A Faroese founder variant in TBCD causes early onset, progressive encephalopathy with a homogenous clinical course
Sign Up to like & getrecommendations! Published in 2018 at "European Journal of Human Genetics"
DOI: 10.1038/s41431-018-0204-5
Abstract: An intact and dynamic microtubule cytoskeleton is crucial for the development, differentiation, and maintenance of the mammalian cortex. Variants in a host of structural microtubulin-associated proteins have been identified to cause a wide spectrum of… read more here.
Keywords: early onset; progressive encephalopathy; variant; encephalopathy ... See more keywords
Gfi1Cre mice have early onset progressive hearing loss and induce recombination in numerous inner ear non-hair cells
Sign Up to like & getrecommendations! Published in 2017 at "Scientific Reports"
DOI: 10.1038/srep42079
Abstract: Studies of developmental and functional biology largely rely on conditional expression of genes in a cell type-specific manner. Therefore, the importance of specificity and lack of inherent phenotypes for Cre-driver animals cannot be overemphasized. The… read more here.
Keywords: early onset; inner ear; hair cells; hair ... See more keywords