Research paper
An ovine hepatorenal fibrocystic model of a Meckel-like syndrome associated with dysmorphic primary cilia and TMEM67 mutations.
About this item
- 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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Report this itemDigitalNZ brings together more than 30 million items from institutions so that they are easy to find and use. This information is the best information we could find on this item. This item was added on 31 March 2019, and updated 18 August 2023.
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