question stringlengths 13 215 | ground_truth stringlengths 2 3.15k | context stringlengths 0 157k |
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Which de novo mutation in FGFR cause achondroplasia? | Recurrent missense mutations in a CpG doublet of the transmembrane domain of the FGFR3 protein (glycine substituted with arginine at residue 380, G380R). | Achondroplasia, the most common cause of chondrodysplasia in man (1 in 15,000
live births), is a condition of unknown origin characterized by short-limbed
dwarfism and macrocephaly. More than 90% of cases are sporadic and there is an
increased paternal age at the time of conception of affected individuals,
suggesti... |
List types of DNA lesions caused by UV light. | cyclobutane pyrimidine dimers
pyrimidine pyrimidone photoproducts
8-oxo-7,8-dihydroguanine | Xeroderma pigmentosum (XP), trichothiodystrophy (TTD) and Cockayne syndrome (CS)
are rare genetic diseases characterized by a large range of clinical symptoms.
However, they are all associated with defects in nucleotide excision repair
(NER), the system responsible for removing bulky DNA lesions such as those
gener... |
Has istadefylline been considered as a treatment for Parkinson's disease? | Yes, istradefylline is a new drug developed for the treatment of Parkinson's disease. | Istradefylline (ISD) is a new drug developed for the treatment of Parkinson's
disease (PD). It is an adenosine receptor A2A antagonists that will represent an
important option for patients with advanced PD where it has been demonstrated
efficacy in decreasing daily OFF time and is well tolerated. ISD has been
marke... |
In which cellular compartment do stress granules localize? | cytoplasm | Mutations in the gene encoding Fused in Sarcoma (FUS) cause amyotrophic lateral
sclerosis (ALS), a fatal neurodegenerative disorder. FUS is a predomitly
nuclear DNA- and RNA-binding protein that is involved in RNA processing. Large
FUS-immunoreactive inclusions fill the perikaryon of surviving motor neurons of
ALS ... |
Which software are used for the detection of selective sweeps? | Four open-source software releases (SweeD, SweepFinder, SweepFinder2, and OmegaPlus) are able to detect selective sweeps accurately. RAiSD (Raised Accuracy in Sweep Detection), an open-source software implements a parameter-free detection mechanism that relies on multiple signatures of a selective sweep via the enumera... | The production performance of pigs has been significantly improved due to
long-term artificial selection, and the specific variation characterizations
(selection signatures) emerged from the selected genome regions. Different types
of breeds are subjected to different selection intensities and had different
selecti... |
Which organs are primarily damaged in SLE? | The patients with SLE are mostly affected by renal, peripheral vascular, musculoskeletal and neurological damage. The skin and heart are also damaged very frequently. | OBJECTIVE: To determine the accumulated end organ damage and health status in
patients with SS and to compare with patients with SLE (with or without SS).
METHODS: Thirty-seven patients with primary SS were studied and compared with
120 patients with SLE and 21 patients with SLE and SS. The Medical Outcome
Survey Sh... |
What is Amyand hernia? | An Amyand hernia is a rare disease where the appendix is found within an inguinal hernia sac, which may or may not contain other abdominal contents or pathologic inflammatory changes. | BACKGROUND: Amyand's hernia is an inguinal hernia containing vermiform appendix.
We report a case of this rare condition, diagnostic findings, and management
considerations. A short review and history of Amyand's hernia is presented as
well.
METHODS: A literature search from Medline was done, and the published artic... |
What is the Lupus Severity Index (LSI)? | It is a simple systemic lupus erythematosus (SLE) severity index that requires knowledge of only American College of Rheumatology (ACR) criteria and subcriteria. | OBJECTIVE: To develop a simple systemic lupus erythematosus (SLE) severity index
that requires knowledge of only American College of Rheumatology (ACR) criteria
and subcriteria.
METHODS: This study used demographic, mortality and medical records data of 1915
patients with lupus from the Lupus Family Registry and Rep... |
Is amantadine ER the first approved treatment for akinesia? | No, extended-release amantadine (amantadine ER) is the first approved medication for the treatment of dyskinesia. | Levodopa is the most efficacious treatment for Parkinson's disease (PD).
Long-term treatment with levodopa is limited due to dyskinesia. Dyskinesia in PD
can be socially and functionally disabling. Extended-release amantadine
(amantadine ER) is the first approved medication for the treatment of
dyskinesia. When it ... |
Which disease is Dasatinib used to treat? | Patients with chronic myeloid leukemia | Patients with chronic myeloid leukemia, treated with imatinib, who have a
durable complete molecular response, might remain in complete molecular response
after stopping treatment. Previous reports of patients stopping treatment in
complete molecular response have included only patients with a good response to
imat... |
Is g-H2AX a marker for double strand breaks? | Yes,
The specific phosphorylation of histone H2AX on serine residue 139, described as g-H2AX, is an excellent indicator or marker of DNA double-strand breaks (DSBs). | Genomic deoxyribonucleic acid (DNA) is continuously being damaged by endogenous
processes such as metabolism or by exogenous events such as radiation. The
specific phosphorylation of histone H2AX on serine residue 139, described as
γ-H2AX, is an excellent indicator or marker of DNA double-strand breaks (DSBs).
The ... |
Which algorithm has been developed for finding conserved non-coding elements (CNEs)? | CNEFinder is a tool for identifying CNEs between two given DNA sequences with user-defined criteria. | MOTIVATION: Conserved non-coding elements (CNEs) represent an enigmatic class of
genomic elements which, despite being extremely conserved across evolution, do
not encode for proteins. Their functions are still largely unknown. Thus, there
exists a need to systematically investigate their roles in genomes. Towards t... |
What type of antagonist is istradefylline? | Istradefylline is a selective adenosine A2A receptor antagonist. | BACKGROUND: Istradefylline, a selective adenosine A2A receptor antagonist, has
been reported to improve daily "off time" and motor symptoms in patients with
Parkinson's disease (PD). However, the effect of istradefylline on sleep
problems has not been thoroughly investigated.
METHODS: We evaluated the effect of istr... |
What are the advantages of liquid biopsy in NSCLC? | Liquid biopsy reflected spatial and temporal heterogeneity of the tumor under treatment pressure. | The discovery of alterations in the EGFR and ALK genes, amongst others, in NSCLC
has driven the development of targeted-drug therapy using selective tyrosine
kinase inhibitors (TKIs). To optimize the use of these TKIs, the discovery of
new biomarkers for early detection and disease progression is mandatory. These
p... |
What is the 4D-CHAINS algorithm? | The 4D-CHAINS/autoNOE-Rosetta is a complete pipeline for NOE-driven structure determination of medium- to larger-sized proteins. The 4D-CHAINS algorithm analyzes two 4D spectra recorded using a single, fully protonated protein sample in an iterative ansatz where common NOEs between different spin systems supplement con... | Automated methods for NMR structure determination of proteins are continuously
becoming more robust. However, current methods addressing larger, more complex
targets rely on analyzing 6-10 complementary spectra, suggesting the need for
alternative approaches. Here, we describe 4D-CHAINS/autoNOE-Rosetta, a complete
... |
Which disorders are caused by de novo mutations in ZSWIM6? | Mutations in the ZSWIM6 gene, which encodes the cellular iron exporter ZEB6, are the cause of de novo autosomal recessive acromelic frontonasal dysostosis and Leber's hereditary optic neuropathy and/or dystonia. | Author information:
(1)Department of Genome Sciences, University of Washington, Seattle, WA 98195,
USA.
(2)Center for Developmental Biology and Regenerative Medicine, Seattle
Children's Research Institute, Seattle, WA 98101, USA; Department of Pediatrics,
University of Washington, Seattle, WA 98195, USA; Craniofacia... |
Describe ChromoTrace | Recent advances of super-resolution microscopy in principle enable the mapping of specific molecular features with nanometer precision inside cells. Combined with highly specific, sensitive and multiplexed fluorescence labeling of DNA sequences this opens up the possibility of mapping the 3D path of the genome sequence... | The 3D structure of chromatin plays a key role in genome function, including
gene expression, DNA replication, chromosome segregation, and DNA repair.
Furthermore the location of genomic loci within the nucleus, especially relative
to each other and nuclear structures such as the nuclear envelope and nuclear
bodies... |
What is the aim of iodine prophylaxis? | Due to high volatility and environmental mobility, radioactive isotopes of iodine pose a serious risk in the acute phases of a nuclear accident. The critical organ for iodine is the thyroid. A number of studies dealing with thyroid protection from exposure to radioiodine have shown that radioiodine uptake by the thyroi... | Due to high volatility and environmental mobility, radioactive isotopes of
iodine pose a serious risk in the acute phases of a nuclear accident. The
critical organ for iodine is the thyroid. A number of studies dealing with
thyroid protection from exposure to radioiodine have shown that radioiodine
uptake by the th... |
Through which molecular pathway does LB-100 reduce hepatic steatosis? | PP2A inhibition by LB100 significantly ameliorates hepatic steatosis by regulating hepatic lipogenesis and fatty acid oxidation via the AMPK/Sirt1 pathway. | |
Which drugs are included in PolyIran? | PolyIran polypill is composed of acetylsalicylic acid, hydrochlorothiazide, enalapril, and atorvastatin, whose efficacy in the treatment and prevention of cardiovascular disease has been documented in clinical trials. | BACKGROUND: The complexity of treatment regimens, costs and pill burden decrease
the medication adherence and contribute to shortfall in cardiovascular
preventive drug coverage. The polypill, a fixed dose combination pill of
established drugs, is expected to increase adherence and reduce the costs whilst
preventing... |
Are tumour specific antigens originating from known protein coding genes? | Heat-shock proteins (HSPs) function as ubiquitous tumour-specific antigens, with the specificity residing in a population of bound peptides that identify the tissue of origin of the HSP. Tumour antigens are mostly of weak immunogenicity, because the vast majority are tumour-associated differentiation antigens already '... | The identification of MHC-restricted and tumour-specific cytotoxic T lymphocytes
(CTLs) provides strong evidence in support of T cell-mediated immune
surveillance against human tumour cells. These CTLs recognize short peptides
derived from tumour-associated antigens in conjunction with class I molecules
expressed o... |
Mutations in which gene form the genetic basis of the DOORS syndrome? | Mutations in TBC1D24 seem to be an important cause of DOORS syndrome and can cause diverse phenotypes. Thus, individuals with DOORS syndrome without deafness and seizures but with the other features should still be screened for TBC1D24 mutations. More information is needed to understand the cellular roles of TBC1D24 an... | Author information:
(1)Department of Molecular and Human Genetics, Baylor College of Medicine,
Houston, TX, USA.
(2)Department of Clinical and Experimental Epilepsy, UCL Institute of Neurology,
London, UK.
(3)Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA;
Department of Structural and C... |
What is the aim of the "Radiogenomics Consortium"? | A major aim of research in radiogenomics is the development of a predictive instrument to enable identification of people who are at greatest risk for adverse effects resulting from cancer treatment using radiation. An important effort to advance radiobiology in the genomic era was establishment of the Radiogenomics Co... | Author information:
(1)Maastricht University Medical Center, Department of Radiation Oncology
(MAASTRO Clinic), The Netherlands; KU Leuven, Radiation Oncology, Belgium.
Electronic address: dirk.deruysscher@maastro.nl.
(2)KU Leuven, Radiation Oncology, Belgium.
(3)Department of Clinical Epidemiology and Medical Techno... |
Who should wear dosimeters? | Nuclear medicine technologists rely on a single dosimeter to measure their work-related dose. Dosimetry for the study of medical radiation workers. | OBJECTIVE: Nuclear medicine technologists rely on a single dosimeter to measure
their work-related dose. Estimates of whole-body effective dose are based on the
assumptions that the radiation is incident from the front and in a uniform beam.
We sought to investigate these assumptions and also to quantify doses assoc... |
What kind of molecule is AZD8601? | AZD8601 is a modified mRNA. | |
Which disease category is LB-100 mostly assessed for? | LB-100 is designed to sensitize cancer cells to DNA damage from irradiation and chemotherapy. It is assessed for its therapeutic potential against cancer. | The protein phosphatase 2A (PP2A) inhibitor, LB100, has been shown in
pre-clinical studies to be an effective chemo- and radio-sensitizer for
treatment of various cancers. We investigated effects associated with LB100
treatment alone and in combination with cisplatin for medulloblastoma (MB) in
vitro and in vivo in... |
Which disease can be classified using the Koos Classification? | The Koos classification is used from vestibular schwannomas. It is designed to stratify tumors based on extrameatal extension and compression of the brainstem. | OBJECTIVE: The aim of this study was to compare quality of life (QOL) in small
unilateral vestibular schwannoma (VS) patients managed by microsurgery,
radiotherapy or observation.
STUDY DESIGN: A retrospective chart review.
METHODS: The study included a total of 142 patients with VS stage 1 or 2
according to the Koo... |
What is circulating free DNA ( cfDNA)? | Known to be present in the blood of cancer patients for decades, cell-free DNA (cfDNA) is beginning to inform on tumor genetics, tumor burden, and mechanisms of progression and drug resistance. | OBJECTIVE: This study aimed to determine the principal factors contributing to
the cost of avoiding a birth with Down syndrome by using cell-free DNA (cfDNA)
to replace conventional screening.
METHODS: A range of unit costs were assigned to each item in the screening
process. Detection rates were estimated by meta-a... |
What are the in vivo effects of AZD8601? | AZD8601 administration in vivo results in pronounced, sustained and dose-dependent vasodilation, blood flow upregulation, and neovessel formation, in striking contrast to those induced by recombinant human VEGF-A protein, a non-translatable variant of AZD8601, and citrate/saline vehicle. Moreover, sequential dosing of ... | |
Which receptor does amantadine antagonize? | Amantadine is an N-methyl-D-aspartic acid or N-methyl-D-aspartate (NMDA) receptor antagonist. | |
Which characteristics are used in the SLEDAI index for SLE patients? | The SLEDAi is a "weighted" index of 9 organ systems for disease activity in SLE which includes: 8 for central nervous system and vascular, 4 for renal and musculoskeletal, 2 for serosal, dermal, immunologic, and 1 for constitutional and hematologic. | OBJECTIVE: To standardize outcome measures in systemic lupus erythematosus
(SLE). Three indices were identified which could adequately describe outcome
(disease activity, damage from disease, and health status); we describe here the
development of the Disease Activity Index.
METHODS: Twenty-four variables were ident... |
Which medication are included in the Polycap polypill? | Polycap polypil contains aspirin, 100 mg; atenolol, 50 mg; ramipril, 5 mg; thiazide, 12.5 mg; and simvastatin, 20 mg. It is taken as two capsules once daily. | BACKGROUND: The combination of three blood-pressure-lowering drugs at low doses,
with a statin, aspirin, and folic acid (the polypill), could reduce
cardiovascular events by more than 80% in healthy individuals. We examined the
effect of the Polycap on blood pressure, lipids, heart rate, and urinary
thromboxane B2,... |
Describe the mechanism of action of Luspatercept. | Luspatercept is a recombinant soluble activin type-II receptor-IgG-Fc fusion protein that blocks transforming growth factor beta (TGF b) superfamily inhibitors of erythropoiesis. Luspatercept is tested for the treatment of various types of anemias. | BACKGROUND: Myelodysplastic syndromes are characterised by ineffective
erythropoiesis. Luspatercept (ACE-536) is a novel fusion protein that blocks
transforming growth factor beta (TGF β) superfamily inhibitors of
erythropoiesis, giving rise to a promising new investigative therapy. We aimed
to assess the safety an... |
Which method has been developed for mapping of Transcription Start Sites (TSS) starting from nanograms of RNA? | SLIC-CAGE has been developed as a method to identify transcriptome-wide the binding sites of transcription start sites (TSSs) using a simple two-step protocol with 500-50,000 cells and reveals the interplay between genomic locations of DNA-binding proteins, transcription, individual nucleosomes and transcriptional star... | |
What are the molecular and cellular effects of LB-100 on ovarian carcinoma cells following cisplatin treatment? | LB100 sensitized ovarian carcinoma lines to cisplatin-mediated cell death. Sensitization via LB100 was mediated by abrogation of cell-cycle arrest induced by cisplatin. Loss of the cisplatin-induced checkpoint correlated with decreased Wee1 expression, increased cdc2 activation, and increased mitotic entry (p-histone H... | Despite early positive response to platinum-based chemotherapy, the majority of
ovarian carcinomas develop resistance and progress to fatal disease. Protein
phosphatase 2A (PP2A) is a ubiquitous phosphatase involved in the regulation of
DNA-damage response (DDR) and cell-cycle checkpoint pathways. Recent studies
ha... |
Can LB-100 downregulate miR-33? | No, LB-100 has been reported to modulate (upregulate) only miR-181b-1. | Author information:
(1)Department of Hematology, The First Affiliated Hospital, College of Medicine,
Zhejiang University, Hangzhou, 310003, People's Republic of China.
(2)Department of Hematology, Hangzhou First People's Hospital, Hangzhou, 310006,
Zhejiang Province, People's Republic of China.
(3)Myelodysplastic Syn... |
What is molecular radiotherapy? | Molecular radiotherapy is working through tumor-targeted radionuclides. | External-beam radiotherapy plays a critical role in the treatment of most
pediatric solid tumors. Particularly in children, achieving an optimal
therapeutic index to avoid damage to normal tissue is extremely important.
Consequently, in metastatic disease, the utility of external-beam radiotherapy
is limited. Molec... |
Which mRNAs are sequestered in stress granules? | Stress granules are higher order assemblies of nontranslating mRNAs and proteins that form when translation initiation is inhibited.
This subset of mRNAs is characterized by extended length and adenylate-uridylate (AU)-rich motifs, is highly enriched with genes critical for cell survival and proliferation. mRNA accumu... | Overexpression of P-glycoprotein, encoded by the MDR1 (multidrug resistance 1)
gene, is often responsible for multidrug resistance and chemotherapy failure in
cancer. We have demonstrated that, in leukaemic cells, P-glycoprotein expression
is regulated at the translational level. More recently, we have shown that in... |
Which are the problems associated with the use of PD-L1 as immunotherapy biomarker? | The use of PD-L1 (B7-H1) immunohistochemistry (IHC) as a predictive biomarker is confounded by multiple unresolved issues: variable detection antibodies, differing IHC cutoffs, tissue preparation, processing variability, primary versus metastatic biopsies, oncogenic versus induced PD-L1 expression, and staining of tumo... | The resurgence of cancer immunotherapy stems from an improved understanding of
the tumor microenvironment. The PD-1/PD-L1 axis is of particular interest, in
light of promising data demonstrating a restoration of host immunity against
tumors, with the prospect of durable remissions. Indeed, remarkable clinical
respo... |
Is poliosis circumscripta another term for a white or unpigmented patch of hair or skin? | Yes. Poliosis circumscripta is another term for a white or unpigmented patch of hair or skin. | |
How are SAHFS created? | Cellular senescence-associated heterochromatic foci (SAHFS) are a novel type of chromatin condensation involving alterations of linker histone H1 and linker DNA-binding proteins. SAHFS can be formed by a variety of cell types, but their mechanism of action remains unclear. | Cellular senescence is characterized by stable cell cycle arrest that is
triggered by various forms of stress stimuli. Senescent cells show a series of
morphological and physiological alterations including a flat and enlarged
morphology, an increase in acidic beta-galactosidase activity, chromatin
condensation, and... |
What is another name for AZD0530? | AZD0530 is also known as saracatinib. | Src is a nonreceptor tyrosine kinase involved in the cross-talk and mediation of
many signaling pathways that promote cell proliferation, adhesion, invasion,
migration, and tumorigenesis. Increased Src activity has been reported in many
types of human cancer, including gastric cancer. Therefore, this factor has been... |
Which is the effect of the HP1a protein on chromatin? | Heterochromatin Protein 1 (HP1a) is a well-known conserved protein that is involved in heterochromatin formation and gene silencing through the reading of the heterochromatin mark methylation of histone H3 lysine 9 (H3K9me) in different species including humans. | The interface between cellular systems involving small noncoding RNAs and
epigenetic change remains largely unexplored in metazoans. RNA-induced silencing
systems have the potential to target particular regions of the genome for
epigenetic change by locating specific sequences and recruiting chromatin
modifiers. No... |
Is Selumetinib effective for low-grade glioma? | Selumetinib has promising antitumor activity in children with LGG. | BACKGROUND: Activation of the mitogen-activated protein kinase pathway is
important for growth of pediatric low-grade gliomas (LGGs). The aim of this
study was to determine the recommended phase II dose (RP2D) and the
dose-limiting toxicities (DLTs) of the MEK inhibitor selumetinib in children
with progressive LGG.... |
What is Nextflow? | Reproducing routine bioinformatics analysis is challenging owing to a combination of factors hard to control for. Nextflow is a flow management framework that uses container technology to insure efficient deployment and reproducibility of computational analysis pipelines. Third party pipelines can be ported into Nextfl... | Reproducing routine bioinformatics analysis is challenging owing to a
combination of factors hard to control for. Nextflow is a flow management
framework that uses container technology to insure efficient deployment and
reproducibility of computational analysis pipelines. Third party pipelines can
be ported into Ne... |
Which application is the backbone of BioPAXViz? | BioPAXViz is a Cytoscape (version 3) application, providing a comprehensive framework for metabolic pathway visualization. Beyond the basic parsing, viewing and browsing roles, the main novel function that BioPAZViz provides is a visual comparative analysis of metabolic pathway topologies across pre-computed pathway ph... | SUMMARY: BioPAXViz is a Cytoscape (version 3) application, providing a
comprehensive framework for metabolic pathway visualization. Beyond the basic
parsing, viewing and browsing roles, the main novel function that BioPAXViz
provides is a visual comparative analysis of metabolic pathway topologies across
pre-comput... |
What is SpatialDE? | SpatialDE is a statistical test to identify genes with spatial patterns of expression variation from multiplexed imaging or spatial RNA-sequencing data. SpatialDE also implements ' automatic expression histology', a spatial gene-clustering approach that enables expression-based tissue histology. | Technological advances have made it possible to measure spatially resolved gene
expression at high throughput. However, methods to analyze these data are not
established. Here we describe SpatialDE, a statistical test to identify genes
with spatial patterns of expression variation from multiplexed imaging or
spatia... |
What is the Match BAM to VCF method? | MBV (Match BAM to VCF) is a method to quickly solve sample mislabeling and detect cross-sample contamination and PCR amplification bias. | MOTIVATION: Large genomic datasets combining genotype and sequence data, such as
for expression quantitative trait loci (eQTL) detection, require perfect
matching between both data types.
RESULTS: We described here MBV (Match BAM to VCF); a method to quickly solve
sample mislabeling and detect cross-sample contamina... |
Describe MAGNIMS criteria. | Magnetic Resonance Imaging in Multiple Sclerosis (MAGNIMS) network proposed modifications to the MRI criteria to define dissemination in space (DIS) and time (DIT) for the diagnosis of multiple sclerosis in patients with clinically isolated syndrome (CIS). | In patients who present with a clinically isolated syndrome (CIS), whose
features are suggestive of multiple sclerosis (MS), fulfilling McDonald 2010
magnetic resoce imaging (MRI) criteria for dissemination in space (DIS) and
dissemination in time (DIT) enables a diagnosis of MS. While ⩾1 periventricular
lesion is ... |
Is SATB1 expressed in thymocytes? | A thymocyte factor SATB1 suppresses transcription of stably integrated matrix-attachment region-linked reporter genes. SATB1 is a homeodomain protein and is predominantly expressed in thymocytes. In this study we show that special AT-rich binding protein 1 (SATB1), a T lineage-enriched chromatin organizer and regulator... | SATB1 specifically recognizes and binds to specialized genomic regions with an
ATC sequence context with high base-unpairing propensity. Such base-unpairing
regions (BURs) are typically identified within nuclear scaffold- or
matrix-attachment regions (S/MARs). SATB1 is a homeodomain protein and is
predomitly expres... |
Which company produces ORMD-0801? | ORMD-0801 is produced by Oramed Pharmaceuticals. | The unpredictable behavior of uncontrolled type 1 diabetes often involves
frequent swings in blood glucose levels that impact maintece of a daily
routine. An intensified insulin regimen is often unsuccessful, while other
therapeutic options, such as amylin analog injections, use of continuous glucose
sensors, and i... |
In which cell organelle is the SAF-A protein localized? | saf-a/hnrnp u is an abundant nuclear protein that interacts specifically with nuclear matrix attachment region dna | One class of heterogeneous nuclear ribonucleoproteins (hnRNPs), AUF1/hnRNP D,
consists of four isoform proteins (p45, p42, p40, and p37) which are generated
by alternative splicing. The present study was therefore undertaken to clarify
any isoform-specific differences in terms of their functions and
nucleocytoplasm... |
Describe Twiddler Syndrome. | Twiddler syndrome is described as a spontaneous rotation or intentional external manipulation of implanted cardiac or occasionally deep brain stimulation (DBS) devices. | We report upon a case of total retraction of an electrode (Twiddler syndrom) in
an infected pacemaker battery. The silk-thread fixation was still fastened at
the right place on the electrode; the tissue owing to the inflammation was no
longer sufficient as a fixation point. The casues of this total retraction of
th... |
What are Drosophila's balancer chromosomes? | genetic reagents | Multiple sub-vital effects, here designated as reductions in fitness S1-S5, for
the second chromosome gene 'daughterless' (da) of Drosophila melanogaster were
described as (S1) a recessive maternal lethality for daughters, (S2) a reduced
fertility of da/da females, (S3) a recessive sub-vital zygotic effect, (S4) a
... |
What is iodine thyroid blocking? | High doses of potassium iodide are effective to block radioiodine thyroid uptake and to prevent development of thyroid cancer years later. | (131)I, when released in a radiological or nuclear accident as happened recently
in Fukushima, Japan, may cause thyroid cancer as a long-term consequence. Iodine
thyroid blocking (ITB) is known to reduce the risk of developing thyroid cancer.
Potential adverse effects of ITB have not been systematically investigated... |
Does gavestinel improve outcomes of stroke patients? | No. In a randomized clinical trial, treatment with gavestinel within 6 hours of acute ischaemic stroke did not improve outcome. | CONTEXT: Elucidation of the ischemic cascade has helped stimulate development of
neuroprotective drugs aimed at limiting brain injury in the hours following an
ischemic stroke. To date, none of these drugs has shown clinical efficacy.
OBJECTIVE: To examine the efficacy of gavestinel (GV150526), an antagonist of
the ... |
Can Systemic Lupus Erythematosus cause seizures? | In the extant literature, an increased risk of seizures has been described in several inflammatory/autoimmune disorders, including systemic lupus erythematosus (SLE) | OBJECTIVE: To evaluate the frequency and risk factors of epileptic seizures in a
large cohort of patients with systemic lupus erythematosus (SLE).
METHODS: Five hundred nineteen consecutive patients with SLE were studied, with
follow-up ranging from 4 to 7.8 years. The type and frequency of risk factors
associated w... |
What disease is associated with a Malar rash? | Cutaneous manifestations of SLE are frequently the presenting symptoms, typically noted in the classic malar "butterfly" rash; | BACKGROUND: Systemic lupus erythematosus (SLE) may involve any number of organ
systems and varies greatly in the severity and type of involvement. Cutaneous
manifestations of SLE are equally numerous and varied throughout the course of
the disease within an individual, as well as varying between patients. Cutaneous ... |
What is the mechanism of action of rogaratinib? | Rogaratinib is a highly potent and selective small-molecule pan-fibroblast growth factor receptor (FGFR) inhibitor (FGFR1-4) for oral application currently being investigated in phase 1 clinical trials for the treatment of cancer. | Rogaratinib (BAY 1163877) is a highly potent and selective small-molecule
pan-fibroblast growth factor receptor (FGFR) inhibitor (FGFR1-4) for oral
application currently being investigated in phase 1 clinical trials for the
treatment of cancer. In this publication, we report its discovery by de novo
structure-based... |
Which epigenetic mark is deposited by PRC2? | H3K27me3 is the major histone methyltransferase activity of PRC2. | Organization of chromatin by epigenetic mechanisms is essential for establishing
and maintaining cellular identity in developing and adult organisms. A key
question that remains unresolved about this process is how epigenetic marks are
transmitted to the next cell generation during cell division. Here we provide a
... |
Is Impetigo a viral infection that affects the skin? | No, impetigo is a highly contagious bacterial skin infection | This article reviews in detail the pathogenesis, clinical characteristics and
management of impetigo in children. Impetigo is the most common bacterial skin
infection of children. Most cases of nonbullous impetigo and all cases of
bullous impetigo are caused by Staphylococcus aureus. The remainder of cases of
nonbu... |
List diseases that are caused by the Meningococcus B? | The prevention of paediatric bacterial meningitis and septicaemia has recently entered a new era with the availability of two vaccines against capsular group B meningococcus | Sepsis and meningitis caused by serogroup B meningococcus are devastating
diseases of infants and young adults, which cannot yet be prevented by
vaccination. By genome mining, we discovered GNA1870, a new surface-exposed
lipoprotein of Neisseria meningitidis that induces high levels of bactericidal
antibodies. The ... |
Should Lubeluzole be used for treatment of ischemic stroke? | No. Lubeluzole failed to consistently show an efficacy in the treatment of acute stroke and should not be used. | BACKGROUND AND PURPOSE: We aimed to assess the safety and efficacy of lubeluzole
in patients with a clinical diagnosis of acute (< 6 hours) ischemic stroke in
the carotid artery territory.
METHODS: A randomized, double-blind, placebo-controlled multicenter trial was
conducted in 232 patients. Because treatment was a... |
What is vivotif? | Vivotif(r) is an oral live attenuated vaccine which contains a mutated strain of Salmonella (Ty21a) and reproduces the natural infection. The vaccine was first licensed in Europe in 1983 and in the US in 1989, and over the years it has proved efficacious and safe. It is indicated for adults and children from 5 years of... | Cases of diarrhoeal disease number from 1.7 to 5 billion per year worldwide. One
of the main causes of diarrhoeal disease is typhoid fever, which is a
potentially life-threatening multi-systemic illness. According to the most
recent estimates, a total of 26.9 million typhoid fever episodes occurred in
2010. The geo... |
List types of cancer where TBC1 domain family member 16 (TBC1D16) is involved | TBC1D16 is a predictive marker for favorable prognosis of Epithelial ovarian cancer (EOC). In addition, a short isoform of TBC1D16 (TBC1D16-47KD) exacerbates melanoma growth and metastasis both in vitro and in vivo. | Author information:
(1)Cancer Epigenetics and Biology Program, Bellvitge Biomedical Research
Institute, L'Hospitalet, Barcelona, Catalonia, Spain.
(2)Molecular Oncology Group, Cancer Research UK Manchester Institute,
Manchester, UK.
(3)Translational Research Laboratory, Catalan Institute of Oncology, Bellvitge
Biome... |
What does osanetant and talnetant have in common? | Osanetant and talnetant are selective NK3 antagonists. Preclinical and Phase II clinical results of osanetant and talnetant in schizophrenic patients have indicated that NK(3) antagonists may provide significant improvement of the positive symptoms and cognitive impairment associated with this disorder. | INTRODUCTION: The neurokinin 3 (NK(3)) receptor is a GPCR that has been shown to
modulate monoaminergic systems within regions of the brain implicated in
schizophrenia. Preclinical and Phase II clinical results of osanetant and
talnetant in schizophrenic patients have indicated that NK(3) antagonists may
provide si... |
List SLC25A46-related pathologies | The mitochondrial protein SLC25A46 has been recently identified as a novel pathogenic cause in a wide spectrum of neurological diseases, including inherited optic atrophy, Charcot-Marie-Tooth type 2, Leigh syndrome, progressive myoclonic ataxia and lethal congenital pontocerebellar hypoplasia. | The mitochondrial protein SLC25A46 has been recently identified as a novel
pathogenic cause in a wide spectrum of neurological diseases, including
inherited optic atrophy, Charcot-Marie-Tooth type 2, Leigh syndrome, progressive
myoclonic ataxia and lethal congenital pontocerebellar hypoplasia. SLC25A46 is
an outer ... |
What is the target of galcanezumab? | Galcanezumab is a monoclonal antibody against calcitonin gene-related peptide (CGRP), is one of a novel class of new medicines for migraine prevention. | Conflict of interest statement: Conflict of Interest Disclosures: Drs
Skljarevski, Oakes, Zhang, Ferguson, Martinez, Camporeale, Johnson, Shan,
Carter, and Schacht are full-time employees of Eli Lilly and Company and/or one
of its subsidiaries, and are stockholders. Dr Goadsby reports receiving
consultant fees from... |
Which disease was studied in the CADISS trial? | CADISS was a prospective multicentre randomised-controlled trial in acute (within 7 days of onset) carotid and vertebral artery dissection. | Spontaneous internal carotid artery dissection is not an uncommon cause of
ischaemic stroke in younger patients, but multiple cervical arterial dissections
at presentation are uncommon. Recurrence of dissection in a previously normal
artery is common. In this case report we review the history, clinical findings
and... |
What is the human RCA locus size in bps? | The human RCA locus is located on chromosome 1 (CA1) and consists of approximately 750 kb. | CR1 (CD35) and CR2 (CD21) are structurally related integral transmembrane
glycoproteins that function as cellular receptors for human C3b and C3dg,
respectively. The primary sequence of the most common structural allotype of CR1
and that of CR2 have been established, and ligand binding on the molecules has
been map... |
Is there a role for TET proteins in invariant natural killer T cells (iNKT) cell fate? | Yes. Tet2-TET proteins regulate the lineage specification and TCR-mediated expansion of iNKT cells. TETs are ubiquitously expressed and play diverse roles in gene regulation, imprinting, insulation, intra/interchromosomal interactions, nuclear compartmentalisation, and alternative splicing. Depletion of Tet2 and its li... | TET proteins oxidize 5-methylcytosine in DNA to 5-hydroxymethylcytosine and
other oxidation products. We found that simultaneous deletion of Tet2 and Tet3
in mouse CD4+CD8+ double-positive thymocytes resulted in dysregulated
development and proliferation of invariant natural killer T cells (iNKT cells).
Tet2-Tet3 d... |
What is the purpose of the Sunnybrook Facial Grading System? | The Sunnybrook facial grading system is applied to evaluate facial function in patients with facial palsy. | OBJECTIVE: To investigate the extent of within-system reliability and
between-system correlation for the "Sydney" and "Sunnybrook" systems of grading
facial nerve paralysis, and to examine the interobserver reliability and
agreement of the "House Brackmann" grading system.
STUDY DESIGN: A fixed-effects reliability s... |
What is the function of the PDZ domain in SATB1? | N-terminal PDZ-like domain of chromatin organizer SATB1 contributes towards its function as transcription regulator. We found this dimerization region to have sequence similarity to PDZ domains, which have been previously shown to be involved in signaling by conferring protein-protein interactions. These studies clearl... | SATB1 is expressed primarily in thymocytes and orchestrates temporal and spatial
expression of a large number of genes in the T-cell lineage. SATB1 binds to the
bases of chromatin loop domains in vivo, recognizing a special DNA context with
strong base-unpairing propensity. The majority of thymocytes are eliminated ... |
What cellular process is the protein clathrin involved in? | Clathrin is a central regulator of endocytosis in all eukaryotes that plays a role in bacterial and plastid differentiation | Receptor-mediated endocytosis proceeds by transfer of receptor-ligand complexes
from clathrin-coated pits at the cell surface to uncoated endocytic vesicles
termed receptosomes (or endosomes). These vesicles have now been purified more
than 37-fold based on their content of newly internalized epidermal growth
facto... |
Thymoquinone is ineffective against radiation induced enteritis, yes or no? | No, Thymoquinone has been found to be effective against radiation induced enteritis | Radiation enteritis is an old but emerging question induced by the application
of radiation. However, no effective drugs for radiation enteritis in clinic. In
this study, we found that thymoquinone (TQ) could mitigate intestinal damages
induced by irradiation. After exposure to irradiation, TQ-treated improved the
... |
Which are the databases for intrinsic protein disorders? | Intrinsic disorder (ID), i.e. the lack of a unique folded conformation at physiological conditions, is a common feature for many proteins, which requires specialized biochemical experiments that are not high-throughput. DisProt and MobiDB are databases for intrinsic protein disorders. | BACKGROUND: Intrinsic protein disorder is becoming an increasingly important
topic in protein science. During the last few years, intrinsically disordered
proteins (IDPs) have been shown to play a role in many important biological
processes, e.g. protein signalling and regulation. This has sparked a need to
better ... |
List the 5 different human immunoglobulin heavy chains. | The 5 human immunoglobulin heavy chains are Alpha, Delta Epsilon, Gamma and Mu | In mature B cells of mice and most mammals, cellular release of single H chain
Abs without L chains is prevented by H chain association with Ig-specific
chaperons in the endoplasmic reticulum. In precursor B cells, however, surface
expression of mu-H chain in the absence of surrogate and conventional L chain
has be... |
Has the Spanich flu virus been reconstructed? | Tes,
Reconstruction of the 1918 influenza virus has facilitated considerable advancements in our understanding of this extraordinary pandemic virus. | The influenza pandemic of 1918-1919 killed approximately 50 million people. The
unusually severe morbidity and mortality associated with the pandemic spurred
physicians and scientists to isolate the etiologic agent, but the virus was not
isolated in 1918. In 1996, it became possible to recover and sequence highly
d... |
What is the basis of the BLISS technique? | Here we present Breaks Labeling In Situ and Sequencing (BLISS), a versatile and quantitative method for genome-wide profiling of DNA double-strand breaks. | Precisely measuring the location and frequency of DNA double-strand breaks
(DSBs) along the genome is instrumental to understanding genomic fragility, but
current methods are limited in versatility, sensitivity or practicality. Here we
present Breaks Labeling In Situ and Sequencing (BLISS), featuring the following: ... |
List 3 NK3R antagonists. | NK3 receptor antagonists include MLE4901 (also known as AZD4901), SB222200 and ESN364. | CONTEXT: Women's health disorders are commonly treated by agents that suppress
the hypothalamic-pituitary-gonadal axis. NK3 receptor antagonism modulates this
axis with distinct pharmacology compared to existing therapies.
OBJECTIVE: The study aim was to evaluate safety, pharmacokinetics, and
pharmacodynamics on gon... |
Is Verubecestat effective for Alzheimer's Disease? | No. Verubecestat did not reduce cognitive or functional decline in patients with mild-to-moderate Alzheimer's disease and was associated with treatment-related adverse events. | The amyloid hypothesis has long been the central dogma in drug discovery for
Alzheimer's disease (AD), leading to many small-molecule and biological drug
candidates. One major target has been the β-site
amyloid-precursor-protein-cleaving enzyme 1 (BACE-1), with many big pharma
companies expending great resources in... |
Is Aptiganel effective for treatment of stroke? | No. Aptiganel is not efficacious in patients with acute ischemic stroke and may be harmful. | CONTEXT: Tissue plasminogen activator is the only thrombolytic agent approved in
the United States for treatment of acute ischemic stroke, and has limitations.
Aptiganel hydrochloride is a novel and selective ligand for the ion-channel site
of the N-methyl-D-aspartate receptor-channel complex and a promising
neurop... |
Is indinavir effective for treatment of amyotrophic lateral sclerosis? | No, indinavir is not effective for treatment of amyotrophic lateral sclerosis. | |
Is there an increased risk for meningiomas in childhood leukemia survivors? | Yes, the risk of meningiomas is higher in children treated with cranial irradiation for leukemia. | We report a case of meningioma diagnosed 23 years after high-dose cranial and
whole-body irradiation for the treatment of acute lymphocytic leukemia (ALL).
Radiotherapy in this case also caused early radiation injury to the lenses and
the pituitary gland, with growth retardation and mineralizing angiopathy.
Radiati... |
List the clinical characteristics of the Smith-Kingsmore syndrome (SKS) | Smith-Kingsmore syndrome (SKS) OMIM #616638, also known as MINDS syndrome (ORPHA 457485), is a rare autosomal dominant disorder reported so far in 23 patients. SKS is characterized by intellectual disability, macrocephaly/hemi/megalencephaly, and seizures. It is also associated with a pattern of facial dysmorphology an... | Author information:
(1)Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER),
ISCIII, Madrid, Spain.
(2)Molecular Endocrinology Section, Overgrowth Syndromes Laboratory, Instituto
de Genética Médica y Molecular (INGEMM), IdiPAZ, Hospital Universitario la Paz,
Universidad Autónoma de Madrid (UAM), ... |
What is ORMD-0801? | ORMD-0801 is an oral insulin capsule. Treatment with ORMD-0801 was associated with a significant 24.4% reduction in the frequencies of glucose readings >200 mg/dL (60.1 +- 7.9% pretreatment vs. 45.4 +- 4.9% during ORMD-0801 treatment; p = 0.023) and a significant mean 16.6% decrease in glucose area under the curve (AUC... | The unpredictable behavior of uncontrolled type 1 diabetes often involves
frequent swings in blood glucose levels that impact maintece of a daily
routine. An intensified insulin regimen is often unsuccessful, while other
therapeutic options, such as amylin analog injections, use of continuous glucose
sensors, and i... |
Does saracatinib promote oncogenesis? | No, saracatinib has antitumor activity. | Src is a nonreceptor tyrosine kinase involved in the cross-talk and mediation of
many signaling pathways that promote cell proliferation, adhesion, invasion,
migration, and tumorigenesis. Increased Src activity has been reported in many
types of human cancer, including gastric cancer. Therefore, this factor has been... |
Is BCL11B involved in schizophrenia? | Yes, BCL11B is associated with attention, memory, executive function and antipsychotic-induced schizophrenia. | SATB2 is associated with schizophrenia and is an important transcription factor
regulating neocortical organization and circuitry. Rare mutations in SATB2 cause
a syndrome that includes developmental delay, and mouse studies identify an
important role for SATB2 in learning and memory. Interacting partners BCL11B and... |
What is Synucleinopathy? | Synucleinopathy is an autosomal-dominant disease characterised by misfolding of presynaptic synuclein and the formation of Lewy bodies with ubiquitin-ligase activity. | Synucleinopathies are a group of neurodegenerative diseases that share a common
pathological lesion of intracellular protein inclusions largely composed by
aggregates of alpha-synuclein protein. Accumulating evidence, including genome
wide association studies, has implicated alpha-synuclein (SNCA) gene in the
etiol... |
Which receptor is modulated with Siponimod? | Siponimod is a functional sphingosine-1-phosphate (S1P) antagonist. | BACKGROUND: Siponimod is an oral selective modulator of sphingosine 1-phosphate
receptor types 1 and type 5, with an elimination half-life leading to washout in
7 days. We aimed to determine the dose-response relation of siponimod in terms
of its effects on brain MRI lesion activity and characterise safety and
tole... |
What is a zoonotic virus? | A zoonotic disease is a disease that can be passed from animals to humans. Zoonotic viruses may adapt to a human host eventually becoming endemic in humans, but before doing so punctuated outbreaks of the zoonotic virus may be observed. | Monkeypox virus (MPXV), a close relative of Variola virus, is a zoonotic virus
with an unknown reservoir. Interaction with infected wildlife, bites from
peri-domestic animals, and bushmeat hunting are hypothesized routes of infection
from wildlife to humans. Using a Risk Questionnaire, performed in
monkeypox-affect... |
Which drug is the first oral ghrelin receptor inverse agonist to be profiled in healthy subjects? | PF-05190457 is the first oral ghrelin receptor inverse agonist to be profiled in healthy subjects. | |
What is the function of BRD4? | As a member of the bromodomain and extraterminal (BET) family, BRD4 (bromodomain containing 4) can bind to acetylated histones and transcription factors, and is also able to recruit various transcriptional regulators. As transcriptional coactivator, BRD4 represses autophagy and lysosomal function. | The papillomavirus E2 protein is a critical viral regulatory protein with
transcription, DNA replication, and genome maintece functions. We have
previously identified the cellular bromodomain protein Brd4 as a major
E2-interacting protein and established that it participates in tethering bovine
papillomavirus type ... |
What is the protective efficacy of vaxchora against moderate to severe cholera? | The protective efficacy of vaxchora against moderate to severe cholera is 80-100%. | Effective and easy to administer cholera vaccines are in need more than ever,
for at risk populations and travellers alike. In many parts of the world cholera
is still endemic, causing outbreaks and constituting repeatedly serious public
health problems. The oral live cholera vaccine CVD 103-HgR (Orochol, Mutachol),... |
What is minodixil approved for? | Minoxidil is the only topical drug approved for the treatment of both female and male pattern hair loss. In the US, minoxidil is approved over-the-counter (OTC) at a maximum concentration of 5%. | The National Institutes of Health (US NIH, 2018) estimates that in the US
approximately 50 million men and 30 million women suffer from AGA (also known as
pattern hair loss). Minoxidil is the only topical drug for the treatment of both
female and male pattern hair loss. In the US, minoxidil is approved
over-the-cou... |
Are Chernobyl survivors at increased risk for breast cancer? | Yes, Chernobyl survivors are at increased risk for breast cancer. | Radiation is a carcinogen, interacting with DNA to produce a range of mutations.
Irradiated cells also show genomic instability, as do adjacent non-irradiated
cells (the bystander effect); the importance to carcinogenesis remains to be
established. Current knowledge of radiation effects is largely dependent on
evid... |
What is AZD0530 an inhibitor of? | AZD0530 is a highly selective, dual Src/Abl kinase inhibitor. | Saracatinib, a highly selective, dual Src/Abl kinase inhibitor, is currently in
a Phase II clinical trial for the treatment of ovarian cancer. In our study, we
investigated the effect of saracatinib on the reversal of multidrug resistance
(MDR) induced by ATP-binding cassette (ABC) transporters in vitro and in vivo.... |
Is SATB1 necessary for T-cell maturation? | Special AT-rich sequence binding protein 1 (SATB1) regulates gene expression essential in immune T-cell maturation and switching of fetal globin species, by binding to matrix attachment regions (MARs) of DNA and inducing a local chromatin remodeling. | Special AT-rich binding protein 1 (SATB1) nuclear protein, expressed
predomitly in T cells, regulates genes through targeting chromatin remodeling
during T-cell maturation. Here we show SATB1 family protein induction during
early human adult erythroid progenitor cell differentiation concomitant with
epsilon-globin ... |
For how long do Drosophila embryos use maternal genome mRNA? | mitoses before interphase 14 run on maternal products and occur in metasynchronous waves | In Drosophila embryogenesis, mitotic control undergoes a significant transition
during the 14th interphase. Mitoses before interphase 14 run on maternal
products, and occur in metasynchronous waves. Mitoses after interphase 14
require zygotic transcription, and occur asyncronously in an intricate, highly
ordered sp... |
What is the use of erenumab? | Erenumab is a fully human monoclonal antibody calcitonin gene-related peptide (CGRP) receptor antagonist-for the prevention of migraine. CGRP is a vasodilatory neuropeptide implicated in the pathophysiology of migraine and treatment with erenumab was associated with significant reductions in migraine frequency in phase... | Monoclonal antibodies (mAbs) targeting calcitonin gene-related peptide (CGRP)
signaling are being explored as prophylactic treatments for migraine. Erenumab
(AMG 334) is the first potent, selective, and competitive human mAb antagonist
of the CGRP receptor. We report the data from two phase I studies assessing the
... |
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