An ovine hepatorenal fibrocystic model of a Meckel-like syndrome associated with dysmorphic primary cilia and TMEM67 mutations.
Stayner, C
An ovine hepatorenal fibrocystic model of a Meckel-like syndrome associated with dysmorphic primary cilia and TMEM67 mutations. [electronic resource] - Scientific reports 05 2017 - 1601 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
2045-2322
10.1038/s41598-017-01519-4 doi
Abnormalities, Multiple--genetics
Amino Acid Substitution
Animals
Base Sequence
Chromosomes, Mammalian--genetics
Cilia--pathology
Dandy-Walker Syndrome--genetics
Disease Models, Animal
Epithelial Cells--metabolism
Genetic Loci
Golgi Apparatus--metabolism
Hepatorenal Syndrome--genetics
Homozygote
Kidney--pathology
Membrane Proteins--chemistry
Mutation--genetics
Mutation, Missense--genetics
Pancreatic Cyst--genetics
RNA, Messenger--genetics
Sheep
Zebrafish
An ovine hepatorenal fibrocystic model of a Meckel-like syndrome associated with dysmorphic primary cilia and TMEM67 mutations. [electronic resource] - Scientific reports 05 2017 - 1601 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
2045-2322
10.1038/s41598-017-01519-4 doi
Abnormalities, Multiple--genetics
Amino Acid Substitution
Animals
Base Sequence
Chromosomes, Mammalian--genetics
Cilia--pathology
Dandy-Walker Syndrome--genetics
Disease Models, Animal
Epithelial Cells--metabolism
Genetic Loci
Golgi Apparatus--metabolism
Hepatorenal Syndrome--genetics
Homozygote
Kidney--pathology
Membrane Proteins--chemistry
Mutation--genetics
Mutation, Missense--genetics
Pancreatic Cyst--genetics
RNA, Messenger--genetics
Sheep
Zebrafish