title: TGF-beta signaling and aplasia cutis congenita: proposed animal model.
abstract: TGF-beta plays a role in cell migration, proliferation, and differentiation during embryonic development. This study investigated the effect of neural crest- or mesodermspecific loss of TGF-beta type II receptor in mice. These conditional knockout mice both exhibit skin defects of the skull associated with an underlying bone defect, a phenotype consistent with the human disorder aplasia cutis congenita. The authors suggest that TGF-3 type II receptor gene is a candidate gene for aplasia cutis congenita.
authors.affiliation: University of Southern California, School of Dentistry, USA. zehnaly@usc.edu
authors.forename: Armen
authors.initials: A
authors.lastname: Zehnaly
authors.forename: Ryoichi
authors.initials: R
authors.lastname: Hosokawa
authors.forename: Mark
authors.initials: M
authors.lastname: Urata
authors.forename: Yang
authors.initials: Y
authors.lastname: Chai
mesh_terms: D051698:Activating Transcription Factor 2 / Q000235:genetics; D000818:Animals; D019070:Cell Lineage / Q000235:genetics; D004195:Disease Models, Animal; D004476:Ectodermal Dysplasia / Q000209:etiology* / Q000235:genetics; D006801:Humans; D008648:Mesoderm / Q000473:pathology; D051379:Mice; D018345:Mice, Knockout; D008822:Mice, Transgenic; D051787:Myogenic Regulatory Factor 5 / Q000235:genetics; D009432:Neural Crest / Q000473:pathology; D010641:Phenotype; D017346:Protein Serine-Threonine Kinases / Q000235:genetics / Q000502:physiology*; D011506:Proteins / Q000235:genetics; D022661:RNA, Untranslated; D000077294:Receptor, Transforming Growth Factor-beta Type II; D018125:Receptors, Transforming Growth Factor beta / Q000235:genetics / Q000502:physiology*; D015398:Signal Transduction / Q000235:genetics / Q000502:physiology*; D012886:Skull / Q000002:abnormalities; D016212:Transforming Growth Factor beta / Q000235:genetics / Q000502:physiology*; D051155:Wnt1 Protein / Q000235:genetics
chemical_list: D051698:Activating Transcription Factor 2; C110853:Gt(ROSA)26Sor non-coding RNA, mouse; C497418:Myf5 protein, mouse; D051787:Myogenic Regulatory Factor 5; D011506:Proteins; D022661:RNA, Untranslated; D018125:Receptors, Transforming Growth Factor beta; D016212:Transforming Growth Factor beta; D051155:Wnt1 Protein; D017346:Protein Serine-Threonine Kinases; D000077294:Receptor, Transforming Growth Factor-beta Type II