Particularly, PKC (OMIM 176977, known as PKCD also, PRKCD) is turned on via DAG made by receptor-mediated hydrolysis of membrane inositol phospholipids aswell as by phorbol ester. (nibbp2p.org)
Mutation1
The first genetic defect was described in 1995 by the discovery of the FAS gene mutation. (medscape.com)
Interacting Genes1
Only MTOR-interacting genes and only the most-mentioned/most-curated interactions are shown in the graph. (ucsc.edu)
Annotation1
To prioritize the 37?950 variant calls, we applied the ANNOVAR functional annotation bundle8 and filtered the output based on gene/amino acidity annotation, functional prediction scores (SIFT, PolyPhen, LRT, MutationTaster), conservation scores (PhyloP and GERP++), and allele frequencies per the Country wide. (nibbp2p.org)
Symbol1
How can I obtain a list of all NCBI gene ID's along with their full name, symbol, and also known as symbols? (stackexchange.com)
Encodes1
This gene encodes a member of the E3 ubiquitin-conjugating enzyme family which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme and transfers the ubiquitin to the targeted substrates. (utsouthwestern.edu)
Protein kinas2
Protein kinase C delta type (or PKC-δ) is an enzyme that in humans is encoded by the PRKCD gene. (wikipedia.org)
In the present study, we demonstrate mRNA level PGM salt stimulation led to an induction of the positive acute phase genes alpha 1-antitrypsin (SERPINA1), TLR2 (Toll-like receptor 2), ADAM17 (A disintegrin and metalloproteinase 17), EGLN3 (hypoxia-inducible factor prolyl hydroxylase), PRKCB (protein kinase C beta), PRKCD (protein kinase C delta), and PGF (placental growth factor). (emerging-researchers.org)
Mutations6
While the specific environmental factors are unclear, the genetic influences in CVID are believed to be mutations in genes that are involved in the development and function of immune system cells called B cells . (medlineplus.gov)
Mutations in the genes associated with CVID result in dysfunctional B cells that cannot make sufficient amounts of antibodies. (medlineplus.gov)
Mutations in at least 13 genes have been associated with CVID. (medlineplus.gov)
The most frequent mutations occur in the TNFRSF13B gene. (medlineplus.gov)
TNFRSF13B gene mutations disrupt B cell function and antibody production, leading to immune dysfunction. (medlineplus.gov)
mutations in these genes account for only a small percentage of cases. (medlineplus.gov)
Isoforms1
Alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. (utsouthwestern.edu)
STAT11
Immunodeficiency 31A/31B (sequence analysis of STAT1 gene). (mendelian.co)
Overlap1
The following Genes overlap with this region. (mcw.edu)
Human7
Despite progress in animal studies, the genes and their expression pattern involved in mucus production and secretion in human airway epithelium are not well understood. (biomedcentral.com)
We hypothesized that comparison of the transcriptomes of the small airway epithelium of individuals that express high vs low levels of MUC5AC, the major macromolecular component of airway mucus, could be used as a probe to identify the genes related to human small airway mucus production/secretion. (biomedcentral.com)
Little is known about the gene networks associated with the synthesis and secretion of mucins in the human small airway epithelium. (biomedcentral.com)
OMIM 601859),7 including autoimmunity, Chelidonin neutropenia, and elevated B-cell proliferation and quantities, 3 building an attractive applicant gene for human beings Chelidonin with ALPS-like disease PKC. (nibbp2p.org)
A curated database of candidate human ageing-related genes and genes associated with longevity and/or ageing in model organisms. (senescence.info)
Database of human genes associated with cellular senescence. (senescence.info)
Prss16, the gene coding for TSSP is linked to a diabetes susceptibility locus in Human. (inserm-transfert.com)
Search1
I would like to search the literature using the Pubmed search engine for a set of genes that are associated with a brain region of interest. (stackexchange.com)
Identification2
The identification of the genes associated with increased airway mucin production in humans should be useful in understanding the pathogenesis of airway mucus hypersecretion and identifying therapeutic targets. (biomedcentral.com)
This novel strategy enabled identification of a 73 "MUC5AC-associated core gene" list with 9 categories, which control a series of processes from mucin biosynthesis to mucus secretion. (biomedcentral.com)
Enrichment1
Cox regression analysis identifies independent prognostic factors for these patients, and enrichment analysis of prognosis-related genes was also performed. (biomedcentral.com)
Assess2
Affymetrix HG-U133 plus 2.0 microarrays were used to assess gene expression. (biomedcentral.com)
PRKCD To assess the SB265610 ability of Ang-2 to activate Tie2 = 3. (careersfromscience.org)
Synonyms1
Bonus points if you find/write a utility which adds gene synonyms to the query! (stackexchange.com)
Mucin1
To follow a gel-forming mucin production, we tagged with a GFP variant a mouse mucin gene. (inserm-transfert.com)
Homozygous1
PHENOTYPE: Mice homozygous for a gene trap allele exhibit preweaning lethality, reduced fertility, decreased growth, reduced grip strength, impaired hearing, eye inflammation and decreased cholesterol level. (utsouthwestern.edu)
Expression12
Τhis Hematology/Fusion/Expression Profile provides clinically relevant information on Fusion/translocations and expression of various genes that are relevant in hematologic neoplasms. (genomictestingcooperative.com)
Massive parallel sequencing (RNA-Seq) was used to verify gene expression of small airway epithelium from 5 nonsmokers and 6 smokers. (biomedcentral.com)
The coordinated gene expression pattern of MUC5AC-associated core genes were corroborated in an independent cohort of 72 healthy smokers. (biomedcentral.com)
To test this hypothesis, we examined the expression of 80 different hypoxia genes using real-time PCR in non-cancer lung cells exposed to platinum group metals and compared expression in lung cells not exposed to PGM salts. (emerging-researchers.org)
Gene expression studies (RNA extraction, cDNA synthesis, RT-PCR detection) were performed by myself. (emerging-researchers.org)
A curated database of genes associated with dietary restriction in model organisms either from genetic manipulation experiments or gene expression profiling. (senescence.info)
Projects focused on gene expression profiling of ageing and of dietary manipulations of ageing, such as caloric restriction. (senescence.info)
To test whether Tie2/Akt signaling induced by autocrine Ang-2 has an inhibitory effect on FOXO1 transcriptional activity similar to the effect of Ang-1, we examined the effect of Ang-2-blocking antibody on the expression of the FOXO1 target genes Ang-2 and decorin, genes that we have shown to be induced by FOXO1 and repressed by Ang-1 (20). (careersfromscience.org)
The Ang-1- and Ang-2-mediated changes in expression of both target genes were statistically significant at 0.01. (careersfromscience.org)
To determine whether Ang-1 and Ang-2 modulate gene expression via the Tie2/Akt pathway, we assessed the effect of Ang-1 and Ang-2 on the expression of the FOXO1 target genes Ang-2 and ESM-1 (20). (careersfromscience.org)
As shown in Fig. 5data confirms that Ang-2, like Ang-1, can activate Tie2/Akt signaling, inhibit the expression of FOXO1 target genes, and inhibit vascular leak. (careersfromscience.org)
Gene co-expression network analysis emphasizes this relationship, with pathways shared between host responses to mycobacteria and those predisposing to IBD. (bioseek.eu)
Context2
Within this context, we constructed a prognostic model of ERS-related genes, combining the risk scores in the model with clinical characteristics (age, sex, staging, etc.) to establish a nomogram, and found its performance in estimating patient survival was excellent. (biomedcentral.com)
begingroup$ Mainly to subset the papers which may be relevant to these genes in the context of this tissue, then to manually comb through them to identify cell types they might be associated with. (stackexchange.com)
List2
As a validation cohort, we assessed the MUC5AC-associated core gene list in the small airway epithelium of an independent set of healthy smokers (n = 72). (biomedcentral.com)
Mouse over or click genes or lines for details. (ucsc.edu)
FUNCTION: [Summary is not available for the mouse gene. (utsouthwestern.edu)
Analysis1
Association analysis of TGFBR3 gene with Vogt-Koyanagi-Harada disease and Behcet's disease in the Chinese Han population. (cdc.gov)
Model1
We constructed a 13-gene prognostic model for LUAD patients. (biomedcentral.com)
Study1
A study of KIR genes and HLA-C in Vogt-Koyanagi-Harada disease in Saudi Arabia. (cdc.gov)
Transcription1
This strategy identified both mucus production and secretion related genes under control of a network composed of multiple transcription factors. (biomedcentral.com)
Survival1
The protein produced from this gene plays a role in the survival and maturation of B cells and in the production of antibodies. (medlineplus.gov)
Cell1
begingroup$ Then your f'final' objective is to find which cell lines are associated with this genes? (stackexchange.com)
Terms1
Please note that certain gene sets have special access terms. (gsea-msigdb.org)