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157
Which are the main functions of the annexin family?
Annexins are required for membrane organization and membrane transport events required for the establishment/maintenance of epithelial polarity. An association of annexins with ion channels, as membrane-guiding auxiliary proteins or modulators of channel activity. Last but not least, some annexins seem to work as extracellular autocrine modulators of receptor function under different physiological conditions.
4,020
[ 21131363, 15590064, 28440436, 16210453, 29408340, 27318360 ]
List medication interfering with purine metabolism that are used for treatment of T-cell prolymphocytic leukemia?
Deoxycoformycin and pentostatin are purine analogs that interfere with purine metabolism and are used for treatment of T-cell prolymphocytic leukemia patients.
389
[ 22538464, 15869731, 19778847, 12447847, 18039954, 22483155, 8468724, 19915381, 23512246, 18309944, 19275513, 15039804, 9215839 ]
What is the mode of inheritance of long QT Jervell and Lange-Nielsen syndrome?
Jervell and Lange-Nielsen long QT syndrome (JLNS) is characterized by autosomal recessive mode of inheritance
1,647
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Is there an association between carcinoid syndrome and mitral valve disease?
Yes, mitral valve damage was reported in patients with carcinoid syndrome.
2,310
[ 261962, 7236050, 22364692, 26564596, 7453210, 11568027, 8131775 ]
How many genes constitute the DosR regulon, controlled by the dormancy survival regulator (DosR) in Mycobacterium tuberculosis?
The Mycobacterium dormancy survival regulator (DosR) regulon is composed of 48 co-regulated genes.
2,273
[ 17502400, 22833514, 19553548, 21653552, 18294384, 23651670, 22759512 ]
Describe what is athelia syndrome?
Athelia is a very rare entity that is defined by the absence of the nipple-areola complex.
1,803
[ 24872738, 15950955, 24781087 ]
Which is the chromosomal location of the gene MAOA?
The MAOA gene is locatad on chromosome X (Xp21-p11).
1,172
[ 2906043 ]
Is avanafil indicated for treatment of erectile dysfunction?
Yes, avanafil is indicated for treatment of erectile dysfunction.
1,913
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Which is the most well-accepted method for Down syndrome non-invasive prenatal diagnosis?
Currently, two applications for NIPD of Down syndrome have been developed with potential and have displayed positive results; the NIPD using next-generation sequencing technologies and the NIPD using the methylated DNA immunoprecipitation (MeDIP) real-time quantitative polymerase chain reaction (qPCR). This study examined the methylation difference in AIRE and RASSF1A between maternal and placental DNA, and the implication of this difference in the identification of free fetal DNA in maternal plasma and in prenatal diagnosis of trisomy 21. Diagnosis of trisomy 21 was established according to the ratio of fetal-specific AIRE to RASSF1A in maternal plasma. Both methods confirmed that AIRE and RASSF1A were hypomethylated in maternal blood cells but hypermethylated in placental or chorionic villus tissues. It was concluded that hypermethylated AIRE and RASSF1A may serve as fetal-specific markers for the identification of fetal DNA in maternal plasma and may be used for noninvasive prenatal diagnosis of trisomy 21.
796
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What is the ChIP-exo method used for?
Precise Identification of DNA-Binding Proteins Genomic Location by Exonuclease Coupled Chromatin Immunoprecipitation (ChIP-exo).
2,650
[ 28060339, 23026909, 26404150 ]
What are the signatures of aggressive periodontitis?
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.
1,583
[ 18980520, 15154918 ]
Is collagen the most abundant human protein?
Yes, collagen is the most abundant protein family in mammals.
2,881
[ 28929384, 29146366, 29144022 ]
What disease is small bowel lymphoma commonly associated with
Small bowel lymphoma is commonly associated with celiac disease.
1,558
[ 2754219, 18212211, 12002682, 10912475, 21532863 ]
What happens to H2AX upon DNA bouble strand breaks?
Phosphorylated H2AX (γH2AX) is rapidly concentrated in chromatin domains around DNA double-strand breaks (DSBs) after the action of ionizing radiation or chemical agents and at stalled replication forks during replication stress The nuclear foci of phosphorylated histone H2AX (γH2AX) are frequently used as a marker for DNA double-strand breaks (DSBs) following ionizing radiation (IR)
2,091
[ 22704343, 24682951, 27158526, 21511815 ]
Do only changes in coding regions of MEF2C cause developmental disorders?
No. Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms.
4,540
[ 34022131 ]
What is a SMR based BCI?
Many Brain Computer Interface (BCI) and neurofeedback studies have investigated the impact of sensorimotor rhythm (SMR)
3,225
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Can the iPS cell technology be used in Fanconi anemia therapy?
iPS cell technology can be used for the generation of disease-corrected, patient-specific cells with potential value for cell therapy applications in Fanconi anemia.
1,581
[ 19483674, 20224565 ]
Which histone modifications are associated with Polycomb group (PcG) proteins?
A member of the polycomb repressive complex 2 (PRC2) directly mediates the addition of K27me3 to histone H3, a modification associated with heterochromatin, and it is believed that this activity mediates transcriptional repression. At the same time PRC2 activity results in a global increase in H3K27 acetylation. Some members of the PcG display affinity towards both histone H3 trimethylated at K9 and H3K27me3, and one CD prefers K9me3.
266
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Which molecules are inhibited by anticancer drug Dovitinib?
Dovitinib (TKI-258/CHIR-258) is a pan receptor tyrosine kinase (RTK) inhibitor that targets VEGFR, FGFR, PDGFR, and KIT. It is being widely tested for treatment of various cancers.
2,567
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Which disease is caused by mutations in the gene CALR?
Somatic mutations of calreticulin (CALR) have been identified as a main disease driver of myeloproliferative neoplasms,
4,420
[ 33202112, 33202418, 34804436, 32733014, 32694616, 34571965 ]
Summarize the cause of autosomal dominant Spinocerebellar Ataxia type 3.
Spinocerebellar ataxia type 3/Machado-Joseph disease (SCA3/MJD) is a progressive autosomal dominant neurodegenerative disease caused by abnormal CAG repeats in the exon 10 of ATXN3.
4,247
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Has Cas9 gene editing the potential to correct inhereted hearing loss?
CRISPR/Cas9-mediated genome editing can be efficiently performed in the mammalian inner ear in vivo. The genetic correction of induced pluripotent stem cells (iPSCs) induced from somatic cells of patients with sensorineural hearing loss (caused by hereditary factors) is a promising method for its treatment. The correction of gene mutations in iPSCs could restore the normal function of cells and provide a rich source of cells for transplantation.
2,325
[ 25987504, 26915297, 27013738, 26876963 ]
Which receptors are targeted by a drug Macitentan?
Endothelin receptor A and endothelin receptor B are targeted by a drug Macitentan. Macitentan is a potent, orally active, non-peptide dual antagonist of endothelin receptors A and B that is approved for the treatment of pulmonary arterial hypertension.
1,189
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Which is the enzymatic activity of nardilysin?
Nardilysin (N-arginine dibasic convertase; Nrdc) is a metalloendopeptidase of the M16 family that promotes ectodomain shedding of the precursor forms of various growth factors and cytokines by enhancing the protease activities of a disintegrin and metalloproteinase (ADAM) proteins.
2,653
[ 27385158, 28230087 ]
Describe the genetic determinants of common epilepsies
Genetic determinants of common epilepsies are defined as the interaction of mutations in one of two unlinked genes, SCN1 and SCN2, which code for the proteins hamartin and epilepticin, respectively. Disruption of these genes has been found to be associated with epileptic encephalopathies, but it is not entirely clear if this translates directly to the increased risk for epilepsy or via epigenetic changes.
4,000
[ 25087078 ]
Galassi classification is used for which disorder?
Galassi classification system is used to classify arachnoid cysts.
1,251
[ 23696293, 16096939, 10663819, 18704305, 12218836, 12922037, 14676729 ]
List BRAF inhibitors that have been tested in clinical trials for treatment of melanoma patients
Vemurafenib and dabrafenib are BRAF inhibitors that have been tested in clinical trials for treatment of melanoma patients.
1,289
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Is cathepsin L active in endosomes?
yes, Cathepsin L is found in the Late Endosome/Lysosome.
3,408
[ 22238299, 26343556, 27733646, 26953343 ]
Is microRNA(miRNA) 30 involved in post-ischemic cardiac remodeling?
Myocardial remodeling after an ischemic insult involves extracellular matrix proteins with increased fibrosis Initial experimental data indicate that miRNA 30 decreases CTGF a key molecule in the process of fibrosis, by directly downregulating the production of CTGF
607
[ 22352753, 21434842, 22038740, 19096030 ]
What are Degrons?
Specific signals (degrons) regulate protein turnover mediated by the ubiquitin-proteasome system.
2,022
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List drugs that were tested in the CheckMate 214 trial.
CheckMate 214 clinical trial compared Nivolumab plus Ipilimumab versus Sunitinib in Advanced Renal-Cell Carcinoma.
2,961
[ 29562145, 30332546, 29728867, 29468108, 29223605, 30187355, 29587324 ]
What is the main use of ETD fragmentation?
Electron-based fragmentation methods have revolutionized biomolecular mass spectrometry, in particular native and top-down protein analysis.
4,375
[ 34788003, 33068214, 32070774, 31999103 ]
Does Vitamin D induce autophagy?
Yes, vitamin D induces autophagy.
1,800
[ 27174720, 27430408, 26562100, 27915989 ]
Which clotting factor is in the Andexxa?
Andexxa(r) is a first-in-class recombinant modified factor Xa protein. It is available to reverse life-threatening or uncontrolled bleeding with the factor Xa inhibitors apixaban and rivaroxaban.
3,305
[ 29926311, 30053385, 30013295, 30459509, 30362966 ]
What is Aortitis?
Aortitis is the inflammation of the aorta due to various causes, such as the manifestation of an underlying infectious or noninfectious disease process.
3,893
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What happens to the expression levels of piRNAs in the case of intracranial aneurysm rupture?
piRNAs showed a substantial decrease in RNA abundance that was sustained after IA rupture.
4,440
[ 32424559 ]
Are alterations in ultraconserved elements implicated in breast cancer?
Yes. SNPs in ultraconserved elements (UCEs) might be associated with cancer risk.
1,880
[ 18174240, 21331621 ]
Is the HRC Ser96Ala variant associated with sudden cardiac death in patients with dilated cardiomyopathy?
A human genetic variant (Ser96Ala) in the sarcoplasmic reticulum (SR) histidine-rich Ca(2+)-binding (HRC) protein has been linked to ventricular arrhythmia and sudden death in dilated cardiomyopathy.The histidine-rich calcium binding protein (HRC) Ser96Ala polymorphism was shown to correlate with ventricular arrhythmias and sudden death only in dilated cardiomyopathy patients but not in healthy human carriers.
1,466
[ 18617481, 24805197, 21742996, 20807542, 24125847 ]
What is Bartter syndrome?
All forms of Bartter syndrome are characterized by hypokalemia, metabolic alkalosis, and secondary hyperaldosteronism
1,882
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Which is the most common cause of sudden cardiac death in young athletes?
the most common cause of sudden cardiac death in young athletes is hypertrophic cardiomyopathy
346
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What is the mechanism of action of donanemab?
Donanemab is a new monoclonal antibody that uniquely targets Aβ(p3-42), a pyroglutamate form of Amyloid-β (Aβ) exclusively found in plaques.
4,265
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Is eculizumab used for treatment of myasthenia gravis?
Yes, eculizumab is used for treatment of myasthenia gravis.
3,090
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What can be predicted with the Wells criteria?
Wells criteria are used to determine clinical probability of pulmonary embolism.
2,632
[ 27689922, 15520710, 28970024, 26559176, 25763885, 28969751, 28236025 ]
What does MVA85A stand for?
MVA85A is the Modified Vaccinia virus Ankara expressing Antigen 85A.
3,338
[ 22789508 ]
List characteristics of Developmental and Epileptic Encephalopathies (DEEs).
yes, developmental and epileptic encephalopathies (dees) are a group of severe, early onset epilepsies characterized by refractory seizures, developmental delay or regression associated with ongoing epileptic activity, and generally poor prognosis.
4,133
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How many of the human PML isoforms are cytosolic?
Using a system in which only a single EYFP-linked PML isoform is expressed, we demonstrate that PMLI, PMLII and PMLVI accumulate in the cytoplasm following arsenic treatment, whereas PMLIII, PMLIV and PMLV do not the PML isoforms that are most sensitive to virus infection correspond closely to those which have recently been identified as being covalently conjugated to PIC1.
2,311
[ 9658103, 24190887 ]
List the continent of origin for the brown marmorated stinkbug(Halyomorpha halys)
The brown marmorated stinkbug (Halyomorpha halys) is native to Asia
2,611
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What is the function of HP1a in the nucleus?
Heterochromatin protein 1 (HP1) is an abundant component of heterochromatin, a highly condensed compartment of the nucleus that comprises a major fraction of complex genomes.
4,074
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Is there any cross-talk between the Wnt and the Akt pathways?
The Wnt/β-catenin and PI3K/Akt signaling pathways cross-talk mainly through the activity of GSK-3β, a common component of both pathways, but also through the activity of other signaling transducers, such as Cby or WISP-1.
1,236
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What is the main role of Ctf4 in dna replication?
coupling MCM2-7 to replicative polymerases is an important feature of the regulation of chromosome replication in eukaryotes, and highlight a key role for Ctf4 in this processAnd-1/Ctf4 is therefore a new replication initiation factor that brings together the MCM2-7 helicase and the DNA pol alpha-primase complex, analogous to the linker between helicase and primase or helicase and polymerase that is seen in the bacterial replication machinery
633
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What is the effect of enamel matrix derivative on pulp regeneration?
EMD increased the osteogenic potential of hDPCs. The expression levels of osteogenesis-related genes, such as ALP, DSPP, BMP, and OPN were also upregulated. In addition, the expression levels of odontogenesis-related transcription factors Osterix and Runx2 were upregulated. Proliferated pulp tissue partly filled the space initially occupied by EMDgel and isolated masses within the proliferated pulp tissue.
1,496
[ 23880267, 21166828, 12640753, 24279667, 24246686 ]
Is actin present in the nucleus?
Yes, The revitalization of research into nuclear actin occurred after it was found that cellular stresses induce the nuclear localization and alter the structure of actin.
3,162
[ 30193156, 30019087, 30312531, 29925947, 29568381 ]
Are sleep apnea and snoring associated with cardiac arrhythmias?
Evidence supports a causal association of sleep apnea with the incidence and morbidity of hypertension, coronary heart disease, arrhythmia, heart failure, and stroke.
2,587
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Which drugs were included in the polypill that was tested in TIPS-3 trial?
Polypill tested in the TIPS-3 trial was comprised of atenolol, ramipril, hydrochlorothiazide, and a statin.
4,665
[ 30342297 ]
Which histone modification discriminates between active and poised enhancers?
Monomethylation of histone H3 on Lys 4 (H3K4me1) and acetylation of histone H3 on Lys 27 (H3K27ac) are histone modifications that are highly enriched over the body of actively transcribed genes and on enhancers.
774
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List the main salt-inducible kinases.
SIK1 SIK2 SIK3 HDAC4 HDAC5
4,320
[ 34056256, 34350957, 33989615, 33861845, 34196217, 33148508, 33688765 ]
Are Chernobyl survivors at increased risk for breast cancer?
Yes, Chernobyl survivors are at increased risk for breast cancer.
3,695
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Which diseases that can be treated using the focused ultrasound thalamotomy.
Focused ultrasound thalamotomy is used for treatment of Parkinson disease, essential tremor, obsessive-compulsive disorder and chronic neuropathic pain.
1,764
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What is the role of lysine-specific demethylase 1 (LSD1) in hematopoiesis?
LSD1 represents a central regulator of hematopoietic stem and progenitor cells. LSD1 knockdown (LSD1-kd) expanded progenitor numbers by enhancing their proliferative behavior. LSD1-kd led to an extensive expansion of granulomonocytic, erythroid and megakaryocytic progenitors. In contrast, terminal granulopoiesis, erythropoiesis and platelet production were severely inhibited. The only exception was monopoiesis, which was promoted by LSD1 deficiency. Importantly, we showed that peripheral blood granulocytopenia, monocytosis, anemia and thrombocytopenia were reversible after LSD1-kd termination. Extramedullary splenic hematopoiesis contributed to the phenotypic reversion, and progenitor populations remained expanded. LSD1-kd was associated with the upregulation of key hematopoietic genes, including Gfi1b, Hoxa9 and Meis1, which are known regulators of the HSC/progenitor compartment. We also demonstrated that LSD1-kd abrogated Gfi1b-negative autoregulation by crossing LSD1-kd with Gfi1b:GFP mice. There is also epigenetic regulation of hematopoietic differentiation by Gfi-1 and Gfi-1b that is mediated by the cofactors CoREST and LSD1. A short Gfi-1B isoform controls erythroid differentiation by recruiting the LSD1-CoREST complex through the dimethylation of its SNAG domain. The enzymatic domain of LSD1 plays an important role in repressing the TAL1-directed transcription of GAL4 reporter linked to a thymidine kniase minimal promoter. Furthermore, the TAL1-associated LSD1, HDAC1, and their enzymatic activities are coordinately down-regulated during the early phases of erythroid differentiation. Consistent with the rapid changes of TAL1-corepressor complex during differentiation, TAL1 recruits LSD1 to the silenced p4.2 promoter in undifferentiated, but not in differentiated, murine erythroleukemia (MEL) cells. ShRNA-mediated knockdown of LSD1 in MEL cells resulted in derepression of the TAL1 target gene accompanied by increasing dimeH3K4 at the promoter region. Thus, it appears that histone lysine demethylase LSD1 may negatively regulate TAL1-mediated transcription and that the dynamic regulation of TAL1-associated LSD1/HDAC1 complex may determine the onset of erythroid differentiation programs. Furthermore, RUNX1 has been shown to be part of a large transcription factor complex, together with LDB1, GATA1, TAL1, and ETO2 in erythroid cells. RUNX1 interacts with LSD1 and MYEF2 in erythroid cells. MYEF2 is bound in undifferentiated cells and is lost upon differentiation, whereas LSD1 is bound in differentiated cells. Finally, LSD1 also participates in the trans-repressive effects of SALL4. Based on luciferase assays, the amine oxidase domain of LSD1 is important in suppressing SALL4-mediated reporter transcription. In freshly isolated adult mouse bone marrows, both SALL4 and LSD1 proteins are preferentially expressed in undifferentiated progenitor cells and co-localize in the nuclei. Further sequential chromatin immunoprecipitation assay confirmed that these two factors share the same binding sites at the promoter regions of important hematopoietic regulatory genes including EBF1, GATA1, and TNF.
489
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What is the inheritance pattern of Apert syndrome?
The Apert syndrome is a disorder of autosomal dominant inheritance.
1,336
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Are retroviruses used for gene therapy?
Gene therapy is one of the most promising and active fields in therapeutic research. Gene therapy is a treatment option that introduces genetic material in vivo or ex vivo into the cells of an affected organism in order to: exchange a defective gene; manipulate a disease-related gene; or introduce an additional gene copy for overexpression of the encoded protein to generate a curative biological effect. Somatic gene therapy is gene transfer by a specific vector to a somatic cell; in contrast to germline gene therapy, the modification of the cell is restricted to the recipient and cannot be passed to her/his progeny. High efficiency of gene transfer, high specificity for the target cells, long-lasting expression of the transgene and safety without adverse reactions are the desired characteristics of an ideal vector for gene transfer. Retroviral (gretroviral and lentiviral) vectors have now been used in more than 350 gene-therapy studies. Retroviral vectors are particularly suited for gene-correction of cells due to long-term and stable expression of the transferred transgene(s), and also because little effort is required for their cloning and production. Several monogenic inherited diseases, mostly immunodeficiencies, can now be successfully treated.
690
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What is Morgellons disease?
It is a skin condition in which individuals have skin lesions that contain some kind of fibers. Patients often complain of bugs crawling under their skin. The disease is of unknown origin and may be psychosomatic, however recent evidence indicates it could be transmitted by a tick.
2,361
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What is the target of a drug pidilizumab?
Pidilizumab is a a humanised monoclonal antibody that targets programmed death-1 pathway.
3,740
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What is known about MER41 repeat sequences?
We report eleven new families of MEdium Reiteration frequency (MER) interspersed repeats in the genomes of Primates, Rodentia, and Lagomorpha. Two families of the human repeats, MER 46 and MER 47, represent non-autonomous DNA transposons. These sequences are flanked by TA target site duplications and have terminal inverted repeats (TIRs) similar to TIRs of DNA transposons. The sequences of five other families of repeats, MER41, MER48, MER50, MER51, and RMER3, resemble long terminal repeats of retroviruses. A potential involvement of some of the reported MER repeats in the regulation of transcription and genetic rearrangements is suggested. Age estimations place the origin of most MER repeats at the time of decline in MIR (Mammalian-wide Interspersed Repeats) retroposition and before the origin of the Alu familyMER41 repeat sequences contain inducible STAT1 binding sites
863
[ 9204548, 20625510 ]
Which java utility has been developed for class hidden markov models?
JUCHMME is an open-source software package designed to fit arbitrary custom Hidden Markov Models (HMMs) with a discrete alphabet of symbols, and is used for biological sequence analysis and class hidden markov models in Java EE 8 and Java EE 9.
4,269
[ 31250907 ]
What kind of chromatography is HILIC?
Hydrophilic Interaction Chromatography (HILIC)
26
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Which is the main protein in brown adipose tissue (BAT) active in thermogenesis?
Uncoupling protein 1 (UCP1) is the hallmark protein responsible for cold- and diet-induced thermogenesis in brown adipose tissue (BAT).
2,697
[ 28794154, 28057582, 26518386, 28453364, 26304220, 26515423 ]
which mutations of troponin C gene have been found to cause hypertrophic cardiomyopathy?
The following mutations of troponin C gene have been found to cause hypertrophic cardiomyopathy: L29Q; A8V; A31S; E134D; c.363dupG; A23Q; D145E and C84Y
56
[ 24260207, 18285522, 19506933, 19439414, 22489623, 22815480, 20566645, 21262074, 23425245, 16302972, 18572189, 20459070 ]
List types of avoided words in bacterial genomes
Short palindromic sequences (4, 5 and 6 bp palindromes) are avoided at a statistically significant level in the genomes of several bacteria, including the completely sequenced Haemophilus influenzae and Synechocystis sp. genomes and in the complete genome of the archaeon Methanococcus jannaschii. Palindromes corresponding to sites for restriction enzymes from other species are also avoided, albeit less significantly, suggesting that in the course of evolution bacterial DNA has been exposed to a wide spectrum of restriction enzymes, probably as the result of lateral transfer mediated by mobile genetic elements, such as plasmids and prophages. Palindromic words appear to accumulate in DNA once it becomes isolated from restriction-modification systems, as demonstrated by the case of organellar genomes.
678
[ 9171096, 12762852 ]
Is shotgun lipidomics the direct infusion of a lipid sample into a mass spectrometer?
Yes, shotgun lipidomics relies on direct infusion of total lipid extracts into a high-resolution tandem mass spectrometer.
275
[ 21207296, 21755525, 17920553, 19408941, 22282095, 22629264, 22946708, 23825371 ]
Which mutation is associated with PLMS (periodic limb movements in sleep)?
missense substitution, Met1Val (M1V), was identified in the DCX gene
1,457
[ 19619967 ]
According to guidelines, insulin resistance is one risk factor in the diagnosis of metabolic syndrome, name 3 more risk factors.
Metabolic syndrome (MetS) is generally defined as a cluster of metabolically related cardiovascular risk factors which are often associated with the condition of insulin resistance, elevated blood pressure, and abdominal obesity.
2,480
[ 23519746, 26280340, 17137436, 28106792, 23145009, 16762931, 10682170, 18497723, 10863169, 26543426, 17125447, 19108808, 12137304, 15827427, 26871396, 11276389, 15940204, 12148078, 17469041 ]
What are the features of the AESOP syndrome?
Adenopathy and Extensive Skin Patch Overlying a Plasmacytoma is defined as the AESOP Syndrome.
3,877
[ 12544710, 23198009, 31119772, 23473278, 27531391 ]
What is a potential alternate uses(repositioning) for Primaquine
Primaquine Diphosphate, a Known Antimalarial Drug, Blocks Vascular Leakage Acting Through Junction Stabilization. PD could be used as a novel drug for vascular leakage by maintaining endothelial integrity
4,237
[ 33787719, 28900272, 32125014, 34149436, 34884765 ]
Are CTCF and BORIS involved in genome regulation and cancer?
Yes. CTCF is ubiquitously expressed and plays diverse roles in gene regulation, imprinting, insulation, intra/interchromosomal interactions, nuclear compartmentalisation, and alternative splicing. CTCF has a single paralogue, the testes-specific CTCF-like gene (CTCFL)/BORIS. CTCF and BORIS can be deregulated in cancer. The tumour suppressor gene CTCF can be mutated or deleted in cancer, or CTCF DNA binding can be altered by epigenetic changes. BORIS is aberrantly expressed frequently in cancer, leading some to propose a pro-tumourigenic role for BORIS. However, BORIS can inhibit cell proliferation, and is mutated in cancer similarly to CTCF suggesting BORIS activation in cancer may be due to global genetic or epigenetic changes typical of malignant transformation.
967
[ 21465478, 23390377, 21811597, 16140943, 16140944, 17962299, 12191639, 24657531 ]
Are EDNRB mutations involved in the development of Hirschsprung disease?
Although mutations in eight different genes (EDNRB, EDN3, ECE1, SOX10, RET, GDNF, NTN, SIP1) have been identified in affected individuals, it is now clear that RET and EDNRB are the primary genes implicated in the etiology of HSCR. Mutations in genes of the RET receptor tyrosine kinase and endothelin receptor B (EDNRB) signaling pathways have been shown to be associated in HSCR patients. Molecular genetic analyses have revealed that interactions between mutations in the genes encoding the RET receptor tyrosine kinase and the endothelin receptor type B (EDNRB) are central to the genesis of HSCR.
1,285
[ 15834508, 12355085, 9094028, 21915282, 18693272, 16145050, 15294878, 20009762, 14669347, 10664228, 11484199, 12574515, 8852660, 11302967, 11471546, 14633923, 9035203, 11434563, 22132166, 10792313, 20633936, 10964697, 12631670, 16618617 ]
Sclerostin regulates what process?
Sclerostin plays a critical role in bone homeostasis and its deficiency or pharmacological neutralization increases bone formation
2,595
[ 12702725, 21312267, 26826396, 24949665, 27742498, 22082361, 22206666, 24151757, 23845326, 21991382, 21890009, 28571484, 23737439, 28081119, 20043874, 27965160, 25248363, 22836717, 27342581, 23233270 ]
Is pembrolizumab effective against Ewing's sarcoma?
None of the 13 patients with Ewing's sarcoma receiving pembrolizumab had an objective response.
2,788
[ 28988646 ]
Which histone modifications have been associated to alternative splicing?
H3K36m3 has been systematically associated to exon inclusion in almost all published studies. Other marks have been associated as well in specific studies to exon expression, but it can not be concluded that the effect of these marks in exon expression it is not a consequence of their effect in gene expression.
571
[ 21358630, 19687145, 22455468, 22242188, 23353998, 19182803, 20133523, 21057525, 22345622, 21173847, 21289049, 20407423 ]
Does Uc.63+ promote sensitivity to treatment in prostate cancer?
No. Overexpression of Uc.63+ increases the expression of AR and its downstream molecule PSA and promotes resistance to docetaxel through AR regulation. In patients treated with docetaxel, the expression of serum Uc.63+ in the docetaxel-resistant patients is higher than that in the docetaxel-sensitive patients (P = 0.011). Moreover, Kaplan-Meier analysis indicates that the high expression of serum Uc.63+ correlated with a worse prognosis (P = 0.020).
3,327
[ 29212226 ]
What is known about the gut bacteria and depression.
Evidence indicates that major depression is accompanied by increased translocation of gut commensal Gram-negative bacteria (leaky gut) and consequent activation of oxidative and nitrosative (O&NS) pathways. Major depressive disorder (MDD) is a highly prevalent and debilitating mental illness, which is associated with disorder of gut microbiota.
2,935
[ 28215162, 29432299, 28455694, 29134359 ]
What is CVT-301?
CVT-301 is inhaled levodopa (LD) formulation for development as a self-administered treatment for relief of OFF periods in Parkinson's disease. CVT-301 provided rapid improvement of motor function, and daily OFF time was significantly reduced at the higher dose.
3,116
[ 30479171, 27345931, 27090868, 27743318, 27733560, 29161531, 28494719 ]
What is the use of the Liverpool Elbow Score?
The Liverpool Elbow Score (LES) is a newly developed, validated elbow-specific score. It has been widely used to assess the outcomes of total elbow replacement in various conditions.
3,752
[ 20427841, 19380130, 25441571, 21813443, 23456483, 19373479, 28601487, 30126385, 23312819, 33069940, 17169590, 23325975, 25105787 ]
Which methods have been developed for extracting sequence variants from the literature?
TmVar and nala
2,996
[ 28200120, 23564842 ]
Is intraoperative radiotherapy used for treatment of glioblastoma?
Yes, intraoperative radiotherapy (IORT) is being used for treatment of glioblastoma. IORT combined with extensive tumor removal has an acceptable toxicity in previously irradiated patients and can be effective for selected recurrent malignant brain tumors.
2,166
[ 7623073, 26824195, 25535398, 25724425, 3014858, 8092110, 7709332, 16044217, 2852827, 6328061 ]
Which deiodinases are present in skeletal muscle?
Type 2 and Type 3 deiodinases are expressed in skeletal muscle and their expression is modulated by disease state and fasting.
481
[ 16127464, 19293265, 17986277, 23396445 ]
Are mouse chromosomes acrocentric?
yes
2,409
[ 7606923, 6177004, 8896561, 9177778, 100785, 2767161, 3248380, 6538846 ]
Should minocycline be used for mild Alzheimer disease?
No. Minocycline did not delay the progress of cognitive or functional impairment in people with mild Alzheimer disease during a 2-year period.
3,984
[ 31738372 ]
Which protein is found to be mutated in Friedreich's ataxia?
It is generally accepted that Friedreich's ataxia (FRDA) is caused by a deficiency in frataxin expression, a mitochondrial protein involved in iron homeostasis, which mainly affects the brain, dorsal root ganglia of the spinal cord, heart and in certain cases the pancreas
1,677
[ 18206656, 20819074, 18537827, 25430730, 16510442, 9700204, 20674094, 25929520, 11823441, 12393810, 24242291, 12194387, 23247094, 18463734, 12174969, 16787388, 12140189, 25597503 ]
Which factors play a role in promoter proximal pausing of RNA polymerase II?
NELF (negative elongator factor) and DSIF (DRB Sensitivity Inducing Factor)
1,636
[ 12782658, 24050178, 22549956, 19860741, 20170405, 20534440, 16880520, 21670248, 22244331, 19245807, 18332113, 17942706, 23699410, 23589332, 17567605, 20028984, 18373978 ]
What is BioCreative?
A community wide effort to evaluate biomedical information extraction and text mining.
1,805
[ 23327936, 22151968, 18834496, 23160416, 22438567, 15960842, 27589962, 22151178, 15960843, 18629295, 20498514, 16504116, 15960821, 18834487, 18834491, 15960829, 22151647 ]
Is there an association between bruxism and reflux
There is an association between bruxism and reflux.
530
[ 19089153, 21248360, 23937680, 23738993, 14655925, 15520695, 24011800, 19830044 ]
What is known about potential implication of thyroid hormone receptors in arterial hypertension?
thyroid hormone receptors are implicated in arterial hypertension
1,316
[ 15701601, 21654857, 23257356, 11172625, 15611830, 22068246, 8070428, 22837855 ]
Which is the genetic basis of Spinal Muscular Atrophy (SMA)?
The molecular genetic basis of spinal muscular atrophy (SMA), an autosomal recessive neuromuscular disorder, is the loss of function of the survival motor neuron gene (SMN1). Mutations of the SMN1 gene are responsible for SMA. A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy. A critical question is why only the homozygous loss of SMN1, and not SMN2, results in spinal muscular atrophy (SMA). H4F5 is also highly deleted in type I SMA chromosomes, and thus is a candidate phenotypic modifier for SMA. The molecular genetic basis of spinal muscular atrophy (SMA), an autosomal recessive neuromuscular disorder, is the loss of function of the survival motor neuron gene (SMN1).
116
[ 22323744, 19062530, 22628388, 9073029, 20225030, 12220455, 12115944, 17076267, 9731538, 19646678, 11442327, 10339583 ]
Which bacteria was EcoRI, restriction endonuclease isolated from?
Among hundreds of restriction endonucleases, the Eco R1 enzyme is the most useful and widely investigated enzyme and was isolated from E. coli RY 13
2,694
[ 3025706, 2996987, 6099579, 349563 ]
Describe CGmapTools
CGmapTools improves the precision of heterozygous SNV calls and supports allele-specific methylation detection and visualization in bisulfite-sequencing data.
2,847
[ 28968643 ]
Is oxidative stress affected by FOXO expression?
Yes. In different cell types, induction of forkhead transcription factor FOXO1 was found to increase expression of the mitochondrial antioxidant manganese superoxide dismutase, and lead to suppression of oxidative stress.
259
[ 16709600, 24269635, 22986347, 19842039 ]
Could Hyperthermic intraperitoneal chemotherapy (HIPEC) be effective for the treatment of recurrent ovarian cancer?
There is level-one evidence suggesting the benefit of postoperative adjuvant intraperitoneal chemotherapy for patients with advanced ovarian cancer after cytoreductive surgery, albeit catheter-related complications resulted after treatment discontinuation. Studies report the use of HIPEC predominantly in the setting of recurrent disease and have demonstrated encouraging results, which merits further investigation in future clinical trials
1,544
[ 18473354, 19701772, 21112721, 23022234, 19948452, 20721959, 20039210, 24675244, 22572845, 24035502, 23972918, 22591422, 22591426, 21543112, 24962381, 19356887, 23226073, 22845405, 19917539, 21842290, 19345401 ]
What is the mammalian version of arginine vasotocin?
Arginine vasotocin (AVT) is the non-mammalian homolog of arginine vasopressin (AVP)
4,371
[ 26739197, 19018131, 16005652, 26129685, 19576218, 28288796, 24107293, 18330923, 19341739, 11423156, 18174156, 28855890, 25997523, 192600, 28824546, 11467881, 10848505, 22802939, 22906877, 27940222 ]
List features of the DOOR syndrome.
DOOR syndrome is a rare multisystem genetic disorder, consisting of deafness (sensorineural), onychodystrophy, osteodystrophy, and mental retardation.
3,099
[ 12457410, 17994565, 18263975, 21743113, 15279406, 19830001, 7808978, 8256819 ]