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Which biological drugs are EMA approved for pediatric psoriasis?
Currently there are three European Medicines Agency (EMA)-approved biological treatment options for pediatric psoriasis: etanercept, ustekinumab, and adalimumab.
4,163
[ 31514420 ]
What is the Lupus Severity Index (LSI)?
It is a simple systemic lupus erythematosus (SLE) severity index that requires knowledge of only American College of Rheumatology (ACR) criteria and subcriteria.
3,607
[ 27026812 ]
Which molecule is targeted by Olaratumab?
Olaratumab is a recombinant human monoclonal antibody that binds to platelet-derived growth factor receptor-α (PDGFRα). It is used for treatment of soft tissue sarcoma.
2,872
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Can desvenlafaxine be used at a dose of 50mg/day?
Yes, desvenlafaxine can be at 50mg/day to treat patients with major depressive disorder. Studies suggest that 50 mg is the minimum effective dose of desvenlafaxine for the treatment of major depressive disorder. The recommended dose of DVS ranges from 50 to 100 mg.
1,216
[ 20107296, 23881185, 22173281, 21067460, 23473348, 23517291, 23587982, 19407730, 18507895, 19407711 ]
What is the role of miR-193b in prostate cancer?
Overexpression of miR-193b led to the inhibition of the majority of the 41 genes in prostate cancer cell lines.
4,383
[ 31225930, 20073067 ]
What is the mechanism of drug-induced gingival overgrowth?
Drug-induced gingival overgrowth (GO) is a frequent and adverse side-effect associated principally with the administration of the immunosuppressive drug cyclosporin A (CsA) and also certain anti-epileptic and anti-hypertensive drugs. It is characterized by a marked increase in the thickness of the epithelial layer and the accumulation of excessive amounts of connective tissue. Keratinocyte growth factor (KGF), which is a potent epithelial cell mitogen that has been implicated in other hyperplastic conditions could be involved in the molecular pathology of GO. Also, since cathepsin-L deficiency was reported to be associated with thickening of the skin, impaired cathepsin-L activity may play a key role in the establishment of skin and gingival abnormalities seen in I-cell disease. In addition, reduced cathepsin-L activity may play an important role in inducing drug-induced gingival overgrowth. Furthermore, the enhanced proliferation of gingival fibroblasts observed in this disease could be caused at least partly by the effects of the drugs on the cell cycle and cyclin expression in these cells. The increase in cell growth that occurs in drug-induced gingival overgrowth may be mediated by over-expression of cyclin B1.
1,670
[ 23878564, 12466121, 16006738, 11453236, 16712728, 15221438, 8233439 ]
Does a linker histone exist in the yeast genome?
Here, we present our results showing a connection between the linker histones, the higher-order chromatin structures, and the process of chronological lifespan of yeast cells. Characteristically, linker histone depleted chromatin generally exhibited longer chromatin loops than the wild-type. These results suggest that HHO1p may play a similar role to linker histones, but at restricted locations in the chromatin. The binding was structure specific, since the use of double-stranded DNA, or a mutant Hho1p in which the second DNA binding site of globular domain 1 was abolished, resulted in a significant decrease in bridged binding.
409
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What are CRISPR-Cas12a proteins?
CRISPR-Cas12a (Cpf1) proteins are RNA-guided enzymes that bind and cut DNA as components of bacterial adaptive immune systems. Like CRISPR-Cas9, Cas12a has been harnessed for genome editing on the basis of its ability to generate targeted, double-stranded DNA breaks. RNA-guided DNA binding unleashes indiscriminate single-stranded DNA (ssDNA) cleavage activity by Cas12a that completely degrades ssDNA molecules
3,092
[ 29449511 ]
Which drugs are included in GI cocktail?
"GI cocktail" is a mixture of liquid antacid, viscous lidocaine, and an anticholinergic.
3,554
[ 2202240, 15219296, 22463973, 7492037, 14585449, 24791662 ]
Is exonuclease Xrn1 a component of the P-bodies?
In eukaryotic cells, XRN1 is often found in particles known as processing bodies (P bodies) together with other proteins involved in the 5' → 3' degradation pathway, such as DCP2 and the helicase DHH1 (Me31B). In yeast and human tissue culture cells, Xrn1 has been shown to be a component of P-bodies (processing bodies), dynamic cytoplasmic granules where RNA degradation can take place. Many P-body components including LSM1, GW182, DDX3, DDX6 and XRN1, but not others like DCP1a and EDC4 are recruited to the viral replication sites, as evidenced by their colocalization at perinuclear region with viral NS3.
321
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Which genes are associated with Ehlers-Danlos syndrome type I/II?
It is currently estimated that approximately 50% of patients with a clinical diagnosis of classic Ehlers-Danlos syndrome harbor mutations in the COL5A1 and the COL5A2 gene, encoding the α1 and the α2-chain of type V collagen, respectively
1,592
[ 10796876, 9425231, 20847697, 12145749, 9499606, 8923000, 8752669, 9783710, 8541855 ]
When was dupilumab approved by EMA?
Dupilumab was approved fby the EMA in 2017.
4,387
[ 31231591 ]
Has ZP-PTH been tested in a phase II clinical trial?
Yes, ZP-PTH was successfully tested in a phase II clinical trial for the treatment of post-menopausal women with osteoporosis.
3,387
[ 20183917 ]
Cemiplimab is used for treatment of which cancer?
Cemiplimab is a PD-1 inhibitor that is approved for treatment of metastatic or locally advanced cutaneous squamous cell carcinoma.
2,765
[ 20007090, 29863979, 30456447, 30377167 ]
What is a cytokine storm?
A cytokine storm is an undesirable elevation of cytokine levels, as may occur in response to a drug or a device, may lead to severe side effects such as systemic inflammatory response syndrome.
3,350
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Has dupilumab been FDA approved for atopic dermatitis?
Yes, dupilumab has been approved by FDA for atopic dermatitis.
4,169
[ 30785362, 31603635, 32344789, 31364023, 32439390 ]
Which drugs are included in PolyIran?
PolyIran polypill is composed of acetylsalicylic acid, hydrochlorothiazide, enalapril, and atorvastatin, whose efficacy in the treatment and prevention of cardiovascular disease has been documented in clinical trials.
3,619
[ 26265520, 25230980, 28882196 ]
List sirtuin inhibitors.
Sirtinol nicotinamide (NAM) LC-0296 BZD9L1
3,072
[ 29330215, 26722027, 30066578, 28254776, 29235227, 29659581 ]
Which phenomenon is known as the "calcium paradox" in the isolated perfused heart?
When hearts are reperfused with Ca++ after a short period of Ca++-free perfusion, irreversible loss of electrical and mechanical activity is observed. This phenomenon, first described by Zimmerman and Hulsmann, was termed the "calcium paradox". This phenomenon is concomitant with a rapid consumption of myocardial high-energy phosphate stores. The Ca(2+) paradox represents a good model to study Ca(2+) overload injury in ischemic heart diseases. The Ca(2+) paradox can be elicited by perfusing isolated hearts with Ca(2+)-free media for 3 min or 5 min followed by 30 min of Ca(2+) repletion. A possible mechanism for the 'calcium paradox' is that exposure to a calcium-free medium removes extracellular calcium rendering the sarcolemma more permeable to calcium. On calcium repletion, cell injury is triggered by calcium influx. Cardiac dysfunction due to Ca2+ -paradox may be associated with apoptosis.
470
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Which pharmacogenetic test is available for abacavir?
The pharmacogenetic test recommended prior to abacavir administration is the HLA B*5701 genotyping.
1,368
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Which annotated database of A-to-I RNA editing is available?
RADAR is a rigorously annotated database of A-to-I RNA editing. RADAR includes a comprehensive collection of A-to-I RNA editing sites identified in humans (Homo sapiens), mice (Mus musculus) and flies (Drosophila melanogaster), together with extensive manually curated annotations for each editing site. RADAR also includes an expandable listing of tissue-specific editing levels for each editing site, which will facilitate the assignment of biological functions to specific editing sites.
1,961
[ 24163250 ]
What is the association between kidney donation risk of gestational complications?
Kidney donation seems to elevate the risks of gestational complications. Postdonation pregnancies were associated with a higher risk of gestational diabetes, gestational hypertension, proteinuria and preeclampsia. However, others reported that donor nephrectomy is not detrimental to the prenatal course or outcome of future pregnancies.
2,495
[ 27591246, 19353771, 8990390, 26090646 ]
Aleglitazar is agonist of which receptor?
Aleglitazar is a balanced peroxisome proliferator-activated receptor-α/γ agonist.
1,239
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In what type(s) of plant organelles we can detect prolamellar bodies?
Prolamellar body (PLB) is a highly organized lipid structure, which is the main site of accumulation of the ternary light-harvesting POR complex LHPP (light-harvesting NADPH:protochlorophyllide oxidoreductase:protochlorophyllide). Prolamellar bodies have been discovered in etioplasts with the use of thin section electron microscopy. Etioplasts develop in the place of chloroplasts in the dark. During skotomorphogenesis in angiosperms, NADPH:protochlorophyllide oxidoreductase (POR) forms the photolabile NADPH-POR-protochlorophyllide (Pchlide) ternary complexes. Prolamellar bodies (PLBs) efficiently capture the light energy for photo conversion in etioplasts. Upon illumination, the etioplasts transformed into regular chloroplasts. PLBs are formed not only in etioplasts but also in chloroplasts in young developing leaves during the night.
643
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Which peak calling algorithm employs mixture model clustering under the hood?
JAMM (Joint Analysis of NGS replicates via Mixture Model clustering) is a peak finder that can integrate information from biological replicates, determine enrichment site widths accurately and resolve neighboring narrow peaks. JAMM is a universal peak finder that is applicable to different types of datasets.
1,762
[ 25223640 ]
Is POLD3 essential for mouse development?
Yes. The Pold3 gene encodes a subunit of the Polδ DNA polymerase complex. Pold3 orthologs are not essential in Saccharomyces cerevisiae or chicken DT40 cells, but the Schizosaccharomyces pombe ortholog is essential. POLD3 also has a specialized role in the repair of broken replication forks, suggesting that POLD3 activity could be particularly relevant for cancer cells enduring high levels of DNA replication stress. In mouse, POLD3 is essential for development and is also required for viability in adult animals.
2,131
[ 27524497 ]
Which enzyme is inhibited by a drug fostamatinib?
Fostamatinib (R788) acts by inhibiting spleen tyrosine kinase. Fostamatinib (R788) is a prodrug rapidly converted to its active metabolite on oral administration. This (known as R406) is a potent inhibitor of spleen tyrosine kinase that is required for the expression of a number of proinflammatory cytokines. Fostamatinib has been shown to be effective in patients with rheumatoid arthritis, leukemia, lymphoma, bronchial asthma and thrombocytopenic purpura.
686
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Which are the cardiac effects of thyronamines?
Thyronamines have negative chronotropy, negative inotropy; in particular thyronamines are considered negative inotropic agents
779
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Is Miller-Dieker syndrome associated with abnormalities of chromosome 1?
No. Miller-Dieker syndrome is caused by a heterozygous deletion of chromosome 17p13.3 involving the genes LIS1 and YWHAE and leads to malformations during cortical development.
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Describe Canvas SPW
Whole genome sequencing is becoming a diagnostics of choice for the identification of rare inherited and de novo copy number variants in families with various pediatric and late-onset genetic diseases. Joint variant calling in pedigrees is hampered by the complexity of consensus breakpoint alignment across samples within an arbitrary pedigree structure. Canvas SPW is a tool developed for the identification of inherited and de novo copy number variants from pedigree sequencing data. Canvas SPW supports a number of family structures and provides a wide range of scoring and filtering options to automate and streamline identification of de novo variants. The tool is available for download from https://github.com/Illumina/canvas.
2,943
[ 29028893 ]
What does PCAT6 stand for?
PCAT6 stands for prostate cancer-associated transcript 6.
4,678
[ 34620745 ]
In which way does DNA hydroxymethylation affect patients with Systemic Lupus Erythematosus?
DNA hydroxymethylation contributes to the aberrant regulation of genes transcription in the pathogenesis of SLE. A combined analysis of differential DNA hydroxymethylation profile and gene expression profile in SLE CD4(+) T cells, shows 131 genes with increased 5-hmC in promoter regions and up-regulated expression in SLE CD4(+) T cells compared with healthy controls, including selected immune-related genes, i.e. SOCS1, NR2F6 and IL15RA.
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Are Crocus sativus compounds being considered against Alzheimer's disease?
Yes, it has been observed that Crocus sativus extracts and compounds have a positive effect against Alzheimer's disease.
3,184
[ 28471166 ]
What is PANDAS disease?
PANDAS stands for (pediatric autoimmune neuropsychiatric disorders associated with streptococcal infection) and has been suggested to be a result of a disordered immune response following an infection causing neuropsychiatric symptoms.
2,873
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What is the purpose of the Unique Connectivity of Uncharged Compounds (UC2) search tool?
The Unique Connectivity of Uncharged Compounds (UC2) search tool uses unique connectivity of uncharged compounds for metabolite annotation by database searching in mass spectrometry-based metabolomics.
3,419
[ 29040459 ]
List proteins interacting with Star-PAP
Phosphorylation regulates the Star-PAP-PIPKIα interaction and directs specificity toward mRNA targets. Star-PAP directly associated with cleavage and polyadenylation specificity factor (CPSF) 160 and 73 subunits and also the targeted pre-mRNA. we show that Larp7 interacts with a poly(A) polymerase Star-PAP to maintain Lin28 mRNA stability.
2,884
[ 24768001, 21102410, 26138484, 18288197 ]
Describe ATR-16 syndrome.
ATR-16 syndrome is due to alterations on chromosome 16p13.3, and is usually accompanied by alpha-thalassemia, mild-moderate mental retardation, dysmorphic facial features, skeletal and genitourinary malformations.
2,119
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Which are the major types of the motor speech disorder dysarthria?
Dysarthria is a motor speech disorder which can be classified according to the underlying neuropathology and is associated with disturbances of respiration, laryngeal function, airflow direction, and articulation resulting in difficulties of speech quality and intelligibility. There are six major types of dysarthria: "flaccid dysarthria" associated with lower motor neuron impairment, "spastic dysarthria" associated with damaged upper motor neurons linked to the motor areas of the cerebral cortex, "ataxic dysarthria" primarily caused by cerebellar dysfunction, and "hyperkinetic dysarthria" and "hypokinetic dysarthria", which are related to a disorder of the extrapyramidal system. The sixth is generally termed a "mixed dysarthria" and is associated with damage in more than one area, resulting in speech characteristics of at least two groups.
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Is liraglutide effective for weight reduction?
Yes, liraglutide is effective and approved for weight reduction.
3,863
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What disease is the ALK tyrosine kinase associated with?
The anaplastic lymphoma kinase (ALK) gene encodes a receptor tyrosine kinase, and many kinds of ALK fusion genes have been found in a variety of carcinomas
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Is selumetinib effective in thyroid cancer?
Yes, selumetinib was shown to be effective treatment for thyroid cancer. Selumetinib may reverse radioiodine uptake in patients with radioiodine-refractory differentiated thyroid cancer. Clinical efficacy of selumetinib was also investigated in other solid tumors.
1,532
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What is the mechanism of action of ocrelizumab for treatment of multiple sclerosis?
Ocrelizumab is a cytolytic monoclonal antibody that binds CD20 antigen present of B cells. It is approved for treatment of multiple sclerosis.
921
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What is filipin staining used for?
Intracellular and total cholesterol (TC) were measured using filipin staining.
2,850
[ 28859904, 30258093, 29845234, 30093524, 29197565 ]
Has the protein SIRT2 been associated to cervical cancer?
Yes. A progressive increase in the expression of both SIRT2 and SIRT7 was noted during cancer progression in the following order: normal < preneoplasia < cancer.
3,068
[ 25794641, 28776959 ]
Is K-63 linked protein ubiquitination related to proteasomal degradation?
Ubiquitination is best known for its role in targeting proteins for degradation by the proteasome, but evidence of the nonproteolytic functions of ubiquitin is also rapidly accumulating. One example of the regulatory, rather than proteolytic, function of ubiquitin is provided by study of the tumor necrosis factor (TNF) receptor-associated factor (TRAF) proteins, which function as ubiquitin ligases to synthesize lysine 63 (K(63))-linked polyubiquitin chains to mediate protein kinase activation through a proteasome-independent mechanism. Some TRAF proteins, such as TRAF2 and TRAF3, have recently been shown to have a positive role in the canonical pathway that activates nuclear factor kappaB (NF-kappaB) through IkappaB kinase beta (IKKbeta), but a negative role in the noncanonical pathway that activates NF-kappaB through IKKalpha. These opposing roles of TRAF proteins may be linked to their ability to synthesize distinct forms of polyubiquitin chains. Indeed, the TRAF2-interacting protein RIP can mediate IKK activation when it is modified by K(63) polyubiquitin chains, but is targeted to degradation by the proteasome when it is K(48)-polyubiquitinted by the NF-kappaB inhibitor A20. Thus, ubiquitin chains are dynamic switches that can influence signaling outputs in dramatically different ways.In contrast to K48-linked polyubiquitin chains, K63-linked polyubiquitin chains function in nonproteasomal biological processes.
821
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Can Systemic Lupus Erythematosus cause seizures?
In the extant literature, an increased risk of seizures has been described in several inflammatory/autoimmune disorders, including systemic lupus erythematosus (SLE)
3,656
[ 18813701, 22492779, 29208845, 29103182, 15985581, 28387089, 15557494, 17875548 ]
What is the incidence of cystic fibrosis in the caucasian population?
Estimates of the newborn frequency of cystic fibrosis in different Caucasian groups range from 4 times more to 40 times less common than the generally accepted figure of 1:2000.
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What is Q-SYMBIO?
Q-SYMBIO is a randomised, double-blind, multicentre trial with focus on SYMptoms, BIomarker status [Brain-Natriuretic Peptide (BNP)], and long-term Outcome [hospitalisations/mortality] that assessed coenzyme Q10 as adjunctive treatment of chronic heart failure. METHOD: Patients with moderate to severe HF were randomly assigned in a 2-year prospective trial to either CoQ10 100 mg 3 times daily or placebo, in addition to standard therapy. The primary short-term endpoints at 16 weeks were changes in New York Heart Association (NYHA) functional classification, 6-min walk test, and levels of N-terminal pro-B type natriuretic peptide. The primary long-term endpoint at 2 years was composite major adverse cardiovascular events as determined by a time to first event analysis. CONCLUSION: Long-term CoQ10 treatment of patients with chronic HF is safe, improves symptoms, and reduces major adverse cardiovascular events.
3,504
[ 25282031 ]
Are there any clinical trials of the effect of evening primrose oil on postmenopausal symptoms ?
Yes
724
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Do T-Cells regulate neuropathic pain?
Macrophage-T cell interactions can mediate neuropathic pain through the glucocorticoid-induced TNF
1,950
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What hand deformities do patients with Apert syndrome present with?
In patients with Apert syndrome, the hands demonstrate many disturbances of soft tissue and bony structures. These include a short thumb with radial clinodactyly, complex syndactyly with a bony fusion involving the index, long and ring fingers, symphalangism and simple syndactyly of the fourth web space. The soft tissue anomalies involve the intrinsic muscles, the extrinsic tendon insertions and the neurovascular bundles.
1,415
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Describe participants' experiences from the 100,000 genomes project
Interviewees' decisions to participate in 100 kG P were based on interpersonal and institutional trust in the NHS, and on an investment in improving care for the future. Interviewees relied upon receiving good ongoing NHS care for managing their own or their child's rare disease, but they worried about what their relationships with NHS healthcare professionals would be like in future. A few participants worried about whether Genomics England's biorepository would remain protected and an asset of the NHS.
4,046
[ 30503854 ]
What are the pyknons?
Using an unsupervised pattern-discovery method, the human intergenic and intronic regions were processed and all variable-length patterns with identically conserved copies and multiplicities above what is expected by chance were catalogued. Among the millions of discovered patterns, a subset of 127,998 patterns was found, termed pyknons, which have additional nonoverlapping instances in the untranslated and protein-coding regions of 30,675 transcripts from 20,059 human genes. The pyknons arrange combinatorially in the untranslated and coding regions of numerous human genes where they form mosaics. Pyknons might represent a biologically important link between coding and non-coding DNA.
970
[ 19229130, 16751093, 16636294, 19452047 ]
List features of the Kaufman Oculocerebrofacial Syndrome.
Clinical features of the Kaufman Oculocerebrofacial Syndrome include hypotonia, developmental delay, intellectual disability, low cholesterol levels, microcephaly, long narrow face, ocular anomalies, and long thin hands and feet.
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Does MVIIA and MVIIC bind to the same calcium channel?
No, the omega-conotoxin MVIIC blocks P/Q-type calcium channels with high affinity and N-type calcium channels with low affinity, while the highly homologous omega-conotoxin MVIIA blocks only N-type calcium channels.
1,434
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What is the function of a viral peplomer?
The coronavirus peplomer protein S is responsible for attachment and fusion during viral entry as well as for the induction of cell to cell fusion. Since tissue affinities are a function of the viral peplomer-mediated attachment of virus to cells and are often directly related to pathogenicity,
3,700
[ 1658026, 9782260, 1402806, 7679743 ]
What are the reported adverse effects of gabapentin used in children?
Limited literature data, suggest that gabapentin may cause rash that is severe enough to necessitate discontinuation in a small percentage of children. In a large survey of all age groups: The commonest adverse effects seen were somnolence, fainting, ataxia, nystagmus, tremor and headache, fatigue. However, their incidence was low and intensity mild. In a pediatric group only somnolence and dizziness were reported in 2 out of 33 patients. Behavioural adverse effects are more common in children with intellectual disability and attention deficit, worse in <10yo : hyperactivity, defiance, irritability, agitation, aggression, explosive outbursts, oppositional behavior, often warranting discontinuation of the medication.
1,606
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Which receptor is inhibited by Teprotumumab?
Teprotumumab is a monoclonal inhibitory antibody targeting IGF-1 receptor.
3,592
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Which types of bacterial microflora are associated with the progression of peri-implantitis?
Bacteria such as A. actinomycetemcomitans, P. gingivalis, T. forsythensis, T. denticola, P. intermedia and F. nucleatum are associated with the progression of peri-implantitis.
870
[ 14598129, 20976394, 23937262, 9526919 ]
What is the Daughterless gene?
The daughterless (da) gene in Drosophila encodes a broadly expressed transcriptional regulator whose specific functions in the control of sex determination and neurogenesis have been extensively examined.
4,646
[ 8217842, 11731451, 8149916 ]
List interaction partners for the protein GATA1.
GATA-1 interact with factor Gfi-1b, the repressive MeCP1 complex, the chromatin remodeling ACF/WCRF complex, FOG-1, TAL-1, Ldb-1 and LMO2-C.
1,012
[ 16339652, 17108004, 18844071, 15542823, 12032775, 21532337, 20959602, 15920471 ]
What is the results of inactivated ANGPLT3?
Complete ANGPTL3 deficiency caused by loss-of-function mutations of ANGPTL3 is associated with a recessive hypolipidemia
2,120
[ 24798233, 22062970 ]
Which compound is a specific inhibitor for Nox1 and Nox4?
GKT136901 is a specific inhibitor of Nox1 and Nox4.
1,719
[ 21419746, 20558727, 25656366, 22806357, 24511132 ]
What is the role of music therapy in coma patients.
Several studies have shown that music can boost cognitive functions in patients with a disorder of consciousness but it is difficult to conclude since they did not use quantified measures and a control condition/group. Active improvised music therapy may offer an adjuvant form of treatment in the early rehabilitation of severe brain-injured patients.
1,538
[ 23816631, 25071434, 25287735, 12046234, 20663643, 7513085 ]
Describe JACUSA
JACUSA detects single nucleotide variants by comparing data from next-generation sequencing experiments (RNA-DNA or RNA-RNA). In practice, JACUSA shows higher recall and comparable precision in detecting A→I sites from RNA-DNA comparisons, while showing higher precision and recall in RNA-RNA comparisons.
2,493
[ 28049429 ]
Is lumbar puncture the first test that should be performed on a patient with increased intracranial pressure?
No. A lumbar puncture is contraindicated in any patient with signs of increased intracranial pressure because it may precipitate cerebral herniation and death. For this reason, a computed tomography (CT) or magnetic resonance imaging (MRI) scan is done first. When the findings of the scan are normal, a lumbar puncture can be performed, if needed.
4,538
[ 21541088, 11985377, 3550721, 10608260, 2277190, 28965126, 3520526, 5763958, 25685562, 21129599 ]
Which infection can be prevented with Dapivirine?
Vaginal ring containing Dapivirine is used for HIV prevention in women.
1,915
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List proteins that promotes calcification.
tissue nonspecific alkaline phosphatase (TNAP) matrix Gla protein (MGP) fibroblast growth factor-23 (FGF-23) matrix metalloproteinases
4,066
[ 30847765, 31852220, 31768941 ]
List the clinical characteristics of the Smith-Kingsmore syndrome (SKS)
Smith-Kingsmore syndrome (SKS) OMIM #616638, also known as MINDS syndrome (ORPHA 457485), is a rare autosomal dominant disorder reported so far in 23 patients. SKS is characterized by intellectual disability, macrocephaly/hemi/megalencephaly, and seizures. It is also associated with a pattern of facial dysmorphology and other non-neurological features.
3,684
[ 28892148, 31053780 ]
Which are the clinical symptoms of left ventricular noncompaction?
The clinical symptoms of left ventricular noncompaction are: 1) heart failure, 2) systemic thromboembolic events, 3) ventricular arrhythmias and 4) sudden cardiac death.
2,080
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What is the most frequent evolution (next stage) when Aortic intramural hematoma (IMH) is not treated?
Aortic intramural hematoma (IMH) evolves very dynamically in the short-term to regression, dissection, or aortic rupture
4,490
[ 25087203, 15710757, 29274600, 12874185, 32668075, 29945807, 32652687, 25512883, 10567317, 10585078, 19793400, 15066238 ]
What is the chemical structure of Etanercept (ETN)?
Etanercept (ETN) is a soluble fusion protein of the tumor necrosis factor receptor (TNFR) extracellular domain, linked to an Fc part of IgG1. It possesses three N- and 13 O-glycosylation sites, which form a complex with the plasma membrane protein Enbrel. Etanercept has been tested for treatment of solid cancers, including glioblastoma and neuroblastoma, and liver fibrosis.
3,827
[ 28638112, 29020515, 23961669, 24611432, 26665003, 24308717, 29411222, 29887576, 11336570, 12510367 ]
Which enzymes synthesize catecholamines in adrenal glands?
The enzymes that synthesize catecholamines in adrenal glands are: 1) Tyrosine Hydroxylase (TH) 2) Aromatic L-amino acid decarboxylase (AAAD) 3) Dopamine β-hydroxylase (DBH) 4) Phenylethanolamine N-methyltransferase (PNMT)
1,752
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What is Corkscrew Esophagus?
Corkscrew esophagus is a classic finding of diffuse esophageal spasm in barium studies reflecting abnormal contractions, leading to compartmentalization and curling of the esophagus, ultimately giving an appearance similar to a corkscrew or rosary beads.
3,872
[ 27832322, 9705572, 29733830, 15828301, 1736462, 1992626 ]
What is known about telomere length shortening and stress?
A significant relationship between more perceived stress and shorter telomere length is consistent with theoretical frameworks positing that stress induces physiological changes that result in shortened telomeres.
2,017
[ 26853993, 25393133, 26919486, 25070535 ]
What are the symptoms of Rotor syndrome?
Rotor syndrome is characterized by conjugated hyperbilirubinemia, coproporphyrinuria, and near-absent hepatic uptake of anionic diagnostics.
1,054
[ 17464171, 6807787, 22982575, 11972401, 22232210, 20955959 ]
Which is the enzymatic activity of the myotubularin family of proteins?
The myotubularin family of proteins are lipid inositol phosphatases
442
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List algorithms suitable for predicting protein complexes
Protein-Protein interactions (PPI) play a key role in determining the outcome of most cellular processes. The correct identification and characterization of protein interactions and the networks, which they comprise, is critical for understanding the molecular mechanisms within the cell. Large-scale techniques such as pull down assays and tandem affinity purification are used in order to detect protein interactions in an organism. Today, relatively new high-throughput methods like yeast two hybrid, mass spectrometry, microarrays, and phage display are also used to reveal protein interaction networks. Some suitable algorithms for predicting protein complexes are Naive Bayes Classifier, Negatome, Support Vector Machine, PEWCC, iPTMClust, NDComplex, PROCOMOSS, PPI network, metaPIS, EPOF, EAGLE, NFC, MCODE, DPClus, IPCA, CPM, MCL, CMC, SPICi, Core-Attachment, ProRank, ClusterONE, CFinder, Spectral, RNSC, Affinity Propagation, HKC, NWE, CP-DR, Struct2net and PIPE.
1,221
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Which factors drive replisome disassembly during DNA replication termination and mitosis?
CUL-2LRR-1 and UBXN-3.
2,243
[ 28368371 ]
List second messengers.
Cyclic adenosine monophosphate Ceramide Cyclic diguanylate Nitric oxide Calcium Diacylglycerol
4,365
[ 31804167, 31744935, 32441418, 32770509, 31789101, 31740493, 31706224, 32890866, 31710099, 31720987, 31776060 ]
Which proteins participate in the formation of the ryanodine receptor quaternary macromolecular complex?
Junctin is a major transmembrane protein in cardiac junctional sarcoplasmic reticulum, which forms a quaternary complex with the ryanodine receptor (Ca(2+) release channel), triadin, and calsequestrin.
25
[ 22427521, 12909320, 18620751, 11069905, 15205169, 18206802, 16289269, 14638677, 22298808, 9287354, 15731387, 22025663 ]
What does MetaHIT stand for?
Metagenomics of the Human Intestinal Tract (MetaHIT) project are focusing mainly on the human microbiome
2,624
[ 23431991 ]
List STING agonists.
CDN 3'3'-cGAMP dimethylxanthenone-4-acetic acid α-Mangostin
2,960
[ 30079976, 29505322, 29472271, 29170142, 29127039 ]
Does RUNX2 inhibit astrocyte differentiation?
No, RUNX2 promostes astrocyte differentiation.
3,205
[ 27546532 ]
Which gene is responsible for proper speech development?
Transcription factor forkhead box protein P2 (FOXP2) plays an essential role in the development of language and speech.
2,740
[ 25269856, 27148578, 26980647, 15983371, 26212494, 21108403, 17033973, 12876151 ]
What is the origin of XUT transcripts in yeast?
XUTs are a class of Xrn1-sensitive antisense regulatory non-coding RNA in yeast
2,272
[ 21697827, 29114019, 26805575 ]
What is known about the economic cost of urinary incontinence?
The estimated total economic cost in treating overactive bladder was 117 billion Korean Won (KRW, the currency of South Koea) in 2006 and 145 billion KRW in 2007. The estimated total cost in treating stress urinary incontinence was 122 billion KRW in 2006 and 59 billion KRW in 2007. The estimated total economic cost of OAB was 12.02 billion dollars in 2000, with 9.17 and 2.85 billion dollars incurred in the community and institutions, respectively. Community female and male OAB costs totaled 7.37 and 1.79 billion dollars, respectively. The estimated total cost was sensitive to the estimated prevalence of OAB; therefore, we calculated the average cost per community-dwelling person with OAB, which was 267 dollars per year. An estimated 1835628 community-dwelling women over the age of 18 years had urinary incontinence in 1998. The total annual cost of this urinary incontinence is estimated at $710.44 million, or $387 per incontinent woman, comprising $338.47 million in treatment costs and $371.97 million in personal costs. An estimated 60% of women with incontinence in 1998 were aged 40 years or over. Assuming the prevalence of incontinence remains constant and, allowing for inflation, we project that the total annual cost in 20 years' time will be $1267.85 million, 93% ($1.18 billion) of which will constitute costs associated with women aged over 40 years. For individuals 65 years of age and older these costs are substantial, increasing from $8.2 billion (1984 dollars) to $16.4 billion (1993 dollars). The 1995 societal cost of incontinence for individuals aged 65 years and older was $26.3 billion, or $3565 per individual with urinary incontinence.
1,291
[ 9510336, 22500250, 11183903, 12809878, 23369111, 24198618, 11386591 ]
What is the function of the protein calreticulin?
Calreticulin (CALR) is an endoplasmic reticulum (ER)-resident protein involved in a spectrum of cellular processes. In healthy cells, CALR operates as a chaperone and Ca2+ buffer to assist correct protein folding within the ER.
4,651
[ 34495528, 33360823, 32733014, 34472223 ]
Is DITPA a thyroid hormone analog utilized in experimental and clinical studies
There is very large body of evidence that DITPA is a true thyroid hormone analog, largely utilized in experimental and clinical studies.
124
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Could RG7112 be used as cancer therapy?
Yes, RG7112 has shown promising results in early phases of trials in cancer patients.
1,145
[ 21391905, 22753001, 23084521, 23400593, 24900694, 24812409, 24579771 ]
How many families did the 100,000 Genomes Pilot enrol?
The U.K. 100,000 Genomes Project is in the process of investigating the role of genome sequencing in patients with undiagnosed rare diseases after usual care and the alignment of this research with health care implementation in the U.K. National Health Service. Other parts of this project focus on patients with cancer and infection. A pilot study was conducted involving 4660 participants from 2183 families, among whom 161 disorders covering a broad spectrum of rare diseases were present.
4,318
[ 34758253 ]
Which random forest method has been developed for detecting Copy Numbers Variants (CNVs)?
CNV-RF Is a Random Forest-Based Copy Number Variation Detection Method Using Next-Generation Sequencing.
2,957
[ 27597741 ]
Which drug is benserazide usually co-administered with?
Co-administration of L-Dopa with carbidopa or benserazide is the most effective symptomatic treatment for Parkinson Disease (PD).
1,384
[ 10884518, 22384042, 11166288, 7737328, 17553556, 23390548, 17113046, 17141847, 2760634, 16023708, 15275774 ]
What do the trispecific HIV antibodies target?
Trispecific HIV antibodies (Abs) allow a single molecule to interact with three independent HIV-1 envelope determinants: the CD4 binding site, the membrane-proximal external region (MPER), and the V1V2 glycan site.
2,641
[ 28931639 ]
What is the indication for Mirabegron?
Mirabegron, the first 尾3-adrenoceptor agonist in clinical practice, is approved for treatment of overactive bladder (OAB) syndrome symptoms.
2,143
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Have the promoter regions of the genes implicated in Rett Syndrome been characterized with CAGE?
Yes. Promoter regions of the genes implicated in Rett Syndrome have been characterized using CAGE.
1,899
[ 25539566 ]
Which is the target of bortezomib used in cancer therapy?
Bortezomib is a potent and specific reversible ubiquitin/proteasome pathway inhibitor, which has shown strong in vitro antitumor activity as single agent and in combination with other cytotoxic drugs in a broad spectrum of hematological and solid malignancies.
1,168
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What is the function of the H19 (ICR) locus in the human genome?
We found that localized DNA demethylation at the H19 imprinting control region (ICR) induced by 5-AzaCdR, reduced IGF2, increased H19 expression, increased CTCF and cohesin recruitment and changed histone modifications.
2,353
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Are cardenolides inhibitors of Na+/K+ ATPase?
Yes, Cardenolides have shown significant antitumor activity due to their ability to inhibit the Na+K+ATPase enzyme, and the expression of this enzyme is increased in tumor cells.
3,210
[ 30372816, 29683473, 30053394 ]
Which is the localization of the RIFIN family of proteins?
Plasmodium falciparum rifin proteins are mainly surface-expressed. Data has shown that while A-type RIFINs were found to be associated with the parasite and transported to the surface of infected erythrocytes via Maurer's clefts, B-type RIFINs appeared to be mostly retained inside the parasite.
1,403
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