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POMT1 gene

Known as: ROTATED ABDOMEN, DROSOPHILA, HOMOLOG OF, dolichyl-phosphate-mannose-protein mannosyltransferase, PROTEIN O-MANNOSYLTRANSFERASE 1 
National Institutes of Health

Related topics

Related topics

2 relations
Dolichyl-phosphate-mannose-protein mannosyltransferasePOMT2 gene

Papers overview

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2019
2019
Just Expect It: Compound Heterozygous Variants of POMT1 in a Consanguineous Family—The Role of Next Generation Sequencing in Neuromuscular Disorders
Abstract Muscular dystrophy-dystroglycanopathies (MDDG) are a group of genetically heterogeneous autosomal recessive disorders… 
2017
2017
Compound heterozygous POMT1 mutations in a Chinese family with autosomal recessive muscular dystrophy‐dystroglycanopathy C1
Muscular dystrophy‐dystroglycanopathy (MDDG) is a genetically and clinically heterogeneous group of muscular disorders… 
2016
2016
Functional Similarities between the Protein O-Mannosyltransferases Pmt4 from Bakers' Yeast and Human POMT1*
Protein O-mannosylation is an essential post-translational modification. It is initiated in the endoplasmic reticulum by a family… 
2015
2015
Whole‐exome sequencing diagnosis of two autosomal recessive disorders in one family
Autosomal recessive congenital ichthyosis (ARCI) is a genetically heterogeneous disorder for which subtyping through molecular… 
2014
2014
Dystroglycanopathy with two novel POMT1 mutations in a Chinese boy with developmental delay and muscular dystrophy.
2014
2014
Broad Phenotypic Spectrum of A-Dystroglycanopathies due to POMT1 Mutations in 16 Families
Introduction: Congenital muscular dystrophies with defective O-glycosylation of α-dystroglycan (α-dystroglycanopathies) are a… 
2010
2010
POMGnT1, POMT1, and POMT2 mutations in congenital muscular dystrophies.
2006
2006
Molecular cloning and characterization of rat Pomt1 and Pomt2.
Mammalian O-mannosylation, although an uncommon type of protein modification, is essential for normal brain and muscle… 
2006
2006
Expanding the clinical spectrum of POMT1 phenotype
Mutations in POMT1 have been identified in Walker- Warburg syndrome and in patients with limb- girdle muscular dystrophy and… 
Highly Cited
1999
Highly Cited
1999
Identification of a human homolog of the Drosophila rotated abdomen gene (POMT1) encoding a putative protein O-mannosyl-transferase, and assignment to human chromosome 9q34.1.
We have isolated a human gene homologous to Drosophila melanogaster rotated abdomen, rt, a poorly viable recessive mutation… 
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