Condition: Muscle eye brain disease
rs190057175 in
POMGNT1;TSPAN1 gene and
Muscle eye brain disease
PMID 22323514 2012 Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies.
PMID 23326386 2013 Comprehensive mutation analysis for congenital muscular dystrophy: a clinical PCR-based enrichment and next-generation sequencing panel.
PMID 17559086 2007 Molecular heterogeneity in fetal forms of type II lissencephaly.
PMID 18330676 2008 Novel synonymous substitution in POMGNT1 promotes exon skipping in a patient with congenital muscular dystrophy.
PMID 21361872 2011 Biochemical correlation of activity of the α-dystroglycan-modifying glycosyltransferase POMGnT1 with mutations in muscle-eye-brain disease.
PMID 15466003 2004 POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain disease.
PMID 23453855 2013 Molecular diagnosis of congenital muscular dystrophies with defective glycosylation of alpha-dystroglycan using next-generation sequencing technology.
PMID 17906881 2007 Novel POMGnT1 mutations define broader phenotypic spectrum of muscle-eye-brain disease.
PMID 19067344 2008 Brain involvement in muscular dystrophies with defective dystroglycan glycosylation.
PMID 11709191 2001 Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1.
PMID 12788071 2003 Loss-of-function of an N-acetylglucosaminyltransferase, POMGnT1, in muscle-eye-brain disease.
PMID 12849864 2003 Enzymatic diagnostic test for Muscle-Eye-Brain type congenital muscular dystrophy using commercially available reagents.
PMID 22554691 2012 Novel POMGNT1 point mutations and intragenic rearrangements associated with muscle-eye-brain disease.
PMID 17030669 2006 POMGnT1 mutations in congenital muscular dystrophy: genotype-phenotype correlation and expanded clinical spectrum.
PMID 12588800 2003 Worldwide distribution and broader clinical spectrum of muscle-eye-brain disease.
rs1048865247 in
TSPAN1;POMGNT1 gene and
Muscle eye brain disease
PMID 22323514 2012 Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies.
PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.
PMID 11709191 2001 Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1.
PMID 12788071 2003 Loss-of-function of an N-acetylglucosaminyltransferase, POMGnT1, in muscle-eye-brain disease.
PMID 12849864 2003 Enzymatic diagnostic test for Muscle-Eye-Brain type congenital muscular dystrophy using commercially available reagents.
PMID 21361872 2011 Biochemical correlation of activity of the α-dystroglycan-modifying glycosyltransferase POMGnT1 with mutations in muscle-eye-brain disease.
PMID 15236414 2004 POMGnT1 gene alterations in a family with neurological abnormalities.
PMID 20215985 2010 Muscle-Eye-Brain disease.
PMID 16427280 2006 Carriers and patients with muscle-eye-brain disease can be rapidly diagnosed by enzymatic analysis of fibroblasts and lymphoblasts.
PMID 22522420 2012 ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome.
PMID 17559086 2007 Molecular heterogeneity in fetal forms of type II lissencephaly.
PMID 27493216 2016 Carbohydrate-binding domain of the POMGnT1 stem region modulates O-mannosylation sites of α-dystroglycan.
PMID 17030669 2006 POMGnT1 mutations in congenital muscular dystrophy: genotype-phenotype correlation and expanded clinical spectrum.
PMID 19299310 2009 Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study.
PMID 15466003 2004 POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain disease.
PMID 19067344 2008 Brain involvement in muscular dystrophies with defective dystroglycan glycosylation.
PMID 17906881 2007 Novel POMGnT1 mutations define broader phenotypic spectrum of muscle-eye-brain disease.
PMID 24731844 2014 Clinical, radiological, and genetic survey of patients with muscle-eye-brain disease caused by mutations in POMGNT1.
PMID 17154333 2007 Both linkage analysis of the POMGNT1/1p32-p34 region and direct sequencing for the novel familial mutation (R605H) demonstrated that the fetus did not have MEB.
PMID 23689641 2013 Novel POMGnT1 mutations cause muscle-eye-brain disease in Chinese patients.
PMID 19679478 2009 An unusual presentation of muscle-eye-brain disease: severe eye abnormalities with mild muscle and brain involvement.
PMID 25390965 2012 Novel retinal findings in an infant with muscle-eye-brain disease.
PMID 17878207 2007 Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan.
PMID 12588800 2003 Worldwide distribution and broader clinical spectrum of muscle-eye-brain disease.