Article
An ovine hepatorenal fibrocystic model of a Meckel-like syndrome associated with dysmorphic primary cilia and TMEM67 mutations.
Scientific reports - 9 May 2017
Stayner C, Poole C A, McGlashan S R, Pilanthananond M, Brauning R, Markie D, Lett B, Slobbe L, Chae A, Johnstone A C, Jensen C G, McEwan J C, Dittmer K, Parker K, Wiles A, Blackburne W, Leichter A, Leask M, Pinnapureddy A, Jennings M, Horsfield J A, Walker R J, Eccles M R
Abstract excerpt
Meckel syndrome (MKS) is an inherited autosomal recessive hepatorenal fibrocystic syndrome, caused by mutations in TMEM67, characterized by occipital encephalocoele, renal cysts, hepatic fibrosis, and polydactyly. Here we describe an ovine model of MKS, with kidney and liver abnormalities, without polydactyly or occipital encephalocoele. Homozygous missense p.(Ile681Asn; Ile687Ser) mutations identified in ovine...
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