Biochemical evidence for pathogenicity of rhodopsin kinase mutations correlated with the Oguchi form of congenital stationary night blindness

Biochemical evidence for pathogenicity of rhodopsin kinase mutations correlated with the Oguchi form of congenital stationary night blindness (phototransductionyretinayisoprenylation humanyretinopathy)

Rhodopsin kinase (RK), a rod photoreceptor cytosolic enzyme, plays a key role in the normal deactivation and recovery of the photoreceptor after exposure to light. To date, three different mutations in the RK locus have been associated with Oguchi disease, an autosomal recessive form of stationary night blindness in man characterized in part by delayed photoreceptor recovery [Yamamoto, S., Sipp...

متن کامل

TRPM1 mutations are associated with the complete form of congenital stationary night blindness

PURPOSE To identify human transient receptor potential cation channel, subfamily M, member 1 (TRPM1) gene mutations in patients with congenital stationary night blindness (CSNB). METHODS We analyzed four different Japanese patients with complete CSNB in whom previous molecular examination revealed no mutation in either nyctalopin (NYX) or glutamate receptor, metabotropic 6 (GRM6). The ophthal...

متن کامل

Congenital Stationary Night Blindness Panel

Test code: OP1201 The Blueprint Genetics Congenital Stationary Night Blindness Panel is a 17 gene test for genetic diagnostics of patients with clinical suspicion of congenital stationary night blindness. The panel covers genes associated with autosomal recessive, autosomal dominant and X-linked forms of congenital stationary night blindness (CSNB). The clinical utility of this diagnostic panel...

متن کامل

Congenital Stationary Night Blindness Panel

Test code: OP1201 The Blueprint Genetics Congenital Stationary Night Blindness Panel is a 17 gene test for genetic diagnostics of patients with clinical suspicion of congenital stationary night blindness. The panel covers genes associated with autosomal recessive, autosomal dominant and X-linked forms of congenital stationary night blindness (CSNB). The clinical utility of this diagnostic panel...

متن کامل

Congenital Stationary Night Blindness Panel

Test code: OP1201 The Blueprint Genetics Congenital Stationary Night Blindness Panel is a 17 gene test for genetic diagnostics of patients with clinical suspicion of congenital stationary night blindness. The panel covers genes associated with autosomal recessive, autosomal dominant and X-linked forms of congenital stationary night blindness (CSNB). The clinical utility of this diagnostic panel...

متن کامل

Biochemical evidence for pathogenicity of rhodopsin kinase mutations correlated with the Oguchi form of congenital stationary night blindness

نویسندگان

چکیده

برای دانلود باید عضویت طلایی داشته باشید

منابع مشابه