An Ift80 mouse model of short rib polydactyly syndromes shows defects in hedgehog signalling without loss or malformation of cilia

IFT80, a protein component of intraflagellar transport (IFT) complex B, is required for the formation, maintenance and functionality of cilia. Mutations in IFT80 cause Jeune asphyxiating thoracic dystrophy (JATD) and short rib polydactyly (SRP) type III. Both diseases are autosomal recessive chondro...

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Veröffentlicht in:	Human molecular genetics 2011-04, Vol.20 (7), p.1306-1314
Hauptverfasser:	RIX, Suzanne, CALMONT, Amelie, SCAMBLER, Peter J, BEALES, Philip L
Format:	Artikel
Sprache:	eng
Schlagworte:	Animals Biological and medical sciences Carrier Proteins - genetics Carrier Proteins - metabolism Cell physiology Cells, Cultured Cilia Disease Models, Animal Fibroblasts - metabolism Fibroblasts - pathology Fundamental and applied biological sciences. Psychology Genetics of eukaryotes. Biological and molecular evolution Hedgehog Proteins - genetics Hedgehog Proteins - metabolism Humans Mice Mice, Mutant Strains Molecular and cellular biology Short Rib-Polydactyly Syndrome - genetics Short Rib-Polydactyly Syndrome - metabolism Short Rib-Polydactyly Syndrome - pathology Signal Transduction Transcription, Genetic
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