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Deletion of Porcn in mice leads to multiple developmental defects and models human focal dermal hypoplasia (Goltz syndrome).

PloS one | 2012

Focal Dermal Hypoplasia (FDH) is a genetic disorder characterized by developmental defects in skin, skeleton and ectodermal appendages. FDH is caused by dominant loss-of-function mutations in X-linked PORCN. PORCN orthologues in Drosophila and mice encode endoplasmic reticulum proteins required for secretion and function of Wnt proteins. Wnt proteins play important roles in embryo development, tissue homeostasis and stem cell maintenance. Since features of FDH overlap with those seen in mouse Wnt pathway mutants, FDH likely results from defective Wnt signaling but molecular mechanisms by which inactivation of PORCN affects Wnt signaling and manifestations of FDH remain to be elucidated.

Pubmed ID: 22412863 RIS Download

Associated grants

  • Agency: NICHD NIH HHS, United States
    Id: P30 HD024064
  • Agency: NIAMS NIH HHS, United States
    Id: R01 AR059122
  • Agency: NICHD NIH HHS, United States
    Id: P30HD024064
  • Agency: NIAMS NIH HHS, United States
    Id: R01-AR059122

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