Research paper

An ovine hepatorenal fibrocystic model of a Meckel-like syndrome associated with dysmorphic primary cilia and TMEM67 mutations.

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Title
An ovine hepatorenal fibrocystic model of a Meckel-like syndrome associated with dysmorphic primary cilia and TMEM67 mutations.
Content partner
The University of Auckland Library
Collection
ResearchSpace@Auckland
Description

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 TMEM67 were pathogenic in zebrafish phenotype rescue assays. Meckelin protein was ...

Format
Research paper
Research format
Journal article
Date created
2017-05-09
Creator
Stayner, C / Poole, CA / McGlashan, Susan / Pilanthananond, M / Brauning, R / Markie, D / Lett, B / Slobbe, L / Chae, A / Johnstone, AC / Jensen, Cynthia / McEwan, JC / Dittmer, K / Parker, K / Wiles, A / Blackburne, W / Leichter, A / Leask, M / Pinnapureddy, A / Jennings, M / Horsfield, JA / Walker, RJ / Eccles, Michael
URL
http://hdl.handle.net/2292/41839
Related subjects
Kidney / Cilia / Chromosomes, Mammalian / Golgi Apparatus / Epithelial Cells / Animals / Zebrafish / Sheep / Pancreatic Cyst / Hepatorenal Syndrome / Dandy-Walker Syndrome / Abnormalities, Multiple / Disease Models, Animal / Membrane Proteins / RNA, Messenger / Amino Acid Substitution / Base Sequence / Homozygote / Mutation / Mutation, Missense / Genetic Loci

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