question stringlengths 13 291 | contexts stringlengths 2 24.7k | ground_truth stringlengths 6 6.9k ⌀ | exact_answer stringlengths 2 710 |
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Which antibody is implicated in the Bickerstaff's brainstem encephalitis? | ['In addition, BBE and Fisher syndrome, which are clinically similar and are both associated with the presence of the immunoglobulin G anti-GQ1b antibody, represent a specific autoimmune disease with a wide spectrum of symptoms that include ophthalmoplegia and ataxia.', 'The syndrome defined by Bickerstaff of progressi... | ['The syndrome defined by Bickerstaff of progressive, external ophthalmoplegia and ataxia, with disturbance of consciousness or hyperreflexia, has subsequently been associated with antiganglioside antibody, anti-GQ1b'] | ['antiganglioside antibody'] |
Which bone protein is used in archaelogy for dating and species identification? | ['Collagen was extracted from modern and archaeological cod bones using a weak HCl solution and analysed for its sulphur isotopic composition by isotope ratio mass spectrometry (IRMS)', 'With the high sensitivity of current generation mass spectrometers, ZooMS provides a non-destructive and highly cost-effective method... | ['Collagen is the main protein extracted from bones and analyzed by mass spectrometry. It is traditionally used for radiocarbon dating but sophisticated new technologies are using collagen for species identification as well.'] | ['Collagen'] |
What is the indication of ARCALYST? | ['Rilonacept (Arcalyst(TM); Regeneron) is the first us Food and Drug Administration-approved treatment for familial cold autoinflammatory syndrome and Muckle-Wells syndrome and the first in a new line of drugs designed for longer-acting IL-1 blockade.', ' In February 2008, Regeneron received Orphan Drug approval from t... | ['In February 2008, Regeneron received Orphan Drug approval from the Food and Drug Administration for rilonacept in the treatment of two cryopyrin-associated periodic syndromes (CAPS) disorders, namely, familial cold-induced autoinflammatory syndrome (FCAS) and Muckle-Wells syndrome (MWS), for children and adults 12 ye... | ['cryopyrin-associated periodic syndromes (CAPS) disorders'] |
Is glycyl-tRNA synthetase gene involved in the development of Charcot-Marie-Tooth disease? | ['Charcot-Marie-Tooth disease type 2D (CMT2D) is an autosomal-dominant axonal peripheral neuropathy characterized by impaired motor and sensory function in the distal extremities. Mutations in the glycyl-tRNA synthetase (GARS) gene cause CMT2D', 'Dominant mutations in GARS cause rare forms of Charcot-Marie-Tooth diseas... | ['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.', 'Charcot-Marie-Tooth disease type 2D (CMT2D) is an autosomal-dominant axonal peripheral neuropath... | ['yes'] |
Which gene has been implicated in Majeed Syndrome? | ['Homozygous mutations in LPIN2 are responsible for the syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia (Majeed syndrome).', 'The gene was mapped to a 5.5 cM interval (1.8 Mb) on chromosome 18p. Examination of genes in this interval led to the identification of homozygous... | ['Homozygous mutations in LPIN2 are responsible for the syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia (Majeed syndrome).', 'Genetic alteration of LPIN2 in humans is known to cause Majeed syndrome.'] | ['LPIN2'] |
Does burning mouth syndrome preferentially affect post-mepopausal women? | ['It is observed principally in middle-aged patients and postmenopausal women and may be accompanied by xerostomia and altered taste.', 'It occurs more commonly in middle-aged and elderly women and often affects the tongue tip and lateral borders, lips, and hard and soft palate. ', 'BMS is a chronic disorder that frequ... | ['BMS is observed principally in middle-aged patients and postmenopausal women \nBMS mostly affects elderly citizens, especially postmenopausal women with prevalence up to 12-18%.'] | ['yes'] |
What is the treatment of acute pericarditis? | ['Recurrences develop in up to 20-50% of patients with acute pericarditis. Although different causes of recurrent pericarditis have been identified, the etiology remains obscure in most cases which are therefore labelled as idiopathic.', 'A poor response to colchicine treatment and/or a steroid-dependence may be the cl... | ['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 ... | [] |
List common features of Shapiro syndrome | ['Shapiro syndrome is defined as the constellation of periodic hypothermia and hyperhidrosis along with agenesis of the corpus callosum by Shapiro et al. in 1969.', 'Shapiro syndrome is a rare entity, comprising a triad of recurrent hypothermia, hyperhidrosis and congenital agenesis of the corpus callosum. ', 'We prese... | ['Shapiro syndrome is a rare entity, comprising a triad of recurrent hypothermia, hyperhidrosis and congenital agenesis of the corpus callosum. Hypermelatoninemia has also been described in a patient with Shapiro syndrome.'] | ['recurrent hypothermia', 'hyperhidrosis', 'congenital agenesis of the corpus callosum'] |
What is the role of extracellular signal-related kinases 1 and 2 (ERK1/2) proteins in craniosynostosis? | ['Reduced dosage of ERF causes complex craniosynostosis in humans and mice and links ERK1/2 signaling to regulation of osteogenesis', 'we show that reduced dosage of ERF, which encodes an inhibitory ETS transcription factor directly bound by ERK1/2 (refs. 2,3,4,5,6,7), causes complex craniosynostosis (premature fusion ... | ['Reduced dosage of ERF, which encodes an inhibitory ETS transcription factor directly bound by ERK1/2 causes complex craniosynostosis (premature fusion of the cranial sutures) in humans and mice. Features of this newly recognized clinical disorder include multiple-suture synostosis, craniofacial dysmorphism, Chiari ma... | [] |
what is the role of FGF-2 in cardiac regeneration after myocardial infarction? | ['To investigate whether transmyocardial drilling revascularization combined with heparinized basic fibroblast growth factor (bFGF)-incorporating degradable stent implantation (TMDRSI) can promote myocardial regeneration after acute myocardial infarction', 'The new method has shown to be capable of promoting CSCs proli... | ['Exogenous FGF-2 was shown to increase angiogenesis and myocardial perfusion, promote myocardial regeneration by activating the SDF-1α/CXCR4 axis, and thereby improve the cardiac function after myocardial infarction. Furthermore, prevascularization with basic FGF-incorporated microspheres enhances the benefits of card... | [] |
How can microRNAs be used as potential biomarkers and therapeutic targets in the management of ovarian cancer? | [' in the carcinogenesis of ovarian cancer through deregulation of cell proliferation. They may be novel biomarkers for early detection or therapeutic targets of ovarian cancer", "MicroRNA let-7a: a potential marker for selection of paclitaxel in ovarian cancer management", " The study... | MicroRNAs can serve as potential biomarkers for early detection or therapeutic targets in the management of ovarian cancer. For example, miRNAs like let-7a, let-7i, miR-200c, miR-21, miR-92, miR-93, miR-132, miR-26a, let-7b, and miR-145 have been identified as biomarkers with therapeutic and predictive potential in ova... | [] |
Which event results in the acetylation of S6K1? | ['S6K1 is acetylated at lysine 516 in response to growth factor stimulation', 'In addition to phosphorylation, we have recently shown that S6K1 is also targeted by lysine acetylation', 'Here, using tandem mass spectrometry we have mapped acetylation of S6K1 to lysine 516, a site close to the C-terminus of the kinase th... | ['Using acetyl-specific K516 antibodies, we show that acetylation of endogenous S6K1 at this site is potently induced upon growth factor stimulation. We propose that K516 acetylation may serve to modulate important kinase-independent functions of S6K1 in response to growth factor signalling. Following mitogen stimulati... | [] |
Does surgery for ovarian endometriomas improve fertility? | ['CONCLUSION: Endometriomas per se appear to be the main cause of the reduced long-term reproductive performance of the affected patients, with little or no contribution from surgery. Furthermore, endometrioma surgery seems to improve the success rates of fertility treatment.', 'Amongst the 38 women desiring pregnancy ... | ['Yes, endometrioma surgery seems to improve the success rates of fertility treatment.'] | ['yes'] |
What is REVIGO? | ['REVIGO summarizes and visualizes long lists of gene ontology terms.', 'REVIGO is a Web server that summarizes long, unintelligible lists of GO terms by finding a representative subset of the terms using a simple clustering algorithm that relies on semantic similarity measures. Furthermore, REVIGO visualizes this non-... | ['REVIGO summarizes and visualizes long lists of gene ontology terms.', 'REVIGO is a Web server that summarizes long, unintelligible lists of GO terms by finding a representative subset of the terms using a simple clustering algorithm that relies on semantic similarity measures. Furthermore, REVIGO visualizes this non-... | [] |
Is depression associated with poor prognosis of brain tumor patients? | ['Before surgery 27 patients (35%) had BDI scores indicating the presence of depression. These scores were significantly higher in patients with a history of depression (p = 0.017) and in those with a lower functional outcome (p = 0.015).', 'A lower functional status (KPS score < or = 70) in patients was significantly ... | ['Yes. In brain tumor patients depression is associated with shorter survival and worse functional outcomes.'] | ['yes'] |
How early during pregnancy does non-invasive cffDNA testing allow sex determination of the fetus? | ['The use of cffDNA in fetal sex determination during the first trimester of pregnancy of female DMD carriers.', 'We determined fetal sex during the first trimester using a quantitative real-time polymerase chain reaction (PCR) assay of cffDNA in pregnant carriers of DMD.', 'Early fetal gender determination using real-... | ['Using cffDNA from maternal blood, the fetal gender can be determined as early as 6 to 10 weeks of gestation (during the first trimester of pregnancy).'] | ['6th to 10th week of gestation', 'first trimester of pregnancy'] |
What are the signatures of aggressive periodontitis? | ['This pilot study examined gene expression signatures in pathological gingival tissues of subjects with chronic or aggressive periodontitis, and explored whether new subclasses of periodontitis can be identified based on gene expression profiles. A total of 14 patients, seven with chronic and seven with aggressive per... | ['Aggressive periodontitis does not differ from chronic periodontitis from a microbial profile point of view but there are distinctive immunological signatures, including a higher expression in IgG against most periodontal pathogens and a more intense regulatory mechanism of metabolic processes.'] | [] |
Which fimA genotypes are associated with disease? | [' FimA has been characterized as an important virulence factor for P. gingivalis, and many studies, both animal experiments and clinical investigations, have characterized fimA genotypes II, Ib, and IV to be associated with disease (periodontitis and cardiovascular disease) ', 'Long fimbriae (FimA) are important virul... | ['FimA has been characterized as an important virulence factor for P. gingivalis, and many studies, both animal experiments and clinical investigations, have characterized fimA genotypes II, Ib, and IV to be associated with disease (periodontitis and cardiovascular disease)'] | ['genotypes II', 'genotypes Ib', 'genotypes IV'] |
Which is the largest metabolic gene cluster in yeast? | ['The DAL cluster is the largest metabolic gene cluster in yeast and consists of six adjacent genes encoding proteins that enable Saccharomyces cerevisiae to use allantoin as a nitrogen source.', 'The DAL cluster is the largest metabolic gene cluster in yeast and consists of six adjacent genes encoding proteins that en... | ['The DAL cluster is the largest metabolic gene cluster in yeast and consists of six adjacent genes encoding proteins that enable Saccharomyces cerevisiae to use allantoin as a nitrogen source.', 'the dal cluster is the largest metabolic gene cluster in yeast and consists of six adjacent genes encoding proteins that en... | ['The DAL cluster'] |
Global quantitative phosphoproteomic analyses are emerging. List the preferred technologies for the enrichment for phosphorylated peptides? | ['TiSH--a robust and sensitive global phosphoproteomics strategy employing a combination of TiO2, SIMAC, and HILIC.', 'An initial TiO(2) phosphopeptide pre-enrichment step is followed by post-fractionation using sequential elution from IMAC (SIMAC) to separate multi- and mono-phosphorylated peptides, and hydrophilic in... | ['There are many different approaches to enrich for phosphorylated peptides: titanium dioxide, IMAC, simple derivatization through phosphoramidate chemistry and antibodies.'] | ['enriched for phosphorylated peptides using titanium dioxide', 'sequential elution from IMAC', 'simple derivatization procedure based on phosphoramidate chemistry', 'antiphosphotyrosine antibodies'] |
How do septins as GTP-binding proteins impact various cellular functions like cytokinesis, apoptosis, infection, neurodegeneration, and neoplasia? | ['["discover that septins, a component of the cytoskeleton, recognize membrane curvature at the micron scale, a common morphological hallmark of eukaryotic cellular processes.", "Septins are an evolutionarily conserved family of GTP-binding proteins. They are involved in diverse processes including cytokinesis, apoptos... | Septins, as GTP-binding proteins, impact various cellular functions like cytokinesis, apoptosis, infection, neurodegeneration, and neoplasia. They are involved in diverse processes including cytokinesis, apoptosis, infection, neurodegeneration, and neoplasia. Septins have been implicated in a diverse range of cancers, ... | [] |
Which tool is used for the identification of recurrent variants in noncoding regions? | ['LARVA: an integrative framework for large-scale analysis of recurrent variants in noncoding annotations.', "In cancer research, background models for mutation rates have been extensively calibrated in coding regions, leading to the identification of many driver genes, recurrently mutated more than expected. Noncoding... | ['LARVA is an integrative framework for large-scale analysis of recurrent variants in noncoding annotations. It integrates variants with a comprehensive set of noncoding functional elements, modeling the mutation counts of the elements with a β-binomial distribution to handle overdispersion. LARVA, moreover, uses regio... | ['LARVA'] |
Which are the main histone modifications associated with enhancers? | ['Using H3K4me2 as a mark for active enhancers', 'Hyperacetylation of histones H3 and H4, a mark of active chromatin, is established broadly across target loci by enhancers that function over long distances', 'The enhancer region itself was marked by mono-methylation at K4 and K9, distinguishing it from the methyl mark... | ['Histone 3 lysine 4 mono- (H3K4me1) and di-methylation (H3K4me2) are the main post-transcriptional histone modifications related to enhancer activity.', 'Using H3K4me2 as a mark for active enhancers (PMID: 22270183) Hyperacetylation of histones H3 and H4, a mark of active chromatin, is established broadly across targe... | ['Histone 3 lysine 4 mono-methylation (H3K4me1)', 'Histone 3 lysine 4 di-methylation (H3K4me2)'] |
What is known about potential implication of thyroid hormone receptors in arterial hypertension? | ['For the first time, our study showed associations between the THRA rs939348 polymorphism and systolic BP and the risk of hypertension but not with CHD, although we admit that the statistical power available to study any relationship with CHD was very limited.', 'The results of Western blot analyses showed that the le... | ['thyroid hormone receptors are implicated in arterial hypertension', 'An associations between the THRA rs939348 polymorphism and systolic BP and the risk of hypertension has been observed\nThe levels of the three thyroid hormone receptors isoforms do not differ significantly between spontaneous hypertensive rats and c... | [] |
Which histone mutations have been associated with pediatric gliomas? | ['Detecting the H3F3A mutant allele found in high-grade pediatric glioma by real-time PCR', ' It has been reported recently that about 80% of DIPG cases and 70% of midline glioblastomas contain a mutation at one allele of the H3F3A gene (encoding histone H3 variant H3.3), replacing the lysine 27 with methionine (K27M).... | ['About 80% of Diffuse intrinsic pontine glioma (DIPG) cases and 70% of midline glioblastomas contain a mutation at one allele of the H3F3A gene (encoding histone H3 variant H3.3), replacing the lysine 27 with methionine (K27M). Moreover, approximately 30% of pediatric high grade gliomas (pedHGG) including GBM and DIPG... | ['K27M in H3F3A', 'G34R/V in HIST1H3B'] |
Which glands are subject to attack by lymphocytes in Sjogren's syndrome? | ["In Sjögren's syndrome the autoimmune response is directed against the exocrine glands, which, as histopathological hallmark of the disease, display persistent and progressive focal mononuclear cell infiltrates.", "Sjögren's syndrome (SS) is an autoimmune disease characterized by clonal B cell attack of the exocrine g... | ["Sjögren's syndrome (SjS) is a human autoimmune disease characterized by exocrine dysfunction resulting from chronic autoimmune attack primarily against the lacrimal and/or salivary glands."] | ['The lacrimal and/or salivary glands'] |
Which method is used for prediction of novel microRNA genes in cancer-associated genomic regions? | [' In this work we present a new computational tool (SSCprofiler) utilizing a probabilistic method based on Profile Hidden Markov Models to predict novel miRNA precursors. Via the simultaneous integration of biological features such as sequence, structure and conservation, SSCprofiler achieves a performance accuracy of... | ['SSCprofiler is a computational tool utilizing a probabilistic method based on Profile Hidden Markov Models to predict novel miRNA precursors. Via the simultaneous integration of biological features such as sequence, structure and conservation, SSCprofiler achieves a performance accuracy of 88.95% sensitivity and 84.1... | ['SSCprofiler'] |
What is the use of emulsion PCR in Next Generation Sequencing? | ['Emulsion PCR-coupled target enrichment: an effective fishing method for high-throughput sequencing of poorly preserved ancient DNA', 'We present a unified strategy in which emulsion PCR is coupled with target enrichment followed by next-generation sequencing. The method made it possible to obtain efficiently non-dupl... | ['Prior to Next Generation Sequencing reactions, DNA libraries are constructed, amplified with emulsion PCR, and enriched with the use of enrichment beads. The library samples are then loaded to a sequencing chip and analyzed on an NGS platform.'] | [] |
Are shadow enhancers associated with development? | ['Critical developmental control genes sometimes contain "shadow" enhancers that can be located in remote positions, including the introns of neighboring genes', 'These results suggest that shadow enhancers represent a novel mechanism of canalization whereby complex developmental processes "bring about one definite end... | ['Yes. Critical developmental control genes sometimes contain shadow enhancers that can be located in remote positions, including the introns of neighboring genes'] | ['yes'] |
Abnormality in which vertebral region is important in the Bertolotti's syndrome? | ["Bertolotti's syndrome (BS), a form of lumbago in lumbosacral transitional vertebrae, is an important cause of low back pain in young patients. ", ' Common causes of back pain were the ipsilateral L5-S1 facet joint, neoarticulation, the SI joint, and disc degeneration. ', "Patients with Bertolotti's syndrome have char... | ["Lumbosacral vertebral region is implicated in the Bertolotti's syndrome. Lumbosacral transitional vertebra is an anatomical variation of the fifth lumbar vertebra in which an enlarged transverse process can form a joint or fusion with the sacrum or ilium. Patients often complain of intractable sciatica that arises fr... | ['lumbosacral'] |
Are piRNAs involved in gene silencing? | ['In Drosophila ovaries, the nuclear Piwi protein is required for transcriptional silencing of transposons, though the precise mechanisms by which this occurs are unknown.', 'Here we show that the CG9754 protein is a component of Piwi complexes that functions downstream of Piwi and its binding partner, Asterix, in tran... | ['Piwi induces piRNA-guided transcriptional silencing and establishment of a repressive chromatin state. piRNA-guided slicing of transposon transcripts enforces their transcriptional silencing via specifying the nuclear piRNA repertoire. Transcriptional silencing implies a piRNA-mediated formation of repressive chromat... | ['yes'] |
What is the Orco protein in mosquitos? | ['Insect odorant receptors function as heteromeric odorant-gated cation channels comprising a conventional odorant-sensitive tuning receptor, and a conserved co-receptor (Orco)', 'Insects sense odours via several chemosensory receptor families, including the odorant receptors (ORs), membrane proteins that form heterome... | ['Odorant co-receptor.'] | [] |
List fish anti-freeze proteins. | ['the anti-freeze glycoprotein of Antarctic and Arctic notothenoids, ', 'pe III anti-freeze protein (AFP)', 'AFP I or AFP III', 'type III anti-freeze proteins ', 'wild type III thermal hysteresis protein', 'Thermal hysteresis proteins (THPs) have been found in vertebrates, invertebrates, plants, bacteria and fungi and ... | ['AFP-I\nAFP-II\nAFP-III\nAnti-freeze glycoprotein\nThermal hysteresis protein'] | ['anti-freeze protein-3', 'AFP-III', 'anti-freeze glycoprotein', 'Thermal hysteresis protein', 'AFP-I', 'AFP-II'] |
What is the role of probiotics in gastrointestinal disease? | ['The overall response rate was 80.5%, of which 69.5% of respondents said they recommended or prescribed probiotic food supplements to their patients, including 53.4% of surgeons and 80.8% of gastroenterologists (P = 0.00013). The most popular probiotic supplements among surgeons were probiotic-containing yoghurt and d... | ['Probiotics are live, microbial food supplements that benefit the host animal by improving intestinal microbial balance. Across all 11 probiotic species and eight different gastrointestinal diseases - Irritable Bowel Syndrome (IBS), Helicobacter pylori infection (HPP), Necrotizing Enterocolitis (NEC), Pouchitis (Pou... | [] |
Does the TOP2B/TOP2A expression ratio affect the response to AML chemotherapy? | ['High TOP2B/TOP2A expression ratio at diagnosis correlates with favourable outcome for standard chemotherapy in acute myeloid leukaemia', 'Genes with distinct expression profiles such as TOP2B/TOP2A expression ratio at diagnosis can be employed for outcome prediction after the treatment with standard regimens in AML p... | ['High TOP2B/TOP2A expression ratio at diagnosis correlates with favourable outcome for standard chemotherapy in acute myeloid leukaemia Genes with distinct expression profiles such as TOP2B/TOP2A expression ratio at diagnosis can be employed for outcome prediction after the treatment with standard regimens in AML pati... | ['yes'] |
Which enzymes synthesize catecholamines in adrenal glands? | ['We analyzed the mRNA levels of catecholamine-synthesizing enzymes: tyrosine hydroxylase (TH), aromatic L-amino acid decarboxylase (AAAD), dopamine-β-hydroxylase (DBH) and phenylethanolamine N-methyltransferase (PNMT) in adrenal glands of 18 pigs with chronic systolic non-ischaemic HF (tachycardia-induced cardiomyopat... | ['The enzymes that synthesize catecholamines in adrenal glands are:\n1) Tyrosine Hydroxylase (TH)\n2) Aromatic L-amino acid decarboxylase (AAAD)\n3) Dopamine β-hydroxylase (DBH)\n4) Phenylethanolamine N-methyltransferase (PNMT)'] | ['Tyrosine Hydroxylase', 'TH', 'Aromatic L-amino acid decarboxylase', 'AAAD', 'AADC', 'DDC', 'Dopamine β-hydroxylase', 'DBH', 'Phenylethanolamine N-methyltransferase', 'PNMT'] |
What is the role of phycoerythrin as a major light-harvesting pigment in red algae and cyanobacteria? | ['["An extensive range of pigments including phycobiliproteins are present in algae. C-phycocyanin (C-PC), a phycobiliprotein, is one of the key pigments of Spirulina", "Spirulina platensis produces nutraceutical product C-phycocyanin (C-PC)", "C-Phycocyanin (C-Pc) is one of the major biliprotein pigments of unicellula... | Phycoerythrin is a major light-harvesting pigment of red algae and cyanobacteria that is widely used as a fluorescent probe and analytical reagent. | [] |
Can mutations in Calmodulin cause ventricular fibrillation? | ['We characterized a family presenting with a history of ventricular fibrillation (VF) and sudden death without ECG or echocardiographic abnormalities at rest. Two siblings died suddenly at the ages of 9 and 10 years, and another two were resuscitated from out-of-hospital cardiac arrest with documented VF at age 10 and... | ['Yes, mutations in CALM underly IVF manifesting in childhood and adolescence.'] | ['yes'] |
Is low T3 syndrome related with high BNP in cardiac patients? | ['BNP and fT3 are independently associated with exercise capacity in severely compromised HF patients.', 'fter adjustment for known confounders, NT-pro-BNP was significantly associated with fT3 and low-T3 syndrome. fT3 (HR 0.58, 95%CI 0.34-0.98) and low-T3 syndrome (HR 3.0, 95%CI 1.4-6.3) were predictive for mortality ... | ['BNP and fT3 are independently associated in severely compromised HF patients.\nNT-pro-BNP was significantly associated with low-T3 syndrome in cardiac patients.\nHigher NT-pro BNP concentrations are related to lower total T3 concentrations in cardiac patients'] | ['yes'] |
What is a benefit of being g6PD-deficient? | ['A central position of the PPP for malaria parasites is supported by the fact that human G6PD deficiency protects to a certain degree from malaria infections.', ' The beneficial effect of thalassemia minor, sickle-cell trait, and glucose-6-phosphate dehydrogenase deficiency on survival of malaria infection may well be... | ['Increased resistance to malaria, reduces the risk of coronary diseases, beneficial effect in terms of longevity'] | ['There is evidence of increased resistance to malaria.'] |
Which extra thyroid tissues have thyrotropin (TSH) receptors? | ['GD orbital fibroblasts, which comprise a mixture of CD34(+) and CD34(-) cells, express much lower levels of Tg and TSHR', 'Previously, we found that CD34(+) progenitor cells, known as fibrocytes, express functional TSHR, infiltrate the orbit, and comprise a large subset of orbital fibroblasts in TAO. ', 'TSH induced ... | ['TSH receptors are expressed also in extrathyroid tissues. TSH receptors seem to be functional. Extrathyroid tissues include fibrobasts of the orbit and adipose tissue\nThe principal tissues with TSH receptors are:\nadippose tissue\n orbital fibrotic tissue'] | ['adipose tissue', 'fibrotic tissue'] |
Which intermediate filament (IF) protein can be used as a non-specific marker of the neuronal precursor cells of the subventricular zone? | ["Nestin is a unique intermediate filament protein. While it is robustly expressed in developing brain, postnatal expression is limited to the brain's subventricular zone (SVZ)", 'nestin, a marker protein for precursor cells in the subventricular zone', 'adult subventricular zone (SVZ) stem and progenitor cells express... | ["Nestin can be used as a nonspecific marker protein for precursor cells in the subventricular zone (SVZ). Nestin is a unique intermediate filament protein. While it is robustly expressed in developing brain, postnatal expression is limited to the brain's SVZ."] | ['Nestin'] |
Has protein citrullination been implicated in rheumatoid arthritis? | [': Citrullination has become a hot topic within recent years due to its involvement in diseases such as rheumatoid arthritis (RA), multiple sclerosis and fibrosis. ', 'Current literature suggests that increased levels of citrullinated proteins are found in several if not all inflammatory diseases. ', 'Antibodies direc... | ['Yes, protein citrullination been implicated in rheumatoid arthritis.'] | ['yes'] |
Do patients with Pendred syndrome present congenital deafness? | ['Pendred Syndrome can be characterized by the triad composed of familial goitre, abnormal perchlorate discharge and congenital deafness.', 'Pendred syndrome is an autosomal recessive disorder characterized by congenital deafness and goiter. ', 'Pendred syndrome comprises congenital sensorineural hearing loss, thyroid ... | ['Congenital deafness is one of the characteristics of Pendred syndrome patients.'] | ['yes'] |
Are there transposon-free regions in mammalian genomes? | ['Transposon-free regions in mammalian genomes.', 'Despite the presence of over 3 million transposons separated on average by approximately 500 bp, the human and mouse genomes each contain almost 1000 transposon-free regions (TFRs) over 10 kb in length. The majority of human TFRs correlate with orthologous TFRs in the ... | ['Yes. Despite the presence of over 3 million transposons separated on average by approximately 500 bp, the human and mouse genomes each contain almost 1000 transposon-free regions (TFRs) over 10 kb in length. The majority of human TFRs correlate with orthologous TFRs in the mouse, despite the fact that most transposon... | ['yes'] |
How do autoantibodies affect ion channels in LES and SCLC? | ['["The autoantibodies implicated in the Lambert-Eaton myasthenic syndrome (LES), which are known to inhibit ICa and INa in bovine adrenal chromaffin cells, also significantly inhibited INa in SCLC cells.", "These results indicate that (i) action potentials in human SCLC cells result from the regenerative increase in v... | The autoantibodies implicated in the Lambert-Eaton myasthenic syndrome (LES) inhibit ICa and INa in bovine adrenal chromaffin cells and significantly inhibit INa in SCLC cells. | [] |
Is Titin the largest single protein molecule found in Nature? | ['Titin, the largest protein in the human body, is well known as a molecular spring in muscle cells and scaffold protein aiding myofibrillar assembly.', 'Titin is the largest protein in mammals; it forms an elastic filament along the myofibril of cardiac and skeletal muscles.', 'Titin is recently known as the largest p... | ['Titin, is definitely the largest protein in the body, with a molecular weight of 3 million Dalton and composed of 27,000 amino acids. Titin is the largest protein known to date and acts as a mechanosensor that regulates muscle protein expression in a sarcomere strain-dependent fashion.', 'Yes. Titin, the largest prot... | ['yes'] |
Does thyroid hormone affect cardiac remodeling ? | ['Thyroid hormones exert important effects on heart remodeling through mir-208.', 'RV and RA function and mechanics are significantly affected by SHT. l-T4 therapy and 1-year maintenance of euthyroid status improved but did not completely recover RV and RA function and deformation in the SHT patients, which implies tha... | ['Cardiac function and mechanics are significantly affected by low thyroid function. l-T4 therapy improves but does not completely recover cardiac function in patients with mild hypothyroidism.\nLong-term T4 treatment after myocardial infarction has beneficial effects on myocyte, arteriolar, and collagen matrix remodel... | ['yes'] |
Which tumor suppressor is referred to as "the guardian of the genome"? | ['The major tumour suppressor protein, p53, is one of the most well-studied proteins in cell biology. Often referred to as the Guardian of the Genome, the list of known functions of p53 include regulatory roles in cell cycle arrest, apoptosis, angiogenesis, DNA repair and cell senescence.', "p53-Based cyclotherapy: exp... | ['The major tumour suppressor protein, p53, is one of the most well-studied proteins in cell biology. It plays a crucial role in regulating the transcription of numerous genes responsible for cells cycle arrest, DNA repair, angiogenesis, cell senescence, or apoptosis in response to various stress signals, and is consid... | ['p53'] |
Which diseases have been associated with the PTPN22 620W allele? | ['The frequency of the minor allele (620W) was significantly higher in GPA patients than in controls [P\u2009=\u20090.005, χ(2\u2009)=\u20097.858, odds ratio (OR)\u2009=\u20091.91], while no statistically significant association was found with MPA or CSS. Among GPA patients, the 620W allele was particularly enriched in... | ["The functional polymorphism 620W in the intracellular tyrosine phosphatase PTPN22 gene has been shown to confer susceptibility to the development of type 1 diabetes, seropositive rheumatoid arthritis, systemic lupus erythematosus, Hashimoto thyroiditis, and Wegener's granulomatosis (granulomatosis with polyangiitis).... | ['type 1 diabetes', 'seropositive rheumatoid arthritis', 'systemic lupus erythematosus', 'Hashimoto thyroiditis', "Wegener's granulomatosis (granulomatosis with polyangiitis)"] |
What is the use of MammaPrint and Oncotype DX? | ['Molecular tests such as the 21 gene expression test (Oncotype DX(TM)) and 70 gene microarray test (MammaPrint(®)) have revolutionized the predictive and prognostic tools in the clinic. By stratifying the risk of recurrence for patients, the tests are able to provide clinicians with more information on the treatment o... | ['The MammaPrint and Oncotype DX assays are used to predict breast cancer recurrence risk and guide adjuvant chemotherapy decisions.'] | [] |
How are CpG island shores defined? | ["Here we show that most methylation alterations in colon cancer occur not in promoters, and also not in CpG islands, but in sequences up to 2 kb distant, which we term 'CpG island shores'. ", ' Here, we find substantial hypermethylation and hypomethylation of cytosine-phosphate-guanine (CpG) island shores in nine huma... | ['CpG island "shores" are defined as genomic regions up to 2kb distant to known CpG islands. Differential DNA methylation correlates with gene expression more strongly at CpG island shores than CpG islands.'] | [] |
Which phenomenon is known as the "calcium paradox" in the isolated perfused heart? | ['"Calcium paradox" as a term describes the deleterious effects conferred to a heart perfused with a calcium-free solution followed by repletion, including loss of mechanical activity and sarcomere disruption.', 'Calcium paradox was found to markedly activate members of the MAPKs (p43-ERK, JNKs, p38-MAPK). ', 'To our k... | ['"Calcium paradox" as a term describes the deleterious effects conferred to a heart perfused with a calcium-free solution followed by repletion, including loss of mechanical activity and sarcomere disruption.Isolated perfusion of the heart with a Ca2+-free perfusate followed by a Ca2+-containing perfusate causes drama... | [] |
List medication interfering with purine metabolism that are used for treatment of T-cell prolymphocytic leukemia? | ['Treatment with purine analogues and alemtuzumab has resulted in significantly higher response rates and improved survival. ', ' Treatment with purine analogs and the monoclonal antibody alemtuzumab has resulted in significantly higher response rates and increased survival.', 'Nelarabine is an effective regimen agains... | ['Deoxycoformycin and pentostatin are purine analogs that interfere with purine metabolism and are used for treatment of T-cell prolymphocytic leukemia patients.'] | ['deoxycoformycin', 'pentostatin', 'nelarabine'] |
What is the function of the Mis18 protein? | ['Mis16 and Mis18 are required for CENP-A loading and histone deacetylation at centromeres', 'Here we report identification of five fission yeast centromere proteins, Mis14-18. Mis14 is recruited to kinetochores independently of CENP-A, and, conversely, CENP-A does not require Mis14 to associate with centromeres.', 'In... | ["Kinetochores assemble on a specialized chromosomal locus termed the centromere, which is characterized by the replacement of histone H3 in centromeric nucleosomes with the essential histone H3 variant CENP-A (centromere protein A). The Mis18 complex has been identified as a critical factor for the centromeric localiz... | [] |
Which is the enzymatic activity of OTULIN? | ['deubiquitinase OTULIN', 'OTULIN (FAM105B), encoding a deubiquitinase ', ' Otulin/Gumby/FAM105b are by far the most active DUBs acting on these precursors.', 'Removal of ubiquitin chains is mediated by deubiquitinases (DUBs). Two of them, OTULIN and CYLD, ', ' are disassembled by the linear ubiquitin-specific deubiqui... | ['OTULIN is a deubiquitinase, that specifically cleaves Met1-linked polyUb.'] | ['deubiquitination'] |
What are some of the effects of Zika Virus in infected individuals? | ['Maternal-fetal transmission of Zika virus has been documented; evidence suggests that congenital Zika virus infection is associated with microcephaly and other adverse pregnancy and infant outcomes', 'Recent studies have reported an increase in the number of fetuses and neonates with microcephaly whose mothers were i... | ['While most of the symptoms of zika virus are relatively mild, zika virus in pregnant mothers can cause microcephaly and other congenital defects in the fetus.'] | [] |
Aleglitazar is agonist of which receptor? | ['Effects of the dual peroxisome proliferator-activated receptor activator aleglitazar in patients with Type 2 Diabetes mellitus or prediabetes.', 'Aleglitazar is a dual peroxisome proliferator-activated receptor α/γ agonist with favorable insulin-sensitizing and glucose-lowering actions, favorable effects on blood lip... | ['Aleglitazar is a balanced peroxisome proliferator-activated receptor-α/γ agonist.'] | ['peroxisome proliferator-activated receptor-α/γ'] |
Which genes have been found to be associated with restless leg syndrome | ['We describe a unique case of a 23-yr-old female patient affected by a homozygous loss of function mutation in the L-ferritin gene, idiopathic generalized seizures, and atypical restless leg syndrome (RLS). ', 'The genotypes of five specific single-nucleotide polymorphisms (SNPs) in three genes that have been previous... | ['Human L-Ferritin\nThe genotypes of five specific single-nucleotide polymorphisms (SNPs) in three genes\nHomozygosity for the T-allele of BTBD9 rs9296249\nMEIS1\nIntragenic guanosine triphosphate cyclohydrolase-1 duplication\nLRRK2 gene mutation'] | ['LRRK2 gene mutation', 'Human L-Ferritin', 'The genotypes of five specific single-nucleotide polymorphisms (SNPs) in three genes', 'Homozygosity for the T-allele of BTBD9 rs9296249', 'MEIS1', 'Intragenic guanosine triphosphate cyclohydrolase-1 duplication'] |
Which is the genetic basis of Spinal Muscular Atrophy (SMA)? | ['Mutations in TRPV4, encoding a cation channel, have recently been identified in one large dominant congenital spinal muscular atrophy kindred, but the genetic basis of dominant congenital spinal muscular atrophy in many families remains unknown.', 'We report clinical, electrophysiology, muscle magnetic resonance imag... | ['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 muscul... | ['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)'] |
what is the role of MEF-2 in cardiomyocyte differentiation? | ['The growth and differentiation factor bone morphogenetic protein-2 (BMP-2) regulates cardiac development during vertebrate embryogenesis. In cardiac precursor cells, BMP-2 has recently been shown to induce expression of cardiac transcription factors, including myocyte enhancer factor 2A (MEF-2A).', 'BMP-2 increased P... | ['The myocyte enhancer factor-2 (MEF2) proteins are MADS-box transcription factors that are essential for differentiation of all muscle lineages but their mechanisms of action remain largely undefined. MEF2C expression initiates cardiomyogenesis, resulting in the up-regulation of Brachyury T, bone morphogenetic protein... | [] |
Are there web based self management strategies for chronic pain ? | ['Fibromyalgia Symptom Reduction by Online Behavioral Self-monitoring, ', 'This study aimed to evaluate effects of a web-based, self-monitoring and symptom management system (SMARTLog) that analyzes personal self-monitoring data and delivers data-based feedback over time.', 'Moderate use (3 times weekly x 3 months) inc... | ['Results suggest the potential value of self-management for chronic pain patients and the potential acceptability of web-based delivery of intervention content. ', 'Yes, there are successful web based self management strategies for chronic pain.'] | ['yes'] |
Mention the only available genomics and developmental transcriptomics resource for the urochordate Oikopleura dioica | ['OikoBase: a genomics and developmental transcriptomics resource for the urochordate Oikopleura dioica.', 'We report the development of OikoBase (http://oikoarrays.biology.uiowa.edu/Oiko/), a tiling array-based genome browser resource for Oikopleura dioica, a metazoan belonging to the urochordates, the closest extant ... | ['OikoBase (http://oikoarrays.biology.uiowa.edu/Oiko/) is a tiling array-based genome browser resource for Oikopleura dioica, a metazoan belonging to the urochordates, the closest extant group to vertebrates. OikoBase facilitates retrieval and mining of a variety of useful genomics information and will provide a valuab... | ['OikoBase'] |
Is ospemifene effective for treatment of dyspareunia? | ['Ospemifene, a novel selective estrogen receptor modulator, has been developed for the treatment of vulvovaginal atrophy and dyspareunia in postmenopausal women. ', 'For the comparison of short-term ospemifene with placebo, parabasal cells (the standardized mean difference [SMD]\u2009=\u2009-37.5, 95% confidence inter... | ['Yes, ospamifene is effective for treatment of dyspareunia. Ospemifene is a selective estrogen receptor modulator, or estrogen receptor agonist/antagonist, that was recently approved by the US Food and Drug Administration for the treatment of dyspareunia associated with vulvar and vaginal atrophy, a chronic condition ... | ['yes'] |
Which server is used for simulation of macromolecular diffusional association? | ['webSDA: a web server to simulate macromolecular diffusional association.', 'Macromolecular interactions play a crucial role in biological systems. Simulation of diffusional association (SDA) is a software for carrying out Brownian dynamics simulations that can be used to study the interactions between two or more bio... | ['Macromolecular interactions play a crucial role in biological systems. Simulation of diffusional association (SDA) is a software for carrying out Brownian dynamics simulations that can be used to study the interactions between two or more biological macromolecules. webSDA allows users to run Brownian dynamics simulat... | ['webSDA'] |
What are the outcomes of Renal sympathetic denervation? | ['Significant decreases and progressively higher reductions of systolic and diastolic blood pressure were observed after RSD. The complication rate was minimal. ', 'In conclusion, the RSD presents itself as an effective and safe approach to resistant hypertension.', 'Renal sympathetic denervation delivers not only a de... | ['Significant decreases and progressively higher reductions of systolic and diastolic blood pressure were observed after RSD. The complication rate was minimal.\nRenal sympathetic denervation also reduces heart rate, which is a surrogate marker of cardiovascular risk.'] | [] |
Describe what is the usage of the Theatre software tool for genomic analysis. | ['Theatre is a web-based computing system designed for the comparative analysis of genomic sequences, especially with respect to motifs likely to be involved in the regulation of gene expression. Theatre is an interface to commonly used sequence analysis tools and biological sequence databases to determine or predict t... | ['Theatre is a web-based computing system designed for the comparative analysis of genomic sequences, especially with respect to motifs likely to be involved in the regulation of gene expression. Theatre is an interface to commonly used sequence analysis tools and biological sequence databases to determine or predict t... | [] |
What are the symptoms of Rotor syndrome? | ['The mechanistic basis of bilirubin excretion and hyperbilirubinemia syndromes is largely understood, but that of Rotor syndrome, an autosomal recessive disorder characterized by conjugated hyperbilirubinemia, coproporphyrinuria, and near-absent hepatic uptake of anionic diagnostics, has remained enigmatic. ', '[A cas... | ['Rotor syndrome is characterized by conjugated hyperbilirubinemia, coproporphyrinuria, and near-absent hepatic uptake of anionic diagnostics.'] | ['conjugated hyperbilirubinemia', 'coproporphyrinuria', 'near-absent hepatic uptake of anionic diagnostics'] |
Have germline variants been associated to colorectal cancer? | ['Overall, we identified aberrant transcripts in 8% of the patients (familial cases 30%; early-onset manifestation 21%). In eight of them, two different out-of-frame pseudoexons were found consisting of a 167-bp insertion from intron 4 in five families with a shared founder haplotype and a 83-bp insertion from intron 1... | ['Yes. Whole-genome sequencing (WGS) applied to medical research has revealed how germline variants and mutations may be associated with colorectal cancer. It is likely that this level of knowledge can be translated into predictions of predisposition.'] | ['yes'] |
Have Quantitative Trait Loci affecting splicing (splicing QTLs) been linked to disease? | [] | ['Yes, mutations in the DNA that affect the splicing pattern of genes have been linked in transcriptome population studies to a number of diseases.'] | ['yes'] |
List the human acrocentric chromosomes that are involved in Robertsonian translocation. | ['Sperm segregation analysis of a (13;22) Robertsonian translocation carrier by FISH: a comparison of locus-specific probe and whole chromosome painting.', 'The t(13;22) Robertsonian translocation constitutes a rare form of rearrangement between acrocentric human chromosomes. Most of the meiotic segregation studies of ... | ['Robertsonian translocations (ROBs) are the most common chromosomal rearrangements in humans. ROBs are whole-arm rearrangements between the acrocentric chromosomes 13, 14, 15, 21, and 22.'] | ['13', '14', '15', '21', '22'] |
Which is the substrate of the haspin kinase during mitosis? | ['aspin phosphorylates histone H3 at Thr3 (H3T3ph) during mitosis', 'protein kinase Haspin-mediated spreading of H3T3ph ', 'Haspin localizes predominantly to chromosomes and phosphorylates histone H3 at threonine-3 during mitosis', 'haspin/Gsg2 plays an important role in mitosis, where it specifically phosphorylates Th... | ['Haspin phosphorylates histone H3 at Thr3 (H3T3ph) during mitosis'] | ['Histone 3 at Thr3'] |
What is the mechanism of action of Nalmefene? | ['Opioids that stimulate the μ-opioid receptor (MOR1) are the most frequently prescribed and effective analgesics. Here we present a structural model of MOR1. Molecular dynamics simulations show a ligand-dependent increase in the conformational flexibility of the third intracellular loop that couples with the G protein... | ['Nalmefene shows opioid receptor antagonism, binds the μ-opioid receptor (MOR1) and modulates opioidergic transmission in the CNS.'] | [] |
Is desmin an intermediate filament protein involved in Dilated Cardiomyopathy (DCM)? | ['Desmin-related myofibrillar myopathy (DRM) is a cardiac and skeletal muscle disease caused by mutations in the desmin (DES) gene. Mutations in the central 2B domain of DES cause skeletal muscle disease that typically precedes cardiac involvement. However, the prevalence of DES mutations in dilated cardiomyopathy (DCM... | ['According to the predominant view, desmin mutations cause dilated cardiomyopathy (DCM). Mice deficient in desmin, the muscle-specific member of the intermediate filament gene family, display defects in all muscle types and particularly in the myocardium. Desmin null hearts develop cardiomyocyte hypertrophy and dilate... | ['yes'] |
Is there any role of TBR1 in autism? | ['TBR1 regulates autism risk genes in the developing neocortex', 'Exome sequencing studies have identified multiple genes harboring de novo loss-of-function (LoF) variants in individuals with autism spectrum disorders (ASD), including TBR1, a master regulator of cortical development. We performed ChIP-seq for TBR1 duri... | ['Yes. Exome sequencing studies have identified multiple genes harboring de novo loss-of-function (LoF) variants in individuals with autism spectrum disorders (ASD), including T-Brain-1 (TBR1), a master regulator of cortical development. T-brain-1 (TBR1) is a brain-specific T-box transcription factor. In 1995, Tbr1 was... | ['yes'] |
Which are the causes of the Koebner phenomenon? | ['Lichen sclerosus has been reported at sites of injury as a Koebner phenomenon. ', 'Therefore, lower expression of keratinocyte-derived factors, including SCF, in vitiliginous keratinocytes, which could result from keratinocyte apoptosis, might be responsible for passive melanocyte death and may explain the Koebner ph... | ['The causes of the Koebner phenomenon are:\n1) Lichen sclerosus\n2) Vitiligo\n3) Psoriasis and \n4) Physical stress.'] | ['Lichen sclerosus', 'Vitiligo', 'Psoriasis', 'Physical stress', 'Lichen planus'] |
Which DNA repair system is involved in HNPCC? | ["The HNPCC syndrome (hereditary non polyposis colon cancer) or Lynch syndrome stands for an autosomic dominant condition leading to the most prevalent hereditary colo-rectal cancers (CCR). MMR (mismatch repair)'s genes are involved in carcinogenesis as they play a role in ADNA mismatch repair.", 'Mutations in the gene... | ['In HNPCC families, germline mutations in any of four genes encoding proteins of a specialized DNA repair system, the mismatch repair, predispose to cancer development.'] | ['In HNPCC, the mismatch DNA repair system is involved.'] |
Which gene(s) should be genotyped in order to prescribe the drug Cetuximab (anti-EGFR)? | ['Treatment of metastatic colorectal cancer with targeted anti-EGFR therapeutics such as cetuximab extends survival in only 25% of patients who test wild-type for KRAS, while the majority of patients prove resistant (J Clin Oncol 28(7):1254-1261, 2010).', '. Somatic mutation of the EGFR signalling pathway is a prevalen... | ['KRAS mutation has been unambiguously identified as a marker of resistance to cetuximab-based treatment in metastatic colorectal cancer (mCRC) patients.\nOther genes are such as EGFR, BRAF and T53 have also been suggested to be genotyped in order to evaluate the drug responsivness.'] | ['KRAS', 'EGFR', 'BRAF', 'T53'] |
Which hormone abnormalities are common in Williams syndrome | ['A girl with Williams syndrome (WS) presented with elevated thyrotropin (TSH) levels (7.0 microU/ml), normal free thyroid hormone concentrations, and absent antithyroid autoantibodies.', 'TSH response to thyrotropin-releasing hormone (TRH) injection (200 microg/mq, i.v.) was exaggerated and prolonged, suggesting subcl... | ['Elevated Thyrotropin - TSH\nLow FT4\nGrowth Hormone deficiency\nCalcitonin deficiency\nElevated Prolactin\nElevated Cortisol\nElevated Oxytocin\nElevated Vasopressin'] | ['Elevated Thyrotropin -', 'Elevated TSH', 'Low FT4', 'Low Thyroxine', 'Growth Hormone deficiency', 'GHD', 'Calcitonin deficiency', 'Elevated Prolactin', 'Elevated Cortisol', 'Elevated Oxytocin', 'Elevated OT', 'Elevated Vasopressin', 'Elevated AVP'] |
Which are the most frequent syndromes associated with inherited bone marrow failure? | ['Ocular and orbital manifestations of the inherited bone marrow failure syndromes: Fanconi anemia and dyskeratosis congenita', 'The inherited bone marrow failure syndromes (IBMFS) are a heterogeneous group of genetic disorders that share the inability of the bone marrow to produce an adequate number of blood cells. Th... | ['The inherited bone marrow failure syndromes (IBMFS) are a heterogeneous group of genetic disorders that share the inability of the bone marrow to produce an adequate number of blood cells. The 4 most frequent syndromes are Fanconi anemia (FA), dyskeratosis congenita (DC), Diamond-Blackfan anemia (DBA), and Shwachman-... | ['Fanconi anemia', 'Dyskeratosis congenita', 'Diamond-Blackfan anemia', 'Shwachman-Diamond syndrome'] |
Is nucleosome eviction ATP-dependent? | ["ATP-dependent chromatin remodeling and nucleosome-depleted 'barriers' co-operate to determine the kinetics of nucleosome organization", 'ATP-dependent nucleosome-remodeling factors endow chromatin with structural flexibility by promoting assembly or disruption of nucleosomes and the exchange of histone variants.', 'r... | ['Yes, nucleosome eviction and chromatin remodelling depends on ATP'] | ['yes'] |
Mutation of which gene and which chromosome cause Neurofibromatosis type I? | ['The von Recklinghausen neurofibromatosis (NF1) gene has been localized to the pericentromeric region of chromosome 17.', 'Nine markers from the pericentromeric region of chromosome 17 were typed in 16 British and five South African families with neurofibromatosis type 1 (NF1).', 'Inspection of recombinant events in f... | ['Neurofibromatosis Type I is an autosomal dominant condition associated with NF-1 gene mutation that is located in the long arm of chromosome 17 (17q11.2). In the majority (95%) of Neurofibromatosis Type I individuals, the mutation is found in the NF1 gene, while the remaining 5% of the patients have different types o... | ['NF1 gene', 'chromosome 17'] |
What role do Kupffer cells play in innate immunity and inflammation? | ['["Kupffer cells (KCs) play a role in the development of drug induced liver injury (DILI).", "Hepatic macrophages consist of Kupffer cells, which are originated from the fetal yolk-sack, and infiltrated bone marrow-derived monocytes/macrophages. ", "Kupffer cells (KCs) are the main source of MMP.", "liver, both Kupffe... | Kupffer cells are able to release a tremendous array of mediators upon inflammatory conditions, such as infection, and their role in innate immunity is well described in the literature. | [] |
Is there an association between Muenke Syndrome and FGFR3 gene mutation? | ['RESULTS: Forty-four with a positive FGFR3 mutation, median age 9 years, range 7 months to 52 years were enrolled. In addition, 10 unaffected siblings served as controls (5 males, 5 females; median age, 13 years; range, 3-18 years).', 'Muenke is a fibroblast growth factor receptor 3 (FGFR-3)-associated syndrome, which... | ['Yes, Muenke syndrome is caused by point mutation (C749G) in the Fibroblast Growth Factor Receptor3 (FGFR3) gene. It affects 1 in 30,000 newborns and accounts for 25% to 30% of genetic causes of craniosynostosis.'] | ['yes'] |
Is factor XI deficient in Hemophilia C? | ['Factor XI deficiency is a rare hematologic disorder. Hemophilia C (factor XI deficiency) affects both genders and it is usually asymptomatic,', 'Congenital factor XI deficiency (also known as the Rosenthal syndrome or hemophilia C)', 'rare case of an acute cerebral aneurysm rupture in a patient with a known factor XI... | ['Factor XI deficiency is associated with a bleeding tendency called Hemophilia C.'] | ['yes'] |
Which mutations of SCN5A gene are implicated in Brugada syndrome? | ['This was the first study to systematically investigate sodium channel variants in Chinese patients with ARVD; a new SCN5A mutation, I137M, was found. ', 'We describe a family showing the association between Brugada syndrome and epilepsy in which a known mutation in the SCN5A gene (p.W1095X, c.3284G>A) was identified.... | ['The following mutations of SCN5A gene have been linked to Brugada syndrome:I137M, p.W1095X; c.3284G>A, R27H, E901K, G1743R, V728I, N1443S, E1152X, c.664C>T; p.Arg222X, Ala2>Thr, Ala735, Ala735>Thr, Val1340>Ile, IVS18-1G>A, E1784K (14x), F861WfsX90 (11x), D356N (8x), G1408R (7x), G400A, H558R, W822X, Q55X, V95I, A1649... | ['I137M', 'p.W1095X, c.3284G>A', 'R27H', 'E901K', 'G1743R', 'V728I', 'N1443S', 'E1152X', 'c.664C>T; p.Arg222X', 'Ala2>Thr, Ala735', 'Ala735>Thr', 'Val1340>Ile', 'IVS18-1G>A', 'E1784K (14x)', 'F861WfsX90 (11x)', 'D356N (8x)', 'G1408R (7x)', 'G400A', 'H558R', 'W822X', 'Q55X', 'V95I', 'A1649V', 'delF1617', 'c.4810+3_4810+... |
Abnormalities in which chromosomes were linked to the Moyamoya disease? | ['Complex chromosome rearrangement of 6p25.3->p23 and 12q24.32->qter in a child with moyamoya.', 'Routine karyotype demonstrated extra chromosomal material on 6p. Single nucleotide polymorphism microarray revealed a previously unreported complex de novo genetic rearrangement involving subtelomeric segments on chromosom... | ['chromosomes 3, 6, 8, 12, 15, 17, 21, X and Y were implicated in the Moyamoya disease.'] | ['3', '6', '8', '12', '15', '17', '21', 'X', 'Y'] |
Which mushroom is poisonous, Amanita phalloides or Agaricus Bisporus | ["Seventeen edible mushrooms commercially available in Korea were analysed for their umami taste compounds (5'-nucleotides: AMP, GMP, IMP, UMP, XMP; free amino acids: aspartic, glutamic acid) and subjected to human sensory evaluation and electronic tongue measurements. Amanita virgineoides featured the highest total 5'... | ['The well-known cultivated species Agaricus bisporus is safe to eat while Amanita Phalloides is poisonous.'] | ['Amanita phalloides'] |
List mouse models for autism spectrum disorder (ASD). | ['maternal immune activation (MIA) mouse model that is known to display features of ASD.', 'BTBR T+tf/J (BTBR), a model of ASD with cognitive deficits,', 'C58/J mouse strain, a model of ASD core symptoms. ', 'the C58/J mouse model of autism', 'Both C58/J and Grin1 knockdown mice, another model of ASD-like behavior, ', ... | ['Numerous mouse models exists for autism spectrum disorder, such as: BTBR T+tf/J (BTBR), maternal immune, activation (MIA) mouse model of gestational poly(IC) exposure, C58/J and ProSAP1/Shank2.'] | ['maternal immune activation (MIA) mouse model of gestational poly(IC) exposure', 'C58/J', 'Grin1', 'Shank3-deficient mice', 'C57BL/6J', 'SYNGAP1', 'Tsc2f/-', 'MALTT', '(Dp(11)17/+)', 'NR1(neo-/-)', 'TS2-neo mouse', 'Tbx1 heterozygous (HT) mice', 'BTBR T+tf/J (BTBR)', 'VPA600', 'ProSAP1/Shank2'] |
Is TREM2 associated with Alzheimer's disease in humans? | ["Genetic deficits and loss of function for the triggering receptor expressed in myeloid cells 2 (TREM2; encoded at chr6p21.1), a transmembrane spanning stimulatory receptor of the immunoglobulin/lectin-like gene superfamily, have been associated with deficiencies in phagocytosis and the innate immune system in Alzheim... | ["TREM2 variants have been found to be associated with early as well as with late onset Alzheimer's disease."] | ['yes'] |
What is the mechanism of microRNA deregulation in carcinogenesis? | ["MicroRNAs are a class of small non-coding RNAs that negatively regulate gene expression by interacting with the 3'UTR of protein-coding mRNA. MicroRNAs are implicated in nearly all major biological and cellular events, and recent findings further link microRNA deregulation to human carcinogenesis.", 'MiR-657 promotes... | ['MicroRNAs (miRNAs) are endogenous non-protein coding single-stranded RNAs (19–25 nucleotides in length) generated from cleavage of larger non-coding RNAs by the ribonuclease III enzyme Dicer. They become part of the RNA-induced silencing complex and negatively regulate gene expression by binding to homologous 3\'-UT... | [] |
Does administration of triiodothyronine improve outcome following coronary artery bypass grafting? | ['Serum T3 concentrations were significantly higher with fewer patients having T3 concentrations below the normal range in the T3 group than the placebo group throughout the postoperative period. Hemodynamic variables, postoperative inotrope requirement, and outcome variables showed no differences between the groups', ... | ['Perioperative administration of synthetic thyroid hormone therapy have positive hemodynamic effects (consisting of increases cardiac output, lowered systemic vascular resistance) determining improved postoperative ventricular function, reduced the need for treatment with inotropic agents and mechanical devices, in th... | ['no'] |
What is the HSP70-HSP110 disaggregase machinery? | ['Clearance of misfolded and aggregated proteins is central to cell survival.', 'UBQLN2 acts with the HSP70-HSP110 disaggregase machinery to clear protein aggregates via the 26S proteasome. UBQLN2 recognizes client-bound HSP70 and links it to the proteasome to allow for the degradation of aggregated and misfolded prote... | ['Clearance of misfolded and aggregated proteins is central to cell survival. UBQLN2 acts with the HSP70-HSP110 disaggregase machinery to clear protein aggregates via the 26S proteasome. UBQLN2 recognizes client-bound HSP70 and links it to the proteasome to allow for the degradation of aggregated and misfolded proteins... | [] |
What is the inheritance pattern of Hunter disease or mucopolysaccharidosis II? | ['ysosomal diseases (LD) are inherited as autosomal recessive traits, but two important conditions have X-linked inheritance: Fabry disease and Mucopolysaccharidosis II (MPS II).', 'unter disease, Mucopolysaccharidosis type II, is an X-linked recessive lysosomal storage disorder', 'unter syndrome is an X-linked recessi... | ['X- linked recessive'] | ['X- linked recessive'] |
List variants of the MC1R gene. | ['All of the investigated variants showed positive associations with NMSC, with consistent significant results obtained for V60L, D84E, V92M, R151C, R160W, R163Q and D294H: SOR (95%CI) ranged from 1.42 (1.19-1.70) for V60L to 2.66 (1.06-6.65) for D84E variant.', 'The melanocortin 1 receptor (MC1R) gene encodes for a se... | ['V60L\nD84E\nV92M\nR151C\nR160W\nR163Q\nD294H'] | ['V60L', 'D84E', 'V92M', 'R151C', 'R160W', 'R163Q', 'D294H'] |
Which is the major function of sororin? | ['Sororin pre-mRNA splicing is required for proper sister chromatid cohesion in human cells.', 'ororin accumulation during S phase, and are, therefore, essential to the maintenance of genome stability.', 'Defective sister chromatid cohesion is a general consequence of dysfunctional pre-mRNA splicing, resulting from the... | ['Sororin is a positive regulator of sister chromatid cohesion that interacts with the cohesin complex.'] | [] |
Where is the proteasome located? | ['Cellular regulation by UPS- mediated protein degradation is a highly specific and selective process that depends on time (e.g. cell cycle) and location (nucleus, mitochondria or endoplasmic reticulum). ', 'In eukaryotic cells, regulated protein degradation of intracellular proteins is mediated largely by the ubiquiti... | ['The proteasome can be found in perinuclear and nuclear location, as well as in cytosolic compartments, such as mitochondria and endoplasmic reticulum. Proteasome-mediated degradation of cell cycle regulatory proteins, production and loading of antigenic peptides onto HLA molecules, and transient homing of diverse vir... | [] |
What is the mechanism of action of raxibacumab? | [' Raxibacumab, an IgG1 monoclonal antibody, binds the protective antigen (PA) of Bacillus anthracis, thus blocking toxin effects and leading to improved survival in the rabbit and monkey models of inhalational anthrax. ', 'RESULTS: Interesting results were obtained using monoclonal antibodies: raxibacumab, cAb29 or co... | ['Raxibacumab is a recombinant human IgG1 monoclonal antibody that binds the protective antigen of Bacillus anthracis, thus blocking toxin effects.\nIt is approved to treat inhalational anthrax.'] | [] |
Which histone modification is primarily linked to elongating transcription? | ['Similarly, H3K36 trimethylation, a mark associated with transcription elongation, was specifically increased at the HD locus in the striatum and not in the cerebellum.', 'y expressing Myc protein fused with the estrogen receptor (Myc-ER) in fibroblasts, we observed that Myc, binding to the regulatory elements of Suz1... | ['Similarly, H3K36 trimethylation, a mark associated with transcription elongation, was specifically increased at the HD locus in the striatum and not in the cerebellum. Recent studies reviewed here demonstrate that histone deacetylation on the body of a transcribed gene is regulated via Set2-mediated methylation of hi... | ['H3K36me3', 'H3K36 trimethylation'] |
Are there drugs for Tick-borne Encephalitis? | [' tick-borne encephalitis (TBE) have been detected in Bulgaria. Considering the remarkable increase in TBE morbidity in Europe over the past two decades, we conducted a study of TBE among patients with acute viral meningitis who were hospitalised in Bulgaria during 2009 to 2012. ', 'Viruses belonging to the Flavivirid... | ['No drug therapy available today'] | ['No drug therapy available today'] |
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