Mouse genetics reveals Barttin as a genetic modifier of Joubert syndrome [Genetics]

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...

http://www.pnas.org/content/117/2/1113.short?rss=1

Source: Proceedings of the National Academy of Sciences - January 13, 2020 Category: Science Authors: Simon A. Ramsbottom, Peter E. Thelwall, Katrina M. Wood, Gavin J. Clowry, Laura A. Devlin, Flora Silbermann, Helena L. Spiewak, Shirlee Shril, Elisa Molinari, Friedhelm Hildebrandt, Meral Gunay-Aygun, Sophie Saunier, Heather J. Cordell, John A. Sayer, Col Tags: Biological Sciences Source Type: research