Focal dermal hypoplasia resulting from a new nonsense mutation, p.E300X, in the PORCN gene
- 31 January 2008
- journal article
- case report
- Published by Elsevier BV in Journal of Dermatological Science
- Vol. 49 (1), 39-42
- https://doi.org/10.1016/j.jdermsci.2007.09.004
Abstract
No abstract availableKeywords
This publication has 10 references indexed in Scilit:
- Wnt signaling in focal dermal hypoplasiaNature Genetics, 2007
- Mutations in X-linked PORCN, a putative regulator of Wnt signaling, cause focal dermal hypoplasiaNature Genetics, 2007
- Deficiency of PORCN, a regulator of Wnt signaling, is associated with focal dermal hypoplasiaNature Genetics, 2007
- Signaling and transcriptional regulation in osteoblast commitment and differentiationFrontiers in Bioscience-Landmark, 2007
- β-Catenin stabilization dysregulates mesenchymal cell proliferation, motility, and invasiveness and causes aggressive fibromatosis and hyperplastic cutaneous woundsProceedings of the National Academy of Sciences of the United States of America, 2002
- Molecular cloning and initial characterization of the MG61/PORC gene, the human homologue of the Drosophila segment polarity gene PorcupineGene, 2002
- The evolutionarily conserved porcupine gene family is involved in the processing of the Wnt familyJBIC Journal of Biological Inorganic Chemistry, 2000
- The evolutionarily conserved porcupine gene family is involved in the processing of the Wnt familyJBIC Journal of Biological Inorganic Chemistry, 2000
- A superfamily of membrane-bound O -acyltransferases with implications for Wnt signalingTrends in Biochemical Sciences, 2000
- Focal Dermal HypoplasiaArchives of Dermatology, 1962