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Can the apoptosis regulator BAX trigger the release of cytochrome c?

Yes, altered Bax conformation trigger its redistribution from the cytosol to mitochondria. Subsequently, cytochrome c is released from mitochondria to cytosol.

What is the definition and the biological role of epithelial-mesenchymal transition (EMT)

Epithelial-mesenchymal transition (EMT) is a complex process in which epithelial cells acquire the characteristics of invasive mesenchymal cells. EMT has been implicated in cancer progression and metastasis as well as the formation of many tissues and organs during development. Epithelial cells undergoing EMT lose cell-cell adhesion structures and polarity, and rearrange their cytoskeletons. Several oncogenic pathways such as transforming growth factor (TGF) -β, Wnt, and Notch signaling pathways, have been shown to induce EMT. The epithelial-mesenchymal transition (EMT) is a fundamental process governing morphogenesis in multicellular organisms. This process is also reactivated in a variety of diseases including fibrosis and in the progression of carcinoma.

Which disease is caused by mutations in the gene PRF1?

The presence of mutations in PRF1, UNC13D, STX11 and STXBP2 genes in homozygosis or compound heterozygosis results in immune deregulation. Most such cases lead to clinical manifestations of haemophagocytic lymphohistiocytosis (HLH).

Which are the main advantages of kallisto against similar methodologies?

Kallisto is a pseudo-alignment algorithm, which is a way of quantifying RNA-sequencing. It's used in RNA-seq because it's much faster and more efficient than other methodologies.

Do RNA:DNA hybrids preferentially form in high or low GC regions?

Transcription through a GC-rich region favors R-loop formation, with the nascent (G-rich) RNA forming a stable RNA:DNA hybrid with the template DNA strand.

Is cardiac magnetic resonance imaging indicated in the pre-participation screening of athletes?

Currently cardiac magnetic resonance imaging is not indicated in the pre-participation screening of athletes. However the potential of this imaging technique to provide new information on cardiac function morphology and myocardial composition, in particular with regard to myocardial fibrosis, gets it potentially suitable to be applied in the pre-participation screening of athletes

Is there an association between TERT promoter mutation and survival of glioma patients?

Yes, TERT mutation is associated with survival of glioma patients and was suggested as a bio-marker of gliomas.

Is overexpression of LY6K associated with better prognosis for non-small cell lung cancer patients?

No, LY6K overexpression is associated with poor prognosis for patients with NSCLC.

Is signal transducer and activator of transcription-3 (STAT3) critical for tumor angiogenesis progression?

(STAT3) is a latent cytoplasmic transcription factor, originally discovered as a transducer of signal from cell surface receptors to the nucleus. It is activated by tyrosine phosphorylation at position 705 leading to its dimerization, nuclear translocation, DNA binding, and activation of gene transcription. Under normal physiological conditions, STAT3 activation is tightly regulated. However, compelling evidence suggests that STAT3 is constitutively activated in many cancers and plays a pivotal role in tumor growth and metastasis. It regulates cellular proliferation, invasion, migration, and angiogenesis that are critical for cancer metastasis

Which hormone abnormalities are common in Williams syndrome ?

Thyroid hormone abnormalities are common in Williams syndrome. Oxytocin and vasopressin, cortisol, growth hormone and calcitonin were also implicated in the Williams syndrome.

Is Dicer part of the RISC loading complex?

Yes, Dicer is part of the RISC loading complex.

Is SLIC-CAGE used for quantification of translation?

No. Cap analysis of gene expression (CAGE) is a method used for single-nucleotide resolution detection of RNA polymerase II transcription start sites (TSSs). Accurate detection of TSSs enhances identification and discovery of core promoters. In addition, active enhancers can be detected through signatures of bidirectional transcription initiation. Described here is a protocol for performing super-low input carrier-CAGE (SLIC-CAGE). The SLIC adaptation of the CAGE protocol minimizes RNA losses by artificially increasing the RNA amount through use of an in vitro transcribed RNA carrier mix that is added to the sample of interest, thus enabling library preparation from nanogram-amounts of total RNA (i.e., thousands of cells).

Which is the major clinical feature observed in FDXR-associated disease?

FDXR-associated disease is a phenotypically heterogeneous disorder with retinal dystrophy being a major clinical feature observed in this cohort.

Should perampanel be used for amyotrophic lateral sclerosis?

No. Perampanel should not be used for amyotrophic lateral sclerosis.

Is protein CXCR4 used as a prognostic marker of cancer?

Yes, the chemokine C-X-C motif receptor 4 (CXCR4) has been found to be a prognostic marker in various types of cancer.

Which R/Bioconductor package has been developed for visualizing differential amino acid group usage in proteomics?

DagLogo is an R/Bioconductor package for identifying and visualizing differential amino acid group usage in proteomics data. DagLogo allows various formats for input sets and provides comprehensive options to build optimal background models. It implements different reduced AA alphabets to group AAs of similar properties. Furthermore, dagLogo provides statistical and visual solutions for differential AA (or AA group) usage analysis of both large and small data sets. Case studies showed that dagLogo can better identify and visualize conserved protein sequence patterns from different types of inputs and can potentially reveal the biological patterns that could be missed by other logo generators.

What nerve is affected in Carpel Tunnel syndrome?

Carpel tunnel syndrome (CTS) is a condition in which median nerve compression results in paresthesias and pain in the wrist and hand.

List indications for palivizumab for treatment of RSV-induced bronchiolitis.

According to guidelines palivizumab is available for treatment of RSV-induced bronchiolitis in high-risk infants: born before 29 weeks' gestation, infants with chronic lung disease of prematurity, and infants and children with hemodynamically significant heart disease. Palivizumab reduces the burden of bronchiolitis but does not prevent infection.

Tumors of which three organs are classically associated with the multiple endocrine neoplasia type 1 syndrome?

Multiple endocrine neoplasia type 1 syndrome is an inherited cancer syndrome defined by occurrence of multiple neuro-endocrine tumors and is classically associated with the combined occurrence of two or more tumors involving parathyroid gland, pancreas and pituitary gland. Other tumors, including but not limited to adrenal cortical tumor, carcinoid tumors lipoma, leiomyoma, duodenal gastrinoma, hepatic focal nodular hyperplasia, and renal angiomyolipoma, angiofibroma, colagenoma, thyroid tumor and meningioma, may also be present.

What are the roles of Smyd3 in zebrafish?

Smyd3 is required for the development of cardiac and skeletal muscle in zebrafish. Transcripts of smyd3 are expressed in zebrafish embryos at all developmental stages and knockdown of smyd3 in embryos resulted in pericardial edema and defects in the trunk structure. In addition, these phenotypes are associated with abnormal expression of three heart-chamber markers including cmlc2, amhc and vmhc, and abnormal expression of myogenic regulatory factors including myod and myog.

List Parkin binding partners

HSP90 CDC37 GRP75 HSP60 LRPPRC TUFM PICK1 PSMA7 Pael receptor

Herpes viruses have what type of genome?

The Herpesviridae are a family of viruses which have a large genome of linear, double-stranded DNA (> 120 kb)

What is carboxyglutamate?

One of the important glutamic acid modifications is post-translationally modified 4-carboxyglutamate.

What is the purpose of the FRAX scale?

The FRAX score (The WHO Fracture Risk Assessment Tool), is a free web-based clinical scale assessing the 10-year probability of major osteoporotic fracture risk and need for lifestyle advice/reassurance, dual X-ray absorptiometry (DEXA) scanning or preventive treatment.

Which is the major phytoalexin in alfalfa (Medicago sativa L.)?

The major phytoalexin in alfalfa (Medicago sativa L.) is the isoflavonoid (-)-medicarpin (or 6aR, 11aR)-medicarpin. Medicarpin is synthesized via the isoflavonoid branch of phenylpropanoid metabolism.

What is the characteristic feature of the Dyke-Davidoff-Masson syndrome.

Cerebral hemiatrophy (atrophy of one cerebral hemisphere) is the characteristic feature of the Dyke-Davidoff-Masson syndrome. It develops due to an insult to the brain in fetal or early childhood period. Calvarial thickening, skull and facial asymmetry, contralateral hemiparesis, cognitive impairment and seizures are also characteristic to the Dyke-Davidoff-Masson syndrome. .

What rare disease is associated with a mutation in the GPC6 gene on chromosome 13?

The proband had normal molecular analysis of the glypican 6 gene (GPC6), which was recently reported as a candidate for autosomal recessive omodysplasia

Which web resource for LIR motif-containing proteins in eukaryotes has been developed?

In the past few years it has been revealed that Atg8-interacting proteins include not only receptors but also components of the core autophagic machinery, proteins associated with vesicles and their transport, and specific proteins that are selectively degraded by autophagy. Atg8-interacting proteins contain a short linear LC3-interacting region/LC3 recognition sequence/Atg8-interacting motif (LIR/LRS/AIM) motif which is responsible for their interaction with Atg8-family proteins. These proteins are referred to as LIR-containing proteins (LIRCPs). So far, many experimental efforts have been carried out to identify new LIRCPs, leading to the characterization of some of them in the past 10 years. Given the need for the identification of LIRCPs in various organisms, the iLIR database ( https://ilir.warwick.ac.uk ) has been developed as a freely available web resource, listing all the putative canonical LIRCPs identified in silico in the proteomes of 8 model organisms using the iLIR server, combined with a Gene Ontology (GO) term analysis.

What is INCB3619?

INCB3619, is avselective, potent, orally bioavailable small-molecule inhibitor of a subset of ADAM proteases that prevents the processing and activation of multiple ErbB ligands, including heregulin. In addition, INCB3619 inhibits gefitinib-resistant HER3 signaling and enhances gefitinib inhibition of EGFR signaling in NSCLC. Administration of INCB3619 to tumor-bearing mice reduced ErbB ligand shedding in vivo and inhibited ErbB pathway signaling (e.g., phosphorylation of Akt), tumor cell proliferation, and survival.

What is the role of DNA Repair Cofactors ATMIN and NBS1?

The DNA double-strand break signaling kinase ATM and its cofactor NBS1 are required during T cell development and for the maintenance of genomic stability. The role of a second ATM cofactor, ATMIN (also known as ASCIZ) in T cells is much less clear, and whether ATMIN and NBS1 function in synergy in T cells is unknown.

What monoclonal antibody drugs are used to treat late stage melanoma?

Nivolumab, ipilimumab, vemurafenib, and dabrafenib are used to treat late stage melanoma

What is "cell competition"?

Cell competition is a social cellular phenomenon in which unfit cells are selectively eliminated to maintain tissue homeostasis. At the initial stage of carcinogenesis, cell competition often occurs between newly emerging transformed cells and the neighboring normal cells, leading to the elimination of transformed cells from the epithelial layer.

How is the Regulatory Trait Concordance (RTC) calculated?

Regulatory Trait Concordance (RTC) that accounts for local LD structure and integrates eQTLs and GWAS results in order to reveal the subset of association signals that are due to cis eQTLs.

Which glands are subject to attack by lymphocytes in Sjogren's syndrome?

Sjögren's syndrome (SjS) is a human autoimmune disease characterized by exocrine dysfunction resulting from chronic autoimmune attack primarily against the lacrimal and/or salivary glands.

Is the toxin produced by Clostridium botulinum always deadly?

There are numerous examples where children and animals survived infection with clostridium botulinum.

Which assays can be used for detecting DNA fragmentation resulting from programmed cell death (apoptosis)?

The biochemical hallmark of apoptosis is internucleosomal DNA cleavage into oligonucleosome-length fragments. Measurement of apoptosis-associated internucleosomal DNA fragmentation through determination of the percentage of fragmented DNA by electrophoresis or centrifugation of whole cell lysates is by far the most common means of quantifying apoptosis. DNA fragmentation due to apoptosis can also be identified using terminal deoxynucleotidyl transferase-mediated dUTP-biotin nick end labeling of DNA fragments (TUNEL), in situ end labeling (ISEL) of the genomic DNA in fragmented nuclei, and measurement of cytosolic histone-bound DNA fragments (cell death ELISA assays).

Which protein mediates the replacement of H2A by H2A.Z in the yeast Saccharomyces cerevisiae?

Saccharomyces cerevisiae Swr1, a Swi2/Snf2-related ATPase, is the catalytic core of a multisubunit chromatin remodeling enzyme, called the SWR1 complex, that efficiently replaces conventional histone H2A in nucleosomes with histone H2A.Z. We identified a complex containing 13 different polypeptides associated with a soluble pool of H2A.Z in Saccharomyces cerevisiae.

What is the role of 5hmC (5 hydroxy-methyl-Cytocine) in differentiation?

The balance between 5hmC and 5mC in the genome is linked with cell-differentiation processes such as pluripotency and lineage commitment. Tet1-mediated antagonism of CpG methylation imparts differential maintenance of DNA methylation status at Tet1 targets, ultimately contributing to mESC differentiation and the onset of embryonic development. By mapping DNA methylation and hydroxymethylation at base resolution, we find that deletion of Tet2 causes extensive loss of 5hmC at enhancers, accompanied by enhancer hypermethylation, reduction of enhancer activity, and delayed gene induction in the early steps of differentiation.

Do A-type lamins bind euchromatin or heterochromatin?

These data reveal that the domain encoded by exon 9 is important to maintain telomere homeostasis and heterochromatin structure but does not play a role in DNA repair, thus pointing to other exons in the lamin A tail as responsible for the genomic instability phenotype in Lmna(Δ8-11/Δ8-11) mice

What gene is mutated in Familial Mediterranean Fever?

The MEFV gene which encodes the pyrin protein is mutated in Familial Mediterranean Fever(FMF).

How is Hsd17b1 associated with endometriosis?

Evidence for association between the Ser312Gly polymorphism in HSD17B1 and endometriosis was found in a Japanese population. The A-allele of HSD17B1 appears to confer higher risk for endometriosis. Inhibition of the estradiol-synthesizing enzyme 17beta-hydroxysteroid dehydrogenase type 1 (17beta-HSD1) has been proposed as a promising new therapeutic option to treat estrogen-dependent diseases like endometriosis

What is the indication for KYMRIAH?

Kymriah™ has been approved for the treatment of pediatric patients and young adults with refractory or relapse (R/R) B cell precursor acute lymphoblastic leukemia.

Is Semagacestat effective for Alzheimer's Disease?

No. In a placebo controlled clinical trial, semagacestat did not improve cognitive status, and patients receiving the higher dose had significant worsening of functional ability. The trial was terminated due to unexpected aggravation of cognitive deficits and side effects.

Describe GARLIC (GWAS-based Prediction Toolkit for Connecting Diseases and Cell Types)

GARLIC (GWAS-based Prediction Toolkit for Connecting Diseases and Cell Types) is a bioinformatic toolkit for aetiologically connecting diseases and cell type-specific regulatory maps. GARLIC can be used to retrieve potential disease-causative genetic variants overlapping regulatory sequences of interest. Overall, GARLIC can satisfy several important needs within the field of medical genetics, thus potentially assisting in the ultimate goal of uncovering the elusive and complex genetic basis of common human disorders.

List intramembrane rhomboid peptidases

PARL Pcp1 hiGlpG ecGlpG YqgP

List peptide fragmentations methods in mass spectrometry

CID, HCD, ECD, ETD and PSD are different peptide fragmentation technologies used in mass spectrometry.

Describe mechanism of action of PLX3397 drug.

PLX3397 works by inhibiting colony-stimulating-factor-1 receptor (CSF1R).

What is the cause of Sandhoff disease?

Sandhoff disease (SD) is a genetic disorder caused by a mutation of the β-subunit gene β-hexosaminidase B (HexB) in humans, which results in the massive accumulation of the ganglioside GM2 and related glycosphingolipids in the nervous system.

What kind of molecule is AZD8601?

AZD8601 is a modified mRNA.

Which algorithm is used for detection of long repeat expansions?

Identifying large expansions of short tandem repeats (STRs), such as those that cause amyotrophic lateral sclerosis (ALS) and fragile X syndrome, is challenging for short-read whole-genome sequencing (WGS) data. A solution to this problem is an important step toward integrating WGS into precision medicine. For that purpose, ExpansionHunter has been developed as a software tool that, using PCR-free WGS short-read data, can genotype repeats at the locus of interest, even if the expanded repeat is larger than the read length.

What is the protein product of the gene GBA2?

The GBA2 gene encodes the non-lysosomal glucosylceramidase (NLGase), an enzyme that catalyzes the conversion of glucosylceramide (GlcCer) to ceramide and glucose.

What biologic process in the body is associated with Mast cells?

Mast cells (MCs) are innate immune cells that are a major source of costimulatory signals and inflammatory mediators in the intestinal mucosa.

Are ultraconserved elements often transcribed?

Yes. Especially, a large fraction of non-exonic UCEs is transcribed across all developmental stages examined from only one DNA strand.

Are there mammalian promoters with distal enhancer functions?

Yes. Several studies have suggested that some promoters might have enhancer functions. By exploiting a high-throughput enhancer reporter assay, scientists have unraveled a set of mammalian promoters displaying enhancer activity. These promoters have distinct genomic and epigenomic features and frequently interact with other gene promoters. Extensive CRISPR-Cas9 genomic manipulation demonstrated the involvement of these promoters in the cis regulation of expression of distal genes in their natural loci.

Is histone variant H3.3K27M associated with gliomas?

Yes, Diffuse intrinsic pontine gliomas (DIPG) are the most aggressive brain tumors in children with 5-year survival rates of only 2%. About 85% of all DIPG are characterized by a lysine-to-methionine substitution in histone 3, which leads to global H3K27 hypomethylation accompanied by H3K27 hyperacetylation.

What is the effect induced by sympathetic nervous system on pupil size?

Pupil size is determined by the interaction of the parasympathetic and the sympathetic nervous system. The sympathetic nervous system acts either directly on the dilator muscle (peripherally) or centrally by inhibiting the Edinger-Westphal nucleus. Thus, the sympathetic nervous system mediates pupillary dilatation.

Which sequence-based algorithm for branch point prediction has been proposed?

BPP is a sequence-based algorithm for branch point prediction.

What is known about FANK1?

Fank1 encodes a protein containing a fibronectin type III domain in the amino terminus and five ankyrin repeats in its carboxyl terminus. FANK1 displays a high degree of sequence conservation in 11 vertebrate species during evolution. Bioinformatic and experimental analyses revealed that Fank1 was exclusively expressed in the testis in both mice and humans. Consistent with its nuclear localization, a gene ontology analysis suggests that FANK1 has a DNA binding activity and thus may function as a transcription factor.

List the core SNARE complex proteins.

VAMP2 Syntaxin SNAP25

What is the use of Atogepant?

Atogepant is used for preventive treatment of migraine.

Which gene is responsible for the development of the Mowat-Wilson syndrome?

Mowat-Wilson syndrome is a genetic disease caused by heterozygous mutations or deletions of the zinc finger E-box-binding homeobox 2 (ZEB2) gene.

Which R/Bioconductor package has been developed for cancer subtype identification?

Identifying molecular cancer subtypes from multi-omics data is an important step in the personalized medicine. CancerSubtypes is an R/Bioconductor package for molecular cancer subtype identification, validation and visualization. CancerSubtypes integrates four main computational methods which are highly cited for cancer subtype identification and provides a standardized framework for data pre-processing, feature selection, and result follow-up analyses, including results computing, biology validation and visualization. The input and output of each step in the framework are packaged in the same data format, making it convenience to compare different methods.

Which is the transcript responsible for X-chromosome inactivation?

The long non- coding RNA Xist (X inactive specific transcript)

Is Bladder training an effective method to treat urge incontinence ?

Yes. Bladder training is a simple, safe, and effective treatment in the management of mild to moderate forms of urinary incontinence in outpatient populations. It can be used as a first-line treatment or in combination with such other interventions as pelvic muscle exercises, bladder pressure biofeedback, electrical stimulation, and drug therapy. Quoted results vary from 26 to 90% . Patients with sensory urgency appeared to do better than those with detrusor instability and it is suggested that bladder training may be indicated as primary treatment in sensory urgency.

Which package in Bioconductor has been developed with the aim to analyze differential DNA loops from sequencing data?

Diffloop is an R/Bioconductor package that provides a suite of functions for the quality control, statistical testing, annotation, and visualization of DNA loops.

Are optogenetics tools used in the study and treatment of epilepsy?

Using optogenetics tools it is possible to begin to address some of the fundamental unanswered questions in epilepsy, to dissect epileptic neuronal circuits and to develop new intervention strategies.

Should Pentoxifylline be used for treatment of amyotrophic lateral sclerosis?

No. Pentoxifylline is not beneficial in amyotrophic lateral sclerosis and should be avoided in patients treated with riluzole.

How is OCT3 associated with serotonin?

OCT3 plays a role in serotonin clearance

What is disrupted by ALS- and FTD-associated missense mutations in TBK1?

ALS- and FTD-associated missense mutations in TBK1 differentially disrupt mitophagy.

What is the association of the protein RAB10 and Alzheimers disease?

The genes SEC22B, RAB10 and FLT1 may be potential biomarkers of AD.

What are the characteristics of Christianson syndrome?

Christianson syndrome (CS) is caused by mutations in the X-linked Na(+) /H(+) exchanger 6 (NHE6). Patients present with prominent neurological, medical, and behavioral symptoms. All CS participants were nonverbal and had intellectual disability, epilepsy, and ataxia. Other neurologic symptoms included eye movement abnormalities (79%), postnatal microcephaly (92%), and magnetic resonance imaging evidence of cerebellar atrophy (33%). Regression was noted in 50%, with recurrent presentations involving loss of words and/or the ability to walk. Medical symptoms, particularly gastrointestinal symptoms, are common. Height and body mass index measures were below normal ranges in most participants. Behavioral symptoms included hyperkinetic behavior (100%), and a majority exhibited high pain threshold.

Does inactivation of CYLD help in colorectal cancer?

Νο. Inactivation of CYLD in intestinal epithelial cells exacerbates colitis-associated colorectal carcinogenesis.

Are circRNAs susceptible to degradation by RNase R?

Currently, an increasing body of evidence has demonstrated that 1) majority of circRNAs are evolutionarily conserved across species, stable, and resistant to RNase R degradation.

Which disease is treated with Risdiplam?

Risdiplam is approved for spinal muscular atrophy.

Where is the body would the Peyer's patches be found

Peyer's patches (PPs) play a major role in intestinal mucosal immunity and are located in the gut.

What is GDF10?

The growth/differentiation factor-10 (GDF-10) is a new member of the transforming growth factor-beta (TGF-beta) superfamily. It is highly related to bone morphogenetic protein-3 (BMP-3) and often referred to as BMP3b. The nucleotide sequence of GDF-10 encodes a predicted protein of 476 amino acids with a molecular weight of approximately 52,000. The GDF-10 polypeptide contains a potential signal sequence for secretion, a putative RXXR proteolytic processing site, and a carboxy-terminal domain with considerable homology to other known members of the TGF-beta superfamily. GDF10 is found primarily in murine uterus, adipose tissue, and brain and to a lesser extent in liver and spleen. In addition, GDF-10 mRNA was present in both neonatal and adult bone samples, with higher levels being detected in calvaria than in long bone. These results suggest that GDF10 may play multiple roles in regulating cell differentiation events, including those involved in skeletal morphogenesis. Gdf10 was mapped to the proximal region of mouse chromosome 14 close to a region known to contain a spontaneous recessive mutation that is associated with a craniofacial defect.

Can Levoxyl (levothyroxine sodium) cause insomnia?

Levoxyl monotherapy is associated with increased insomnia compared to a combination of levothyroxine and liothyronine.

List as many European influenza vaccines as possible.

Three split-virion vaccines (Vaxigrip, Begrivac, and Influsplit/Fluarix) and three subunit vaccines containing only viral surface glycoproteins (Influvac, Agrippal, and Fluvirin).

What is the activity of Indoleamine 2,3-dioxygenase 1.

Indoleamine 2,3-dioxygenase 1 (IDO1), a known immunosuppressive enzyme that catalyzes the rate-limiting step in the oxidation of tryptophan (Trp) to kynurenine (Kyn), has received increasing attention as an attractive immunotherapeutic target for cancer therapy.

Describe f-scLVM

Single-cell RNA-sequencing (scRNA-seq) allows studying heterogeneity in gene expression in large cell populations. Such heterogeneity can arise due to technical or biological factors, making decomposing sources of variation difficult. F-scLVM (factorial single-cell latent variable model) is a method based on factor analysis that uses pathway annotations to guide the inference of interpretable factors underpinning the heterogeneity. The model jointly estimates the relevance of individual factors, refines gene set annotations, and infers factors without annotation. F-scLVM robustly decomposes scRNA-seq datasets into interpretable components, thereby facilitating the identification of novel subpopulations.

Is the long non- coding RNA malat-1 up or downregulated in cancer?

Malat-1 expression is upregulated in several tumor types

What is the cause of Krabbe disease?

Globoid cell leukodystrophy (GLD), or Krabbe disease, is an inherited, neurologic disorder that results from deficiency of a lysosomal enzyme, galactosylceramidase.

Is lenvatinib effective for renal cell carcinoma?

Yes, combination of lenvatinib and everolimus is approved to treat advanced or metastatic renal cell carcinoma.

Does natalizumab improve disease course of secondary progressive multiple sclerosis?

No. Atalizumab treatment for secondary progressive multiple sclerosis did not reduce progression on the primary multicomponent disability endpoint in part 1, but it did reduce progression on its upper-limb component.

Is nivolumab used for treatment of Non–Small-Cell Lung Cancer?

Yes, nivolumab used for treatment of Non–Small-Cell Lung Cancer.

What is Chronic Wasting Disease (CWD) in deer?

Chronic wasting disease (CWD) is a transmissible spongiform encephalopathy (TSE) affecting members of the cervid species, and is one of the few TSEs with an expanding geographic range.

What is the HPG pore?

The use of nanopore technologies is expected to spread in the future because they are portable and can sequence long fragments of DNA molecules without prior amplification. The first nanopore sequencer available, the MinION™ from Oxford Nanopore Technologies, is a USB-connected, portable device that allows real-time DNA analysis. In addition, other new instruments are expected to be released soon, which promise to outperform the current short-read technologies in terms of throughput. Despite the flood of data expected from this technology, the data analysis solutions currently available are only designed to manage small projects and are not scalable. HPG pore is a toolkit for exploring and analysing nanopore sequencing data. HPG Pore can run on both individual computers and in the Hadoop distributed computing framework, which allows easy scale-up to manage the large amounts of data expected to result from extensive use of nanopore technologies in the future.

What 2 biological processes are regulated by STAMP2 in adipocytes?

Inflammation, insulin resistance and metabolic response are regulated by STAMP2 in adipocytes.

Patients of which disease could be treated by utilizing knowledge obtained from experiments suppressing TDP-43 toxicity in yeast?

Amyotrophic lateral sclerosis (ALS).

Is Cri Du Chat associated with an expansion of a repeat with in the gene found on chromosome 5?

Cri-du-chat syndrome is a chromosomal disorder caused by a deletion of the short arm of chromosome 5

Is NicVAX vaccine effective for smoking cessation?

No. NicVAX vaccine failed to meet the primary endpoint in two large phase III studies, although the correlation of higher abstinence rates in subjects with higher immunity to nicotine was observed. The nicotine vaccine, NicVAX, does not appear to improve the chances of stopping smoking when given in addition to varenicline and behavioural support.

How are topologically associating domains (TAD) associated with replication timing?

Topologically associating domains and their long-range contacts are established during early G1 coincident with the establishment of the replication-timing program. Topologically associating domains are stable units of replication-timing regulation.

What is DeepCAGE?

The cap analysis of gene expression (CAGE) technology has been established to detect transcriptional starting sites (TSSs) and expression levels by utilizing 5' cDNA tags and PCR. It has been reported that the amount of templates is proportional to the amplification efficiency of PCR. CAGE has been used as a key technique for analyzing promoter activity and finding new transcripts including alternative spliced products and noncoding transcripts. DeepCAGE can be utilized for high-throughput next-generation sequencing technology. DeepCAGE can produce much deeper transcriptome datasets and can reveal more details of the regulatory network.

Which are the subunits of the IkB protein kinase (IKK)?

Proinflammatory NF-kappaB activation requires the IkappaB (inhibitor of NF-kappaB) kinase (IKK) complex that contains two catalytic subunits named IKKalpha and IKKbeta and a regulatory subunit named NF-kappaB essential modulator (NEMO).Additional components may exist, transiently or permanently, but their characterization is still unsure.

List 3 diseases for which saRNAs have been evaluated as a potential treatment.

saRNAs have been tested for the treatment of breast, bladder, liver cancer and more.

Is sonidegib effective for basal cell carcinoma?

Yes. Sonidegib, an oral smoothened antagonist, is indicated for the treatment of adults with locally advanced basal cell carcinoma (laBCC) who are not candidates for surgery or radiation therapy, or adults with recurrent laBCC following surgery or radiation therapy.

Elaborate on the link between conserved noncoding elements (CNEs) and fractality.

Well-developed fractality is revealed for the chromosomal distribution of different classes of CNEs in the human genome by employing the scaling of block entropy and box-counting. This is characteristic of elements that are either extremely conserved between species or are of ancient origin, i.e. conserved between distant organisms across evolution. There are also power-law-like distributions, i.e. linearity in double logarithmic scale, in the inter-CNE distances, a feature which is connected with fractality and self-similarity.

Fingolimod is a selective antagonist for which molecule?

Fingolimod is a selective S1P1 functional antagonist by induction of irreversible S1P1 internalization and degradation.

What is water radiolysis?

Water radiolysis involves chemical decomposition of the water molecule into free radicals after exposure to ionizing radiation. These free radicals have deleterious effects on normal cell physiology.

Oxantel is used for periodontitis treatment. How does it work?

Oxantel, a cholinergic anthelmintic and fumarate reductase inhibitor, significantly inhibited biofilm formation by P. gingivalis and disrupted established biofilms.