Sébastien Chardenoux

OTOF Encodes Multiple Long and Short Isoforms: Genetic Evidence That the Long Ones Underlie Recessive Deafness DFNB9

Shin’ichiro Yasunaga, M’hamed Grati, Sébastien Chardenoux et al. · The American Journal of Human Genetics · 2000 · 203 citations · Full text

Developmental Biology, Short Isoforms, Genetic Disorder +11

Usherin, the defective protein in Usher syndrome type IIA, is likely to be a component of interstereocilia ankle links in the inner ear sensory cells

Avital Adato, G. Lefèvre, Benjamin Delprat et al. · Human Molecular Genetics · 2005 · 186 citations · Full text

Isolated Deafness, Protein Secretion, Genetics +18

Usher type 1G protein sans is a critical component of the tip-link complex, a structure controlling actin polymerization in stereocilia

Elisa Caberlotto, Vincent Michel, Isabelle Foucher et al. · Proceedings of the National Academy of Sciences · 2011 · 153 citations · Full text

Mutations in CDC14A , Encoding a Protein Phosphatase Involved in Hair Cell Ciliogenesis, Cause Autosomal-Recessive Severe to Profound Deafness

Sedigheh Delmaghani, Asadollah Aghaie, Yosra Bouyacoub et al. · The American Journal of Human Genetics · 2016 · 46 citations · Full text

Signal Transduction, Developmental Biology, Mendelian Disorder +9

A sensorineural progressive autosomal recessive form of isolated deafness, DFNB13, maps to chromosome 7q34-q36

Mirna Mustapha, Sébastien Chardenoux, Alexandre Nieder et al. · European Journal of Human Genetics · 1998 · 43 citations · Full text

Developmental Anomaly, Isolated Deafness, Developmental Biology +10