Mutations at the BLK locus linked to maturity onset diabetes of the young and beta-cell dysfunction.
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Maturity-Onset Diabetes of the Young: What Do Clinicians Need to Know?New opportunities: harnessing induced pluripotency for discovery in diabetes and metabolismUndiagnosed MODY: Time for ActionPhenotype and Tissue Expression as a Function of Genetic Risk in Polycystic Ovary SyndromeMany faces of monogenic diabetesAssessing the phenotypic effects in the general population of rare variants in genes for a dominant Mendelian form of diabetes.Distinct regulation of hepatic nuclear factor 1alpha by NKX6.1 in pancreatic beta cells.The pseudokinase tribbles homolog 3 interacts with ATF4 to negatively regulate insulin exocytosis in human and mouse beta cells.Gene-specific function prediction for non-synonymous mutations in monogenic diabetes genes.A broad activity screen in support of a chemogenomic map for kinase signalling research and drug discovery.A co-association network analysis of the genetic determination of pig conformation, growth and fatness.Replication and meta-analysis of GWAS identified susceptibility loci in Kawasaki disease confirm the importance of B lymphoid tyrosine kinase (BLK) in disease susceptibility.Reduced B lymphoid kinase (Blk) expression enhances proinflammatory cytokine production and induces nephrosis in C57BL/6-lpr/lpr mice.Maturity onset diabetes of the young in India - a distinctive mutation pattern identified through targeted next-generation sequencing.Concordance of increased B1 cell subset and lupus phenotypes in mice and humans is dependent on BLK expression levels.Dysfunctional BLK in common variable immunodeficiency perturbs B-cell proliferation and ability to elicit antigen-specific CD4+ T-cell help.The origin, global distribution, and functional impact of the human 8p23 inversion polymorphism.Searching for "monogenic diabetes" in dogs using a candidate gene approachTranscriptional Regulation of the Pancreatic Islet: Implications for Islet Function.The autoimmunity-associated BLK haplotype exhibits cis-regulatory effects on mRNA and protein expression that are prominently observed in B cells early in development.Altered B cell homeostasis is associated with type I diabetes and carriers of the PTPN22 allelic variant.Specification of hepatopancreas progenitors in zebrafish by hnf1ba and wnt2bb.Molecular diagnosis of maturity onset diabetes of the young in India.Comprehensive Maturity Onset Diabetes of the Young (MODY) Gene Screening in Pregnant Women with Diabetes in India.Genetic susceptibility to type 2 diabetes and obesity: follow-up of findings from genome-wide association studies.The role of pancreatic imaging in monogenic diabetes mellitus.Unraveling the genetic component of systemic sclerosis.The endocrine pancreas: insights into development, differentiation, and diabetes.Proteome-wide analysis of nonsynonymous single-nucleotide variations in active sites of human proteins.Blk haploinsufficiency impairs the development, but enhances the functional responses, of MZ B cells.Fine mapping and conditional analysis identify a new mutation in the autoimmunity susceptibility gene BLK that leads to reduced half-life of the BLK protein.Near-infrared fluorescent probe for imaging of pancreatic beta cells.Healthy first-degree relatives of patients with type 1 diabetes exhibit significant differences in basal gene expression pattern of immunocompetent cells compared to controls: expression pattern as predeterminant of autoimmune diabetes.Mutations in the genes encoding the transcription factors hepatocyte nuclear factor 1 alpha and 4 alpha in maturity-onset diabetes of the young and hyperinsulinemic hypoglycemia.Reassessment of the putative role of BLK-p.A71T loss-of-function mutation in MODY and type 2 diabetes.Combined chemical genetics and data-driven bioinformatics approach identifies receptor tyrosine kinase inhibitors as host-directed antimicrobials.Comprehensive genomic analysis identifies pathogenic variants in maturity-onset diabetes of the young (MODY) patients in South India.Glucokinase mutations in pediatric patients with impaired fasting glucose.The glucokinase mutation p.T206P is common among MODY patients of Jewish Ashkenazi descent.Large-scale computational drug repositioning to find treatments for rare diseases.
P2860
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P2860
Mutations at the BLK locus linked to maturity onset diabetes of the young and beta-cell dysfunction.
description
2009 nî lūn-bûn
@nan
2009 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2009 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
2009年の論文
@ja
2009年論文
@yue
2009年論文
@zh-hant
2009年論文
@zh-hk
2009年論文
@zh-mo
2009年論文
@zh-tw
2009年论文
@wuu
name
Mutations at the BLK locus lin ...... oung and beta-cell dysfunction
@nl
Mutations at the BLK locus lin ...... ung and beta-cell dysfunction.
@ast
Mutations at the BLK locus lin ...... ung and beta-cell dysfunction.
@en
Mutations at the BLK locus lin ...... ung and beta-cell dysfunction.
@en-gb
type
label
Mutations at the BLK locus lin ...... oung and beta-cell dysfunction
@nl
Mutations at the BLK locus lin ...... ung and beta-cell dysfunction.
@ast
Mutations at the BLK locus lin ...... ung and beta-cell dysfunction.
@en
Mutations at the BLK locus lin ...... ung and beta-cell dysfunction.
@en-gb
prefLabel
Mutations at the BLK locus lin ...... oung and beta-cell dysfunction
@nl
Mutations at the BLK locus lin ...... ung and beta-cell dysfunction.
@ast
Mutations at the BLK locus lin ...... ung and beta-cell dysfunction.
@en
Mutations at the BLK locus lin ...... ung and beta-cell dysfunction.
@en-gb
P2093
P2860
P356
P1476
Mutations at the BLK locus lin ...... ung and beta-cell dysfunction.
@en
P2093
Andrzej S Krolewski
Arun Sharma
Chong W Liew
Ilham El Khattabi
Josyf C Mychaleckyj
Maciej Borowiec
Michele Sale
Rohit N Kulkarni
Ryan Thompson
P2860
P304
14460-14465
P356
10.1073/PNAS.0906474106
P407
P577
2009-08-10T00:00:00Z