Mutations in GLIS3 are responsible for a rare syndrome with neonatal diabetes mellitus and congenital hypothyroidism.
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Genome-wide association study identifies five new susceptibility loci for primary angle closure glaucomaGli-similar (Glis) Krüppel-like zinc finger proteins: insights into their physiological functions and critical roles in neonatal diabetes and cystic renal diseaseGenome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetesGenome-edited human stem cell-derived beta cells: a powerful tool for drilling down on type 2 diabetes GWAS biologyInfantile onset diabetes mellitus in developing countries - IndiaMECHANISMS IN ENDOCRINOLOGY: Alternative splicing: the new frontier in diabetes researchA polycystin-centric view of cyst formation and disease: the polycystins revisitedLong non-coding RNAs as regulators of the endocrine systemNext generation sequencing in endocrine practiceNeonatal diabetes: an expanding list of genes allows for improved diagnosis and treatmentPathogenesis of the metabolic syndrome: insights from monogenic disordersGenetics and pathophysiology of neonatal diabetes mellitus.Long Noncoding RNAs in Metabolic Syndrome Related DisordersNew genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes riskThe Krüppel-like zinc finger protein Glis3 directly and indirectly activates insulin gene transcriptionKruppel-like zinc finger protein Glis2 is essential for the maintenance of normal renal functionsIdentification of nuclear localization, DNA binding, and transactivating mechanisms of Kruppel-like zinc finger protein Gli-similar 2 (Glis2)GLIS3, a susceptibility gene for type 1 and type 2 diabetes, modulates pancreatic beta cell apoptosis via regulation of a splice variant of the BH3-only protein BimEffects of 16 genetic variants on fasting glucose and type 2 diabetes in South Asians: ADCY5 and GLIS3 variants may predispose to type 2 diabetesFollow-up analysis of genome-wide association data identifies novel loci for type 1 diabetes.Long noncoding RNA variations in cardiometabolic diseases.Can non-HLA Single Nucleotide Polymorphisms Help Stratify Risk in TrialNet Relatives at Risk for Type 1 Diabetes?Human β cell transcriptome analysis uncovers lncRNAs that are tissue-specific, dynamically regulated, and abnormally expressed in type 2 diabetesGenome-wide association study for renal traits in the Framingham Heart and Atherosclerosis Risk in Communities StudiesDistribution and effects of nonsense polymorphisms in human genes.Polycystic kidney disease in the medaka (Oryzias latipes) pc mutant caused by a mutation in the Gli-Similar3 (glis3) gene.Characterization of the tandem CWCH2 sequence motif: a hallmark of inter-zinc finger interactionsMany faces of monogenic diabetesRecessive mutations in the INS gene result in neonatal diabetes through reduced insulin biosynthesis.Neonatal diabetes mellitus: a model for personalized medicineTRANSCRIPTION FACTOR GLI-SIMILAR 3 (GLIS3): IMPLICATIONS FOR THE DEVELOPMENT OF CONGENITAL HYPOTHYROIDISM.Wolcott-Rallison syndromeFunctional analysis of Rfx6 and mutant variants associated with neonatal diabetes.Revealing transcription factors during human pancreatic β cell development.Exome sequencing and genetic testing for MODY.Frequency and spectrum of Wolcott-Rallison syndrome in Saudi Arabia: a systematic review.A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid functionGenomic analysis of fibrolamellar hepatocellular carcinoma.Permanent Neonatal Diabetes and Enteric Anendocrinosis Associated With Biallelic Mutations in NEUROG3.Permanent diabetes during the first year of life: multiple gene screening in 54 patients
P2860
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P2860
Mutations in GLIS3 are responsible for a rare syndrome with neonatal diabetes mellitus and congenital hypothyroidism.
description
2006 nî lūn-bûn
@nan
2006年の論文
@ja
2006年学术文章
@wuu
2006年学术文章
@zh
2006年学术文章
@zh-cn
2006年学术文章
@zh-hans
2006年学术文章
@zh-my
2006年学术文章
@zh-sg
2006年學術文章
@yue
2006年學術文章
@zh-hant
name
Mutations in GLIS3 are respons ...... and congenital hypothyroidism.
@en
Mutations in GLIS3 are respons ...... and congenital hypothyroidism.
@nl
type
label
Mutations in GLIS3 are respons ...... and congenital hypothyroidism.
@en
Mutations in GLIS3 are respons ...... and congenital hypothyroidism.
@nl
prefLabel
Mutations in GLIS3 are respons ...... and congenital hypothyroidism.
@en
Mutations in GLIS3 are respons ...... and congenital hypothyroidism.
@nl
P2093
P2860
P50
P356
P1433
P1476
Mutations in GLIS3 are respons ...... and congenital hypothyroidism
@en
P2093
Céline Charon
Daorong Feng
Doris Taha
Douglas R Cavener
Hervé Blanc
Jack-Christophe Cossec
Marc Nicolino
Sabine Duchatelet
P2860
P2888
P304
P356
10.1038/NG1802
P407
P577
2006-05-21T00:00:00Z