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Neonatal diabetes: an expanding list of genes allows for improved diagnosis and treatmentWolfram gene (WFS1) mutation causes autosomal dominant congenital nuclear cataract in humansWolfram syndrome: new mutations, different phenotypeCongenital central diabetes insipidus and optic atrophy in a Wolfram newborn: is there a role for WFS1 gene in neurodevelopment?Many faces of monogenic diabetesWfs1 is expressed in dopaminoceptive regions of the amniote brain and modulates levels of D1-like receptors.Atypical case of Wolfram syndrome revealed through targeted exome sequencing in a patient with suspected mitochondrial disease.Early brain vulnerability in Wolfram syndrome.A WFS1 haplotype consisting of the minor alleles of rs752854, rs10010131, and rs734312 shows a protective role against type 2 diabetes in Russian patients.Impairment of visual function and retinal ER stress activation in Wfs1-deficient mice.Prohormone convertase 2 activity is increased in the hippocampus of Wfs1 knockout mice.Layer 2/3 pyramidal cells in the medial prefrontal cortex moderate stress induced depressive behaviors.Probing the stress and depression circuits with a disease gene.Phenotype Prediction of Pathogenic Nonsynonymous Single Nucleotide Polymorphisms in WFS1Hippocampal Transcriptomic and Proteomic Alterations in the BTBR Mouse Model of Autism Spectrum Disorder.A Challenging Form of Non-autoimmune Insulin-Dependent Diabetes in a Wolfram Syndrome Patient with a Novel Sequence Variant.Monogenic Diabetes: What It Teaches Us on the Common Forms of Type 1 and Type 2 Diabetes.Autosomal dominant diabetes arising from a Wolfram syndrome 1 mutation.Clinical and Molecular Genetic Analysis in Three Children with Wolfram Syndrome: A Novel WFS1 Mutation (c.2534T>A)The role of pancreatic imaging in monogenic diabetes mellitus.Association of aggression with a novel microRNA binding site polymorphism in the wolframin gene.Identification of four novel mutations of the WFS1 gene in Iranian Wolfram syndrome pedigrees.Identification of a novel WFS1 homozygous nonsense mutation in Jordanian children with Wolfram syndrome.A Case of Persistent Polyuria in an Insulin- Dependent Child With Diabetes.Wfs1- deficient rats develop primary symptoms of Wolfram syndrome: insulin-dependent diabetes, optic nerve atrophy and medullary degeneration.Ophthalmic manifestations of endocrine disorders-endocrinology and the eye.Novel homozygous mutation in exon 5 of WFS1 gene in an Apulian family with mild phenotypic expression of Wolfram syndrome.Whole-exome sequencing identified a missense mutation in WFS1 causing low-frequency hearing loss: a case report.A novel heterozygous mutation of the WFS1 gene leading to constitutive endoplasmic reticulum stress is the cause of Wolfram syndrome.Knockdown of wfs1, a fly homolog of Wolfram syndrome 1, in the nervous system increases susceptibility to age- and stress-induced neuronal dysfunction and degeneration in Drosophila.Oligomerised lychee fruit-derived polyphenol attenuates cognitive impairment in senescence-accelerated mice and endoplasmic reticulum stress in neuronal cells.Nutrient sensing in pancreatic islets: lessons from congenital hyperinsulinism and monogenic diabetes.WFS1 mutations in hearing-impaired children.A novel mutation of WFS1 gene in a Chinese patient with Wolfram syndrome: a case report.WFS1 mutation screening in a large series of Japanese hearing loss patients: Massively parallel DNA sequencing-based analysis.Expansion of the clinical ocular spectrum of Wolfram Syndrome in a family carrying a novel WFS1 gene deletion.
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P2860
description
article científic
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article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
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scientific article published on 26 August 2010
@en
vedecký článok
@sk
vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
Wolfram syndrome and WFS1 gene.
@en
Wolfram syndrome and WFS1 gene.
@nl
type
label
Wolfram syndrome and WFS1 gene.
@en
Wolfram syndrome and WFS1 gene.
@nl
prefLabel
Wolfram syndrome and WFS1 gene.
@en
Wolfram syndrome and WFS1 gene.
@nl
P2093
P2860
P1433
P1476
Wolfram syndrome and WFS1 gene.
@en
P2093
P2860
P304
P356
10.1111/J.1399-0004.2010.01522.X
P577
2010-08-26T00:00:00Z