Mutation update for GNE gene variants associated with GNE myopathy. - Wikidata - wikimedia - TriplyDB

Mutation update for GNE gene variants associated with GNE myopathy.

Mutation update for GNE gene variants associated with GNE myopathy.

http://www.wikidata.org/entity/Q34231117

about

Aberrant O-GlcNAcylation disrupts GNE enzyme activity in GNE myopathy.New diagnostic index for sarcopenia in patients with cardiovascular diseases Effects of altered sialic acid biosynthesis on N-linked glycan branching and cell surface interactions Identification of an Alu element-mediated deletion in the promoter region of GNE in siblings with GNE myopathy.Atypical presentation of GNE myopathy with asymmetric hand weakness.Mechanism and inhibition of human UDP-GlcNAc 2-epimerase, the key enzyme in sialic acid biosynthesis.GNE Myopathy in Turkish Sisters with a Novel Homozygous Mutation Safety, pharmacokinetics and sialic acid production after oral administration of N-acetylmannosamine (ManNAc) to subjects with GNE myopathy.Patient reported outcomes in GNE myopathy: incorporating a valid assessment of physical function in a rare disease.Sialylation Is Dispensable for Early Murine Embryonic Development in Vitro.Novel Pathogenic Variants in a French Cohort Widen the Mutational Spectrum of GNE Myopathy.Aberrant sialylation causes dilated cardiomyopathy and stress-induced heart failure.The Interaction of UDP-N-Acetylglucosamine 2-Epimerase/N-Acetylmannosamine Kinase (GNE) and Alpha-Actinin 2 Is Altered in GNE Myopathy M743T Mutant.Phenotypic stratification and genotype-phenotype correlation in a heterogeneous, international cohort of GNE myopathy patients: First report from the GNE myopathy Disease Monitoring Program, registry portion.Missing genetic variations in GNE myopathy: rearrangement hotspots encompassing 5'UTR and founder allele.GNE Myopathy and Cell Apoptosis: A Comparative Mutation Analysis.Role of IGF-1R in ameliorating apoptosis of GNE deficient cells.GNE myopathy: from clinics and genetics to pathology and research strategies.Identification of a GNE homozygous mutation in a Han-Chinese family with GNE myopathy

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Mutation update for GNE gene variants associated with GNE myopathy.

http://www.wikidata.org/entity/Q34231117

description

2014 nî lūn-bûn

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2014 թուականի Օգոստոսին հրատարակուած գիտական յօդուած

@hyw

2014 թվականի օգոստոսին հրատարակված գիտական հոդված

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2014年の論文

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2014年論文

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2014年論文

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2014年論文

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2014年論文

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2014年論文

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2014年论文

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name

Mutation update for GNE gene variants associated with GNE myopathy.

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Mutation update for GNE gene variants associated with GNE myopathy.

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Mutation update for GNE gene variants associated with GNE myopathy.

@nl

type

label

Mutation update for GNE gene variants associated with GNE myopathy.

@ast

Mutation update for GNE gene variants associated with GNE myopathy.

@en

Mutation update for GNE gene variants associated with GNE myopathy.

@nl

prefLabel

Mutation update for GNE gene variants associated with GNE myopathy.

@ast

Mutation update for GNE gene variants associated with GNE myopathy.

@en

Mutation update for GNE gene variants associated with GNE myopathy.

@nl

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Mutation update for GNE gene variants associated with GNE myopathy

@en

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Carla Ciccone

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Frank V Celeste

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John C McKew

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John Karl de Dios

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Marjan Huizing

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May Christine V Malicdan

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Petcharat Leoyklang

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Thierry Vilboux

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William A Gahl

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P2860

An integrated map of genetic variation from 1,092 human genomes

Dominant inheritance of sialuria, an inborn error of feedback inhibition

Mutations in the human UDP-N-acetylglucosamine 2-epimerase gene define the disease sialuria and the allosteric site of the enzyme

Computational approaches for predicting the biological effect of p53 missense mutations: a comparison of three sequence analysis based methods

Crystal Structure of the N-Acetylmannosamine Kinase Domain of GNE

Crystal Structures of N -Acetylmannosamine Kinase Provide Insights into Enzyme Activity and Inhibition

A method and server for predicting damaging missense mutations

Primary structure and expression analysis of human UDP-N-acetyl-glucosamine-2-epimerase/N-acetylmannosamine kinase, the bifunctional enzyme in neuraminic acid biosynthesis

Nonaka myopathy is caused by mutations in the UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase gene (GNE)

Four novel mutations associated with autosomal recessive inclusion body myopathy (MIM: 600737)

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915-926

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scholarly article

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10.1002/HUMU.22583

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8

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35

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Nuria Carrillo-Carrasco

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2014-08-01T00:00:00Z

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24796702

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