Article
Loss of the metalloprotease ADAM9 leads to cone-rod dystrophy in humans and retinal degeneration in mice.
American journal of human genetics - 1 May 2009
Parry David A, Toomes Carmel, Bida Lina, Danciger Michael, Towns Katherine V, McKibbin Martin, Jacobson Samuel G, Logan Clare V, Ali Manir, Bond Jacquelyn, Chance Rebecca, Swendeman Steven, Daniele Lauren L, Springell Kelly, Adams Matthew, Johnson Colin A, Booth Adam P, Jafri Hussain, Rashid Yasmin, Banin Eyal, Strom Tim M, Farber Debora B, Sharon Dror, Blobel Carl P, Pugh Edward N, Pierce Eric A, Inglehearn Chris F
Abstract excerpt
Cone-rod dystrophy (CRD) is an inherited progressive retinal dystrophy affecting the function of cone and rod photoreceptors. By autozygosity mapping, we identified null mutations in the ADAM metallopeptidase domain 9 (ADAM9) gene in four consanguineous families with recessively inherited early-onset CRD. We also found reduced photoreceptor responses in Adam9 knockout mice, previously reported to be asymptomatic....
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