×
Entrez Id:
10020
Gene Symbol:
GNE
GNE
0.800
GeneticVariation
disease
BEFREE
UDP N-acetylglucosamine2-epimerase/N-acetylmannosamine-kinase (GNE ) gene mutations can cause mostly autosomal-recessive myopathy with juvenile-onset known as hereditary inclusion-body myopathy (HIBM ).
30990900
2019
×
Entrez Id:
10020
Gene Symbol:
GNE
GNE
0.800
GeneticVariation
disease
BEFREE
In addition, the literature on DMRV was reviewed to provide an overview of the disease and broaden the mutational spectrum of the GNE gene in China.
30112071
2018
×
Entrez Id:
10020
Gene Symbol:
GNE
GNE
0.800
GeneticVariation
disease
BEFREE
Individuals with mutations in presenilin or amyloid precursor protein (APP) gene develop AD while mutations in GNE (UDP <i>N</i>-acetylglucosamine 2 epimerase/<i>N</i>-acetyl Mannosamine kinase), key sialic acid biosynthesis enzyme, cause GNEM .
30374284
2018
×
Entrez Id:
10020
Gene Symbol:
GNE
GNE
0.800
GeneticVariation
disease
BEFREE
This finding broadens the GNE gene mutation spectrum and extends the GNE myopathy phenotype spectrum.
30160005
2018
×
Entrez Id:
10020
Gene Symbol:
GNE
GNE
0.800
GeneticVariation
disease
CLINVAR
Missing genetic variations in GNE myopathy: rearrangement hotspots encompassing 5'UTR and founder allele.
27829678
2017
×
Entrez Id:
10020
Gene Symbol:
GNE
GNE
0.800
GeneticVariation
disease
BEFREE
Further, GNE carrying the M743T mutation, the most frequent mutation in GNE myopathy , has a 10-fold lower binding affinity to α-actinin 2 than intact GNE.
27023225
2017
×
Entrez Id:
10020
Gene Symbol:
GNE
GNE
0.800
GeneticVariation
disease
CLINVAR
Identification of an Alu element-mediated deletion in the promoter region of GNE in siblings with GNE myopathy.
28717665
2017
×
Entrez Id:
10020
Gene Symbol:
GNE
GNE
0.800
GeneticVariation
disease
BEFREE
These results show that serum and muscle free SA is severely reduced in GNEM , which is consistent with the biochemical defect in SA synthesis associated with GNE mutations.
28267778
2017
×
Entrez Id:
10020
Gene Symbol:
GNE
GNE
0.800
GeneticVariation
disease
BEFREE
We report a patient with GNE myopathy with a homozygous mutation (c.1505-4G>A) in GNE gene.
27919547
2017
×
Entrez Id:
10020
Gene Symbol:
GNE
GNE
0.800
GeneticVariation
disease
CLINVAR
Safety, pharmacokinetics and sialic acid production after oral administration of N-acetylmannosamine (ManNAc) to subjects with GNE myopathy.
28641925
2017
×
Entrez Id:
10020
Gene Symbol:
GNE
GNE
0.800
GeneticVariation
disease
BEFREE
GNE myopathy is a rare autosomal recessive inheritance disease due to the mutation of GNE gene.
28284578
2017
×
Entrez Id:
10020
Gene Symbol:
GNE
GNE
0.800
GeneticVariation
disease
CLINVAR
Muscle biopsy with dystrophic pattern and rimmed vacuoles: GNE myopathy in a Brazilian patient.
28099567
2017
×
Entrez Id:
10020
Gene Symbol:
GNE
GNE
0.800
GeneticVariation
disease
BEFREE
Genetic defects of the GNE gene which encodes a critical bifunctional enzyme for sialic acid biosynthesis, lead to GNE myopathy , a disease manifesting with progressive muscle atrophy and weakness.
28505249
2017
×
Entrez Id:
10020
Gene Symbol:
GNE
GNE
0.800
GeneticVariation
disease
CLINVAR
Genetics of GNE myopathy in the non-Jewish Persian population.
25966635
2016
×
Entrez Id:
10020
Gene Symbol:
GNE
GNE
0.800
Biomarker
disease
GENOMICS_ENGLAND
Genetic defects in the hexosamine and sialic acid biosynthesis pathway.
26721333
2016
×
Entrez Id:
10020
Gene Symbol:
GNE
GNE
0.800
GeneticVariation
disease
BEFREE
Mutation of methionine 743 in the GNE leads to a 30% reduction of the enzyme activity and is responsible for an aggressive form of GNE myopathy .
27037841
2016
×
Entrez Id:
10020
Gene Symbol:
GNE
GNE
0.800
GeneticVariation
disease
BEFREE
This study confirms that c.2228T>C (p.M743T ) is the most prevalent disease-causing variant in the non-Jewish Persian population, but other GNE variants can cause GNE myopathy in this population.
25966635
2016
×
Entrez Id:
10020
Gene Symbol:
GNE
GNE
0.800
Biomarker
disease
GENOMICS_ENGLAND
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
27604308
2016
×
Entrez Id:
10020
Gene Symbol:
GNE
GNE
0.800
CausalMutation
disease
CLINVAR
Mutational spectrum and clinical features in 35 unrelated mainland Chinese patients with GNE myopathy.
25986339
2015
×
Entrez Id:
10020
Gene Symbol:
GNE
GNE
0.800
GeneticVariation
disease
CLINVAR
GNE myopathy: current update and future therapy.
25002140
2015
×
Entrez Id:
10020
Gene Symbol:
GNE
GNE
0.800
CausalMutation
disease
CLINVAR
Novel Mutation of the GNE Gene Presenting Atypical Mild Clinical Feature: A Korean Case Report.
26161358
2015
×
Entrez Id:
10020
Gene Symbol:
GNE
GNE
0.800
GeneticVariation
disease
CLINVAR
Activation of the Unfolded Protein Response in Sporadic Inclusion-Body Myositis but Not in Hereditary GNE Inclusion-Body Myopathy.
25978849
2015
×
Entrez Id:
10020
Gene Symbol:
GNE
GNE
0.800
GeneticVariation
disease
CLINVAR
Novel Pathogenic Variants in a French Cohort Widen the Mutational Spectrum of GNE Myopathy.
27858732
2015
×
Entrez Id:
10020
Gene Symbol:
GNE
GNE
0.800
CausalMutation
disease
CLINVAR
GNE myopathy in Roma patients homozygous for the p.I618T founder mutation.
26231298
2015
×
Entrez Id:
10020
Gene Symbol:
GNE
GNE
0.800
GeneticVariation
disease
BEFREE
Novel GNE mutations found in this study expanded the mutational spectrum associated with GNE myopathy .
25986339
2015