index int64 0 4.29k | question stringlengths 13 192 | answer stringlengths 3 3.15k | relevant_passage_ids stringlengths 8 1.57k | id int64 100 4.72k | context stringlengths 2 156k |
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0 | What is the function of the AIRE gene at the embryonic stage? | Aire regulates the expression of differentiation-associated genes and self-renewal of embryonic stem cells. Aire and Deaf1 help regulate the ectopic expression of diverse tissue-specific antigens to establish self-immune tolerance. Knockdown of Aire in mouse ESCs resulted in significantly decreased clone-forming effici... | [19008896, 21952165, 22540148, 20226168, 19302042] | 100 | The negative selection of T cells in the thymus is necessary for the maintenance of self tolerance. Medullary thymic epithelial cells have a key function in this process as they express a large number of tissue-specific self antigens that are presented to developing T cells. Mutations in the autoimmune regulator (AIRE)... |
1 | What is the principle of the PAR-CLIP methodology? | In particular, PAR-CLIP utilizes a photoactivatable nucleoside for more efficient crosslinking. A recent method, PAR-CLIP, uses photoreactive nucleosides to crosslink RBPs to target RNAs in cells prior to immunoprecipitation. One characteristic feature of cDNA libraries prepared by PAR-CliP is that the precise positi... | [21559008, 23706177, 22213601, 24297251, 22152485, 22844102, 21851591, 21816340, 20371350, 21572407, 22885304, 20644507, 23368412, 22926237] | 101 | The unique composition and spatial arrangement of RNA-binding proteins (RBPs) on a transcript guide the diverse aspects of post-transcriptional regulation. Therefore, an essential step towards understanding transcript regulation at the molecular level is to gain positional information on the binding sites of RBPs. Prot... |
2 | Which drugs are utilized to treat amiodarone-induced thyroitoxicosis? | Amiodarone-induced thyrotoxicosis treatment includes anti-thyroid drugs and steroid therapy
Radio Iodine Treatment (RIT) may be a safe and useful method of AIT therapy in patients with low RAIU, in whom other treatment methods are contraindicated.
Lithium is a useful and safe medication for treatment of iodine-induced ... | [2781955, 12727944, 21135419, 9217642, 11901034, 16910349, 7946779, 16544025, 19675515] | 102 | Treatment of amiodarone-induced thyrotoxicosis (AIT) with thionamide, lithium or radioactive iodine is ineffective. This particular form of hyperthyroidism is long-lasting because of the slow elimination of amiodarone. Therefore, an alternative therapy is necessary, especially for patients who need to continue permanen... |
3 | How is spastic diplegia diagnosed? | Diagnosis of spastic diplegia is mainly carried out with through clinical gait analysis (CGA), with variations such as 1-minute walk, LSU, and 10-meter walk tests, or Gross Motor Function Measure-88 (GMFM-88). Other methods used for evaluation of patients include brain magnetic resonance imaging (MRI) and motor functio... | [24901761, 21310339, 25276040, 24239880, 17826455, 20829081, 10427678, 1743414, 23085499, 25700542, 24409030, 24182356, 16344032, 2816867, 15157997, 23121133, 2600179, 7270517, 12549749, 17509240] | 103 | Argininemia is caused by a deficiency of arginase 1, which catalyzes the final step in the urea cycle, i.e., the cytosolic hydrolysis of arginine to ornithine and urea. In contrast to other urea cycle disorders, hyperammonemic encephalopathy is rarely observed in patients with argininemia. Rather, most exhibit an insid... |
4 | Which is the genetic defect causing Neurofibromatosis type 1? | Neurofibromatosis type 1 (NF1) is due to all types of mutations in the neurofibromin (NF1) gene. | [14722917, 2129297, 16323217, 21567923, 16835897] | 104 | One of the main features of neurofibromatosis type 1 (NF1) is benign neurofibromas, 10-20% of which become transformed into malignant peripheral nerve sheath tumors (MPNSTs). The molecular basis of NF1 tumorigenesis is, however, still unclear. Ninety-one tumors from 31 NF1 patients were screened for gross changes in th... |
5 | Which is the human selenoprotein that contains several Se-Cys residues? | Selenoprotein P, that contains 10 selenocysteines. | [19345254, 11122377, 10692426, 7637580, 20417644, 15104205, 9288402, 17000762, 15777501] | 105 | Selenoprotein P (Sepp1) is a secreted protein that is made up of 2 domains. The larger N-terminal domain contains 1 selenocysteine residue in a redox motif and the smaller C-terminal domain contains the other 9 selenocysteines. Sepp1 isoforms of varying lengths occur but quantitation of them has not been achieved. Hepa... |
6 | Which package is available for analysing genomic interactions in R/Bioconductor? | r3Cseq is an R/Bioconductor package designed to perform 3C-seq data analysis in a number of different experimental designs. The package reads a common aligned read input format, provides data normalization, allows the visualization of candidate interaction regions and detects statistically significant chromatin interac... | [23671339] | 106 | The coupling of chromosome conformation capture (3C) with next-generation sequencing technologies enables the high-throughput detection of long-range genomic interactions, via the generation of ligation products between DNA sequences, which are closely juxtaposed in vivo. These interactions involve promoter regions, en... |
7 | Are stress granules involved in the pathogenesis of Amyotrophic Lateral Sclerosis? | Stress granules are cytoplasmic inclusions that repress translation of a subset of RNAs in times of cellular stress, and several proteins implicated in neurodegeneration (i.e. Ataxin-2 and SMN) interact with stress granules. Mutant FUS proteins that cause amyotrophic lateral sclerosis incorporate into stress granules. ... | [26557057, 23474818, 23629963, 25888396, 25429138, 24297750, 24090136, 20606625, 24920614, 21173160, 24336168, 20674093, 20699327, 19765185, 23257289, 25216585, 24312274, 22405725, 24013423, 23152885] | 108 | Stress granules (SGs) are RNA-containing cytoplasmic foci formed in response to stress exposure. Since their discovery in 1999, over 120 proteins have been described to be localized to these structures (in 154 publications). Most of these components are RNA binding proteins (RBPs) or are involved in RNA metabolism and ... |
8 | Does TGF-beta play a role in cardiac regeneration after myocardial infarction? | TGFβ signaling orchestrates the beneficial interplay between scar-based repair and cardiomyocyte-based regeneration to achieve complete heart regeneration. | [18985280, 17322368, 19966054, 15883211, 23293297, 10198196, 16842199, 12374778, 22513374] | 109 | Macrophages have been suggested to be beneficial for myocardial wound healing. We investigated the role of macrophages in myocardial wound healing by inhibition of macrophage infiltration after myocardial injury. We used a murine cryoinjury model to induce left ventricular damage. Infiltrating macrophages were depleted... |
9 | Is there a genetic component for happiness? | Results of studies on genetic factors indicated an average effectiveness of genetic about 35 -50 percent on happiness. The MAOA gene predicts happiness in women. The heritability of happiness was estimated at 22% for males and 41% in females. | [20440640, 19728071, 26060713, 20981772, 20397744, 23769682, 24690898, 22885141, 19569406] | 110 | Subjective Wellbeing (SWB) can be assessed with distinct measures that have been hypothesized to represent different domains of SWB. The current study assessed SWB with four different measures in a genetically informative sample of adolescent twins and their siblings aged 13-28 years (N = 5,024 subjects from 2,157 fami... |
10 | What enzyme is inhibied by Opicapone? | Opicapone is a novel catechol-O-methyltransferase (COMT) inhibitor to be used as adjunctive therapy in levodopa-treated patients with Parkinson's disease | [24925090, 23248072, 24148813, 23336248, 24271646] | 111 | BACKGROUND AND OBJECTIVES: Opicapone is a novel third generation catechol-O-methyltransferase (COMT) inhibitor. The purpose of this study was to compare the levodopa pharmacokinetic profile throughout a day driven by the COMT inhibition either following repeated doses of opicapone or concomitant administration with ent... |
11 | What kind of affinity purification would you use in order to isolate soluble lysosomal proteins? | The rationale for purification of the soluble lysosomal proteins resides in their characteristic sugar, the mannose-6-phosphate (M6P), which allows an easy purification by affinity chromatography on immobilized M6P receptors. | [15789345, 17258946, 18370023, 18507433, 11079561, 16145712, 16399764, 22158965, 18977398, 19383612, 16709564] | 112 | The lysosome is a membrane delimited cytoplasmic organelle that contains at least 50 hydrolytic enzymes and associated cofactors. The biomedical importance of these enzymes is highlighted by the many lysosomal storage disorders that are associated with mutations in genes encoding lysosomal proteins, and there is also e... |
12 | Which are the genes thought to be regulated by EWS/FLI? | The EWS/FLI translocation product is the causative oncogene in Ewing sarcoma and acts as an aberrant transcription factor. EWS/FLI dysregulates gene expression during tumorigenesis by abnormally activating or repressing genes. The expression levels of a significant number of genes are affected in Ewing sarcoma, some of... | [23527175, 16697960, 17114343, 18927503, 15492248, 19920188, 19718047] | 113 | The EWS/FLI translocation product is the causative oncogene in Ewing sarcoma and acts as an aberrant transcription factor. EWS/FLI dysregulates gene expression during tumorigenesis by abnormally activating or repressing genes. The expression levels of thousands of genes are affected in Ewing sarcoma, however, it is unk... |
13 | Do archaeal genomes contain one or multiple origins of replication? | Some archaea replicate from single origins but most archaea and all eukaryotes replicate using multiple origins. | [17956224, 23375370, 17350933, 18922777, 16249118, 15197606, 22978470, 16321966, 17392430, 24185008, 14526006, 20978102, 2541880, 21364800, 20850498, 15337158, 21784908, 12237132, 22942672, 12646230, 15876567, 20667100, 17511521, 11967086, 16980466, 22812406, 11521661] | 114 | Chromosomes with multiple DNA replication origins are a hallmark of Eukaryotes and some Archaea. All eukaryal nuclear replication origins are defined by the origin recognition complex (ORC) that recruits the replicative helicase MCM(2-7) via Cdc6 and Cdt1. We find that the three origins in the single chromosome of the ... |
14 | Which pathological conditions are caused by mutations in the CYLD gene? | Since loss of CYLD expression can be observed in different types of human cancer, it is now well established that CYLD acts as a tumor suppressor gene. Pathogenic mutations in CYLD can be identified in patients affected with Brooke-Spiegler syndrome, (Familial) Cylindromatosis or multiple familial trichoepithelioma. CY... | [19917957, 20151946, 21389835, 19911186, 12190880, 21552290, 23404581, 21598248, 19730223, 19076795, 17851586, 20132422, 22077640, 20972631, 23426135, 18806492, 15541090, 17083363, 23694822, 16922728, 15024746, 20607853, 19668078, 20838385, 21577203, 23641715, 21345146] | 115 | Multiple familial trichoepitheliomas (MFT) constitute an autosomally inherited syndrome possibly related to Brooke-Spiegler syndrome (BSS). Although some early studies suggested a role for the PTCH gene on chromosome 9q22.3 in the etiopathogenesis of MFT, recent studies of occasional patients with the MFT clinical phen... |
15 | Which is the genetic basis of Spinal Muscular Atrophy (SMA)? | The molecular genetic basis of spinal muscular atrophy (SMA), an autosomal recessive neuromuscular disorder, is the loss of function of the survival motor neuron gene (SMN1). Mutations of the SMN1 gene are responsible for SMA. A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular... | [22323744, 19062530, 22628388, 9073029, 20225030, 12220455, 12115944, 17076267, 9731538, 19646678, 11442327, 10339583] | 116 | OBJECTIVE: We report the cases of 2 patients with late-onset spinal muscular atrophy (SMA) type III, who were hemizygous for SMN1 deletion and carriers of novel SMN1 intragenic missense mutations, and we investigate the genotype-phenotype relationship. METHODS: Patients were tested for SMN1 deletions with standard meth... |
16 | Which are the common symptoms of Cushing's syndrome? | Cushing syndrome is the constellation of signs and symptoms caused by protracted exposure to glucocorticoids. Presenting features commonly include weight gain, growth retardation, hirsutism, obesity, striae, acne and hypertension. | [17322955, 24062268] | 117 | CONTEXT: Carney complex (CNC), a familial multiple neoplasm syndrome with dominant autosomal transmission, is characterized by tumors of the heart, skin, endocrine and peripheral nervous system, and also cutaneous lentiginosis. This is a rare syndrome and its main endocrine manifestation, primary pigmented nodular adre... |
17 | Which kinase is inhibited by the small molecule KN-93? | The calcium/calmodulin-dependent protein kinase-II (CaMK-II) is inhibited by the small molecule KN-93. KN-93 is a membrane-permeant calcium/calmodulin- dependent kinase II (CaMK-II)-selective inhibitor | [9596994, 15175389, 1662507, 21187407, 11827960, 11248432, 10712242, 8939965, 15569687, 16896952, 22290426, 17457979, 14749212, 9864285, 7690557, 11164895] | 119 | The calmodulin-dependent protein kinase-II (CaMK-II) inhibitor KN-93 has been shown to reversibly arrest mouse and human cells in the G1 phase of the cell cycle [Tombes, R. M., Westin, E., Grant. S., and Krystal, G. (1995) Cell Growth Differ. 6, 1073-1070; Rasmussen, G., and Rasmussen, C. (1995) Biochem. Cell Biol. 71,... |
18 | What is the effect of Chk2 splice variants on wild-type Chk2 kinase activity? | Chk2 splice variants have been demonstrated to exert a dominant-negative effect on wild-type Chk2 kinase activity. | [20080130] | 120 | While the majority of RNA transcripts from protein-encoding genes in the human genome are subject to physiological splicing, pathological splicing is increasingly reported in cancer tissue. Previously, we identified >90 different splice variants of Chk2, a gene encoding a serine/threonine kinase propagating the DNA dam... |
19 | List genes that have been found mutated in CMT1A (Charcot-Marie-Tooth disease type 1 A). | PMP22 is the common gene found mutated through a duplication in CMT1A. Other genes are
MPZ and SH3TC2 | [25519680, 25150498, 25522693, 24819634, 25500726, 25400662, 25430934, 25385046, 25429913] | 121 | Charcot-Marie-Tooth (CMT) diseases include a group of clinically heterogeneous inherited neuropathies subdivided into demyelinating (CMT1), axonal (CMT2) and intermediate CMT forms. CMTs are associated with different genes, although mutations in some of these genes may cause both clinical pictures. To date, more than 5... |
20 | Which viruses are best known to cause myocarditis? | The most frequent viruses causing myocarditis are Enterovirus, Adenovirus and Coxsackie B viruses. | [18039618, 8199011, 3889351, 18277927, 2641165, 14993139] | 122 | Enteroviruses have been considered to be the most common cause of acute myocarditis and possible consequence of dilated cardiomyopathy. Some publications shed light to the role of other viruses in this disease as well. Our molecular investigation has demonstrated that adeno- and herpes viruses might also frequently occ... |
21 | Which genes have been associated with Cerebral Cavernous Malformation? | Loss-of-function mutations in genes encoding CCM1 (also known as KRIT1), CCM2 (also known as OSM and malcavernin) or CCM3 (also known as PDCD10) cause cerebral cavernous malformations (CCMs). | [25122144, 15543491, 25086949, 14697511, 24990152, 11310633, 12140362, 25451273, 12172908, 24287896, 16465592, 24481819, 26246098, 24466005, 20592472, 12877753, 16100539, 24251678] | 123 | PURPOSE: The phenotypic manifestations of cerebral cavernous malformation disease caused by rare PDCD10 mutations have not been systematically examined, and a mechanistic link to Rho kinase-mediated hyperpermeability, a potential therapeutic target, has not been established. METHODS: We analyzed PDCD10 small interferin... |
22 | Is DITPA a thyroid hormone analog utilized in experimental and clinical studies | There is very large body of evidence that DITPA is a true thyroid hormone analog, largely utilized in experimental and clinical studies. | [17710084, 15454853, 1403782, 10749704, 20192904, 22993035, 9069582, 16616210, 19286941, 21215270, 10474790, 9618233, 15148346, 19506112, 20080837, 12145478, 15572044, 15072976, 19903697, 10710355, 7828308, 21131480, 18353884, 16384862, 17612639, 8353891, 11040100, 21658725, 18954857, 12414442, 8936682, 18030062, 12165... | 124 | Thyroid hormone (T3 and T4) has many beneficial effects including enhancing cardiac function, promoting weight loss and reducing serum cholesterol. Excess thyroid hormone is, however, associated with unwanted effects on the heart, bone and skeletal muscle. We therefore need analogs that harness the beneficial effects o... |
23 | What is Tarlov Cyst? | Tarlov or perineural cysts are nerve root cysts found most commonly at the sacral spine level arising between covering layers of the perineurium and the endoneurium near the dorsal root ganglion and are usually asymptomatic. | [10758434, 21139800, 21830055, 19110185, 25191117, 23400656, 25216402, 11453427, 20102100, 20712856, 19569467] | 125 | We report the case of a 40-year-old man remitted to our department with a history of lower back pain and sciatica with no history of trauma. The laboratory analyses showed normal values whereas plain radiographs showed a sacrum rarefaction area. A 99mTc-MDP bone scintigraphy was performed to evaluate the lumbosacral ar... |
24 | What are 'vildagliptin', 'sitagliptin', 'saxagliptin', 'alogliptin', 'linagliptin', and 'dutogliptin'? | "Sitagliptin," "vildagliptin," "saxagliptin," "alogliptin," "linagliptin," and "dutogliptin" are dipeptidyl peptidase-4 (DPP-4) inhibitors. | [24793219, 23803146, 21913883, 21500969, 24996141, 25860270, 23501107, 21431099, 21320267, 23743694, 22686547, 19791828, 22429011, 22215383, 24567800, 25687897, 18223196, 23140189, 20690781, 24320733, 23136353, 22106978, 22162539, 24793580, 23837679, 17100408, 24186878] | 126 | BACKGROUND: In studying the therapeutic evidence of innovative drug treatments, increasing attention is being devoted to differentiating between results that indicate no significant differences among the treatments under examination ("no proof of difference") and results that demonstrate the therapeutic equivalence amo... |
25 | Which is the most important prognosis sub-classification in Chronic Lymphocytic Leukemia? | The mutational status of the immunoglobulin heavy variable (IGHV) genes, defines two subsets: mutated and unmutated CLL. Unmutated CLL patients show a shorter progression-free and overall survival than mutated CLL patients. | [19500131, 17786276, 16014569, 23468975, 16083281, 20353875, 22560084, 16825496, 19127482, 20090781] | 127 | In B-cell chronic lymphocytic leukemia (CLL), Rai stage, immunoglobulin gene mutational status, chromosomal abnormalities, CD38 and ZAP-70 expression were used as prognostic markers. In this study, to understand the molecular basis of chromosomal abnormalities leading to tumor progression, 90 CLL patients were grouped ... |
26 | Is MammaPrint cleared by the United States Food and Drug Administration? | Yes. MammaPrint is cleared by the FDA for breast cancer recurrence. | [21479927, 18786252, 19506735] | 128 | BACKGROUND: Numerous studies have used microarrays to identify gene signatures for predicting cancer patient clinical outcome and responses to chemotherapy. However, the potential impact of gene expression profiling in cancer diagnosis, prognosis and development of personalized treatment may not be fully exploited due ... |
27 | Is amantadine effective for treatment of disorders conciousness? | Amantadine, a dopaminergic agent, has been shown to be effective for induction of recovery from disorders of consciousness. Amantadine is a commonly prescribed medication for patients with prolonged disorders of consciousness after traumatic brain injury. Amantadine accelerates the pace of functional recovery during ac... | [24025056, 24025057, 19404190, 22375973, 15825541, 20129511, 20658796, 18540467, 20460949, 19894299, 15759228, 24025054] | 129 | Oxygen based neurotransmitters in the synapses of the brain are proposed to play an important role in the generation of consciousness. They include the amino acids glutamate and GABA which use Krebs cycle precursors for their synthesis, and the monoamines dopamine, noradrenalin, adrenalin and serotonin, which are deriv... |
28 | What is needed for MMP proteins to be functional? | Extracellular matrix metalloproteinases (MMPs) are a family of zinc-dependent neutral endopeptidases. | [24570026, 26087627, 23001203, 26150355, 26013370, 25360794, 22257051] | 130 | RATIONALE: The structural and functional integrity of the endothelium is crucial in maintaining vascular homeostasis and preventing atherosclerosis. Patients with systemic lupus erythematosus (SLE) have an increased risk of developing endothelial dysfunction and premature cardiovascular disease. Neutrophil extracellula... |
29 | What is hyperosmia | Hyperosmia is increased olfactory acuity | [24302690, 23520356, 21250223] | 131 | Hyperosmia is suspected in pregnancy; however, no empirical study using validated measures of olfactory function has clearly confirmed the anecdotal reports of this phenomenon. The goal of the current study is to compare the olfactory sensitivity of pregnant women to that of nonpregnant women and men. All participants ... |
30 | What is the number of long non coding RNAs in the human genome | Different estimates put currently the number of human long non coding RNAs between 10,000 and 20,000 | [23126680, 23846593, 23369519] | 132 | Long noncoding RNAs (lncRNAs) have been detected in nearly every cell type and found to be fundamentally involved in many biological processes. The characterization of lncRNAs has immense potential to advance our comprehensive understanding of cellular processes and gene regulation, along with implications for the trea... |
31 | Which is the most known bacterium responsible for botulism (sausage-poisoning)? | Botulism is a severe neuroparalytic disease caused by botulinum neurotoxin (BoNT), and affects humans, all warm-blooded animals, birds, and some fishes. Botulinum toxin is produced under anaerobic conditions by the bacterium Clostridium botulinum, which is the most known etiological agent of the disease, and some other... | [24961027, 21171846, 21975066, 24252701, 20961439, 18388640, 15839401, 23239346, 23523511, 24253240, 23421373, 17458494, 24252222, 19573697, 24206405, 21747146, 11153358, 24246230, 23971804, 23971806, 23971808, 15027048, 20569065, 21130733, 24997242, 16080379, 23025151] | 133 | Botulism is a rare but potentially life-threatening neuroparalytic syndrome resulting from the action of a neurotoxin elaborated by the microorganism Clostridium botulinum. This disease has a lengthy history; the first investigation of botulism occurred in the 1820s with a case report on hundreds of patients with "saus... |
32 | What is the association of spermidine with α-synuclein neurotoxicity? | Spermidine protects against α-synuclein neurotoxicity. In the fruit fly, simple feeding with spermidine inhibited loss of climbing activity and early organismal death upon heterologous expression of human α-synuclein, which is thought to be the principal toxic trigger of Parkinson's Disease (PD). In this line, administ... | [22662273, 25483063] | 134 | As our society ages, neurodegenerative disorders like Parkinson`s disease (PD) are increasing in pandemic proportions. While mechanistic understanding of PD is advancing, a treatment with well tolerable drugs is still elusive. Here, we show that administration of the naturally occurring polyamine spermidine, which decl... |
33 | List symptoms of 4H leukodystrophy. | Hypomyelination, hypodontia, and hypogonadotropic hypogonadism are major symptoms of 4H leukodystrophy. | [21855841, 18671210, 25339210, 23242285, 23307887, 24190003, 22451160, 22855961] | 135 | AIM: To report one patient with slowly progressive encephalopathy, ataxia, central hypomyelination, hypodontia and hypogonadotropic hypogonadism, the 4H syndrome. This clinical picture has been described recently and there are only four patients reported previously. CASE REPORT: A girl with a previously normal early ps... |
34 | What is the extracellular core "matrisome"? | The "matrisome" is defined as the ensemble of extracellular matrix proteins (ECM) proteins and associated factors. The core matrisome have been defined in mammals through the analysis of whole genome sequences and comprises of ~ 300 proteins. | [23539364, 22159717, 21937732] | 136 | The extracellular matrix (ECM) not only provides physical support for tissues, but it is also critical for tissue development, homeostasis and disease. Over 300 ECM molecules have been defined as comprising the "core matrisome" in mammals through the analysis of whole genome sequences. During tooth development, the str... |
35 | Is GAGA associated with nucleosome-free regions (NFR)? | The GAGA factor is a protein known to be involved in the formation and/or maintenance of nucleosome-free regions of chromatin. The interactions of GAGA factor and heat shock factor with their binding sites in chromatin occurred in two modes. Their interaction with binding sites in the nucleosome-free regions did not re... | [8474442, 15579691, 11158316, 7737124] | 137 | Previous analysis of the hsp26 gene of Drosophila melanogaster has shown that in addition to the TATA box and the proximal and distal heat shock elements (HSEs) (centered at -59 and -340, relative to the start site of transcription), a segment of (CT)n repeats at -135 to -85 is required for full heat shock inducibility... |
36 | Which are the plant DNA (cytosine-5) methyltransferase families? | The plant DNA (cytosine-5)methyltransferases are classified into the families: MET, CMT, and the de novo DRM. | [8389441, 21542302, 18640997, 19132393, 21060858, 10845458, 10781108, 17689048, 9680985, 11353082, 20331964, 8152926] | 138 | A plant cytosine methyltransferase cDNA was isolated using degenerate oligonucleotides, based on homology between prokaryote and mouse methyltransferases, and PCR to amplify a short fragment of a methyltransferase gene. A fragment of the predicted size was amplified from genomic DNA from Arabidopsis thaliana. Overlappi... |
37 | Where is the histone variant CENPA preferentially localized? | Centromere protein A (Cenpa for mouse, CENP-A for other species) is an essential histone H3-like protein that localizes to the centromeric region of eukaryotic chromosomes, where it replaces conventional histone H3 and together with centromere-specific-DNA-binding factors directs the assembly of active kinetochores. | [12011073, 18314594, 12953060, 21888900, 20940262, 12217960, 20119530, 10655499, 18411404, 24213134, 23562479, 16314512, 23439889, 12906131, 19778997, 9465302, 9605877, 21508988] | 139 | Poly(ADP-ribose) polymerase-1 (PARP-1) is activated by DNA strand breaks during cellular genotoxic stress response and catalyzes poly(ADP-ribosyl)ation of acceptor proteins. These acceptor proteins include those involved in modulation of chromatin structure, DNA synthesis, DNA repair, transcription, and cell cycle cont... |
38 | In which proteins is the chromodomain present? | The chromodomain (chromatin organizer modifier domain) is a highly conserved motif, 40-50 amino acids in length, present in a wide range of animal and plant proteins involved in chromatin organization. Chromodomain-containing proteins can be classified into boader families based, particularly, on the presence of other ... | [22172672, 17603073, 22033927, 19399177, 22834704, 21953552, 18846226, 22039057, 22855185, 12186646, 12397079, 23448600, 15304225, 21358630, 18725928, 17253929, 21505064, 21278251, 20308527, 22514736, 21623345, 22216243, 23319608, 22223433, 22462537, 22302795, 21211724, 19205716, 11956312, 16412250, 22412383, 18369641,... | 140 | Homologous chromosome pairing is a prerequisite to establish physical linkage between homologs, which is critical for faithful chromosome segregation during meiosis I. The establishment of pairing is genetically separable from subsequent synapsis, defined as stabilization of pairing by the synaptonemal complex (SC). Th... |
39 | What is Genomicus? | Genomicus had been developed as a database and a browser to study gene synteny in modern and ancestral genomes. It allows easy comparative genomic visualization in >150 eukaryote genomes and in four different phyla (Vertebrate, Fungi, Metazoan and Plants). It provides a way to explore spatial information related to gen... | [20185404, 23193262, 25378326] | 141 | Comparative genomics remains a pivotal strategy to study the evolution of gene organization, and this primacy is reinforced by the growing number of full genome sequences available in public repositories. Despite this growth, bioinformatic tools available to visualize and compare genomes and to infer evolutionary event... |
40 | Is amiodarone a class I anti-arrhythmic drug? | Although considered to be a class III anti-arrhythmic, amiodarone also has class I, II and IV actions, which gives it a unique pharmacological and anti-arrhythmic profile | [12491809, 17352036, 11825323, 15989900, 20041841, 21728182, 21626366] | 142 | Class III antiarrhythmic agents have been considered to lengthen the myocardial effective refractory period (ERP) without any significant effects on the conduction velocity. However, recent investigations have clarified the positive or negative dromotropic effects of these agents. Amiodarone, a representative class III... |
41 | Which is the prognostic meaning of delayed enhancement documented in patients hypertrophic cardiomyopathy? | Delayed enhancement by CMR has prognostic value in predicting adverse cardiovascular events among HCM patients, and is associated with cardiovascular mortality, heart failure death, and all-cause mortality in HCM. | [20667520, 19474054, 15861263, 22498326, 19477402, 20688032, 19808288, 22935464, 20102955, 23376948, 18208827, 21498307, 19784900, 18562248, 22128204, 12224720, 22348519, 20339815, 22135401, 22687593, 18204915, 21234292, 20079992, 19740409] | 143 | OBJECTIVES: We sought to establish the prognostic value of a comprehensive cardiovascular magnetic resonance (CMR) examination in risk stratification of hypertrophic cardiomyopathy (HCM) patients. BACKGROUND: With annual mortality rates ranging between 1% and 5%, depending on patient selection, a small but significant ... |
42 | What is the COUGER tool? | COUGER takes as input two sets of genomic regions bound by paralogous TFs, and it identifies a small set of putative co-factors that best distinguish the two sets of sequences. | [24861628] | 144 | Most transcription factors (TFs) belong to protein families that share a common DNA binding domain and have very similar DNA binding preferences. However, many paralogous TFs (i.e. members of the same TF family) perform different regulatory functions and interact with different genomic regions in the cell. A potential ... |
43 | Are there drugs for Tick-borne Encephalitis? | No drug therapy available today | [24035586, 22727684, 23377671, 24159517, 20656033, 23452322, 23638205, 24096319, 22730949, 22535622, 24076358, 24001228, 23259984, 22984545, 23096037, 24225644, 23919605, 24256889, 23697658, 23784447] | 145 | Tick-borne encephalitis (TBE) is a growing public health concern in central and northern European countries. Even though TBE is a notifiable disease in Croatia, there is a significant lack of information in regard to vector tick identification, distribution as well as TBE virus prevalence in ticks or animals. The aim o... |
44 | Is SLC22A3 expressed in the brain? | Yes, SLC22A3 (organic cation transporter (OCT3)) is widely expressed in various organs in humans, and involved in the disposition of many exogenous and endogenous compounds. Several lines of evidence have suggested that OCT3 expressed in the brain plays an important role in the regulation of neurotransmission. | [19702534, 15028779, 19033200, 19280114, 20402963, 18513366, 21352605] | 146 | The polyspecific organic cation transporters OCT1 (SLC22A1), OCT2 (SLC22A2) and OCT3 (SLC22A3) mediate facilitated and bidirectional diffusion of small (< or = 500Da) organic cations with broad specificities for endogenous substrates such as choline, acetylcholine and monoamine neurotransmitters, as well as a variety o... |
45 | Has the protein TIEG1 been associated with apoptosis? | Yes, TIEG1 (also known as KLF10) seems to play a role in regulating apoptosis. | [12788480, 17659279, 14743447, 10471833, 17951258, 23244828, 17729309, 18930345, 21524276, 17308981, 20945337, 18798273, 12065093, 22349513, 22025675, 10573529, 12771931, 20691807, 23815903, 20201061, 21423731, 22563190] | 147 | Nitric oxide serves various roles in mammalian cells, including intracellular signaling and cell killing. To recognize the dynamic molecular changes in response to NO, microarray analysis was applied to human fibroblasts (IMR-90) exposed to sublethal levels of NO. Among the > 300 transcripts induced by NO, we focused o... |
46 | Which is the cellular localization of the protein Opa1? | The Opa1 protein localizes to the mitochondria. | [22579715, 18074630, 20045077, 21983901, 25582749, 24282027, 11847212, 25112877, 12504110, 12123827, 24632637, 21459773, 17545159, 16737747, 20678484, 25744979, 25579226, 21397211, 22406748, 25298396, 20652258, 23906536, 23663851, 21980395, 14970223, 25847151, 24633199, 18281461, 17709430, 11017079, 16413305, 20079867,... | 148 | The mitochondria-shaping protein optic atrophy 1 (OPA1) has genetically distinguishable roles in mitochondrial morphology and apoptosis. The latter depends on the presenilin associated rhomboid like (PARL) protease, essential for the accumulation of a soluble intermembrane space form of OPA1 (IMS-OPA1). Here we show th... |
47 | Which are the drugs utilized for the burning mouth syndrome? | Dopaminergic drugs should be given in patients with BMS.
Catuama reduces the symptoms of BMS and may be a novel therapeutic strategy for the treatment of this disease.
Capsaicin, alpha-lipoic acid (ALA), and clonazepam were those that showed more reduction in symptoms of BMS.
Treatment with placebos produced a respons... | [18976257, 22044166, 9844361, 22040716, 17541900, 1776404, 17287703, 19837207, 11838624, 18343329, 16903201, 2811814, 22344742, 22092585, 24164777, 23772971, 1508523, 22957483, 8323246, 7629360, 11441716, 10431669, 21743413, 20415927, 18588600, 21743415, 10625850, 2726203, 22750263, 21528119, 17559486, 11871678, 205979... | 149 | OBJECTIVE: To study the cost-effectiveness of four alternative treatments for burning mouth syndrome (BMS). METHODS: A cost-effectiveness analysis was conducted from a healthcare payer perspective of four therapy strategies (amisulpride, paroxetine, sertraline and topical clonazepam), using a decision-tree model that i... |
48 | Is PTEN involved in follicular thyroid carcinoma? | The PTEN mutation frequency in unselected cases of follicular thyroid carcinoma was 4.8%. | [16487009, 9790504, 12203792, 11297621, 18055323, 21417916, 9832031] | 150 | The PTEN (MMAC1/TEP1) tumor suppressor gene was recently isolated and mapped to human chromosome band 10q23. Homozygous deletions and mutations of PTEN were observed in cell lines and sporadic cancers of the breast, kidney, and central nervous system. Germline mutations in PTEN were recently found in Cowden disease, an... |
49 | Which genome browser database for DNA shape annotations is available? | The Genome Browser for DNA shape annotations (GBshape; freely available at http://rohslab.cmb.usc.edu/GBshape/) provides minor groove width, propeller twist, roll, helix twist and hydroxyl radical cleavage predictions for the entire genomes of 94 organisms. Additional genomes can easily be added using the GBshape frame... | [25326329] | 151 | Many regulatory mechanisms require a high degree of specificity in protein-DNA binding. Nucleotide sequence does not provide an answer to the question of why a protein binds only to a small subset of the many putative binding sites in the genome that share the same core motif. Whereas higher-order effects, such as chro... |
50 | What is known about clinical efficacy of ceftriaxone for treatment of amyotrophic lateral sclerosis? | There have been a few case reports to suggest that ceftriaxone can be effective for treatment of amyotrophic lateral sclerosis. However, other case reports did not report clinical benefit of ceftriaxone therapy for ALS. Ceftriaxone has been reported to reduce neuronal damage in amyotrophic lateral sclerosis a through i... | [18326497, 22680643, 16723044, 19697382, 16832072, 17212618, 15907788, 20638444, 23613806, 19008722, 24771634, 15635412, 25297012, 19694903, 8161465, 21970974] | 152 | Emerging evidence indicates that many aspects of alcohol and drug dependence involve changes in glutamate transmission. A number of studies have reported that drugs of abuse, including alcohol and cocaine, alter glutamate transport. Extracellular glutamate is regulated by a number of glutamate transporters in various b... |
51 | What is the relationship between TailorX and Oncotype? | The TAILORx trial uses the Oncotype DX recurrence score to assign estrogen receptor-positive (ER+), node-negative patients to chemotherapy plus hormonal therapy versus hormonal therapy alone. | [25240289, 18922117, 20665886, 23411384, 23643806] | 153 | INTRODUCTION: The use of chemotherapy in node-negative, (O)Estrogen Receptor (ER)-positive breast cancer has changed significantly since the introduction of Oncotype DX to determine systemic recurrence risk based on tumour genomic signature. AIMS: This study aims to METHODS: A cohort study was undertaken, including con... |
52 | Does strenuous physical activity affect thyroid hormone metabolism? | YES | [18057380, 16175495, 2807143, 8743723, 8325717, 7198038, 596247, 14637241, 3101339] | 154 | Thyroid hormones are important regulators of energy metabolism and may influence energy processes during physical exercise. There are controversial results concerning thyroid hormone metabolism during strenuous exercise in adult athletes and only scant data concerning the impact of strenuous exercise on thyroid hormone... |
53 | Which is the main function of "RNA sponges"? | Natural RNA circles function as efficient microRNA sponges. Recently, miRNA activity has been shown to be affected by the presence of miRNA sponge transcripts, the so-called competing endogenous RNA in humans and target mimicry in plants. | [23446346, 25957803, 23615404, 25483404, 25630703, 25404635, 26052092, 25580223] | 155 | Author information: (1)Institute for Molecular Infection Biology, University of Würzburg, Josef-Schneider-Straße 2, 97080 Würzburg, Germany. (2)Institute for Molecular Infection Biology, University of Würzburg, Josef-Schneider-Straße 2, 97080 Würzburg, Germany. Electronic address: joerg.vogel@uni-wuerzburg.de. The POU ... |
54 | Is the gene MAOA epigenetically modified by methylation? | In recent years, the role of epigenetic phenomenon, such as methylation, in mediating vulnerability to behavioral illness has become increasingly appreciated. One prominent locus at which epigenetic phenomena are thought to be in play is the monoamine oxidase A (MAOA) locus.
We conclude that methylation of MAOA may pla... | [22198720, 20505345, 18454435, 22948232, 22906985, 20421737, 22436428, 16893905, 23116433, 22139575, 19777560] | 156 | This study was undertaken to analyze DNA methylation profiling at the monoamine oxidase A (MAOA) locus, in order to determine whether abnormal DNA methylation is involved in the development of schizophrenia. We recruited a total of 371 patients with paranoid schizophrenia (199 males and 172 females) and 288 unrelated c... |
55 | Which mutations of phopspholamban have been found in patients with cardiomyopathy? | PLN mutation R14del [or c.40_42delAGA(p.Arg14del)] was identified in 12 (12 %) ARVC patients and in 39 (15 %) DCM patients. Another PLN mutation is a T116G point mutation, substituting a termination codon for Leu-39 (L39stop), and it was identified in two families with hereditary heart failure. Hereditary mutants of ph... | [22155237, 12610310, 16829191, 22820313, 22707725, 17010801, 21332051, 23568436, 21282613, 12639993, 23871674, 22137083, 16432188] | 157 | Depressed Ca-handling in cardiomyocytes is frequently attributed to impaired sarcoplasmic reticulum (SR) function in human and experimental heart failure. Phospholamban (PLN) is a key regulator of SR and cardiac function, and PLN mutations in humans have been associated with dilated cardiomyopathy (DCM). We previously ... |
56 | Which are the supplemental antioxidant in athletes? | There are several antioxidant supplements belonging to different families, i.e. Vitamins, Polyphenols, alpha-lipoic acid, ubiquinones, n-3- polyunsaturated acids (PUFAs), minerals and others. Nonetheless the widespread use of these supplements, it is still debated their true usefulness, and it is not unanimously advise... | [23717765, 23349254, 16575496, 23717772, 22212240, 21400082, 19838998, 19597720, 21813916, 22828460, 24323888, 22080314, 23980734, 18562771, 19089749, 21830999, 23436649, 20308973, 21990004, 23800565, 21116022, 23600891] | 158 | This investigation examined the effect of supplementation with Biostimine, extract from Aloe arborescens Mill. leaves, on the levels of pro-oxidant-antioxidant equilibrium markers and anti- and proinflammatory cytokines in rowers subjected to exhaustive exercise. This double-blind study included 18 members of the Polis... |
57 | Is glycyl-tRNA synthetase gene involved in the development of Charcot-Marie-Tooth disease? | Dominant mutations in GARS, encoding the essential enzyme glycyl-tRNA synthetase (GlyRS), result in a form of Charcot-Marie-Tooth disease, type 2D (CMT2D), predominantly characterized by lower motor nerve degeneration. | [24368416, 23990368, 25168514, 17035524, 24669931, 24898252, 23279345, 16982418, 22144914, 12690580, 19470612, 25420567, 17545306] | 159 | Charcot-Marie-Tooth disease type 2D is a hereditary axonal and glycyl-tRNA synthetase (GARS)-associated neuropathy that is caused by a mutation in GARS. Here, we report a novel GARS-associated mouse neuropathy model using an adenoviral vector system that contains a neuronal-specific promoter. In this model, we found th... |
58 | Is there any software for automated analysis of FISH images? | FISH is a popular molecular cytogenetic method. The output of a single FISH analysis is a set of several tens or hundreds microscopic images — a single evaluated sample is of roughly 20mm diameter. The goal of an automated evaluation is to replace the subjective evaluation of images by the laboratory technician to achi... | [22935778, 16749443, 17889539, 23903043, 17674627, 20639591, 11818019, 21656271, 22665392, 15887538, 22163442, 20966547, 24240725, 21310746, 15351517] | 160 | HER2-positive breast cancer is characterized by aggressive growth and poor prognosis. Women with metastatic breast cancer with over-expression of HER2 protein or excessive presence of HER2 gene copies are potential candidates for Herceptin (Trastuzumab) targeted treatment that binds to HER2 receptors on tumor cells and... |
59 | How do histone methyltransferases cause histone modification? | Histone methyltransferases (HMTs) are responsible for the site-specific addition of covalent modifications on the histone tails, which serve as markers for the recruitment of chromatin organization complexes. There are two major types of HMTs: histone-lysine N-Methyltransferases and histone-arginine N-methyltransferase... | [22476432, 16581777, 18846226, 22357272, 17846168, 18231586, 22393255, 11850410, 16409643, 14690609, 17548343, 18058811, 17584191, 17468742, 11316813, 23195220, 20026581, 18498648, 22483804, 19571682, 23150054, 20305384, 12154089, 15775980, 12893173] | 161 | Epigenetic regulation of gene expression by covalent modification of histones is important for germ line cell development. In mammals, histone H3 lysine 9 (H3K9)-specific histone methyltransferases (HMTases), such as G9a, SETDB1, and SUV39H, play critical roles, but the contribution of H3K9-specific HMTases in Drosophi... |
60 | Is there an increased risk for cancer in Dyskeratosis Congenita? | People with DC are at increased risk for progressive bone marrow failure (BMF), myelodysplastic syndrome (MDS) or acute myelogenous leukemia (AML), solid tumors (usually squamous cell carcinoma of the head/neck or anogenital cancer), and pulmonary fibrosis | [23541441, 19558498, 20507306, 18054794, 22058220, 24034063, 20925138, 23352883, 20301779, 22932338, 22362038, 23619122, 18938267, 19327580, 17825470] | 162 | Dyskeratosis congenita (DC) encompasses a large spectrum of diseases and clinical manifestations generally related to premature aging, including bone marrow failure and cancer predisposition. The major risk factor for DC is to carry germline telomere-related mutations - in telomerase or telomere shelterin genes - which... |
61 | Does MicroRNA-21 (miR-21) contribute to cardiovascular disease? | MicroRNA-21 (miR-21) is a highly expressed microRNA (miRNA) in cardiovascular system. Recent studies have revealed that its expression is deregulated in heart and vasculature under cardiovascular disease conditions such as proliferative vascular disease, cardiac hypertrophy and heart failure, and ischemic heart disease... | [19706597, 20649511, 20959496, 21464712, 19043405, 20560046, 21712654, 22882958, 22960625, 20219857, 19336275, 22038740, 23691029, 20980922, 22859901, 20015039] | 163 | Several recent reports have suggested that microRNAs (miRNAs) might play critical roles in acute myocardial infarction (AMI). However, the miRNA expression signature in the early phase of AMI has not been identified. In this study, the miRNA expression signature was investigated in rat hearts 6 h after AMI. Compared wi... |
62 | What is the enzymatic activity of the breast cancer associated gene BRCA1? | E3-ubiquitin ligase activity is the only known enzymatic activity of BRCA1, which is mediated by the N-terminal RING finger domain.BRCA1 nuclear transport and ubiquitin E3 ligase enzymatic activity are tightly regulated by the BRCA1 dimeric binding partner BARD1 and further modulated by cancer mutations and diverse sig... | [20681793, 22034435, 19088202, 16479151, 24278741, 17420471, 16710298, 15254397] | 164 | Germline mutations of the breast cancer 1 (BRCA1) gene are a major cause of familial breast and ovarian cancer. The BRCA1 protein displays E3 ubiquitin ligase activity, and this enzymatic function is thought to be required for tumor suppression. To test this hypothesis, we generated mice that express an enzymatically d... |
63 | List markers for autophagy. | Expression of LC3-II and BECN1 as well as SQSTM1 are used as markers of autophagy activity. | [23182945, 23626658, 23598404, 22807527, 24255881, 23117929, 23437259, 24231340, 23940944, 24291536, 23727153, 23737395, 22652752, 23822101, 24141623, 23608825, 23193914, 24126619] | 165 | Preischemic hyperglycemia exacerbates brain damage caused by cerebral ischemia. In the present experiment, we studied the effects of preischemic hyperglycemia on protein markers that are related to mitochondrial fission and fusion, mitochondrial biogenesis, and autophagy in mice subjected to 30-min transient focal isch... |
64 | Are there any statistical methods for normalizing and identifying differential regions in histone modification ChIP-seq data? | Yes. ChIPnorm is a two-stage statistical method to normalize ChIP-seq data, and to find differential regions in the genome, given two libraries of histone modifications of different cell types. | [22870189] | 166 | The advent of high-throughput technologies such as ChIP-seq has made possible the study of histone modifications. A problem of particular interest is the identification of regions of the genome where different cell types from the same organism exhibit different patterns of histone enrichment. This problem turns out to ... |
65 | Is CD84 genetically associated with arthritis? | Three members of this gene family, Ly108, Ly9, and CD84, exhibit polymorphisms that strongly influence susceptibility to systemic autoimmunity, notably in mice, but also in some human populations. Our study demonstrates that an allele associated with response to etanercept therapy is also associated with CD84 gene expr... | [21094032, 23555300, 21255096] | 167 | We performed partial evaluation of pemphigus vulgaris (PV) autoantibody profile using the protein array technology. The sera from seven patients with acute PV and five healthy donors were probed for the presence of autoantibodies characteristic of the organ-non-specific autoimmune disorders rheumatoid arthritis, lupus ... |
66 | What is the function of Neu5Gc (N-Glycolylneuraminic acid)? | N-glycolylneuraminic acid (Neu5Gc) is an immunogenic sugar of dietary origin that metabolically incorporates into diverse native glycoconjugates in humans. Humans lack a functional cytidine monophosphate-N-acetylneuraminic acid hydroxylase (CMAH) protein and cannot synthesize the sugar Neu5Gc, an innate mammalian sign... | [11786991, 25003133, 23945141, 18669916, 25124893, 23520510] | 168 | Acellular materials of xenogenic origin are used worldwide as xenografts, and phase I trials of viable pig pancreatic islets are currently being performed. However, limited information is available on transmission of porcine endogenous retrovirus (PERV) after xenotransplantation and on the long-term immune response of ... |
67 | Are there any specific antidotes for rivaroxaban? | Currently, there is no specific antidote for rivaroxaban | [23460104, 19351313, 23312927, 22353706, 23628464, 22308807, 23821689, 20858186, 23810130, 23117666, 22177763, 23790307, 23634925, 23953907, 12871541, 23866358, 24103671, 23657589, 24170233] | 169 | Warfarin and heparin are the traditional mainstay anticoagulant therapies for treating thromboembolic disease. These drugs, with a documented history of utility, also have inherent difficulties in usage; in particular, the complicated monitoring and numerous drug-drug interactions of warfarin, and the need for parenter... |
68 | Which metabolite activates AtxA? | Upon infection of a mammalian host, Bacillus anthracis responds to host cues, and particularly to elevated temperature (37°C) and bicarbonate/CO2 concentrations, with increased expression of virulence factors that include the anthrax toxins and extracellular capsular layer. Cultures grown with elevated CO(2) /bicarbona... | [8577251, 9106214, 9234759, 17302798, 15149039, 21923765, 24661624, 9199422] | 170 | Bacillus anthracis plasmid pXO1 carries the structural genes for the three anthrax toxin proteins, cya (edema factor), lef (lethal factor), and pag (protective antigen). Expression of the toxin genes by B. anthracis is enhanced during growth under elevated levels of CO2. This CO2 effect is observed only in the presence... |
69 | What is the function of 6SRNA in bacteria? | 6S RNA, first described as a ncRNA in E. coli, mimics an open promoter structure, which has a large bulge with two hairpin/stalk structures that regulate transcription through interactions with RNA polymerase. Escherichia coli 6S RNA represents a non-coding RNA (ncRNA), which, based on the conserved secondary structure... | [23667906, 22214309, 17332013, 58611, 2579060, 15262935] | 171 | 6S RNA is a bacterial transcriptional regulator,which accumulates during stationary phase and inhibits transcription from many promoters due to stable association with σ 70 -containing RNA polymerase. This inhibitory RNA polymerase ∼ 6S RNA complex dissociates during nutritional upshift, when cells undergo outgrowth fr... |
70 | Is cytisine superior to nicotine replacement therapy for smoking cessation? | Yes, one clinical trial that directly compared smoking cessation rates with cytisine versus nicotine replacement therapy reported that cytisine was superior to nicotine-replacement therapy in helping smokers quit smoking, but it was associated with a higher frequency of self-reported adverse events. | [17130378, 25517706, 22513936, 21328282, 23834141, 23404838, 18076335, 21385905, 23728690, 17220536, 21154363, 23978314, 17253581, 24831822, 24574554, 17825502, 22104038, 18646137, 20040957] | 172 | OBJECTIVES: Cytisine (Tabex) has been licensed in Eastern Europe as an aid to smoking cessation for 40 years. Cytisine is a partial agonist with high affinity binding to the alpha4beta2 nicotinic acetylcholine receptor believed to be central to the rewarding effect of nicotine. There is insufficient information on effe... |
71 | Which amino acid residue appears mutated in most of the cases reported with cadasil syndrome? | CADASIL is caused mostly by missense mutations in the NOTCH3 gene, invariably involving a cysteine residue. | [19006080, 18710532, 11706120, 22367627, 15304596, 21038489, 16717210, 24086431, 21772710, 20224942, 23587639, 19043263, 17726918, 22082899, 18313300, 22623959, 23799017, 21616505, 23597439] | 173 | CADASIL is a cerebrovascular disease caused by mutations in the NOTCH3 gene. Most mutations result in a gain or loss of cysteine residue in one of the 34 epidermal growth factor-like repeats in the extracellular domain of the Notch3 protein, thus sparing the number of cysteine residues. To date, more than 130 different... |
72 | Which syndromes are associated with mutations in the EZH2 gene? | EZH2 mutations that cause Weaver syndrome are primarily missense variants and the rare truncating mutations reported to date are in the last exon, suggesting that simple haploinsufficiency is unlikely to be generating the overgrowth phenotype although the exact mechanism has not yet been determined. Recent studies have... | [22177091, 24507812, 24852293, 23099237, 22190405, 24214728, 10780782, 21856302, 25177364, 23592277, 22475286, 24760151, 24218139, 24953053] | 174 | We used trio-based whole-exome sequencing to analyze two families affected by Weaver syndrome, including one of the original families reported in 1974. Filtering of rare variants in the affected probands against the parental variants identified two different de novo mutations in the enhancer of zeste homolog 2 (EZH2). ... |
73 | Which databases exist for experimentally determined topologies of α-helical transmembrane proteins ? | ExTopoDB and TMPDB. | [12520035, 20601677] | 175 | TMPDB is a database of experimentally-characterized transmembrane (TM) topologies. TMPDB release 6.2 contains a total of 302 TM protein sequences, in which 276 are alpha-helical sequences, 17 beta-stranded, and 9 alpha-helical sequences with short pore-forming helices buried in the membrane. The TM topologies in TMPDB ... |
74 | Which disease is characterized by congenital absence of intrinsic ganglion cells of the gastrointestinal tract? | Hirschsprung disease (HSCR, aganglionic megacolon) is a common congenital malformation leading to bowel obstruction, with an incidence of 1/5,000 live births. It is characterized by the absence of intrinsic ganglion cells in the myenteric and submucosal plexuses along variable lengths of the gastrointestinal tract. | [8894691, 10980580, 21656899, 22184102, 20860806, 23272425, 8401580, 22974608, 9556633, 22131258, 16080919, 16618617, 23836442, 23043324, 8896569] | 176 | BACKGROUND: Hirschsprung disease (HSCR) is a congenital disorder characterized by an absence of intrinsic ganglion cells in the nerve plexuses of the lower colon. The Semaphorin 3A (SEMA3A) gene is involved in the migration of enteric neural precursors (ENPs). To analyze the function of SEMA3A in HSCR, the SEMA3A expre... |
75 | What is the disease in which patients are sensitive to DNA crosslinking agents, presenting with a high frequency of chromosomal aberrations? | Fanconi anemia (FA) is an autosomal disorder that causes genome instability and manifests by defects in DNA repair, hypersensitivity to DNA crosslinking agents, and a high degree of chromosomal aberrations. | [16115458, 21568838, 7116934, 7011307, 8876687, 20132664, 8058745] | 177 | Fanconi anemia (FA) is an autosomal disorder that causes genome instability. FA patients suffer developmental abnormalities, early-onset bone marrow failure, and a predisposition to cancer. The disease is manifested by defects in DNA repair, hypersensitivity to DNA crosslinking agents, and a high degree of chromosomal ... |
76 | How is oprozomib administered? | Oprozomib is administered orally. | [24239172, 22929803, 24712303, 24471924, 24103732, 22763387, 24915039] | 178 | Inhibition of proteasome, a proteolytic complex responsible for the degradation of ubiquitinated proteins, has emerged as a powerful strategy for treatment of multiple myeloma (MM), a plasma cell malignancy. First-in-class agent, bortezomib, has demonstrated great positive therapeutic efficacy in MM, both in pre-clinic... |
77 | What is a Caveolae? | Caveolae, plasma membrane invaginations of 60-80nm in diameter, are a subset of lipid rafts enriched in cholesterol and sphingolipids. | [24023653, 24013596, 24013648, 24308657, 23610576, 23521716, 7407830, 23899671, 23787000, 23727353, 23593340, 23340574] | 179 | Mutations that lead to muscular dystrophy often create deficiencies in cytoskeletal support of the muscle sarcolemma causing hyperactive mechanosensitive cation channel (MSC) activity and elevated intracellular Ca(2+). Caveolae are cholesterol-rich microdomains that form mechanically deformable invaginations of the sar... |
78 | Which are the roles of chromatin compartments in the eukaryotic nucleus? | The complexity in composition and function of the eukaryotic nucleus is achieved through its organization in specialized nuclear compartments. Chromosome conformation capture approaches have shown that interphase chromatin is partitioned into spatially segregated Mb-sized compartments and sub-Mb-sized topological domai... | [24002784, 18974210, 18434402, 21637796, 25409831, 9587055, 9636146, 15791412, 9291094, 15140983, 11909528, 22198682, 11186332] | 180 | Chromosome conformation capture approaches have shown that interphase chromatin is partitioned into spatially segregated Mb-sized compartments and sub-Mb-sized topological domains. This compartmentalization is thought to facilitate the matching of genes and regulatory elements, but its precise function and mechanistic ... |
79 | Is the abnormal dosage of ultraconserved elements disfavored in cancer cells? | No. Abnormal dosage of ultraconserved elements is highly disfavored in healthy cells but not cancer cells. | [25340765] | 181 | Ultraconserved elements (UCEs) are strongly depleted from segmental duplications and copy number variations (CNVs) in the human genome, suggesting that deletion or duplication of a UCE can be deleterious to the mammalian cell. Here we address the process by which CNVs become depleted of UCEs. We begin by showing that d... |
80 | Does thyroid hormone regulate calcium transient in the myocardium? | YES | [9875761, 19298522, 9773867, 2428004] | 182 | BACKGROUND: Conflicting results have been reported regarding the acute effects of triiodothyronine (T3) on myocardial contractile performance. The present study analyzes the role of T3 in reversing the depressant effect of excessive catecholamine stimulation in isolated porcine left ventricular myocardium. METHODS: Thi... |
81 | What are the biological roles proposed for proteins containing the SPRY domain? | defence against retroviral infection
innate and adaptative immunity
vesicular trafficking
neural differentiation
embryonic development | [16648259, 12479811, 16226405, 22872646, 23139046, 16313355, 15857996, 21035437, 23775985, 23886867, 15689398, 19184407, 23091002, 22337885, 17431422] | 183 | Primate tripartite motif 5alpha (TRIM5alpha) proteins mediate innate intracellular resistance to retroviruses. In humans, TRIM5 is located in a paralogous cluster that includes TRIM6, TRIM34, and TRIM22. Although TRIM6 and TRIM34 orthologs are found in other mammals, TRIM5 has to date been identified only in primates. ... |
82 | How could we infer functional associations from gene fusion events? | The detection of gene fusion events across genomes can be used for the prediction of functional associations of proteins, based on the observation that related proteins in one organism (including physically interacting proteins/members of complexes, proteins involved in the same pathway) tend to be found in other speci... | [22267904, 20532224, 15128449, 12429059, 12049665, 21729286, 12429063, 18081932, 12095249, 11438739, 20851221, 15980440, 16381848, 11178267, 23365410, 18629289, 22161322, 15215406, 11864366, 15701682, 17767732, 12519996, 18546511, 14673105, 18025684, 19582169, 12952538, 17597916, 11820254, 15960802, 10573422, 16221304,... | 184 | BACKGROUND: In order to understand how biological systems function it is necessary to determine the interactions and associations between proteins. Gene fusion prediction is one approach to detection of such functional relationships. Its use is however known to be problematic in higher eukaryotic genomes due to the pre... |
83 | The protein NONO forms heterodimers. With which proteins? | The protein NONO forms heterodimers with PSPC1, SFPQ. | [22101825, 19423654, 20421735, 16148043, 22102035, 18655028, 22416126] | 185 | The methodology of protein crystallography provides a number of potential bottlenecks. Here, an approach to successful structure solution of a difficult heterodimeric complex of two human proteins, paraspeckle component 1 (PSPC1) and non-POU domain-containing octamer-binding protein (NONO), that are involved in gene re... |
84 | Are proteasome inhibitors good candidates for treatment of leukemia and solid tumors? | Yes, several compounds that inhibit different members of the proteasome pathway (for example Bortezomib) are on trial for treatment of leukemia and solid tumors. It seems that a combination with other drugs may be a useful therapy for solid tumors. | [20160034, 22057347, 19712963, 15169797, 23181572, 12171876, 22134540, 19821999, 23477519, 22353937, 16135477, 22012631, 17145882, 17431003, 22995770, 20219102] | 187 | Ubiquitin-tagged substrates are degraded by the 26S proteasome, which is a multisubunit complex comprising a proteolytic 20S core particle capped by 19S regulatory particles. The approval of bortezomib for the treatment of multiple myeloma validated the 20S core particle as an anticancer drug target. Here we describe t... |
85 | Is there any link between CTF4 and CTF18 during sister chromatid cohesion? | Yes. CTF4 and CTF18 are required for high-fidelity chromosome segregation. Both exhibit genetic and physical ties to replication fork constituents. Absence of either CTF4 or CTF18 causes sister chromatid cohesion failure and leads to a preanaphase accumulation of cells that depends on the spindle assembly checkpoint. T... | [19430531, 11287619, 23036200, 15226378, 23334284, 16962805, 17483413, 14742714] | 188 | Mutations in the ELG1 gene of yeast lead to genomic instability, manifested in high levels of genetic recombination, chromosome loss, and gross chromosomal rearrangements. Elg1 shows similarity to the large subunit of the Replication Factor C clamp loader, and forms a RFC-like (RLC) complex in conjunction with the 4 sm... |
86 | What is the target of the drug Olaparib? | The drug Olaparib target the protein poly(ADP-ribose) polymerase. | [25275045, 25218906, 25128455, 25526472, 25374341, 25417706, 25144364, 25221646, 25302833, 25120693, 25366685, 25531448, 25139258, 25127709, 25483710, 25481791] | 190 | BACKGROUND: Olaparib is a poly(ADP-ribose) polymerase inhibitor and cediranib is an anti-angiogenic agent with activity against VEGF receptor (VEGFR) 1, VEGFR2, and VEGFR3. Both oral agents have antitumour activity in women with recurrent ovarian cancer, and their combination was active and had manageable toxicities in... |
87 | Are thyroid hormone receptor alpha1 mutations implicated in thyroid hormone resistance syndrome? | The lack of TR alpha1 exacerbates the manifestation of RTH in TR betaPV mice. Therefore, TR alpha1 could play a compensatory role in mediating the functions of T3 in heterozygous patients with RTH | [7913092, 8115332, 8068885, 8384535, 7711514, 8954015, 8475937, 15988389, 9350446, 8594618, 23633213, 15860414, 9092799, 17906375, 9685218, 17040361, 15913586, 12356724, 12750454] | 191 | Three novel point mutations at nucleotides 1249, 1282, and 1614 (exons 9 and 10) of the human thyroid hormone receptor-beta gene were observed in six individuals affected by the syndrome of resistance to thyroid hormone. All three mutations occurred in a heterozygous pattern and caused the following changes in the matu... |
88 | What is the role of RhoA in bladder cancer? | In urinary bladder cancer, RhoA was more commonly found to be activated in the later stages of the disease. This activation was related to poor tumor differentiation, muscle invasion, lymph node metastasis, and shortened disease-free and overall survival. | [22006759, 21054792, 18190825, 12855641, 19896475] | 192 | INTRODUCTION: Rho-kinase (ROCK) is a serine/threonine kinase and is one of the major downstream effectors of the small guanosine triphosphatase Rho. In the past few years, evidence has been accumulating to suggest that the RhoA/ROCK system may play an important role in the pathogenesis of a number of cardiovascular and... |
89 | List human proteins that are subject to a dimer-to-tetramer transition. | GAC
SHMT2
AMPAR
Orai1
Orai3 | [25548170, 23739980, 25619277, 21080238, 21987805] | 193 | Most fast excitatory synaptic transmission in the nervous system is mediated by glutamate acting through ionotropic glutamate receptors (iGluRs). iGluRs (AMPA, kainate, and NMDA receptor subtypes) are tetrameric assemblies, formed as a dimer of dimers. Still, the mechanism underlying tetramerization--the necessary step... |
90 | Inhibition of which transporter is the mechanism of action of drug Canagliflozin? | Inhibition of sodium glucose co-transporter 2 (SGLT2) is the major mechanism of action of canagliflozin. Canagliflozin is the first SGLT2 inhibitor to be approved in the USA for the treatment of type 2 diabetes and is under regulatory review in the EU. Other SGLT2 inhibitors include dapagliflozin and empagliflozin. | [23087012, 24040872, 22547464, 23729000, 10481836, 23590413, 23042029, 23563279, 23412078, 23326927, 22621689, 21680987, 24257692, 24025022, 23895803] | 194 | BACKGROUND: Despite the number of medications for type 2 diabetes, many people with the condition do not achieve good glycaemic control. Some existing glucose-lowering agents have adverse effects such as weight gain or hypoglycaemia. Type 2 diabetes tends to be a progressive disease, and most patients require treatment... |
91 | What is the prognostic role of thyroid hormone in patients with heart failure? | Altered thyroid profile, particularly sick euthyroid syndrome, is an independent predictor of mortality in patients with chronic heart failure, adding prognostic information to conventional clinical and functional cardiac parameters. | [19006851, 20978564, 12963854, 17893267, 9489964, 8960429, 15642542, 23369135, 15694896, 19110971, 20024637, 17315395, 18221125, 22870736, 2358611, 19917524, 23435988, 16499159, 8333797, 12165115, 19181292, 17966446, 15259379, 2189307, 23555069, 17923583] | 195 | BACKGROUND: It has been suggested that low thyroid hormones levels may be associated with increased mortality in patients with cardiovascular disease. AIM: To evaluate the prognostic role of thyroid function deficiency in patients with chronic heart failure (CHF). METHODS: We evaluated 338 consecutive outpatients with ... |
92 | which mutations of phospholamban gene have been found to cause hypertrophic cardiomyopathy? | The following mutations of the phospholamban gene have been found to be associated with hypertrophic cardiomyopathy: PLN L39X nonsense mutation; PLN Leu39Ter; PLN -42 C>G and PLN -77A-->G | [17655857, 12705874, 21167350, 16829191] | 196 | BACKGROUND: hypertrophic cardiomyopathy (HCM) is a major cause of sudden death in young athletes and one of the most common inherited cardiovascular diseases, affecting 1 in 500 individuals. Often viewed as a disease of the cardiac sarcomere, mutations in genes encoding myofilament proteins are associated with disease ... |
93 | Which gene strand is targeted by transcription-coupled repair (TCR)? | Nucleotide Excision Repair (NER) removes a variety of helix-distorting lesions from DNA. It has two sub-pathways, the global genome (gg) NER and the transcription-coupled repair (TCR). TCR is triggered when a RNA polymerase, translocating along the transcribed strand, is arrested at a lesion or unusual structure in the... | [11452033, 12142466, 15380101, 20463888, 10637337, 17893751, 17015469, 16394029, 8972850, 19381941, 9150262, 15249207, 14599741, 9065408, 15913669, 21466822, 20978633, 11182543, 9288788, 22749141, 18291710, 14599769, 21214942, 22902626, 14734564, 18817898, 16978026, 12509290, 7957102, 11821423, 15186415, 16158195, 8807... | 197 | It has been previously shown that disruption of RAD26 in yeast strain W303-1B results in a strain that is deficient in transcription-coupled repair (TCR), the preferential repair of the transcribed strand of an expressed gene over the non-transcribed strand and the rest of the genome. RAD26 encodes a protein that is ho... |
94 | Abnormalities in which chromosomes were linked to the Moyamoya disease? | chromosomes 3, 6, 8, 12, 15, 17, 21, X and Y were implicated in the Moyamoya disease. | [11037190, 21968521, 20635402, 8898827, 18463369, 15362573, 22436252, 22426657, 23966756, 9973290, 16723886, 9128751, 20644152, 23077562, 21596366, 21048783, 23713105, 10754001, 15340753, 18576213, 19335127, 17431895, 19918425, 24167642, 15675355, 15675354, 18174554, 16164190, 10757474, 16475235, 17138018, 8937199, 216... | 198 | Moyamoya disease is a specific chronic cerebrovascular occlusive disease first reported by Japanese surgeons in 1957. The disease is characterized by stenosis or occlusion of the terminal portions of the bilateral internal carotid arteries and abnormal vascular network in the vicinity of the arterial occlusion. It may ... |
95 | Which is the branch site consensus sequence in U12-dependent introns? | The branch site consensus sequence in U12-dependent introns is UUCCUUAAC. | [18824513] | 199 | Highly conserved sequences at the 5' splice site and branch site of U12-dependent introns are important determinants for splicing by U12-dependent spliceosomes. This study investigates the in vivo splicing phenotypes of mutations in the branch site consensus sequence of the U12-dependent intron F from a human NOL1 (P12... |
96 | For what is Protein A from Staphylococcus aureus used in biochemistry? | Protein A from the bacterium Staphylococcus aureus (SpA) is used as an affinity ligand for purification of immunoglobulin G (IgG). | [23776704, 24033345, 22621885, 24184233, 12472184, 24291195, 23770556, 22136061] | 200 | Staphylococcus aureus protein A (SpA) is the most popular affinity ligand for immunoglobulin G1 (IgG1). However, the molecular basis for the dissociation dynamics of SpA-IgG1 complex is unclear. Herein, coarse-grained (CG) molecular dynamics (MD) simulations with the Martini force field were used to study the dissociat... |
97 | What is the suggested therapy for Mycobacterium avium infection? | The activity of TLC G-65 (a liposomal gentamicin preparation), alone and in combination with rifapentine, clarithromycin, clofazimine and ethambutol, was evaluated in the beige mouse (C57BL/6J--bgj/bgj) model of disseminated Mycobacterium avium infection. TLC G-65 in combination with rifapentine appears to be an attrac... | [8733409, 16584300, 10714126, 1832527, 19929882, 1387133, 9875582, 11073759] | 201 | The turning point in antimicrobial therapy of Mycobacterium avium infections came with the development of two new macrolides, clarithromycin and azithromycin. Controlled clinical trials, the first ever conducted with any agent among patients with M. avium infection, indicated the high efficiency of clarithromycin, in e... |
98 | What is the treatment of acute pericarditis? | A multidisciplinary approach is frequently necessary to treat acute pericarditis; the most frequent treatments are: antiinflammatory steroid and non-steroid drugs, antibiotic therapy, pericardial drainage and, less frequently ,intrapericardial irrigation of fibrinolytics; antituberculous chemotherapy in presence of Tu... | [7375968, 17415329, 308705, 20074469, 6727432, 10560235, 12405580, 12379412, 6966005, 6726718, 10920507, 18924029, 17180574] | 202 | Acute febrile juvenile rheumatoid arthritis (JRA) of adult onset is often diagnosed by ruling out other problems. The classification of JRA is primarily based on the distinct type of onset, of which there are usually three: (1) acute febrile or Still's type, (2) polyarticular, and (3) monoarticular pauciarticular arthr... |
99 | What is the genetic basis of tuberous sclerosis? | The genetic basis of tuberous sclerosis has been attributed to mutations in one of two unlinked genes, TSC1 and TSC2. The functions of the TSC1 and TSC2 gene products, hamartin and tuberin, respectively, have remained ill defined until recently. Genetic, biochemical, and biologic analyses have highlighted their role as... | [20073603, 15563017, 7546221, 24105488, 10823953, 9743993, 15579029, 15565817, 11520734] | 203 | CONTEXT: Lymphangioleiomyomatosis (LAM) is a cystic lung disease that can be included in the wide group of proliferative lesions named PEComas (perivascular epithelioid cell tumors). These proliferative tumors are characterized by the coexpression of myogenic and melanogenesis-related markers. In all these lesions, gen... |
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