Disease on EC 2.4.1.312 - protein O-mannose beta-1,4-N-acetylglucosaminyltransferase
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Cobblestone Lissencephaly
Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies.
Coloboma
A 649 kb microduplication in 1p34.1, including POMGNT1, in a patient with microcephaly, coloboma and laryngomalacia; and a review of the literature.
Coloboma
A 649 kb microduplication in 1p34.1, including POMGNT1, in a patient with microcephaly, coloboma and laryngomalacia; and a review of the literature.
Diabetes Mellitus, Type 2
Generalization of Rare Variant Association Tests for Longitudinal Family Studies.
Eye Abnormalities
Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan.
Eye Abnormalities
Post-translational maturation of dystroglycan is necessary for pikachurin binding and ribbon synaptic localization.
Glioblastoma
PomGnT1 enhances temozolomide resistance by activating epithelial-mesenchymal transition signaling in glioblastoma.
Glioma
O-linked mannose ?-1,2-N-acetylglucosaminyltransferase 1 correlated with the malignancy in glioma.
Hydrocephalus
Worldwide distribution and broader clinical spectrum of muscle-eye-brain disease.
Infections
Crystal structures of ?-1,4-N-acetylglucosaminyltransferase 2: structural basis for inherited muscular dystrophies.
Intellectual Disability
LGMD phenotype due to a new gene and dysferlinopathy investigated by next-generation sequencing.
Intellectual Disability
Mild POMGnT1 mutations underlie a novel limb-girdle muscular dystrophy variant.
Intellectual Disability
Milder forms of muscular dystrophy associated with POMGNT2 mutations.
Laryngomalacia
A 649 kb microduplication in 1p34.1, including POMGNT1, in a patient with microcephaly, coloboma and laryngomalacia; and a review of the literature.
Laryngomalacia
A 649 kb microduplication in 1p34.1, including POMGNT1, in a patient with microcephaly, coloboma and laryngomalacia; and a review of the literature.
Malformations of Cortical Development, Group II
Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1.
Microcephaly
A 649 kb microduplication in 1p34.1, including POMGNT1, in a patient with microcephaly, coloboma and laryngomalacia; and a review of the literature.
Microcephaly
A 649 kb microduplication in 1p34.1, including POMGNT1, in a patient with microcephaly, coloboma and laryngomalacia; and a review of the literature.
Muscular Dystrophies
160 kb deletion in ISPD unmasking a recessive mutation in a patient with Walker-Warburg syndrome.
Muscular Dystrophies
A rapid PCR method for genotyping the Large(myd) mouse, a model of glycosylation-deficient congenital muscular dystrophy.
Muscular Dystrophies
A Successful Treatment of Endoscopic Third Ventriculostomy with Choroid Plexus Cauterization for Hydrocephalus in Walker-Warburg Syndrome.
Muscular Dystrophies
Adeno-Associated Viral-Mediated LARGE Gene Therapy Rescues the Muscular Dystrophic Phenotype in Mouse Models of Dystroglycanopathy.
Muscular Dystrophies
Brain involvement in muscular dystrophies with defective dystroglycan glycosylation.
Muscular Dystrophies
Carbohydrate-binding domain of the POMGnT1 stem region modulates O-mannosylation sites of ?-dystroglycan.
Muscular Dystrophies
Characterization of the LARGE family of putative glycosyltransferases associated with dystroglycanopathies.
Muscular Dystrophies
Congenital Muscular Dystrophy due to Novel Compound Heterozygote Mutations in POMGNT1 Gene.
Muscular Dystrophies
Crystal structures of ?-1,4-N-acetylglucosaminyltransferase 2: structural basis for inherited muscular dystrophies.
Muscular Dystrophies
Heterozygous deletion of a 2-Mb region including the dystroglycan gene in a patient with mild myopathy, facial hypotonia, oral-motor dyspraxia and white matter abnormalities.
Muscular Dystrophies
Homozygosity Mapping and Whole-Genome Sequencing Links a Missense Mutation in POMGNT1 to Autosomal Recessive Retinitis Pigmentosa.
Muscular Dystrophies
LGMD phenotype due to a new gene and dysferlinopathy investigated by next-generation sequencing.
Muscular Dystrophies
Mild POMGnT1 mutations underlie a novel limb-girdle muscular dystrophy variant.
Muscular Dystrophies
Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1.
Muscular Dystrophies
Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan.
Muscular Dystrophies
Novel synonymous substitution in POMGNT1 promotes exon skipping in a patient with congenital muscular dystrophy.
Muscular Dystrophies
POMGnT1 mutations in congenital muscular dystrophy: genotype-phenotype correlation and expanded clinical spectrum.
Muscular Dystrophies
POMGnT1, POMT1, and POMT2 mutations in congenital muscular dystrophies.
Muscular Dystrophies
Post-translational maturation of dystroglycan is necessary for pikachurin binding and ribbon synaptic localization.
Muscular Dystrophies
SGK196 is a glycosylation-specific O-mannose kinase required for dystroglycan function.
Muscular Dystrophies
Structure-function analysis of human protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase 1, POMGnT1.
Muscular Dystrophies
Worldwide distribution and broader clinical spectrum of muscle-eye-brain disease.
Muscular Dystrophies, Limb-Girdle
Crystal structures of ?-1,4-N-acetylglucosaminyltransferase 2: structural basis for inherited muscular dystrophies.
Muscular Dystrophies, Limb-Girdle
Journey into muscular dystrophies caused by abnormal glycosylation.
Muscular Dystrophies, Limb-Girdle
LGMD phenotype due to a new gene and dysferlinopathy investigated by next-generation sequencing.
Muscular Dystrophies, Limb-Girdle
Mild POMGnT1 mutations underlie a novel limb-girdle muscular dystrophy variant.
Muscular Dystrophies, Limb-Girdle
Milder forms of muscular dystrophy associated with POMGNT2 mutations.
Muscular Dystrophies, Limb-Girdle
Promoter alteration causes transcriptional repression of the POMGNT1 gene in limb-girdle muscular dystrophy type 2O.
Nervous System Diseases
Identification of a novel missense c.386G?>?A variant in a boy with the POMGNT1-related muscular dystrophy-dystroglycanopathy.
Neuroblastoma
Integrin-dependent neuroblastoma cell adhesion and migration on laminin is regulated by expression levels of two enzymes in the O-mannosyl-linked glycosylation pathway, PomGnT1 and GnT-Vb.
Neuromuscular Diseases
Heterozygous deletion of a 2-Mb region including the dystroglycan gene in a patient with mild myopathy, facial hypotonia, oral-motor dyspraxia and white matter abnormalities.
protein o-mannose beta-1,4-n-acetylglucosaminyltransferase deficiency
Glycosyltransferase POMGNT1 deficiency strengthens N-cadherin-mediated cell-cell adhesion.
Retinal Diseases
Homozygosity Mapping and Whole-Genome Sequencing Links a Missense Mutation in POMGNT1 to Autosomal Recessive Retinitis Pigmentosa.
Retinitis Pigmentosa
Homozygosity Mapping and Whole-Genome Sequencing Links a Missense Mutation in POMGNT1 to Autosomal Recessive Retinitis Pigmentosa.
Walker-Warburg Syndrome
Biochemical correlation of activity of the alpha-dystroglycan-modifying glycosyltransferase POMGnT1 with mutations in Muscle-Eye-Brain disease.
Walker-Warburg Syndrome
Carbohydrate-binding domain of the POMGnT1 stem region modulates O-mannosylation sites of ?-dystroglycan.
Walker-Warburg Syndrome
Clinical and electrophysiological evaluation of myasthenic features in an alpha-dystroglycanopathy cohort (FKRP-predominant).
Walker-Warburg Syndrome
Clinical features and molecular characterization of a patient with muscle-eye-brain disease: a novel mutation in the POMGNT1 gene.
Walker-Warburg Syndrome
Clinical, radiological, and genetic survey of patients with muscle-eye-brain disease caused by mutations in POMGNT1.
Walker-Warburg Syndrome
Crystal structures of ?-1,4-N-acetylglucosaminyltransferase 2: structural basis for inherited muscular dystrophies.
Walker-Warburg Syndrome
Dystroglycanopathy with two novel POMT1 mutations in a Chinese boy with developmental delay and muscular dystrophy.
Walker-Warburg Syndrome
Effects of length and amino acid sequence of O-mannosyl peptides on substrate specificity of protein O-linked mannose ?1,2-N-acetylglucosaminyltransferase 1 (POMGnT1).
Walker-Warburg Syndrome
Exome Sequencing and Functional Validation in Zebrafish Identify GTDC2 Mutations as a Cause of Walker-Warburg Syndrome.
Walker-Warburg Syndrome
Expression pattern in retinal photoreceptors of POMGnT1, a protein involved in muscle-eye-brain disease.
Walker-Warburg Syndrome
Gallus gallus orthologous to human alpha-dystroglycanopathies candidate genes: Gene expression and characterization during chicken embryogenesis.
Walker-Warburg Syndrome
GTDC2 modifies O-mannosylated ?-dystroglycan in the endoplasmic reticulum to generate N-acetyl glucosamine epitopes reactive with CTD110.6 antibody.
Walker-Warburg Syndrome
Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly.
Walker-Warburg Syndrome
Journey into muscular dystrophies caused by abnormal glycosylation.
Walker-Warburg Syndrome
Loss-of-function of an N-acetylglucosaminyltransferase, POMGnT1, in muscle-eye-brain disease.
Walker-Warburg Syndrome
Mild POMGnT1 mutations underlie a novel limb-girdle muscular dystrophy variant.
Walker-Warburg Syndrome
Milder forms of muscular dystrophy associated with POMGNT2 mutations.
Walker-Warburg Syndrome
Muscular dystrophies due to defective glycosylation of dystroglycan.
Walker-Warburg Syndrome
Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan.
Walker-Warburg Syndrome
Novel copy number variation of POMGNT1 associated with muscle-eye-brain disease detected by next-generation sequencing.
Walker-Warburg Syndrome
Novel POMGnT1 mutations cause muscle-eye-brain disease in Chinese patients.
Walker-Warburg Syndrome
Novel POMGnT1 mutations define broader phenotypic spectrum of muscle-eye-brain disease.
Walker-Warburg Syndrome
Novel POMGNT1 point mutations and intragenic rearrangements associated with muscle-eye-brain disease.
Walker-Warburg Syndrome
POMGnT1 gene alterations in a family with neurological abnormalities.
Walker-Warburg Syndrome
POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain disease.
Walker-Warburg Syndrome
POMGnT1 mutations in congenital muscular dystrophy: genotype-phenotype correlation and expanded clinical spectrum.
Walker-Warburg Syndrome
POMGnT1, POMT1, and POMT2 mutations in congenital muscular dystrophies.
Walker-Warburg Syndrome
RPTP?/phosphacan is abnormally glycosylated in a model of muscle-eye-brain disease lacking functional POMGnT1.
Walker-Warburg Syndrome
Severe muscle-eye-brain disease is associated with a homozygous mutation in the POMGnT1 gene.
Walker-Warburg Syndrome
Structure-function analysis of human protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase 1, POMGnT1.
Walker-Warburg Syndrome
[Finding of O-mannosyl glycan in mammals and congenital muscular dystrophies due to glycosylation defects]
Walker-Warburg Syndrome
[Immunohistochemical studies of a variant of congenital muscular dystrophy]
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