|
NONAKA MYOPATHY
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
Loss of GNE activity in HIBM is thought to impair sialic acid production and interfere with proper sialylation of glycoconjugates, but it remains unclear how such a defect would lead to muscle destruction and muscle weakness.
|
14972325 |
2004 |
|
NONAKA MYOPATHY
|
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 |
|
NONAKA MYOPATHY
|
0.800 |
Biomarker
|
disease |
BEFREE |
If further confirmed in larger series of patients, this may be a useful diagnostic marker of GNE-related HIBM.
|
16534119 |
2006 |
|
NONAKA MYOPATHY
|
0.800 |
Biomarker
|
disease |
BEFREE |
We have also evaluated the involvement of GNE in several families from worldwide non-Jewish ethnic origins presenting symptoms similar to the Middle Eastern HIBM prototype.
|
12497639 |
2003 |
|
NONAKA MYOPATHY
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Study of the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene (GNE) revealed that almost all cases of distal myopathy with rimmed vacuoles were caused by GNE mutations.
|
15136692 |
2004 |
|
NONAKA MYOPATHY
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The compound heterozygous mutations in the epimerase domain of the GNE gene are important in the severe phenotype of DMRV.
|
17098358 |
2007 |
|
NONAKA MYOPATHY
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
Reduction of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase activity and sialylation in distal myopathy with rimmed vacuoles.
|
14707127 |
2004 |
|
NONAKA MYOPATHY
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Clinical features, lectin staining, and a novel GNE frameshift mutation in hereditary inclusion body myopathy.
|
20175955 |
2010 |
|
NONAKA MYOPATHY
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy.
|
11528398 |
2001 |
|
NONAKA MYOPATHY
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Novel missense mutation p.A310P in the GNE gene in autosomal-recessive hereditary inclusion-body myopathy/distal myopathy with rimmed vacuoles in an Italian family.
|
20346669 |
2010 |
|
NONAKA MYOPATHY
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
GNE myopathy is a rare and mildly progressive autosomal recessive myopathy caused by GNE mutations.
|
23127962 |
2013 |
|
NONAKA MYOPATHY
|
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 |
|
NONAKA MYOPATHY
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations associated with sialuria are located in the epimerase domain, and those associated with IBM2 are in the epimerase or the kinase domain or both, whereas the mutations we observed in the Nonaka myopathy patients were located in the sugar kinase domain of the gene.
|
11916006 |
2002 |
|
NONAKA MYOPATHY
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Recently, mutations of the UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (GNE) gene were reported to cause hereditary inclusion body myopathy and one type of distal myopathy in a world-wide distribution.
|
14678807 |
2003 |
|
NONAKA MYOPATHY
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
AR HIBM is associated with mutations in the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene (GNE) on chromosome 9p12-13.
|
15146476 |
2004 |
|
NONAKA MYOPATHY
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutation analysis of the GNE gene in Korean patients with distal myopathy with rimmed vacuoles.
|
16372135 |
2006 |
|
NONAKA MYOPATHY
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A Japanese patient with distal myopathy with rimmed vacuoles: missense mutations in the epimerase domain of the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) gene accompanied by hyposialylation of skeletal muscle glycoproteins.
|
14733963 |
2004 |
|
NONAKA MYOPATHY
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The identification of a homozygous c. 1714G>C (p. V572L) mutation in the GNE gene genetically confirmed the diagnosis of DMRV, which is thought to be identical to hereditary inclusion body myopathy (HIBM).
|
16503389 |
2006 |
|
NONAKA MYOPATHY
|
0.800 |
Biomarker
|
disease |
BEFREE |
IBM2 is also known as distal myopathy with rimmed vacuoles or nonaka myopathy.
|
20059379 |
2010 |
|
NONAKA MYOPATHY
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations of the UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine-kinase (GNE)-gene are causally related to GNE myopathy.
|
23496965 |
2013 |
|
NONAKA MYOPATHY
|
0.800 |
Biomarker
|
disease |
BEFREE |
The GNE gene was sequenced in 34 patients with DMRV.
|
12473753 |
2002 |
|
NONAKA MYOPATHY
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
By combining pathological studies and candidate gene screening, we identified a patient with GNE myopathy due to novel GNE compound heterozygous mutations.
|
23558691 |
2013 |
|
NONAKA MYOPATHY
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The results of the present study indicate that GNE gene mutations and probably modifier gene(s) or additional factors may result in different phenotypes of DMRV.
|
15834044 |
2005 |
|
NONAKA MYOPATHY
|
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 |
|
NONAKA MYOPATHY
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Distal myopathy with rimmed vacuoles (DMRV) or hereditary inclusion myopathy (h-IBM) is an early adult-onset distal myopathy caused by mutations in the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) gene which encodes for a bifunctional enzyme involved in sialic acid biosynthesis.
|
17164266 |
2007 |