Critical involvement of ZEB2 in collagen fibrillogenesis: the molecular similarity between Mowat-Wilson syndrome and Ehlers-Danlos syndrome

Mowat-Wilson syndrome (MOWS) is a congenital disease caused by de novo heterozygous loss of function mutations or deletions of the ZEB2 gene. MOWS patients show multiple anomalies including intellectual disability, a distinctive facial appearance, microcephaly, congenital heart defects and Hirschspr...

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Veröffentlicht in:	Scientific reports 2017-04, Vol.7 (1), p.46565-46565, Article 46565
Hauptverfasser:	Teraishi, Mika, Takaishi, Mikiro, Nakajima, Kimiko, Ikeda, Mitsunori, Higashi, Yujiro, Shimoda, Shinji, Asada, Yoshinobu, Hijikata, Atsushi, Ohara, Osamu, Hiraki, Yoko, Mizuno, Seiji, Fukada, Toshiyuki, Furukawa, Takahisa, Wakamatsu, Nobuaki, Sano, Shigetoshi
Format:	Artikel
Sprache:	eng
Schlagworte:	38/39 38/77 692/1807/1812 692/308/1426 Animals Bleomycin Child Child, Preschool Collagen Collagen - genetics Collagen - metabolism Congenital diseases Coronary artery disease Dermis - metabolism Dermis - pathology Ehlers-Danlos syndrome Ehlers-Danlos Syndrome - genetics Ehlers-Danlos Syndrome - metabolism Ehlers-Danlos Syndrome - pathology Electron microscopy Extracellular matrix Extracellular Matrix - genetics Extracellular Matrix - metabolism Facies Female Fibrillogenesis Fibroblasts Fibroblasts - metabolism Fibroblasts - pathology Fibrosis Gene deletion Heart diseases Hirschsprung Disease - genetics Hirschsprung Disease - metabolism Hirschsprung Disease - pathology Hirschsprung's disease Humanities and Social Sciences Humans Hypoplasia Intellectual disabilities Intellectual Disability - genetics Intellectual Disability - metabolism Intellectual Disability - pathology Male Mesoderm Mice Mice, Knockout Microcephaly - genetics Microcephaly - metabolism Microcephaly - pathology Microencephaly multidisciplinary Mutation Proteolysis Science Skin Skin diseases Zinc Finger E-box Binding Homeobox 2 - genetics Zinc Finger E-box Binding Homeobox 2 - metabolism
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