Article
An integrated genetic and functional analysis of the role of type II transmembrane serine proteases (TMPRSSs) in hearing loss.
Human mutation - 1 Jan 2008
Guipponi Michel, Toh Min-Yen, Tan Justin, Park Daeho, Hanson Kelly, Ballana Ester, Kwong David, Cannon Ping Z F, Wu Qingyu, Gout Alex, Delorenzi Mauro, Speed Terence P, Smith Richard J H, Dahl Henrik H, Petersen Michael, Teasdale Rohan D, Estivill Xavier, Park Woo Jin, Scott Hamish S
Abstract excerpt
Building on our discovery that mutations in the transmembrane serine protease, TMPRSS3, cause nonsyndromic deafness, we have investigated the contribution of other TMPRSS family members to the auditory function. To identify which of the 16 known TMPRSS genes had a strong likelihood of involvement in hearing function, three types of biological evidence were examined: 1) expression in inner ear tissues; 2) location...
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