title: Healing a natural knockout of epithelial organogenesis.
abstract: Ectodermal dysplasias are a large group of rare genetic disorders with developmental abnormalities in skin, teeth, hair and nails. Many of them are clinically serious and impair the life of patients. The cloning of the gene for the most common of them, X-linked anhidrotic ectodermal dysplasia, in 1996 opened the door to dissect novel developmental pathways at the molecular level. Since then, several new genes and proteins with novel functions have been identified.
authors.affiliation: Dept of Biosciences at Novum and Clinical Research Centre, Karolinska Institute, 14157 Huddinge, Sweden. juha.kere@biosci.ki.se
authors.forename: Juha
authors.initials: J
authors.lastname: Kere
authors.forename: Outi
authors.initials: O
authors.lastname: Elomaa
mesh_terms: D000818:Animals; D053331:Ectodysplasins; D004847:Epithelial Cells / Q000378:metabolism*; D018507:Gene Expression Regulation, Developmental; D006801:Humans; D008565:Membrane Proteins / Q000378:metabolism; D051379:Mice; D018345:Mice, Knockout; D008954:Models, Biological; D009154:Mutation; D015398:Signal Transduction; D012867:Skin / Q000196:embryology* / Q000378:metabolism*; D012879:Skin Physiological Phenomena
chemical_list: C506018:EDA protein, human; D053331:Ectodysplasins; C506019:Eda protein, mouse; D008565:Membrane Proteins