Loss of kinase activity in a patient with Wolcott-Rallison syndrome caused by a novel mutation in the EIF2AK3 gene
about
Wolcott-Rallison syndrome with 3-hydroxydicarboxylic aciduria and lethal outcomeThe EIF2AK3 gene region and type I diabetes in subjects from South IndiaInhibition of proliferation by PERK regulates mammary acinar morphogenesis and tumor formation.Many faces of monogenic diabetesFrequency and spectrum of Wolcott-Rallison syndrome in Saudi Arabia: a systematic review.Monogenic syndromes of abnormal glucose homeostasis: clinical review and relevance to the understanding of the pathology of insulin resistance and beta cell failure.Intersection of the unfolded protein response and hepatic lipid metabolismExplorations of substituted urea functionality for the discovery of new activators of the heme-regulated inhibitor kinaseDiscovering All Transcriptome Single-Nucleotide Polymorphisms and Scanning for Selection Signatures in Ducks (Anas platyrhynchos).Potential for therapeutic manipulation of the UPR in disease.Chemical genetics identify eIF2α kinase heme-regulated inhibitor as an anticancer targetDevelopment of 1-((1,4-trans)-4-Aryloxycyclohexyl)-3-arylurea Activators of Heme-Regulated Inhibitor as Selective Activators of the Eukaryotic Initiation Factor 2 Alpha (eIF2α) Phosphorylation Arm of the Integrated Endoplasmic Reticulum Stress RespoProtein misfolding in the endoplasmic reticulum as a conduit to human disease.Two novel mutations in the EIF2AK3 gene in children with Wolcott-Rallison syndrome.A Novel Single-Nucleotide Deletion (c.1020delA) in NSUN2 Causes Intellectual Disability in an Emirati Child.Endoplasmic reticulum stress response mediated by the PERK-eIF2(alpha)-ATF4 pathway is involved in osteoblast differentiation induced by BMP2Wolcott-Rallison syndrome due to a novel mutation (R491X) in EIF2AK3 gene.Recurrent Hepatitis in Two Iranian Children: A Novel (Q166R) Mutation in EIF2AK3 Leading to Wolcott-Rallison Syndrome.EIF2AK3 mutations in South Indian children with permanent neonatal diabetes mellitus associated with Wolcott-Rallison syndrome.Phenotypic and genetic analyses of subcongenic BB.SHR rat lines shorten the region on chromosome 4 bearing gene(s) for underlying facets of metabolic syndrome.A homozygous IER3IP1 mutation causes microcephaly with simplified gyral pattern, epilepsy, and permanent neonatal diabetes syndrome (MEDS).
P2860
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P2860
Loss of kinase activity in a patient with Wolcott-Rallison syndrome caused by a novel mutation in the EIF2AK3 gene
description
2002 nî lūn-bûn
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2002 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
2002 թվականի հուլիսին հրատարակված գիտական հոդված
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2002年の論文
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2002年論文
@yue
2002年論文
@zh-hant
2002年論文
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2002年論文
@zh-mo
2002年論文
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2002年论文
@wuu
name
Loss of kinase activity in a p ...... l mutation in the EIF2AK3 gene
@ast
Loss of kinase activity in a p ...... l mutation in the EIF2AK3 gene
@en
Loss of kinase activity in a p ...... l mutation in the EIF2AK3 gene
@en-gb
Loss of kinase activity in a p ...... l mutation in the EIF2AK3 gene
@nl
type
label
Loss of kinase activity in a p ...... l mutation in the EIF2AK3 gene
@ast
Loss of kinase activity in a p ...... l mutation in the EIF2AK3 gene
@en
Loss of kinase activity in a p ...... l mutation in the EIF2AK3 gene
@en-gb
Loss of kinase activity in a p ...... l mutation in the EIF2AK3 gene
@nl
prefLabel
Loss of kinase activity in a p ...... l mutation in the EIF2AK3 gene
@ast
Loss of kinase activity in a p ...... l mutation in the EIF2AK3 gene
@en
Loss of kinase activity in a p ...... l mutation in the EIF2AK3 gene
@en-gb
Loss of kinase activity in a p ...... l mutation in the EIF2AK3 gene
@nl
P2093
P921
P1433
P1476
Loss of kinase activity in a p ...... l mutation in the EIF2AK3 gene
@en
P2093
Anna Biason-Lauber
Eugen J Schoenle
Mariarosaria Lang-Muritano
Tindara Vaccaro
P304
P356
10.2337/DIABETES.51.7.2301
P407
P577
2002-07-01T00:00:00Z