Article
Mouse genetics reveals Barttin as a genetic modifier of Joubert syndrome.
Proceedings of the National Academy of Sciences of the United States of America - 14 Jan 2020
Ramsbottom Simon A, Thelwall Peter E, Wood Katrina M, Clowry Gavin J, Devlin Laura A, Silbermann Flora, Spiewak Helena L, Shril Shirlee, Molinari Elisa, Hildebrandt Friedhelm, Gunay-Aygun Meral, Saunier Sophie, Cordell Heather J, Sayer John A, Miles Colin G
Abstract excerpt
Genetic and phenotypic heterogeneity and the lack of sufficiently large patient cohorts pose a significant challenge to understanding genetic associations in rare disease. Here we identify Bsnd (alias Barttin) as a genetic modifier of cystic kidney disease in Joubert syndrome, using a Cep290-deficient mouse model to recapitulate the phenotypic variability observed in patients by mixing genetic backgrounds in a...
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