Article

Mutations in POFUT1, Encoding Protein O-fucosyltransferase 1, Cause Generalized Dowling-Degos Disease

2013-06-06

Abstract excerpt

No abstract is available from the source.

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: f585f71d-b2fe-5682-b9f9-508bb7586e6d
DOI: 10.1016/j.ajhg.2013.05.016
PMCID: PMC3675236

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Mutations in POFUT1, Encoding Protein O-fucosyltransferase 1, Cause Generalized Dowling-Degos DiseaseDOI 10.1016/j.ajhg.2013.05.016Read

Atypical presentation of Dowling-Degos disease with novel and recurrent mutations in POFUT1.Semantic proximity Read

Mutations in POGLUT1, encoding protein O-glucosyltransferase 1, cause autosomal-dominant Dowling-Degos disease.Semantic proximity Read

A novel mutation in POFUT1 gene associated with Dowling-Degos disease and hidradenitis suppurativa.Semantic proximity Read

Mutations in POFUT1, encoding protein O-fucosyltransferase 1, cause generalized Dowling-Degos disease.Semantic proximity Read

Variant in human POFUT1 reduces enzymatic activity and likely causes a recessive microcephaly, global developmental delay with cardiac and vascular features.Semantic proximity Read

Analysis of POFUT1 gene mutation in a Chinese family with Dowling-Degos disease.Semantic proximity Read

Novel POFUT1 mutation associated with hidradenitis suppurativa–Dowling–Degos disease firm up a role for Notch signalling in the pathogenesis of this disorderSemantic proximity Read

Structure of human POFUT1, its requirement in ligand-independent oncogenic Notch signaling, and functional effects of Dowling-Degos mutations.Semantic proximity Read

Genetic Diseases of Fucosylation: Insights from Model OrganismsSemantic proximity Read

A case report of Dowling-Degos disease caused by POFUT1 exon deletion with possible coexistent CARD14 mutation-related psoriasis.Semantic proximity Read

Genotype first approach & familial segregation analysis help in the elucidation of disease-causing variant for fucosidosis.Semantic proximity Read

Congenital disorders of glycosylation with defective fucosylationSemantic proximity Read