title: Stereocilia: the long and the short of it.
abstract: Mutations in whirlin, a putative PDZ scaffold protein, have recently been shown to cause deafness and short cochlear hair cell stereocilia in whirler mice and recessive deafness (DFNB31) in humans. Through its PDZ domains, whirlin might organize a group of proteins into a functional complex required for stereocilia elongation. Identifying these protein partners will advance our understanding of the development of stereocilia and their function as mechanosensory organelles indispensable for normal hearing.
authors: Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, 5 Research Court, Rockville, MD 20850, USA.
authors: Inna A
authors: IA
authors: Belyantseva
authors: Valentina
authors: V
authors: Labay
authors: Erich T
authors: ET
authors: Boger
authors: Andrew J
authors: AJ
authors: Griffith
authors: Thomas B
authors: TB
authors: Friedman
mesh_terms: D000818:Animals; D003638:Deafness / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D006198:Hair Cells, Auditory / Q000378:metabolism* / Q000473:pathology; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics* / Q000378:metabolism; D051379:Mice
chemical_list: D008565:Membrane Proteins; C477219:WHRN protein, human; C477218:Whrn protein, mouse