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Please list the 4 genes involved in Sanfilippo syndrome, also known as mucopolysaccharidosis III (MPS-III). | Mucopolysaccharidosis type III (MPS III, Sanfilippo syndrome) is a lysosomal storage disorder, caused by a deficiency in one of the four enzymes involved in the catabolism of glycosaminoglycan heparan sulfate. The genes are SGSH, NAGLU, HGSNAT or GNS. | Sanfilippo syndrome (mucopolysaccharidosis type III, MPS III) is a progressive
disorder in which patients are characterized by severe central nervous system
degeneration together with mild somatic disease. MPS III results from a
deficiency in one of the four enzymes involved in the heparan sulfate
degradation, with... |
What is CardioClassifier? | CardioClassifier (http://www.cardioclassifier.org) is a semiautomated decision support tool for clinical genome interpretation. CardioClassifier integrates data retrieved from multiple sources with user-input case-specific information, through an interactive interface, to support variant interpretation. CardioClassifie... | PURPOSE: Internationally adopted variant interpretation guidelines from the
American College of Medical Genetics and Genomics (ACMG) are generic and require
disease-specific refinement. Here we developed CardioClassifier (
http://www.cardioclassifier.org ), a semiautomated decision-support tool for
inherited cardia... |
List clinical disorders or diseases where uc.189 is involved? | Univariate and multivariate Cox regression analysis demonstrated that over-expression of uc.189 predicted poor prognosis in Cervical squamous cell carcinomas (CSCC) and Endometrial adenocarcinomas (EAC). Thus, several findings suggested uc.189 might be an evaluating prognosis marker of gynecological tumors. In addition... | |
Is verubecestat effective for Alzheimer’s Disease? | No. Verubecestat is not effective for treatment of Alzheimer’s Disease. | The amyloid hypothesis has long been the central dogma in drug discovery for
Alzheimer's disease (AD), leading to many small-molecule and biological drug
candidates. One major target has been the β-site
amyloid-precursor-protein-cleaving enzyme 1 (BACE-1), with many big pharma
companies expending great resources in... |
What is the role of metalloproteinase-17 (ADAM17) in NK cells? | The metalloproteinase-17 (ADAM17) is involved in CD16A cleavage and acts as a regulatory checkpoint in NK cells | TNF-alpha and its receptors TNFRI and TNFRII are cleaved from the surface of
leukocytes by a proteolytic process referred to as ectodomain shedding. The role
of a disintegrin and metalloproteinase 17 (ADAM17) in this process by the major
professional phagocytes neutrophils and macrophages, the primary producers of
... |
What is the triad of Melkersson-Rosenthal syndrome? | Melkersson-Rosenthal syndrome is an uncommon granulomatous disease characterized by the triad of relapsing facial paralysis, orofacial edema and fissured tongue. | Melkersson-Rosenthal syndrome is a rare condition, classically associated with a
triad of facial and/or lip edema, fissured tongue, and relapsing facial palsy.
This article offers a review of the literature and presents two cases of
Melkersson-Rosenthal syndrome associated with elevated serum levels of
angiotensin ... |
Is galcanezumab effective for treatment of migraine? | Yes. Galcanezumab is a humanized monoclonal antibody binding calcitonin gene-related peptide that is used for migraine prevention. | Conflict of interest statement: Conflict of Interest Disclosures: Drs
Skljarevski, Oakes, Zhang, Ferguson, Martinez, Camporeale, Johnson, Shan,
Carter, and Schacht are full-time employees of Eli Lilly and Company and/or one
of its subsidiaries, and are stockholders. Dr Goadsby reports receiving
consultant fees from... |
Can mitochondria be inherited by both parents in humans? | Yes. A comprehensive exploration of mtDNA segregation in certain families shows biparental mtDNA transmission with an autosomal dominant-like inheritance mode. Although the central dogma of maternal inheritance of mtDNA remains valid, there are some exceptional cases where paternal mtDNA could be passed to the offsprin... | Although there has been considerable debate about whether paternal mitochondrial
DNA (mtDNA) transmission may coexist with maternal transmission of mtDNA, it is
generally believed that mitochondria and mtDNA are exclusively maternally
inherited in humans. Here, we identified three unrelated multigeneration
families... |
Can Diazepam be beneficial in the treatment of traumatic brain injury? | Diazepam treatment improved cognitive recovery and mortality in brain injured rats. | Glutamate-mediated excitotoxicity has been shown to contribute to cellular
dysfunction following traumatic brain injury (TBI). Increasing inhibitory
function through stimulation of gamma-aminobutyric acid (GABA(A)) receptors may
attenuate excitotoxic effects and improve outcome. The present experiment
examined the ... |
Name the algorithms for counting multi-mapping reads | RNA-Seq is currently used routinely, and it provides accurate information on gene transcription. However, the method cannot accurately estimate duplicated genes expression. Several strategies have been previously used (drop duplicated genes, distribute uniformly the reads, or estimate expression), but all of them provi... | BACKGROUND: RNA-Seq is currently used routinely, and it provides accurate
information on gene transcription. However, the method cannot accurately
estimate duplicated genes expression. Several strategies have been previously
used (drop duplicated genes, distribute uniformly the reads, or estimate
expression), but a... |
In clinical trials, the H3 R antagonist CEP-26401 has a positive effect on cognition, yes or no? | The H3 R antagonist CEP-26401 had an effect on cognition. | CEP-26401 is a novel orally active, brain-penetrant, high-affinity histamine H3
receptor (H3R) antagonist, with potential therapeutic utility in cognition
enhancement. Two randomized, double-blind, placebo-controlled dose escalation
studies with single (0.02 to 5 mg) or multiple administration (0.02 to 0.5 mg
once ... |
Fecal transplantation is used to treat infection with what bacteria? | Fecal microbiota transplantation is used to treat Clostridium difficile infection | Fecal microbiota transplantation (FMT) is becoming a more widely used technology
for treatment of recurrent Clostridum difficile infection (CDI). While previous
treatments used fresh fecal slurries as a source of microbiota for FMT, we
recently reported the successful use of standardized, partially purified and
fro... |
Is pimavanserin effective for Parkinson's disease psychosis? | Yes. Pimavanserin is effective for treating Parkinson's disease psychosis. It is a highly selective serotonin 5-HT2A receptor inverse agonist/antagonist. | BACKGROUND: Parkinson's disease psychosis, which includes hallucinations and
delusions, is frequent and debilitating in people with Parkinson's disease. We
aimed to assess safety and efficacy of pimavanserin, a selective serotonin
5-HT2A inverse agonist, in this population.
METHODS: In our 6 week, randomised, double... |
When did delafloxacin receive its first approval in the USA for acute bacterial skin and skin structure infections? | Delafoxacin received approval in the USA for the treatment of acute bacterial skin and skin structure infections in 2017. | Delafloxacin (Baxdela™) is a fluoroquinolone antibacterial with activity against
both gram-positive and gram-negative pathogens being developed by Melinta
Therapeutics. The drug is being investigated or considered as a treatment for
various bacterial infections and in June 2017 received approval in the USA for
the ... |
Erenumab, used to treat migraine headaches, binds to what protein? | Erenumab binds to the CGRP receptor to treat migraine headaches | Monoclonal antibodies (mAbs) targeting calcitonin gene-related peptide (CGRP)
signaling are being explored as prophylactic treatments for migraine. Erenumab
(AMG 334) is the first potent, selective, and competitive human mAb antagonist
of the CGRP receptor. We report the data from two phase I studies assessing the
... |
What are the CADD scores? | Combined Annotation-Dependent Depletion (CADD) is a widely used measure of variant deleteriousness that can effectively prioritize causal variants in genetic analyses, particularly highly penetrant contributors to severe Mendelian disorders. CADD is an integrative annotation built from more than 60 genomic features, an... | Next-generation sequencing in clinical diagnostics is providing valuable genomic
variant data, which can be used to support healthcare decisions. In silico tools
to predict pathogenicity are crucial to assess such variants and we have
evaluated a new tool, Combined Annotation Dependent Depletion (CADD), and its
cla... |
What is a prolactinoma and where in the body would they be found? | Prolactinomas are the most common functional tumors of the pituitary gland. | Prolactinoma is the most common type of primary pituitary tumors. It occurs more
frequently in women than in men. Dopaminergic agonists are effective in the
shrinkage of prolactin-secreting pituitary tumor and are preferred in some
patients. However, pituitary radiotherapy may enable the long-term removal of
prolac... |
Which integrin genes are activated by the immune system in inflammatory bowel disease? | ITGA4, ITGB8, ITGAL and ICAM1. In all four cases, the expression-increasing allele also increases disease risk. | Author information:
(1)Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, UK.
(2)Inflammatory Bowel Disease Research Group, Addenbrooke's Hospital, Cambridge,
UK.
(3)Institute of Cellular Medicine, Newcastle University, Newcastle upon Tyne.
(4)Division of Genetics and Rheumatology, Brigham and Wom... |
Which is the database of somatic mutations in normal cells? | DSMNC is a database of somatic mutations in normal cells (http://dsmnc.big.ac.cn/) and provides a comprehensive catalogue of somatic SNVs in single cells from various normal tissues. In the current version, the database collected ∼0.8 million SNVs accumulated in ∼600 single normal cells (579 human cells and 39 mouse ce... | |
Which drugs are included in the Lonsurf pill? | Lunsurf pill includes trifluridine and tipiracil. It is a novel form of chemotherapy for metastatic colorectal cancer. | Evolocumab (Repatha) for patients with hypercholesterolemia whose condition has
not been controlled by statins and other therapies; trifluridine/tipiracil
(Lonsurf) for metastatic colorectal cancer; and blood coagulation factor VIII
(Nuwiq) for adults and children with hemophilia A. Within the past several years, no... |
What is the association of epigallocatechin with the cardiovascular system? | The compound epigallocatechin-3-gallate (EGCG), the major polyphenolic compound present in green tea [Camellia sinensis (Theaceae], has shown numerous cardiovascular health promoting activity through modulating various pathways. EGCG was found to exhibit a wide range of therapeutic properties. | Reactive oxygen species (ROS) in the brain are involved in the pathogenesis of
hypertension. Epigallocatechin-3-O-gallate (EGCG), one of the active compounds
in green tea, has anti-oxidant, anti-inflammatory and vascular protective
properties. This study was designed to determine whether chronic infusion of
EGCG in... |
What is the mechanism of action of tucatinib? | Tucatinib is an oral, potent, human epidermal growth factor receptor 2 (HER2)-specific tyrosine kinase inhibitor (TKI) being developed as a novel treatment for ERBB2/HER2-positive breast cancer. | Approximately 50% of patients with advanced human epidermal growth factor 2
(HER2)-positive breast cancer and triple-negative breast cancer (TNBC)
ultimately develop breast cancer brain metastases (BCBM), which are associated
with significant morbidity and mortality. The advent of HER2-directed therapy
resulted in ... |
Which enzyme is inhibited by a drug Lorlatinib? | Lorlatinib is anaplastic lymphoma kinase inhibitor. | Lorlatinib (PF-06463922) is a next-generation small-molecule inhibitor of the
orphan receptor tyrosine kinase c-ros oncogene 1 (ROS1), which has a kinase
domain that is physiologically related to anaplastic lymphoma kinase (ALK), and
is undergoing Phase I/II clinical trial investigations for non-small cell lung
can... |
What periodontal disease associated bacteria is also associated with Alzheimer's disease? | Porphyromonas gingivalis, a keystone pathogen in chronic periodontitis, has been found to associate with remote body organ inflammatory pathologies, including atherosclerosis and Alzheimer's disease (AD). | BACKGROUND: Chronic inflammation in periodontal disease has been suggested as a
potential risk factor in Alzheimer's disease (AD). The purpose of this study was
to examine serum antibody levels to bacteria of periodontal disease in
participants who eventually converted to AD compared with the antibody levels in
con... |
Is deletion at 6q24.2-26 associated with longer survival of patients with high-grade serous ovarian carcinoma (HGSOCs)? | Yes. Loss at 6q24.2-26 was significantly associated with the cluster of longer survival independently from other confounding factors. The prognostic value of this deletion was validated in two independent series, one consisting of 36 HGSOCs analyzed by fluorescent in situ hybridization (P = 0.04) and another comprised ... | Author information:
(1)Human Genetics Group, Spanish National Cancer Research Center (CNIO), C/
Melchor Fernández Almagro 3, 28029, Madrid, Spain.
(2)Structural Computational Biology Group, Spanish National Cancer Research
Center (CNIO), C/ Melchor Fernández Almagro 3 28029, Madrid, Spain.
(3)Cancer Epidemiology Cent... |
How does the Cholera toxin enter a cell? | Cholera toxin (CT), which is secreted by V. cholerae, can enter host cells by binding to GM1, a monosialoganglioside widely distributed on the plasma membrane surface of various animal epithelial cells. | Cholera is an acute diarrheal disease caused by infection in the
gastrointestinal tract by the gram-negative bacterium, Vibrio cholerae, and is a
serious public health threat worldwide. There has not been any effective
treatment for this infectious disease. Cholera toxin (CT), which is secreted by
V. cholerae, can ... |
Describe the mechanism of action of Lurbinectedin. | Lurbinectedin is a novel highly selective inhibitor of RNA polymerase II triggering caspase-dependent apoptosis of cancerous cells. It inhibits active transcription of protein-coding genes, causing DNA-break accumulation, apoptosis and modulation of the tumor microenvironment. | BACKGROUND AND OBJECTIVES: Lurbinectedin is an inhibitor of RNA polymerase II
currently under clinical development for intravenous administration as a single
agent and in combination with other anti-tumor agents for the treatment of
several tumor types. The objective of this work was to develop a
population-pharmac... |
Can mogamulizumab be used for the treatment of cutaneous T-cell lymphoma? | Yes, mogamulizumab can be used for the treatment of cutaneous T-cell lymphoma. | In the large international phase III MAVORIC trial, patients with previously
treated cutaneous T-cell lymphoma who received the anti-CCR4 monoclonal antibody
mogamulizumab experienced significantly longer progression-free survival and
higher response rates, as well as better quality of life, than those who
received... |
Which enzymes are inhibited by Duvelisib? | Duvelisib is an oral dual inhibitor of phosphoinositide 3-kinase-δ (PI3K-δ) and PI3K-γ in late-stage clinical development for hematologic malignancy treatment. | Pharmacological inhibition of phosphatiylinositide-3-kinase (PI3K)-mediated
signaling holds great promise for treating chronic lymphocytic leukemia (CLL).
Therefore we assessed three structurally related PI3K inhibitors targeting the
PI3K-δ isoform for their ability to inhibit the survival of freshly isolated CLL
c... |
List search engines used in proteomics. | Mascot
X!Tandem
MS-GF
MS Amanda
MyriMatch
Comet
Tide
Andromeda
OMSSA | |
Is avelumab effective for bladder cancer? | Yes, avelumab is effective treatment of bladder cancer. | The treatment of bladder cancer has evolved over time to encompass not only the
traditional modalities of chemotherapy and surgery, but has been particularly
impacted by the use of immunotherapy. The first immunotherapy was the live,
attenuated bacterial Bacillus Calmette-Guérin vaccine, which has been the
standard... |
Is cabozantinib effective for Hepatocellular Carcinoma? | Yes, cabozantinib is approved as second line agent for treatment of Hepatocellular Carcinoma. | PURPOSE: MET signaling has been suggested a potential role in hepatocellular
carcinoma (HCC) and associated with prometastasis during antiangiogenesis
therapy. We investigated the potential association between MET expression and
therapeutic response to sorafenib in patients with HCC. Antitumor effects of
cabozantin... |
De novo mutations in which novel genes are involved in systemic lupus erythematosus? | DNMT3A, PRKCD, and C1QTNF4. | The omnigenic model of complex disease stipulates that the majority of the
heritability will be explained by the effects of common variation on genes in
the periphery of core disease pathways. Rare variant associations, expected to
explain far less of the heritability, may be enriched in core disease genes and
thus... |
Is there a link between BCL11B haploinsufficiency and syndromic neurodevelopmental delay? | No. Mutations leading either to BCL11B haploinsufficiency or to a truncated BCL11B protein clinically cause a non-syndromic neurodevelopmental delay. | |
What is the mechanism of action of motolimod? | Motolimod is the toll-like receptor 8 (TLR8) agonist that stimulates innate and adaptive immunity. | PURPOSE: Immunotherapy as a treatment for cancer holds the promise of complete
and durable tumor remission, yet the immunosuppressive environment created by
many tumors, advanced patient age, and previous treatments with cytotoxic agents
may limit the approach. The activity of motolimod (VTX-2337), a potent and
sel... |
Is Lasmiditan effective for migraine? | Yes, Lasmiditan is effective for treatment of migraine. This has been demonstrated in clinical trials. | INTRODUCTION: Lasmiditan (COL-144; LY573144) is a novel, highly selective and
potent agonist at 5-HT(1F) receptors that lacks vasoconstrictor activity.
Preclinical and early clinical experiments predict acute antimigraine efficacy
of COL-144 that is mediated through a non-vascular, primarily neural, mechanism.
SUBJE... |
List drugs included in the TRIUMEQ pill. | Triumeq is a single-tablet regimen for patients with HIV infection comprising dolutegravir, abacavir and lamivudine. | We report this case to highlight the possibility of a severe hypersensitivity
reaction as an important potential consequence of couples, living with HIV,
sharing anti-retroviral treatment. An HIV-1 positive and carrier of HLA-B*57:01
allele, treatment experienced man was commenced one pill Regimen Stribild
(tenofov... |
Are there graph kernel libraries available implemented in JAVA? | No. Measuring the similarity of graphs is a fundamental step in the analysis of graph-structured data, which is omnipresent in computational biology. Graph kernels have been proposed as a powerful and efficient approach to this problem of graph comparison. Graphkernels are the first R and Python graph kernel libraries ... | SUMMARY: Measuring the similarity of graphs is a fundamental step in the
analysis of graph-structured data, which is omnipresent in computational
biology. Graph kernels have been proposed as a powerful and efficient approach
to this problem of graph comparison. Here we provide graphkernels, the first R
and Python g... |
What organism causes hepatic capillariasis? | Hepatic capillariasis is a rare and neglected parasitic disease caused by infection with Capillaria hepatica in human liver. | Capillaria hepatica (C. hepatica) is a parasitic nematode causing hepatic
capillariasis in numerous mammals. Ecologic studies showed that the first hosts
of C. hepatica were rodents, among which rats had relatively high infection
rates, which explains why C. hepatica spreads globally. Anatomical studies
showed that... |
Cerliponase alfa is apprived for treatment of which disease? | Cerliponase alfa is a recombinant human tripeptidyl peptidase-1 (TPP1) approved for use in patients with neuronal ceroid lipofuscinosis type 2 (CLN2), a paediatric neurodegenerative disease caused by a deficiency in TPP1. | Cerliponase alfa (Brineura™) is a recombit human tripeptidyl peptidase-1
(TPP1) being developed by BioMarin Pharmaceutical Inc. for use in patients with
neuronal ceroid lipofuscinosis type 2 (CLN2), a paediatric neurodegenerative
disease caused by a deficiency in TPP1. CLN2 is characterised by progressive
impairmen... |
Is baricitinib effective for rheumatoid arthritis? | Yes, baricitinib is effective treatment of rheumatoid arthritis. | INTRODUCTION: The JAK kinases are a family of four tyrosine receptor kinases
that play a pivotal role in cytokine receptor signalling pathways via their
interaction with signal transducers and activators of transcription proteins.
Selective inhibitors of JAK kinases are viewed as of considerable potential as
diseas... |
What is the function of PARP1? | parp1 is the most abundant and best-characterized member of the family of parp enzymes. the poly(adp-ribose) polymerases (parps) catalyze poly(adp-ribosyl)ation, a post-translational modification of proteins. | Asbestos is known to induce maligt mesothelioma (MM) and other
asbestos-related diseases. It is directly genotoxic by inducing DNA strand
breaks and cytotoxic by promoting apoptosis in lung target cells.
Poly(ADP-ribose) polymerase-1 (PARP1) is a nuclear zinc-finger protein with a
function as a DNA damage sensor. T... |
Is Semagacestat effective for treatment of Alzheimer's disease? | No. In clinical trial semagacestat did not improve cognitive status, and patients receiving the higher dose had significant worsening of functional ability. Semagacestat was associated with more adverse events, including skin cancers and infections. | The recent failure of semagacestat in two large Phase III studies questions the
value of γ-secretase inhibitors in treating Alzheimer's disease. Understanding
the reasons of this setback may be important for the future research on
effective treatments for this devastating disease. Neurological and psychiatric disor... |
Which molecule is inhibited by ivosidenib? | Ivosidenib (AG-120) is an oral, targeted, small-molecule inhibitor of mutant IDH1. It used an effective treatment of leukemia. | PURPOSE OF REVIEW: Hypomethylating agents (HMAs) are the standard of care for
patients with myelodysplastic syndromes (MDS). Although these agents induce
responses in up to 40% of patients, most patients ultimately experience loss of
response. The purpose of this review is to provide an overview of the different
th... |
What is COG112? | COG112 is a a modified apoE-mimetic peptide, that results from the fusion of COG133 to a protein transduction domain. COG112 has significantly enhanced anti-inflammatory bioactivities in vitro. | |
List the four advances integrated into the SHERLOCKv2 platform. | SHERLOCKv2 presents with four distinct advances: (i) four-channel single-reaction multiplexing with orthogonal CRISPR enzymes; (ii) quantitative measurement of input as low as 2 attomolar; (iii) 3.5-fold increase in signal sensitivity by combining Cas13 with Csm6, an auxiliary CRISPR-associated enzyme; and (iv) lateral... | Rapid detection of nucleic acids is integral for clinical diagnostics and
biotechnological applications. We recently developed a platform termed SHERLOCK
(specific high-sensitivity enzymatic reporter unlocking) that combines
isothermal preamplification with Cas13 to detect single molecules of RNA or DNA.
Through ch... |
Does Rhamnose have any effect on aging? | Yes, Rhamnose does have an effect on aging. | Skin is the most voluminous organ of the body. It assumes several important
physiological functions and represents also a "social interface" between an
individual and other members of society. This is the main reason its
age-dependent modifications are in the forefront of dermatological research and
of the "anti-ag... |
Is there any approved treatment for NAFLD? | No,
Nonalcoholic fatty liver disease (NAFLD) is the most prevalent liver disease worldwide, and there is no approved pharmacotherapy. | Non-alcoholic fatty liver disease (NAFLD) has become one of the most prominent
forms of chronic liver disease worldwide, reflecting the epidemic of global
obesity. Those with the progressive variant of NAFLD, non-alcoholic
steatohepatitis (NASH), are at significantly increased risk of multisystem
morbidity and mort... |
Can pazopanib be used for treatment von Hippel-Lindau disease? | Yes, pazopanib is used for treatment von Hippel-Lindau disease. | Hemangioblastoma is a rare benign neoplasm, accounting for less than 2% of all
primitive brain tumors. It may arise sporadically in a solitary form, or
associated with Von Hippel-Lindau (VHL) disease with multiple tumors. Surgery is
the mainstay treatment, but management is challenging in case of recurrent
and/or m... |
Which ploidy-agnostic method has been developed for estimating telomere length from whole genome sequencing data? | Telomerecat is a ploidy-agnostic method for estimating telomere length from whole genome sequencing data. Previous methods have been dependent on the number of telomeres present in a cell being known, which may be problematic when analysing aneuploid cancer data and non-human samples. Telomerecat is designed to be agno... | |
What happens to retrotransposons during ageing? | Retrotransposons are activated as organisms age | Cellular senescence, an irreversible growth arrest triggered by a variety of
stressors, plays important roles in normal physiology and tumor suppression, but
accumulation of senescent cells with age contributes to the functional decline
of tissues. Senescent cells undergo dramatic alterations to their chromatin
lan... |
What is the function of Taraxasterol in rheumatoid arthritis? | Taraxasterol suppresses inflammation in rheumatoid arthritis. | Taraxasterol is an effective component of dandelion that has anti-inflammatory
effects in vivo and in vitro. The present study was performed to explore whether
taraxasterol exhibits a protective effect against rheumatoid arthritis through
the modulation of inflammatory responses in mice. Eight-week-old CCR9-deficien... |
Is Netrin-1 a secreted protein? | Yes,
netrin-1 is a secreted protein. | Netrins are a family of secreted protein related to laminin and act as tropic
cues directing axon growth and cell migration during neural development.
Netrin-4 is a novel member of netrin family recently identified in the
vertebrate with neuritis elongation promoting activity; however, the receptors
for netrin-4 ar... |
Which enzyme is deficient in Wolman disease? | Deficiency of lysosomal acid lipase (LAL) causes Wolman disease. | Previous studies have shown that cultured fibroblasts derived from patients with
genetic defects in lysosomal acid lipase (i. e. the Wolman Syndrome and
Cholesteryl Ester Storage Disease) are defective in their ability to hydrolyze
the cholesteryl esters contained in plasma low density lipoprotein (LDL). As a
resul... |
Is the yeast (Saccharomyces cerevisiae) genome organized into topologically associated domains (TADs)? | Yes. By analyzing Hi-C data for budding yeast, 200-kb scale topologically associated domains (TADs) have been identified, whose boundaries are enriched for transcriptional activity. | The genome of metazoan cells is organized into topologically associating domains
(TADs) that have similar histone modifications, transcription level, and DNA
replication timing. Although similar structures appear to be conserved in
fission yeast, computational modeling and analysis of high-throughput chromosome
con... |
What is MOV10? | MOV10 is an RNA helicase | BACKGROUND: Mov10 is an RNA helicase that modulates access of Argonaute 2 to
microRNA recognition elements in mRNAs. We examined the role of Mov10 in Xenopus
laevis development and show a critical role for Mov10 in gastrulation and in the
development of the central nervous system (CNS).
RESULTS: Knockdown of materna... |
As of Feb 2019, are major brain gangliosides a target for the treatment of Alzheimer's disease? | As of Feb 2019, major brain gangliosides are proposed as a target for the treatment of Alzheimer's disease. | Gangliosides are glycosphingolipids localized to the outer leaflet of the plasma
membrane of vertebrate cells. The highest ganglioside concentration of any organ
is found in the mammalian brain, where the gangliosides are enriched in the
neuronal membrane, particularly in the synapses. There are four major brain
ga... |
Which cancer is associated with increased levels of Serum alpha fetoprotein (AFP) ? | Serum alpha fetoprotein (AFP) is a marker of germ cell neoplasms,
Serum α-Fetoprotein (AFP) is a widely used diagnostic biomarker, but it has limited sensitivity and is not elevated in all HCC cases. | Advanced hepatocellular carcinoma (HCC) has limited treatment options and poor
survival, therefore early detection is critical to improving the survival of
patients with HCC. Current guidelines for high-risk patients include ultrasound
screenings every six months, but ultrasounds are operator dependent and not
sens... |
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. | Profilin is a conserved actin-monomer-binding protein which is found in all
eukaryotes, including yeast. Although amino acid sequence analysis and RNase
protection analysis suggest a single profilin isoform in mammalian cells,
Southern blot analysis of human and somatic cell hybrid DNA indicates several
loci in the... |
List clinical symptoms of the MECOM-associated syndrome | Heterozygous mutations in MECOM (MDS1 and EVI1 complex locus) have been reported to be causative of a rare association of congenital amegakaryocytic thrombocytopenia and radioulnar synostosis. The clinical picture included radioulnar synostosis, bone marrow failure, clinodactyly, cardiac and renal malformations, B-cell... | Heterozygous mutations in MECOM (MDS1 and EVI1 complex locus) have been reported
to be causative of a rare association of congenital amegakaryocytic
thrombocytopenia and radioulnar synostosis. Here we report on 12 patients with
congenital hypomegakaryocytic thrombocytopenia caused by MECOM mutations
(including 10 n... |
Does the interaction of MOV10 and RNASEH2 promote L1 retrotransposition? | MOV10 interacts with RNASEH2, and their interplay is crucial for restricting L1 retrotransposition. | Long interspersed nuclear element 1 is an autonomous non-long terminal repeat
retrotransposon that comprises ∼17% of the human genome. Its spontaneous
retrotransposition and the accumulation of heritable L1 insertions can
potentially result in genome instability and sporadic disorders. Moloney
leukemia virus 10 hom... |
What is the role of CD28 with respect to bacterial superantigen toxins? | CD28 is a direct receptor of bacterial superantigen toxins. | Bacterial superantigens, a diverse family of toxins, induce an inflammatory
cytokine storm that can lead to lethal shock. CD28 is a homodimer expressed on T
cells that functions as the principal costimulatory ligand in the immune
response through an interaction with its B7 coligands, yet we show here that to
elicit... |
What is the exoproteome? | Exoproteomics aims at describing and quantifying the proteins found outside of the cells. | Pathogens are known to release in their environment a large range of toxins and
other virulence factors. Their pathogenicity relies on this arsenal of
exoproteins and their orchestrated release upon changing environmental
conditions. Exoproteomics aims at describing and quantifying the proteins found
outside of the... |
List features of the Triple A syndrome. | Triple A (Allgrove) syndrome is a rare autosomal recessive disorder characterized by cardinal features of adrenal insufficiency, achalasia, and alacrimia. It is frequently associated with neurological manifestations like polyneuropathy. | The triple A syndrome or Allgrove syndrome (MIM*231550) is characterized by
adrenocorticotropic hormone (ACTH) resistant Adrenal insufficiency, Achalasia of
the cardia and Alacrima. In addition to the main features, patients frequently
suffer from neurological disturbances. Dermatological abnormalities such as
palm... |
What is the mechanism of the drug CRT0066101? | Recently developed small molecule PKD inhibitors, CID755673 and CRT0066101, provide potentially important pharmacological approaches to further investigate the effect of PKD in pancreatitis therapy | Invasive ductal carcinomas (IDC) of the breast are associated with altered
expression of hormone receptors (HR), amplification or overexpression of HER2,
or a triple-negative phenotype. The most aggressive cases of IDC are
characterized by a high proliferation rate, a great propensity to metastasize,
and their abil... |
Which protein is the Mitochondrial carrier homolog 2 (MTCH2) receptor for? | Mitochondrial Carrier Homolog 2 (MTCH2) acts as a receptor for the BH3 interacting-domain death agonist (BID) in the mitochondrial outer membrane. | BID, a proapoptotic BCL-2 family member, plays an essential role in the tumor
necrosis factor alpha (TNF-alpha)/Fas death receptor pathway in vivo. Activation
of the TNF-R1 receptor results in the cleavage of BID into truncated BID (tBID),
which translocates to the mitochondria and induces the activation of BAX or B... |
What is PhenomeCentral? | The discovery of disease-causing mutations typically requires confirmation of the variant or gene in multiple unrelated individuals, and a large number of rare genetic diseases remain unsolved due to difficulty identifying second families. The PhenomeCentral portal (https://phenomecentral.org) enables the secure sharin... | The discovery of disease-causing mutations typically requires confirmation of
the variant or gene in multiple unrelated individuals, and a large number of
rare genetic diseases remain unsolved due to difficulty identifying second
families. To enable the secure sharing of case records by clinicians and rare
disease ... |
What organism causes Rhombencephalitis? | Rhombencephalitis caused by Listeria monocytogenes | We report a case of Listeria rhombencephalitis in a previously healthy
60-year-old man. Listeria rhombencephalitis is a rare but well-defined clinical
syndrome of lower brain-stem involvement caused by Listeria monocytogenes.
Contrary to other listerioses, rhombencephalitis has been mainly observed in
patients with... |
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. | RhoGDIα is a key regulator of Rho proteins, coordinating their GTP/GDP and
membrane/cytosol cycle. Recently, it was demonstrated by quantitative mass
spectrometry that RhoGDIα is heavily targeted by post-translational lysine
acetylation. For one site in its N-terminal domain, namely K52, we reported
earlier that ac... |
Which receptor is targeted by Erenumab? | Erenumab is a human monoclonal antibody that inhibits the calcitonin gene-related peptide receptor, is being evaluated for migraine prevention. | BACKGROUND: The calcitonin gene-related peptide (CGRP) pathway is important in
migraine pathophysiology. We assessed the efficacy and safety of erenumab, a
fully human monoclonal antibody against the CGRP receptor, in patients with
chronic migraine.
METHODS: This was a phase 2, randomised, double-blind, placebo-cont... |
Are recessive coding variants responsible for the majority of undiagnosed nonconsanguineous individuals? | No. It is suggested that recessive coding variants account for a small fraction of currently undiagnosed nonconsanguineous individuals, and that the role of noncoding variants, incomplete penetrance, and polygenic mechanisms need further exploration. | Author information:
(1)Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, UK.
hcm@sanger.ac.uk jeff.barrett@genomicsplc.com.
(2)Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, UK.
(3)Great Ormond Street Hospital for Children, National Health Service (NHS)
Foundation Trust,... |
How can super-enhancers be used in disease diagnosis? | Super-enhancers are clusters of transcriptional enhancers that drive cell-type-specific gene expression and are crucial to cell identity. Many disease-associated sequence variations are enriched in super-enhancer regions of disease-relevant cell types. Thus, super-enhancers can be used as potential biomarkers for disea... | |
List sirtuin inhibitors. | Sirtinol
nicotinamide (NAM)
LC-0296
BZD9L1 | Lysine acetylation is a protein posttranslational modification (PTM) that occurs
on thousands of lysine residues in diverse organisms from bacteria to humans.
Accurate measurement of acetylation stoichiometry on a proteome-wide scale
remains challenging. Most methods employ a comparison of chemically acetylated
pep... |
Is the NLM medical text indexer (MTI) still useful and relevant? | Yes. The NLM Medical Text Indexer (MTI) is still relevant and useful, and needs to be improved and expanded. The BioASQ Challenge results have shown that more machine learning needs to be incorporated into MTI while still retaining the indexing rules that have earned MTI the indexers' trust over the years. MTI also nee... | BACKGROUND: Facing a growing workload and dwindling resources, the US National
Library of Medicine (NLM) created the Indexing Initiative project in 1996. This
cross-library team's mission is to explore indexing methodologies for ensuring
quality and currency of NLM document collections. The NLM Medical Text Indexer ... |
Has strimvelis been approved by the European Medicines Agency? | Yes, the gene therapy Strimvelis has been approved by the European Medicines Agency. | BACKGROUND: Strimvelis (autologous CD34+ cells transduced to express adenosine
deaminase [ADA]) is the first ex vivo stem cell gene therapy approved by the
European Medicines Agency (EMA), indicated as a single treatment for patients
with ADA-severe combined immunodeficiency (ADA-SCID) who lack a suitable matched
r... |
What antibiotic is currently used as the standard of care for Clostridium Difficile infection as of 2018 | fidaxomicin has recently been introduced as a new antibiotic that has been shown to significantly reduce the recurrence of this infection. fidaxomicin is a new antibiotic used to treat clostridium difficile infection (cdi). | Recurrences of Clostridium difficile infections lead to hospital readmissions
and high costs, in addition to the suffering and frustration for the patients.
Fidaxomicin has recently been introduced as a new antibiotic that has been shown
to significantly reduce the recurrence of this infection. Despite this
superio... |
Which proteins are markers of HPV oncogenic activity? | p16INK4a (p16) tumor-suppressor protein is a biomarker of human papillomavirus (HPV) oncogenic activity that has revealed a high rate of positivity in histological high-gade squamous intraepithelial lesion/cervical intraepithelial neoplasia grade 2 (HSIL/CIN2) lesions. | Overexpression of p16(INK4a) has been observed when retinoblastoma protein is
inactivated by high-risk human papillomavirus (HPV) oncoprotein E7. We
investigated overexpression of p16(INK4a) and HPV infection in cervical squamous
neoplasia to evaluate the oncogenic potential among various HPV subtypes. The
high-ris... |
Which features are evaluated with the CRAFFT screening test? | The CRAFFT (Car, Relax, Alone, Forget, Friends, Trouble) was developed as a brief screening instrument for adolescents to measure Alcohol and other substance use disorders. | INTRODUCTION: Substance use and abuse and their consequences are a major problem
among adolescents. The screening for problematic alcohol and substance use,
abuse and dependence should be part of the case-taking process for adolescents.
The Problem Oriented Screening Instrument for Teenagers (POSIT) and the Car,
Re... |
Describe the bartender algorithm | Barcode sequencing (bar-seq) is a high-throughput, and cost effective method to assay large numbers of cell lineages or genotypes in complex cell pools. Because of its advantages, applications for bar-seq are quickly growing-from using neutral random barcodes to study the evolution of microbes or cancer, to using pseud... | |
Which was the first gene therapy to receive marketing authorization in the European Union? | The first gene therapy to receive marketing authorization in the European Union was Glybera (alipogene tiparvovec). | |
Is treatment with Bacillus Calmette Guerin used for bladder cancer? | Intravesical Bacillus Calmette-Guerin (BCG) is the best treatment modality for progression of non-muscle invasive bladder cancer. | It has been established that the urothelial mucin layer functions as a bacterial
anti-adherence factor. Intravesical Bacillus Calmette-Guerin is used to treat
patients with superficial bladder cancer. The proposed mechanism of action of
Bacillus Calmette-Guerin is adherence to the urothelium with induction of an
im... |
List lymphocytes that are analyzed by a flow cytometer. | Quantitation of lymphocyte subsets (B cells, T cells, CD4 and CD8 T cells and NK cells) classically relies on quantitation of lymphocytes and immunophenotyping by flow cytometry. | AIMS: Thermal ablation can evoke an immune response, which may have effects on
the prognosis of patients with hepatocellular carcinoma (HCC). Our aim is to
investigate the changes of circulating T-cell subsets after microwave ablation
(MWA) and to explore the risk factors of tumor recurrence in patients with
hepati... |
List two drugs that are included in the Akynzeo pill? | Akynzeo is an oral fixed combination of netupitant and palonosetron that is available for use in the prevention of acute and delayed chemotherapy-induced nausea and vomiting (CINV). | Ledipasvir/sofosbuvir (Harvoni) for hepatitis C virus genotype 1 infection;
dulaglutide (Trulicity) for glycemic control in type-2 diabetes;
netupitant/palonosetron (Akynzeo) for prevention of nausea and vomiting related
to chemotherapy; and naloxegol (Movantik) for opioid-induced constipation in
patients with chro... |
Describe CapSim | CapSim is a software package for simulation of targeted capture sequencing. Given a genome sequence and a set of probes, CapSim simulates the fragmentation, the dynamics of probe hybridization and the sequencing of the captured fragments on Illumina and PacBio sequencing platforms. The simulated data can be used for ev... | |
Which company produces Glybera? | Glybera is a product of Chiesi Pharma. | |
What is the mode of action of Tetrocarcin-A? | The anti-tumor antibiotic, tetrocarcin A, directly induces apoptosis of human breast cancer cells. | PURPOSE: Bcl-2, an inhibitor of apoptosis frequently shows elevated expression
in human tumors, thus resulting in resistance to radiation therapy. Therefore,
inhibiting Bcl-2 function may enhance the radiosensitivity of tumor cells.
Tetrocarcin A (TC-A) and bcl-2 antisense oligonucleotides exhibit antitumor
activit... |
List some substances important for proper nervous system function that gut microbes produce. | serotonin
gamma-aminobutyric acid
short-chain fatty acids
neurotransmitters | The gut microbiome is being more widely recognized for its association with
positive health outcomes, including those distant to the gastrointestinal
system. This has given the ability to maintain and restore microbial homeostasis
a new significance. Prebiotic compounds are appealing for this purpose as they
are ge... |
Safinamide is approved for treatment of which disease? | Safinamide is a monoamine-oxidase B (MAO-B) inhibitor licensed as add-on therapy for people with idiopathic Parkinson's disease who are experiencing motor fluctuations with levodopa. | Safinamide (Xadago(®)) is an oral α-aminoamide derivative developed by Newron
for the treatment of Parkinson's disease (PD). The drug has both dopaminergic
properties (highly selective and reversible inhibition of monoamine oxidase-B)
and non-dopaminergic properties (selective sodium channel blockade and calcium
ch... |
What is the tradename of apixaban? | The tradename of apixaban is Eliquis. | The direct factor Xa inhibitor apixaban (Eliquis(®)) has predictable
pharmacodynamics and pharmacokinetics and does not require routine
anticoagulation monitoring. This article reviews the efficacy and tolerability
of oral apixaban to reduce the risk of stroke or systemic embolism in patients
with nonvalvular atria... |
Under which environment does SELANSI run? | SELANSI (SEmi-LAgrangian SImulation of GRNs) is a software toolbox for the simulation of stochastic multidimensional gene regulatory networks. SELANSI exploits intrinsic structural properties of gene regulatory networks to accurately approximate the corresponding Chemical Master Equation with a partial integral differe... | MOTIVATION: Gene regulation is inherently stochastic. In many applications
concerning Systems and Synthetic Biology such as the reverse engineering and the
de novo design of genetic circuits, stochastic effects (yet potentially crucial)
are often neglected due to the high computational cost of stochastic
simulation... |
Is eculizumab used for treatment of myasthenia gravis? | Yes, eculizumab is used for treatment of myasthenia gravis. | INTRODUCTION: Complement activation at the neuromuscular junction is a primary
cause of acetylcholine receptor loss and failure of neuromuscular transmission
in myasthenia gravis (MG). Eculizumab, a humanized monoclonal antibody, blocks
the formation of terminal complement complex by specifically preventing the
enz... |
What is the name of the Cas13 based diagnostic test for the Zika and dengue viruses? | The Cas13-based platform that can detect Zika and dengue viruses is called SHERLOCK (specific high-sensitivity enzymatic reporter unlocking). | Author information:
(1)Broad Institute of the Massachusetts Institute of Technology (MIT) and
Harvard, Cambridge, MA 02142, USA. pardis@broadinstitute.org
cmyhrvol@broadinstitute.org cfreije@broadinstitute.org.
(2)Center for Systems Biology, Department of Organismal and Evolutionary
Biology, Harvard University, Camb... |
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 sing... | 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. Here we show that RNA-guided DNA binding
unleash... |
What type of drug is apixaban? | Apixaban is an anticoagulant. | |
Can cardiospheres be produced from skin fibroblasts? | Yes, induced cardiospheres (iCS) can be produced by somatic reprogramming of mouse fibroblasts using a panel of pluripotent transcription factors and cardiotrophic growth factors. | |
What the chromsomal location of the gene that is deleted in Potocki-Shaffer syndrome? | In Potocki-Shaffer syndrome (PSS), the full phenotypic spectrum is manifested when deletions are at least 2.1 Mb in size at 11p11.2 | We report a family with inherited Potocki-Shaffer syndrome. The phenotypically
normal mother has an interstitial deletion of 11(p11.12p11.2) with neocentric
marker chromosome formation. The marker chromosome contains the deleted material
on 11p11.2 and is likely a ring. The patient inherited a maternal deleted
chro... |
List 3 enterotoxins produced by Clostridium difficile. | Toxin A (TcdA), toxin B (TcdB), and binary toxin (CDT) produced by Clostridium difficile (CD) | The action of toxins A, B, and C from Clostridium difficile was studied in the
small intestine and colon of rats. All three caused fluid accumulation in the
small intestine, maximal secretion being induced by 1 micrograms of toxin A, 20
micrograms of B, and 15 micrograms of C. Both toxins A and C caused shedding of ... |
Which tissue secretes vaspin? | Visceral adipose tissue-derived serine protease inhibitor (Vaspin) is an adipocytokine that has been shown to exert anti-inflammatory effects and inhibits apoptosis under diabetic conditions. | Vaspin expression is increased in white adipose tissue (WAT) of diet-induced
obese mice and rats and is supposed to compensate HFD-induced inflammatory
processes and insulin resistance in adipose tissue by counteracting
pro-inflammatory gene expression in obesity. Multiple studies have also
demonstrated strong anti... |
List adipokines. | adiponectin
leptin
resistin | BACKGROUND: Adipose tissue is an important endocrine organ that secretes a
number of adipokines, like Resistin (RETN); it's an adipocytes-secreted cytokine
and has been proposed as a link between obesity and diabetes. Many resistin gene
polymorphisms were described and their implication in obesity was controversial.... |
List features of the DOOR syndrome. | DOOR syndrome is a rare multisystem genetic disorder, consisting of deafness (sensorineural), onychodystrophy, osteodystrophy, and mental retardation. | The acronym DOOR was first used by Cantwell in 1975 to describe a syndrome
comprising sensorineural deafness, osteodystrophy, onychodystrophy, and mental
retardation. To date, 16 cases of the syndrome have been documented in the
literature. We present two sisters who died in early infancy with the clinical
features... |
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