Wolfram syndrome: structural and functional analyses of mutant and wild-type wolframin, the WFS1 gene product.
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Wolframin expression induces novel ion channel activity in endoplasmic reticulum membranes and increases intracellular calciumSodium-potassium ATPase 1 subunit is a molecular partner of Wolframin, an endoplasmic reticulum protein involved in ER stressWFS1 protein modulates the free Ca(2+) concentration in the endoplasmic reticulumWolfram gene (WFS1) mutation causes autosomal dominant congenital nuclear cataract in humansWolfram syndrome: new mutations, different phenotypeWfs1 gene deletion causes growth retardation in mice and interferes with the growth hormone pathwayRecent Insights into the Role of Unfolded Protein Response in ER Stress in Health and Disease.Visual tuning properties of genetically identified layer 2/3 neuronal types in the primary visual cortex of cre-transgenic miceMicro-RNA Binding Site Polymorphisms in the WFS1 Gene Are Risk Factors of Diabetes Mellitus.Prohormone convertase 2 activity is increased in the hippocampus of Wfs1 knockout mice.Phenotype Prediction of Pathogenic Nonsynonymous Single Nucleotide Polymorphisms in WFS1Wolfram syndrome - clinical and diagnostic details.Analysis of metabolic effects of menthol on WFS1-deficient mice.RNA-sequencing of WFS1-deficient pancreatic islets.Eukaryotic initiation factor 2 phosphorylation and translational control in metabolism.Wolfram Syndrome protein, Miner1, regulates sulphydryl redox status, the unfolded protein response, and Ca2+ homeostasisAutosomal dominant diabetes arising from a Wolfram syndrome 1 mutation.Male mice with deleted Wolframin (Wfs1) gene have reduced fertility.Expression of the diabetes risk gene wolframin (WFS1) in the human retina.Endoplasmic reticulum stress in beta-cells and development of diabetes.Modulation of wolframin expression in human placenta during pregnancy: comparison among physiological and pathological states.The binary switch between life and death of endoplasmic reticulum-stressed beta cellsClinical and Molecular Genetic Analysis in Three Children with Wolfram Syndrome: A Novel WFS1 Mutation (c.2534T>A)WS1 gene mutation analysis of Wolfram syndrome in a Chinese patient and a systematic review of literatures.A switch from life to death in endoplasmic reticulum stressed β-cells.The binary switch that controls the life and death decisions of ER stressed β cells.Endocrine and metabolic aspects of the Wolfram syndrome.Genetics of hearing loss: where are we standing now?Hypothalamic gene expression profile indicates a reduction in G protein signaling in the Wfs1 mutant mice.Rare diseases in clinical endocrinology: a taxonomic classification system.Silencing of the WFS1 gene in HEK cells induces pathways related to neurodegeneration and mitochondrial damage.Identification of a novel WFS1 homozygous nonsense mutation in Jordanian children with Wolfram syndrome.Visualization of inositol 1,4,5-trisphosphate receptors on the nuclear envelope outer membrane by freeze-drying and rotary shadowing for electron microscopy.WFS1 is a novel component of the unfolded protein response and maintains homeostasis of the endoplasmic reticulum in pancreatic beta-cells.Diabetes and neurodegeneration in Wolfram syndrome: a multicenter study of phenotype and genotypeWFS1 variants in Finnish patients with diabetes mellitus, sensorineural hearing impairment or optic atrophy, and in suicide victims.A novel heterozygous mutation of the WFS1 gene leading to constitutive endoplasmic reticulum stress is the cause of Wolfram syndrome.Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype.Multicapillary gel electrophoresis based analysis of genetic variants in the WFS1 gene.The subtle signs of Wolfram (DIDMOAD) syndrome: not all juvenile diabetes is type 1 diabetes.
P2860
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P2860
Wolfram syndrome: structural and functional analyses of mutant and wild-type wolframin, the WFS1 gene product.
description
2003 nî lūn-bûn
@nan
2003年の論文
@ja
2003年学术文章
@wuu
2003年学术文章
@zh
2003年学术文章
@zh-cn
2003年学术文章
@zh-hans
2003年学术文章
@zh-my
2003年学术文章
@zh-sg
2003年學術文章
@yue
2003年學術文章
@zh-hant
name
Wolfram syndrome: structural a ...... framin, the WFS1 gene product.
@en
Wolfram syndrome: structural a ...... framin, the WFS1 gene product.
@nl
type
label
Wolfram syndrome: structural a ...... framin, the WFS1 gene product.
@en
Wolfram syndrome: structural a ...... framin, the WFS1 gene product.
@nl
prefLabel
Wolfram syndrome: structural a ...... framin, the WFS1 gene product.
@en
Wolfram syndrome: structural a ...... framin, the WFS1 gene product.
@nl
P2093
P356
P1476
Wolfram syndrome: structural a ...... framin, the WFS1 gene product.
@en
P2093
Christine Philbrook
Klaus-Dieter Gerbitz
Matthias F Bauer
Sabine Hofmann
P304
P356
10.1093/HMG/DDG214
P577
2003-08-01T00:00:00Z