the local formation of lamellipodia in response to focal illumination. We also generated a light-activated transcription factor by fusing domains of GI and FKF1 to the DNA binding domain of Gal4 and the transactivation domain of VP16, respectively, showing that this technology is easily adapted to other systems. These studies set the stage for the development of light-regulated signaling molecules for controlling receptor activation, synapse formation and other signaling events in organisms.
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9bf503906c3b425bb54cf156d27e9101
Which G protein is essential in the formation and function of lamellipodia?
{ "tokens": [ "Which", "G", "protein", "is", "essential", "in", "the", "formation", "and", "function", "of", "lamellipodia", "?" ], "offsets": [ 0, 6, 8, 16, 19, 29, 32, 36, 46, 50, 59, 62, 74 ] }
{ "text": [ "Rac1" ], "char_spans": [ { "start": [ 477 ], "end": [ 480 ] } ], "token_spans": [ { "start": [ 81 ], "end": [ 81 ] } ] }
[ "Rac1" ]
Which G protein is essential in the formation and function of lamellipodia?
[ 0.016303759068250656, 0.006621620152145624, 0.01703246310353279, 0.019078483805060387, 0.025231564417481422, 0.01619154028594494, 0.02717241644859314, -0.02417716570198536, -0.03240343555808067, -0.009722888469696045, -0.0126597099006176, 0.008008087053894997, -0.04776782542467117, 0.01419...
BioASQ
The mechanism of neurodegeneration in CAG/polyglutamine repeat expansion diseases is unknown but is thought to occur at the protein level. Here, in studies of spinocerebellar ataxia type 3, also known as Machado-Joseph disease (SCA3/MJD), we show that the disease protein ataxin-3 accumulates in ubiquitinated intranuclear inclusions selectively in neurons of affected brain regions. We further provide evidence in vitro for a model of disease in which an expanded polyglutamine-containing fragment recruits full-length protein into insoluble aggregates. Together with recent findings from transgenic models, our results suggest that intranuclear aggregation of the expanded protein is a unifying feature of CAG/polyglutamine diseases and may be initiated or catalyzed by a glutamine-containing fragment of the disease protein.
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353a222964794361bdaaf8ea481c12ee
Which is the protein implicated in Spinocerebellar ataxia type 3?
{ "tokens": [ "Which", "is", "the", "protein", "implicated", "in", "Spinocerebellar", "ataxia", "type", "3", "?" ], "offsets": [ 0, 6, 9, 13, 21, 32, 35, 51, 58, 63, 64 ] }
{ "text": [ "Ataxin-3" ], "char_spans": [ { "start": [ 272 ], "end": [ 279 ] } ], "token_spans": [ { "start": [ 50 ], "end": [ 50 ] } ] }
[ "Ataxin-3" ]
Which is the protein implicated in Spinocerebellar ataxia type 3?
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BioASQ
mDia proteins are members of the formin family of actin nucleating proteins that polymerize linear actin filaments. Such filaments form the core of thin, tubular, membrane-bound cell surface protrusions known as filopodia, which are a major feature of mammalian cell morphology. Filopodia are dynamic structures that help cells sense environmental cues, and play a role in cell migration, axon guidance, angiogenesis and other processes. RhoGTPases bind to and control the activity of mDia proteins, and several other binding partners of the three mDia1 isoforms-mDia1, mDia2 and mDia3-have been documented. Two independent pathways controlling mammalian filopodium formation have emerged, with one driven by the RhoGTPase Cdc42, and the other by Rif. While mDia2 has been the main formin implicated in forming filopodia, mDia1 has recently surfaced as the key formin utilized by both the Cdc42 and Rif pathways to drive filopodial protrusion.
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df45d243d5b846c9b8dd26f62bbe479e
What family do mDia proteins belong in?
{ "tokens": [ "What", "family", "do", "mDia", "proteins", "belong", "in", "?" ], "offsets": [ 0, 5, 12, 15, 20, 29, 36, 38 ] }
{ "text": [ "mDia proteins are members of the formin family" ], "char_spans": [ { "start": [ 0 ], "end": [ 45 ] } ], "token_spans": [ { "start": [ 0 ], "end": [ 7 ] } ] }
[ "mDia proteins are members of the formin family" ]
What family do mDia proteins belong in?
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BioASQ
An 11-day embryonic Swiss Webster/NIH mouse cDNA library was screened with a partial murine selenoprotein P cDNA probe and a murine selenoprotein-P-type cDNA clone of 2075 bp length was obtained. The clone contained a 5'-leader sequence of 132 bp length, the selenoprotein P coding frame, and 803 base pairs in the 3' untranslated region. Alignment and RNA folding studies revealed the presence of two well conserved selenocysteine inserting motifs in the 3' flanking region. The deduced polypeptide sequence comprises 380 residues including ten selenocysteines. Identical amino acid residues in homologous positions are 86%, 71%, and 64% when compared to the previously reported selenoprotein P sequences of rat, man, and cattle, respectively. The comparatively low similarity between the selenoprotein P sequences reported so far leaves open the question whether they belong to the same molecular clade.
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acb923e812724d94bc4863897a19ef39
Which is the human selenoprotein that contains several Se-Cys residues?
{ "tokens": [ "Which", "is", "the", "human", "selenoprotein", "that", "contains", "several", "Se", "-", "Cys", "residues", "?" ], "offsets": [ 0, 6, 9, 13, 19, 33, 38, 47, 55, 57, 58, 62, 70 ] }
{ "text": [ "Selenoprotein P" ], "char_spans": [ { "start": [ 92, 259, 790, 680, 132 ], "end": [ 106, 273, 804, 694, 146 ] } ], "token_spans": [ { "start": [ 16, 49, 140, 121, 23 ], "end": [ 17, 50, 141, 122, 25 ] } ] }
[ "selenoprotein P", "selenoprotein-P", "Selenoprotein P" ]
Which is the human selenoprotein that contains several [MASK] residues?
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BioASQ
Spleen tyrosine kinase (Syk) is involved in the development of the adaptive immune system and has been recognized as being important in the function of additional cell types, including platelets, phagocytes, fibroblasts, and osteoclasts, and in the generation of the inflammasome. Preclinical studies presented compelling evidence that Syk inhibition may have therapeutic value in the treatment of rheumatoid arthritis and other forms of arthritis, systemic lupus erythematosus, autoimmune cytopenias, and allergic and autoinflammatory diseases. In addition, Syk inhibition may have a place in limiting tissue injury associated with organ transplant and revascularization procedures. Clinical trials have documented exciting success in the treatment of patients with rheumatoid arthritis, autoimmune cytopenias, and allergic rhinitis. While the extent and severity of side effects appear to be limited so far, larger studies will unravel the risk involved with the clinical benefit.
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4f5281fae53d4f948abc936704d3dab3
Which enzyme is inhibited by a drug fostamatinib?
{ "tokens": [ "Which", "enzyme", "is", "inhibited", "by", "a", "drug", "fostamatinib", "?" ], "offsets": [ 0, 6, 13, 16, 26, 29, 31, 36, 48 ] }
{ "text": [ "spleen tyrosine kinase" ], "char_spans": [ { "start": [ 0 ], "end": [ 21 ] } ], "token_spans": [ { "start": [ 0 ], "end": [ 2 ] } ] }
[ "spleen tyrosine kinase" ]
Which enzyme is inhibited by a drug fostamatinib?
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BioASQ
Diamond-Blackfan anemia (DBA) is a rare congenital red-cell aplasia characterized by anemia, bone-marrow erythroblastopenia, and congenital anomalies and is associated with heterozygous mutations in the ribosomal protein (RP) S19 gene (RPS19) in approximately 25% of probands. We report identification of de novo nonsense and splice-site mutations in another RP, RPS24 (encoded by RPS24 [10q22-q23]) in approximately 2% of RPS19 mutation-negative probands. This finding strongly suggests that DBA is a disorder of ribosome synthesis and that mutations in other RP or associated genes that lead to disrupted ribosomal biogenesis and/or function may also cause DBA.
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f987a6c739454ffa9a27e24c4e5235c2
In which syndrome is the RPS19 gene most frequently mutated?
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[ "Diamond-Blackfan Anemia", "DBA" ]
In which syndrome is the RPS19 gene most frequently mutated?
[ 0.0018025647150352597, -0.004003627225756645, 0.0015495851403102279, 0.004294069483876228, 0.02450723946094513, 0.0017461838433519006, 0.035739850252866745, -0.0025639180094003677, -0.04264819994568825, 0.011608476750552654, -0.03558982163667679, -0.010573566891252995, -0.049010150134563446,...
BioASQ
The members of the NOX family of enzymes are expressed in a variety of tissues and serve a number of functions. There is a high level of conservation of primary protein sequence, as well as functional features, although specialized responses are beginning to emerge. In this context, our data demonstrate that the NOX1 cytoplasmic domains interact efficiently with the cytoplasmic subunits of the phagocyte NADPH oxidase and identify the second cytoplasmic loop of NOX electron transporters as a crucial domain for enzyme function. Studies of cytosolic co-factors showed that the C-terminal cytoplasmic domain of NOX1 was absolutely required for activation with NOXO1 and NOXA1 and that this activity required interaction of the putative NADPH-binding region of this domain with NOXA1. Finally, we have provided the first example of how alternative splicing of a NOX co-factor may be involved in the regulation of NADPH oxidase function.
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1d9e22d6ebaa441090217077e2711e57
Which NADPH oxidase family member requires interaction with NOXO1 for function?
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{ "text": [ "NOX1" ], "char_spans": [ { "start": [ 613, 314 ], "end": [ 616, 317 ] } ], "token_spans": [ { "start": [ 104, 57 ], "end": [ 104, 57 ] } ] }
[ "NADPH oxidase 1", "NOX1", "nicotinamide adenine dinucleotide phosphate-oxidase 1" ]
Which NADPH oxidase family member requires interaction with NOXO1 for function?
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BioASQ
Restless leg syndrome (RLS) and periodic limb movement disorder (PLMD) are considered to be a continuum of a neurological sleep disorder associated with abnormal iron metabolism or deficiency. I describe a case of RLS and PLMD in a cystic fibrosis patient with iron deficiency from chronic hemoptysis. This is the first case that reports RLS and PLMD manifesting from iron deficiency caused by chronic hemoptysis in advanced cystic fibrosis lung disease.
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cecd920cbb724d98aaf99c70c2dcc371
Which deficiency is the cause of restless leg syndrome?
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{ "text": [ "iron" ], "char_spans": [ { "start": [ 368, 162, 261 ], "end": [ 371, 165, 264 ] } ], "token_spans": [ { "start": [ 65, 28, 47 ], "end": [ 65, 28, 47 ] } ] }
[ "iron" ]
Which deficiency is the cause of restless leg syndrome?
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BioASQ
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a hereditary cerebrovascular disease leading to accumulating neurologic deficits and dementia. CADASIL has been linked to nucleotide substitutions and deletions in the Notch3 gene. All the mutations described until now lead to unpaired cysteine residue in the epidermal growth factor-like repeats. The authors report a family with CADASIL carrying a deletion in the Notch3 gene that did not involve a cysteine residue.
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9027c3fd24a14863929469111bec18ae
Which amino acid residue appears mutated in most of the cases reported with cadasil syndrome?
{ "tokens": [ "Which", "amino", "acid", "residue", "appears", "mutated", "in", "most", "of", "the", "cases", "reported", "with", " ", "cadasil", "syndrome", "?" ], "offsets": [ 0, 6, 12, 17, 25, 33, 41, 44, 49, 52, 56, 62, 71, 76, 77, 85, 93 ] }
{ "text": [ "Cysteine" ], "char_spans": [ { "start": [ 340, 505 ], "end": [ 347, 512 ] } ], "token_spans": [ { "start": [ 48, 78 ], "end": [ 48, 78 ] } ] }
[ "Cysteine" ]
Which amino acid residue appears mutated in most of the cases reported with cadasil syndrome?
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BioASQ
Extrapolating the figures from a previous study on FSHD in a province of The Netherlands to the entire Dutch population suggests that at present a nearly complete overview is obtained of all symptomatic kindred. In 139 families, dominant inheritance was observed in 97, a pattern compatible with germline mosaicism in 6, while sporadic cases were found in 36 families. A mutation frequency of 9.6% was calculated. Mental retardation and severe retinal vasculopathy were reported in low frequencies (1%). Early onset was seen more frequently in sporadic cases. Chromosome 4 linkage appeared excluded in 3 of 22 autosomal-dominant families. The clinical pictures in the linked and nonlinked families were identical.
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9c3b896a35634a75b5d535c858119572
What is the mode of inheritance of Facioscapulohumeral muscular dystrophy (FSHD)?
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{ "text": [ "autosomal dominant" ], "char_spans": [ { "start": [ 610 ], "end": [ 627 ] } ], "token_spans": [ { "start": [ 108 ], "end": [ 110 ] } ] }
[ "autosomal-dominant", "autosomal dominant" ]
What is the mode of inheritance of Facioscapulohumeral muscular dystrophy (FSHD)?
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BioASQ
Borderline oxacillin-resistant Staphylococcus aureus (BORSA) represents a quite poorly understood and inadequately defined phenotype of methicillin resistance. BORSA strains show low, borderline resistance to penicillinase-resistant penicillins (PRPs), with oxacillin MICs typically equal to 1-8 µg ml
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6bf60ce1cd73408f93464f39ccdb6be4
What is BORSA?
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[ "Borderline oxacillin-resistant Staphylococcus aureus" ]
What is [MASK]?
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BioASQ
Psychiatric disorders have a great impact on morbidity and mortality. Genotype-phenotype resources for psychiatric diseases are key to enable the translation of research findings to a better care of patients. PsyGeNET is a knowledge resource on psychiatric diseases and their genes, developed by text mining and curated by domain experts. We present psygenet2r, an R package that contains a variety of functions for leveraging PsyGeNET database and facilitating its analysis and interpretation. The package offers different types of queries to the database along with variety of analysis and visualization tools, including the study of the anatomical structures in which the genes are expressed and gaining insight of gene's molecular function. Psygenet2r is especially suited for network medicine analysis of psychiatric disorders. The package is implemented in R and is available under MIT license from Bioconductor (http://bioconductor.org/packages/release/bioc/html/psygenet2r.html). juanr.gonzalez@isglobal.org or laura.furlong@upf.edu. Supplementary data are available at Bioinformatics online.
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4d4e76e2c6944123bd9d9709e0e9d250
Which R/Bioconductor package has been developed for the analysis of psychiatric disease genes?
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[ "Psygenet2r" ]
Which R/Bioconductor package has been developed for the analysis of psychiatric disease genes?
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BioASQ
Dasatinib (BMS-354825) is a Src/ABL tyrosine kinase inhibitor currently approved for the treatment of chronic myeloid leukemia. Dasatinib has increased potency against ABL compared to the current therapy imatinib, and is effective in many cases where disease is resistant to imatinib. Dasatinib also inhibits many Src-family tyrosine kinases. We have demonstrated in this study that dasatinib is able to block the function of normal human T-lymphocytes in vitro at clinically relevant concentrations. T-cell functions including proliferation, activation and cytokine production were all uniformly inhibited in the presence of dasatinib. We also demonstrated inhibition of TCR signalling through Src-family kinase LCK, and predicted that inhibition of LCK and other kinases involved in T-cell signalling by dasatinib is responsible for the suppression of T-cell function. These findings raise the concern about potential T-cell inhibition in patients taking dasatinib, and suggest a possible application for the treatment of T-cell mediated immune disorders.
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5b937d99df5342ca8ffb9a12ec8714ce
Does dasatinib promote or inhibit T-cell proliferation?
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[ "inhibits" ]
Does dasatinib promote or inhibit T-cell proliferation?
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BioASQ
Seven women in three generations of a family have been affected by Turner syndrome. Turner phenotype in this family is the result of deletion of the entire short arm of one X chromosome. The short arm deletion is transmitted by carriers of a balanced X-1 translocation. Autoradiographic findings showed that the deleted X chromosome was late labeling in those persons with Turner syndrome, whereas the normal X chromosome was late replicating in carriers of the balanced translocation. The results of Xga typing of erythrocytes suggest that the Xg locus is on the short arm of the X chromosome. Because of the clinical implications, we believe that families of persons with structural chromosomal abnormalities should be studied to exclude familial transmission.
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8a95f412e40d4b0ba12e01f67102652b
What chromosome is affected in Turner's syndrome?
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[ "X" ]
What chromosome is affected in Turner's syndrome?
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BioASQ
In a phase I study, Gilead Sciences' PI3K-δ inhibitor idelalisib produced rapid tumor shrinkage-a response that lasted for 17 months on average-in about half of the 54 patients with chronic lymphocytic leukemia who participated.
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9369385dfdc54cd5b5310b9caa60fb49
What is the target protein of the drug Idelalisib?
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[ "PI3K-δ", "phosphoinositol-3 kinase delta isoform" ]
What is the target protein of the drug [MASK]?
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BioASQ
There has been much debate about the appropriate statistical methodology for the evaluation of malaria field studies and the challenges in interpreting data arising from these trials. The present paper describes, for a pivotal phase III efficacy of the RTS, S/AS01 malaria vaccine, the methods of the statistical analysis and the rationale for their selection. The methods used to estimate efficacy of the primary course of vaccination, and of a booster dose, in preventing clinical episodes of uncomplicated and severe malaria, and to determine the duration of protection, are described. The interpretation of various measures of efficacy in terms of the potential public health impact of the vaccine is discussed. The methodology selected to analyse the clinical trial must be scientifically sound, acceptable to regulatory authorities and meaningful to those responsible for malaria control and public health policy.
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565e79886a2d468ab49544a0c8e4d2c9
RTS S AS01 vaccine was developed to prevent which disease?
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[ "malaria" ]
RTS S AS01 vaccine was developed to prevent which disease?
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BioASQ
Since the discovery of non-coding, small, highly structured, satellite RNAs (satRNAs) and viroids as subviral pathogens of plants , have been of great interest to molecular biologists as possible living fossils of pre-cellular evolution in an RNA world. Despite extensive studies performed in the last four decades, there is still mystery surrounding the origin and evolutionary relationship between these subviral pathogens. Recent technical advances revealed some commonly shared replication features between these two subviral pathogens. In this review, we discuss our current perception of replication and evolutionary origin of these petite RNA pathogens.
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0133a9c3b1f74db79d96f61d59105870
Which are the smallest known subviral pathogens of plants?
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{ "text": [ "Viroids" ], "char_spans": [ { "start": [ 90 ], "end": [ 96 ] } ], "token_spans": [ { "start": [ 19 ], "end": [ 19 ] } ] }
[ "Viroids" ]
Which are the smallest known subviral pathogens of plants?
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BioASQ
Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a rare arrythmogenic disease characterized by exercise--or stress--induced ventricular tachyarrythmias, syncope, or sudden death, usually in the pediatric age group. Familial occurrence has been noted in about 30% of cases. Inheritance may be autosomal dominant or recessive, usually with high penetrance. The causative genes have been mapped to chromosome 1. Mutations of the cardiac ryanodine receptor gene (RyR2) have been identified in autosomal dominant pedigrees, while calsequestrin gene (CASQ2) mutations are seen in recessive cases. Due to its potential lethal outcome, exclusion or confirmation of catecholaminergic polymorphic ventricular tachycardia in children with physical and emotional syncope is mandatory. We report a case of catecholaminergic polymorphic ventricular tachycardia in a three-year-old child only diagnosed by genetic mapping.
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023fcc86e5c846d2b6220e8e9e90de4c
What is the inheritance pattern of Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) caused by RYR2 mutations?
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{ "text": [ "autosomal dominant" ], "char_spans": [ { "start": [ 504, 307 ], "end": [ 521, 324 ] } ], "token_spans": [ { "start": [ 85, 51 ], "end": [ 86, 52 ] } ] }
[ "autosomal dominant" ]
What is the inheritance pattern of Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) caused by RYR2 mutations?
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BioASQ
Biologists agree that the ancestor of mitochondria was an alpha-proteobacterium. But there is no consensus as to what constitutes an alpha-proteobacterial gene. Is it a gene found in all or several alpha-proteobacteria, or in only one? Here, we examine the proportion of alpha-proteobacterial genes in alpha-proteobacterial genomes by means of sequence comparisons. We find that each alpha-proteobacterium harbours a particular collection of genes and that, depending upon the lineage examined, between 97 and 33% are alpha-proteobacterial by the nearest-neighbour criterion. Our findings bear upon attempts to reconstruct the mitochondrial ancestor and upon inferences concerning the collection of genes that the mitochondrial ancestor possessed at the time that it became an endosymbiont.
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1bcd341d9896445e8554027ad01ed066
Which species of bacteria did the mitochondria originate from?
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{ "text": [ "Biologists agree that the ancestor of mitochondria was an alpha-proteobacterium." ], "char_spans": [ { "start": [ 0 ], "end": [ 78 ] } ], "token_spans": [ { "start": [ 0 ], "end": [ 11 ] } ] }
[ "Biologists agree that the ancestor of mitochondria was an alpha-proteobacterium." ]
Which species of bacteria did the mitochondria originate from?
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BioASQ
The human endoplasmic reticulum aminopeptidase (ERAP) 1 and 2 proteins were initially identified as homologues of human placental leucine aminopeptidase/insulin-regulated aminopeptidase. They are categorized as a unique class of proteases based on their subcellular localization on the luminal side of the endoplasmic reticulum. ERAPs play an important role in the N-terminal processing of the antigenic precursors that are presented on the major histocompatibility complex (MHC) class I molecules. ERAPs are also implicated in the regulation of a wide variety of physiological phenomena and pathogenic conditions. In this review, the current knowledge on ERAPs is summarized.
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80d65d38d32c49f49b86b800be1f276d
Which is the subcellular localization of ERAP2?
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{ "text": [ "luminal side of the endoplasmic reticulum" ], "char_spans": [ { "start": [ 286 ], "end": [ 326 ] } ], "token_spans": [ { "start": [ 44 ], "end": [ 49 ] } ] }
[ "luminal side of the endoplasmic reticulum" ]
Which is the subcellular localization of [MASK]?
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BioASQ
Romano-Ward syndrome is a subtype of prolonged QT syndrome with autosomal dominant inheritance. Stress-induced syncope and sudden death are secondary to ventricular tachydysrhythmias. A case report of Romano-Ward syndrome complicating pregnancy is presented. Successful therapy with propranolol for life-threatening dysrhythmias was achieved. An excellent neonatal outcome occurred.
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34757c8e5ca444a192856060543f7791
What is the mode of inheritance of Romano Ward long QT syndrome?
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{ "text": [ "autosomal dominant" ], "char_spans": [ { "start": [ 64 ], "end": [ 81 ] } ], "token_spans": [ { "start": [ 12 ], "end": [ 13 ] } ] }
[ "autosomal dominant" ]
What is the mode of inheritance of [MASK] long QT syndrome?
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BioASQ
We present RADAR--a rigorously annotated database of A-to-I RNA editing (available at http://RNAedit.com). The identification of A-to-I RNA editing sites has been dramatically accelerated in the past few years by high-throughput RNA sequencing studies. RADAR includes a comprehensive collection of A-to-I RNA editing sites identified in humans (Homo sapiens), mice (Mus musculus) and flies (Drosophila melanogaster), together with extensive manually curated annotations for each editing site. RADAR also includes an expandable listing of tissue-specific editing levels for each editing site, which will facilitate the assignment of biological functions to specific editing sites.
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9ed4f4385bc94c1f8e4317bb859818ae
Which annotated database of A-to-I RNA editing is available?
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{ "text": [ "RADAR" ], "char_spans": [ { "start": [ 493, 253, 11 ], "end": [ 497, 257, 15 ] } ], "token_spans": [ { "start": [ 95, 50, 2 ], "end": [ 95, 50, 2 ] } ] }
[ "RADAR" ]
Which annotated database of A-to-I RNA editing is available?
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BioASQ
Rates of remission were examined in two controlled 12-week studies of sertraline and placebo for post-traumatic stress disorder (PTSD). The performance of three scales was evaluated: the self-rated Davidson Trauma Scale (DTS), and two interviewer scales: the Clinician Administered PTSD Scale (CAPS) and Clinical Global Impressions (CGI). Sertraline proved significantly superior to placebo with respect to remission on all three ratings. Rates of remission were very similar for all scales, ranging from 23.1-26.3% for sertraline and 13.9-14.9% for placebo. Traditional thresholds for the CAPS and DTS were tested relative to the CGI and to each other. The CAPS and DTS thresholds of < 20 and < 18 were found to be valid.
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b086ca841a4040e58142b56004268573
Symptoms of which disorder are evaluated with the Davidson Trauma Scale?
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{ "text": [ "post-traumatic stress disorder", "PTSD" ], "char_spans": [ { "start": [ 97 ], "end": [ 126 ] }, { "start": [ 129, 282 ], "end": [ 132, 285 ] } ], "token_spans": [ { "start": [ 15 ], "end": [ 19 ] }, { "start": [ 21, 51 ], "end": [ 21, 51 ] } ] }
[ "post-traumatic stress disorder", "PTSD" ]
Symptoms of which disorder are evaluated with the Davidson Trauma Scale?
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BioASQ
Once acquired, Epstein-Barr virus (EBV), a latent virus, remains in the body for what appears to be the lifetime of the human host. Circumstantial data suggest EBV is involved in clinical disease including malignancies far more often than previously recognized. A serologic test for early antigen (EA) is more specific for diagnosing active EBV disease than the monospot or heterophile test. A case study of active Epstein-Barr infection is reported showing persistently elevated early antigen titers prior to and following malignant transformation.
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f210d60705384548a979b62bca881946
Which virus can be diagnosed with the monospot test?
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{ "text": [ "Epstein-Barr virus" ], "char_spans": [ { "start": [ 15 ], "end": [ 32 ] } ], "token_spans": [ { "start": [ 3 ], "end": [ 6 ] } ] }
[ "Epstein-Barr virus" ]
Which virus can be diagnosed with the monospot test?
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BioASQ
Histone variant H2A.Z-containing nucleosomes exist at most eukaryotic promoters and play important roles in gene transcription and genome stability. The multisubunit nucleosome-remodeling enzyme complex SWR1, conserved from yeast to mammals, catalyzes the ATP-dependent replacement of histone H2A in canonical nucleosomes with H2A.Z. How SWR1 catalyzes the replacement reaction is largely unknown. Here, we determined the crystal structure of the N-terminal region (599-627) of the catalytic subunit Swr1, termed Swr1-Z domain, in complex with the H2A.Z-H2B dimer at 1.78 Å resolution. The Swr1-Z domain forms a 310 helix and an irregular chain. A conserved LxxLF motif in the Swr1-Z 310 helix specifically recognizes the αC helix of H2A.Z. Our results show that the Swr1-Z domain can deliver the H2A.Z-H2B dimer to the DNA-(H3-H4)2 tetrasome to form the nucleosome by a histone chaperone mechanism.
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fd3253087bbd4003b295d765450a9097
Which protein mediates the replacement of H2A by H2A.Z in the yeast Saccharomyces cerevisiae?
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{ "text": [ "SWR1" ], "char_spans": [ { "start": [ 500, 338, 203 ], "end": [ 503, 341, 206 ] } ], "token_spans": [ { "start": [ 83, 52, 29 ], "end": [ 83, 52, 29 ] } ] }
[ "SWR1" ]
Which protein mediates the replacement of H2A by H2A.Z in the yeast Saccharomyces cerevisiae?
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BioASQ
Restriction endonucleases play a very important role in genetic engineering and DNA mapping. Among hundreds of restriction endonucleases, the Eco R1 enzyme is the most useful and widely investigated enzyme. After sonication and ultracentrifugation, crude extracts of E. coli RY 13 were purified by employing the polyethyleneimine precipitate, ammonium sulfate precipitate and heparin Sepharose-4B affinity column chromatography. The Eco R1 enzyme were purified at about 42 folds and the specific activity was about 100,000 U/mg of protein. The whole purification procedure was finished within two days. The recovery was about 42%. The enzyme was sufficiently concentrated for direct specific DNA hydrolysis.
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f4212bc102cf47dea8b1a2b10b5fe090
Which bacteria was EcoRI, restriction endonuclease isolated from?
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{ "text": [ "E coli" ], "char_spans": [ { "start": [ 267 ], "end": [ 273 ] } ], "token_spans": [ { "start": [ 41 ], "end": [ 42 ] } ] }
[ "E coli" ]
Which bacteria was EcoRI, restriction endonuclease isolated from?
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BioASQ
Exosomes are a subset of extracellular vesicles (EVs) that have important roles in intercellular communication. They contain and carry bioactive molecules within their membranes which are delivered to target cells. Reproducible isolation and enrichment of these exosomes will aid in evaluation of cellular communication. We present an approach that involved the pre-processing of plasma, combined with ultracentrifugation (UC) and size exclusion chromatography (SEC) to isolate EVs and subsequently enrich exosomes. Four variations of this approach (denoted methods I to IV) were compared. Coupling an ultracentrifugation method with size exclusion chromatography (Method II) provided the best yield by nanoparticle tracking analyses (NTA), the presence of the exosomal markers CD63, Flotillin-1 and TSG-101 (immunoblotting) and showed exosome morphology using transmission electron microscopy (TEM). This method provides an efficient way to enrich the exosomes from blood (plasma), which could be potentially employed for clinical diagnostic assessment and therapeutic intervention.
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d00037f6cfab4221bc08a505c4dfabe5
What is an exosome?
{ "tokens": [ "What", "is", "an", "exosome", "?" ], "offsets": [ 0, 5, 8, 11, 18 ] }
{ "text": [ "Exosomes are a subset of extracellular vesicles (EVs) that have important roles in intercellular communication. They contain and carry bioactive molecules within their membranes which are delivered to target cells." ], "char_spans": [ { "start": [ 0 ], "end": [ 212 ] } ], "token_spans": [ { "start": [ 0 ], "end": [ 32 ] } ] }
[ "Exosomes are a subset of extracellular vesicles (EVs) that have important roles in intercellular communication. They contain and carry bioactive molecules within their membranes which are delivered to target cells." ]
What is an exosome?
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BioASQ
The molecular functions of TMEM132 genes remain poorly understood and under-investigated despite their mutations associated with non-syndromic hearing loss, panic disorder and cancer. Here we show the full domain architecture of human TMEM132 family proteins solved using in-depth sequence and structural analysis. We reveal them to be five previously unappreciated cell adhesion molecules whose domain architecture has an early holozoan origin prior to the emergence of choanoflagellates and metazoa. The extra-cellular portions of TMEM132 proteins contain five conserved domains including three tandem immunoglobulin domains, and a cohesin domain homologue, the first such domain found in animals. These findings strongly predict a cellular adhesion function for TMEM132 family, connecting the extracellular medium with the intracellular actin cytoskeleton. luis.sanchez-pulido@igmm.ed.ac.uk. Supplementary data are available at Bioinformatics online.
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966b0a95d1b84227ac890a3daaef2086
What is the function of the TMEM132 genes?
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{ "text": [ "Cellular adhesion function" ], "char_spans": [ { "start": [ 734 ], "end": [ 759 ] } ], "token_spans": [ { "start": [ 116 ], "end": [ 118 ] } ] }
[ "Cellular adhesion function" ]
What is the function of the [MASK] genes?
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BioASQ
Interleukin-6 (IL-6) is a pleiotropic cytokine implicated in the pathogenesis of many immune-mediated disorders including several types of non-infectious uveitis. These uveitic conditions include Vogt-Koyanagi-Harada syndrome, uveitis associated with Behçet disease, and sarcoidosis. This review summarizes the role of IL-6 in immunity, highlighting its effect on Th17, Th1, and plasmablast differentiation. It reviews the downstream mediators activated in the process of IL-6 binding to its receptor complex. This review also summarizes the biologics targeting either IL-6 or the IL-6 receptor, including tocilizumab, sarilumab, sirukumab, olokizumab, clazakizumab, and siltuximab. The target, dosage, potential side effects, and potential uses of these biologics are summarized in this article based on the existing literature. In summary, anti-IL-6 therapy for non-infectious uveitis shows promise in terms of efficacy and side effect profile.
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a00c444bb61f44519190db6046039820
Which interleukin is blocked by Siltuximab?
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{ "text": [ "interleukin-6" ], "char_spans": [ { "start": [ 0 ], "end": [ 12 ] } ], "token_spans": [ { "start": [ 0 ], "end": [ 0 ] } ] }
[ "interleukin-6" ]
Which interleukin is blocked by [MASK]?
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BioASQ
Imatinib mesylate (IM) binds to the BCR-ABL protein, inhibiting its kinase activity and effectively controlling diseases driven by this kinase. IM resistance has been associated with kinase mutations or increased BCR-ABL expression. However, disease progression may be mediated by other mechanisms that render tumor cells independent of BCR-ABL. To demonstrate this potential, IM-resistant cells were found in chronic myelogenous leukemia patients with continuous BCR-ABL gene expression but undetectable BCR-ABL protein expression. These cells were unresponsive to IM and acquired BCR-ABL-independent signaling characteristics. IM resistance in some patients may be mediated through loss of kinase target dependence.
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7887f12a541643aebe9893f82a5f0c28
What tyrosine kinase, involved in a Philadelphia- chromosome positive chronic myelogenous leukemia, is the target of Imatinib (Gleevec)?
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[ "BCR-ABL" ]
What tyrosine kinase, involved in a Philadelphia- chromosome positive chronic myelogenous leukemia, is the target of Imatinib (Gleevec)?
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BioASQ
The susceptibility to arbekacin (ABK) of methicillin-resistant Staphylococcus aureus (MRSA) was investigated to find out how it related to aac(6')/aph(2") gene. In 49 isolates of MRSA for which MIC of ABK ranged from 0.125 to 64 micrograms/ml, the MICs of ABK for 38 strains carrying aac(6')/aph(2") gene were widely distributed from 0.25 to 64, whereas those for 11 strains without that gene were all < or = 0.5 microgram/ml. Residual rate of ABK activity was higher than that of gentamicin after the reaction with each crude enzyme preparation extracted from 3 isolates of MRSA, carrying aac(6')/aph(2") and aad(4',4") genes. Furthermore, 97 strains of MRSA isolated at Kanagawa prefecture in Japan in 1999 were all sensitive to ABK, although 28 strains of them carried aac(6')/aph(2") gene. These results showed that ABK resistance was not necessarily related to carrying aac(6')/aph(2") gene in clinical isolates of MRSA.
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c28f41488c09478c988e4e82f733d188
What is MRSA?
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[ "methicillin-resistant S. aureus", "MRSA" ]
What is MRSA?
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BioASQ
Flumazenil is indicated for reversal of sedation from benzodiazepines administered during therapeutic or diagnostic procedures and during induction or maintenance of general anesthesia, as well as for benzodiazepine overdose. Bolus doses of flumazenil are usually adequate to achieve reversal; however, when medical conditions may lead to a prolonged half-life of the benzodiazepine involved, continuous infusion may be warranted. A 67-year-old man with chlordiazepoxide toxicity required a 9-day infusion of flumazenil to prevent resedation and respiratory insufficiency; he initially was admitted to the hospital for alcohol detoxification. Concomitant medical conditions and the metabolism characteristics of each benzodiazepine must dictate the agent of choice. When measures are required to ensure adequate recovery of a patient's respiratory function and mental awareness, such as in patients with benzodiazepine toxicity, consideration of continuous-infusion flumazenil is warranted.
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f432b5bc07f54ef7aca42e75d115e658
Which drug should be used as an antidote in benzodiazepine overdose?
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[ "flumazenil" ]
Which drug should be used as an antidote in benzodiazepine overdose?
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BioASQ
Posterior cruciate ligament (PCL) injuries have a reported incidence of between 3 and 37%, depending on the clinical setting. The most common mechanism of injury in motor vehicle accidents is a dashboard injury or direct force to the proximal anterior tibia. Sports related injuries result from hyperflexion of the knee with the foot typically plantarflexed. The latter mechanism is the most common cause of isolated PCL injuries, while in the trauma population as many as 95% of patients with knee injuries have combined ligamentous damage. Improved knowledge at an anatomical, biomechanical and clinical level has provided the orthopaedist with a more defined treatment algorithm. Isolated, partial PCL injuries (grades I and II) can best be treated nonoperatively while complete injuries (grade III) may require operative treatment based on clinical symptoms. All combined ligamentous injuries usually respond best with surgical management.
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39e074f0b0694efe8d9c2907bb62096b
Which ligament is most commonly injured in dashboard injury?
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[ "Posterior cruciate ligament" ]
Which ligament is most commonly injured in dashboard injury?
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BioASQ
Treslin/TICRR (TopBP1-interacting, replication stimulating protein/TopBP1-interacting, checkpoint, and replication regulator), the human ortholog of the yeast Sld3 protein, is an essential DNA replication factor that is regulated by cyclin-dependent kinases and the DNA damage checkpoint. We identified MDM two binding protein (MTBP) as a factor that interacts with Treslin/TICRR throughout the cell cycle. We show that MTBP depletion by means of small interfering RNA inhibits DNA replication by preventing assembly of the CMG (Cdc45-MCM-GINS) holohelicase during origin firing. Although MTBP has been implicated in the function of the p53 tumor suppressor, we found MTBP is required for DNA replication irrespective of a cell's p53 status. We propose that MTBP acts with Treslin/TICRR to integrate signals from cell cycle and DNA damage response pathways to control the initiation of DNA replication in human cells.
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470f42e7c572482a84dd8e9d4a279059
Which factor interacts with Treslin/TICRR throughout the cell cycle of human cells?
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{ "text": [ "MDM two binding protein (MTBP)" ], "char_spans": [ { "start": [ 303 ], "end": [ 331 ] } ], "token_spans": [ { "start": [ 50 ], "end": [ 55 ] } ] }
[ "MDM two binding protein (MTBP)" ]
Which factor interacts with Treslin/TICRR throughout the cell cycle of human cells?
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BioASQ
A study was performed to determine the utility of the 8-point recognition of stroke in the emergency room (ROSIER) instrument as a diagnostic tool in a large Irish emergency department. Fifty patients had ROSIER scores completed by doctors. Diagnoses achieved using the score were compared with discharge diagnoses. Relations between ROSIER score, impairment and length of stay were assessed. Forty-seven patients (94%) had a ROSIER Score > or =1 indicating a stroke, 44 (94%) of these had stroke confirmed on investigation. Two patients with stroke were missed and three were wrongly identified. Positive predictive value for the ROSIER was 94%. ROSIER correlated with Scandinavian neurological stroke score. (r = -0.414, p = 0.003) and was associated with increasing length of stay in survivors (p = 0.16, one-way ANOVA. F = 3.116, df = 6). The ROSIER is a suitable and useful adjunct in the assessment of stroke patients in Ireland.
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84e440c52ada4da9ab59b02ebf6421e1
ROSIER scale is used for which disorder?
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[ "stroke" ]
ROSIER scale is used for which disorder?
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BioASQ
The product of the multiple endocrine neoplasia type 1 (MEN1) tumor suppressor gene, menin, is an integral component of MLL1/MLL2 histone methyltransferase complexes specific for Lys4 of histone H3 (H3K4). We show that menin is a transcriptional coactivator of the nuclear receptors for estrogen and vitamin D. Activation of the endogenous estrogen-responsive TFF1 (pS2) gene results in promoter recruitment of menin and in elevated trimethylation of H3K4. Knockdown of menin reduces both activated TFF1 (pS2) transcription and H3K4 trimethylation. In addition, menin can directly interact with the estrogen receptor-alpha (ERalpha) in a hormone-dependent manner. The majority of disease-related MEN1 mutations prevent menin-ERalpha interaction. Importantly, ERalpha-interacting mutants are also defective in coactivator function. Our results indicate that menin is a critical link between recruitment of histone methyltransferase complexes and nuclear receptor-mediated transcription.
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70cf419b833d4e9abc7eac1c6be3673c
Which is the histone residue methylated by MLL1?
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[ "H3K4" ]
Which is the histone residue methylated by [MASK]?
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BioASQ
Genome-wide association studies (GWASs) have successfully identified many sequence variants that are significantly associated with common diseases and traits. Tens of thousands of such trait-associated SNPs have already been cataloged, which we believe form a great resource for genomic research. Recent studies have demonstrated that the collection of trait-associated SNPs can be exploited to indicate whether a given genomic interval or intervals are likely to be functionally connected with certain phenotypes or diseases. Despite this importance, currently, there is no ready-to-use computational tool able to connect genomic intervals to phenotypes. Here, we present traseR, an easy-to-use R Bioconductor package that performs enrichment analyses of trait-associated SNPs in arbitrary genomic intervals with flexible options, including testing method, type of background and inclusion of SNPs in LD. The traseR R package preloaded with up-to-date collection of trait-associated SNPs are freely available in Bioconductor zhaohui.qin@emory.edu Supplementary data are available at Bioinformatics online.
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4c0b847bbf21420988f6bc921c0b8906
Which R / bioconductor package is used for performing SNP enrichment analysis?
{ "tokens": [ "Which", "R", "/", "bioconductor", "package", "is", "used", "for", "performing", "SNP", "enrichment", "analysis", "?" ], "offsets": [ 0, 6, 8, 10, 23, 31, 34, 39, 43, 54, 58, 69, 77 ] }
{ "text": [ "traseR" ], "char_spans": [ { "start": [ 910, 673 ], "end": [ 915, 678 ] } ], "token_spans": [ { "start": [ 156, 113 ], "end": [ 156, 113 ] } ] }
[ "traseR" ]
Which R / bioconductor package is used for performing SNP enrichment analysis?
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BioASQ
The FOXP2 gene is important for the development of proper speech motor control in humans. However, the role of the gene in general vocal behavior in other mammals, including mice, is unclear. Here, we track the vocal development of Foxp2 heterozygous knockout (Foxp2+/-) mice and their wildtype (WT) littermates from juvenile to adult ages, and observe severe abnormalities in the courtship song of Foxp2+/- mice. In comparison to their WT littermates, Foxp2+/- mice vocalized less, produced shorter syllable sequences, and possessed an abnormal syllable inventory. In addition, Foxp2+/- song also exhibited irregular rhythmic structure, and its development did not follow the consistent trajectories observed in WT vocalizations. These results demonstrate that the Foxp2 gene is critical for normal vocal behavior in juvenile and adult mice, and that Foxp2 mutant mice may provide a tractable model system for the study of the gene's role in general vocal motor control.
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9d3f3ba44ee44d29bc6fd1b262200ffb
Which gene is responsible for proper speech development?
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[ "FOXP2" ]
Which gene is responsible for proper speech development?
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