rs28937594
|
|
|
0.900 |
GeneticVariation |
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 |
rs28937594
|
|
|
0.900 |
GeneticVariation |
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 |
rs28937594
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Furthermore, infection of primary muscle cells from a GNE myopathy patient carrying the homozygous M712T mutation, with an AAV8-based viral vector carrying a human-directed TS construct, resulted in the generation of wild-type GNE transcripts in addition to the mutated ones.
|
24264357 |
2014 |
rs28937594
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Prevalence of GNE p.M712T and hereditary inclusion body myopathy (HIBM) in Sangesar population of Northern Iran.
|
23278550 |
2013 |
rs28937594
|
|
G |
0.900 |
CausalMutation |
CLINVAR |
Prevalence of GNE p.M712T and hereditary inclusion body myopathy (HIBM) in Sangesar population of Northern Iran.
|
23278550 |
2013 |
rs28937594
|
|
|
0.900 |
GeneticVariation |
BEFREE |
The most frequent mutation in GNE myopathy patients is the Middle Eastern founder mutation M712T.
|
23238814 |
2013 |
rs28937594
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Here we test potential sialylation-increasing monosaccharides for their effectiveness in prophylaxis (at the embryonic and neonatal stages) and therapy (after the onset of symptoms) by evaluating renal and muscle hyposialylation in a knock-in mouse model (Gne p.M712T) of GNE myopathy.
|
23122659 |
2012 |
rs28937594
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Biochemical characterization of the M712T-mutation of the UDP-N-acetylglucosamine 2-epimerase/N-acetyl-mannosaminekinase in hereditary inclusion body myopathy.
|
21873062 |
2011 |
rs28937594
|
|
|
0.900 |
GeneticVariation |
BEFREE |
The Persian-Jewish HIBM founder mutation p.M712T is located at the interface alpha4alpha10 and likely affects GlcNAc, Mg2+, and ATP binding.
|
19917666 |
2010 |
rs28937594
|
|
G |
0.900 |
CausalMutation |
CLINVAR |
The spectrum of GNE mutations: allelic heterogeneity for a common phenotype.
|
20300792 |
2010 |
rs28937594
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Hereditary inclusion body myopathy/distal myopathy with rimmed vacuoles is an adult onset autosomal recessive muscle-wasting disease common in people of Iranian-Jewish descent, due to the founder allelic variant GNE:p.M712T.
|
18373408 |
2008 |
rs28937594
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Since the underlying myopathological mechanism leading to the disease phenotype is poorly understood, we have established human myoblasts cultures, derived from HIBM satellite cells carrying the homozygous M712T mutation, and identified cellular and molecular characteristics of these cells.
|
17673919 |
2007 |
rs28937594
|
|
|
0.900 |
GeneticVariation |
BEFREE |
No overall hyposialylation in hereditary inclusion body myopathy myoblasts carrying the homozygous M712T GNE mutation.
|
15670773 |
2005 |
rs28937594
|
|
G |
0.900 |
CausalMutation |
CLINVAR |
No overall hyposialylation in hereditary inclusion body myopathy myoblasts carrying the homozygous M712T GNE mutation.
|
15670773 |
2005 |
rs28937594
|
|
G |
0.900 |
CausalMutation |
CLINVAR |
The homozygous M712T mutation of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase results in reduced enzyme activities but not in altered overall cellular sialylation in hereditary inclusion body myopathy.
|
15147877 |
2004 |
rs28937594
|
|
|
0.900 |
GeneticVariation |
BEFREE |
The homozygous M712T mutation of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase results in reduced enzyme activities but not in altered overall cellular sialylation in hereditary inclusion body myopathy.
|
15147877 |
2004 |
rs28937594
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Seven new mutations were identified, including M712T, which is the most common mutation in Jewish hereditary inclusion body myopathy.
|
15136692 |
2004 |
rs28937594
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
Novel GNE mutations in Italian families with autosomal recessive hereditary inclusion-body myopathy.
|
15146476 |
2004 |
rs28937594
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
Mutations spectrum of GNE in hereditary inclusion body myopathy sparing the quadriceps.
|
12497639 |
2003 |
rs28937594
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
GNE mutations causing distal myopathy with rimmed vacuoles with inflammation.
|
12913203 |
2003 |
rs28937594
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
Novel missense mutation and large deletion of GNE gene in autosomal-recessive inclusion-body myopathy.
|
12811782 |
2003 |
rs28937594
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
GNE mutations in an American family with quadriceps-sparing IBM and lack of mutations in s-IBM.
|
12473769 |
2002 |
rs28937594
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
Distal myopathy with rimmed vacuoles is allelic to hereditary inclusion body myopathy.
|
12473753 |
2002 |
rs28937594
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
Distal myopathy with rimmed vacuoles: novel mutations in the GNE gene.
|
12177386 |
2002 |
rs28937594
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
An Italian family with autosomal recessive inclusion-body myopathy and mutations in the GNE gene.
|
12473780 |
2002 |