UB Paderborn / Katalog / Details

Autor(en) / Beteiligte

Titel

Deficiency of PORCN , a regulator of Wnt signaling, is associated with focal dermal hypoplasia

Ist Teil von

Ort / Verlag

London: Nature Publishing Group

Erscheinungsjahr

2007

Link zum Volltext

Quelle

Alma/SFX Local Collection

Beschreibungen/Notizen

Focal dermal hypoplasia (FDH) is an X-linked dominant multisystem birth defect affecting tissues of ectodermal and mesodermal origin. Using a stepwise approach of (i) genetic mapping of FDH, (ii) high-resolution comparative genome hybridization to seek deletions in candidate chromosome areas and (iii) point mutation analysis in candidate genes, we identified PORCN, encoding a putative O-acyltransferase and potentially crucial for cellular export of Wnt signaling proteins, as the gene mutated in FDH. The findings implicate FDH as a developmental disorder caused by a deficiency in PORCN.

Sprache: Englisch
Identifikatoren: ISSN: 1061-4036
eISSN: 1546-1718
DOI: 10.1038/ng2052
Titel-ID: cdi_proquest_miscellaneous_70670324

Format: –
Schlagworte: Acyltransferases, Adolescent, Adult, Biological and medical sciences, Birth defects, Cell physiology, Child, Complications and side effects, Developmental disabilities, Diagnosis, Diseases of the osteoarticular system, Female, Focal Dermal Hypoplasia - enzymology, Focal Dermal Hypoplasia - genetics, Focal Dermal Hypoplasia - metabolism, Fundamental and applied biological sciences. Psychology, Gene mutations, Genetic aspects, Genetics of eukaryotes. Biological and molecular evolution, Genomics, Humans, Identification and classification, Male, Malformations and congenital and or hereditary diseases involving bones. Joint deformations, Medical sciences, Membrane Proteins - deficiency, Membrane Proteins - genetics, Middle Aged, Molecular and cellular biology, Mutation, Pedigree, Physiological aspects, Proteins, Risk factors, Signal transduction, Signal Transduction - genetics, Skin diseases, Transferases, Wnt Proteins - metabolism, Wnt Proteins - physiology

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