Condition: Sialuria


rs121908622 in CLTA;GNE gene and Sialuria PMID 10330343 1999 Mutations in the human UDP-N-acetylglucosamine 2-epimerase gene define the disease sialuria and the allosteric site of the enzyme.

PMID 10356312 1999 Sialuria in a Portuguese girl: clinical, biochemical, and molecular characteristics.

PMID 2808337 1989 Identification of the metabolic defect in sialuria.

PMID 11326336 2001 Dominant inheritance of sialuria, an inborn error of feedback inhibition.

PMID 12497639 2003 Mutations spectrum of GNE in hereditary inclusion body myopathy sparing the quadriceps.

PMID 11528398 2001 The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy.

PMID 21708040 2011 Molecular diagnosis of hereditary inclusion body myopathy by linkage analysis and identification of a novel splice site mutation in GNE.

PMID 23437777 2013 Novel GNE mutations in autosomal recessive hereditary inclusion body myopathy patients.

PMID 27829678 2017 Missing genetic variations in GNE myopathy: rearrangement hotspots encompassing 5'UTR and founder allele.

PMID 24796702 2014 Mutation update for GNE gene variants associated with GNE myopathy.

PMID 16810679 2006 Mutation analysis of the GNE gene in distal myopathy with rimmed vacuoles (DMRV) patients in Thailand.

PMID 20175955 2010 Clinical features, lectin staining, and a novel GNE frameshift mutation in hereditary inclusion body myopathy.

PMID 28717665 2017 Identification of an Alu element-mediated deletion in the promoter region of GNE in siblings with GNE myopathy.

PMID 24005727 2014 GNE myopathy in India.

PMID 25002140 2015 GNE myopathy: current update and future therapy.

PMID 25182749 2014 Atypical presentation of GNE myopathy with asymmetric hand weakness.

PMID 23549799 2013 Clinical characteristics and molecular genetic analysis of Korean patients with GNE myopathy.

PMID 12473753 2002 Distal myopathy with rimmed vacuoles is allelic to hereditary inclusion body myopathy.

PMID 24695763 2014 Two recurrent mutations are associated with GNE myopathy in the North of Britain.

PMID 16503651 2006 Influence of UDP-GlcNAc 2-epimerase/ManNAc kinase mutant proteins on hereditary inclusion body myopathy.

PMID 14707127 2004 Reduction of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase activity and sialylation in distal myopathy with rimmed vacuoles.

PMID 22196754 2011 Distal myopathy with rimmed vacuoles: clinical and muscle morphological characteristics and spectrum of GNE gene mutations in 53 Chinese patients.

PMID 20059379 2010 Novel GNE mutations in hereditary inclusion body myopathy patients of non-Middle Eastern descent.

rs28937594 in GNE;CLTA gene and Sialuria PMID 20300792 2010 The spectrum of GNE mutations: allelic heterogeneity for a common phenotype.

PMID 23278550 2013 Prevalence of GNE p.M712T and hereditary inclusion body myopathy (HIBM) in Sangesar population of Northern Iran.

PMID 15147877 2004 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.

PMID 11528398 2001 The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy.

PMID 15670773 2005 No overall hyposialylation in hereditary inclusion body myopathy myoblasts carrying the homozygous M712T GNE mutation.

PMID 12409274 2002 Four novel mutations associated with autosomal recessive inclusion body myopathy (MIM: 600737).

PMID 21307865 2011 Clinical and molecular genetic analysis in Chinese patients with distal myopathy with rimmed vacuoles.

PMID 26231298 2015 GNE myopathy in Roma patients homozygous for the p.I618T founder mutation.

PMID 22507750 2012 Heterozygous UDP-GlcNAc 2-epimerase and N-acetylmannosamine kinase domain mutations in the GNE gene result in a less severe GNE myopathy phenotype compared to homozygous N-acetylmannosamine kinase domain mutations.

PMID 15987957 2005 Use of a cell-free system to determine UDP-N-acetylglucosamine 2-epimerase and N-acetylmannosamine kinase activities in human hereditary inclusion body myopathy.

PMID 24136589 2014 Non-specific accumulation of glycosphingolipids in GNE myopathy.

PMID 24695763 2014 Two recurrent mutations are associated with GNE myopathy in the North of Britain.

PMID 12473769 2002 GNE mutations in an American family with quadriceps-sparing IBM and lack of mutations in s-IBM.