Ding XQ , Naash MI .

EY-10609 NEI NIH HHS , R01 EY010609-09 NEI NIH HHS , R01 EY010609 NEI NIH HHS , R56 EY010609 NEI NIH HHS

Apfelstedt-Sylla, Extensive intrafamilial and interfamilial phenotypic variation among patients with autosomal dominant retinal dystrophy and mutations in the human RDS/peripherin gene. 1995, Pubmed

Apfelstedt-Sylla, Extensive intrafamilial and interfamilial phenotypic variation among patients with autosomal dominant retinal dystrophy and mutations in the human RDS/peripherin gene. 1995, Pubmed
Ding, The R172W mutation in peripherin/rds causes a cone-rod dystrophy in transgenic mice. 2004, Pubmed
Dryja, Dominant and digenic mutations in the peripherin/RDS and ROM1 genes in retinitis pigmentosa. 1997, Pubmed
Ekström, A Swedish family with a mutation in the peripherin/RDS gene (Arg-172-Trp) associated with a progressive retinal degeneration. 1998, Pubmed
Goldberg, Heterologous expression of photoreceptor peripherin/rds and Rom-1 in COS-1 cells: assembly, interactions, and localization of multisubunit complexes. 1995, Pubmed
Jacobson, Preferential rod and cone photoreceptor abnormalities in heterozygotes with point mutations in the RDS gene. 1996, Pubmed
Kajiwara, Mutations in the human retinal degeneration slow gene in autosomal dominant retinitis pigmentosa. 1991, Pubmed
Kedzierski, Generation and analysis of transgenic mice expressing P216L-substituted rds/peripherin in rod photoreceptors. 1997, Pubmed
Kedzierski, Analysis of the rds/peripherin.rom1 complex in transgenic photoreceptors that express a chimeric protein. 1999, Pubmed
Kedzierski, Deficiency of rds/peripherin causes photoreceptor death in mouse models of digenic and dominant retinitis pigmentosa. 2001, Pubmed
Kohl, The role of the peripherin/RDS gene in retinal dystrophies. 1998, Pubmed
Loewen, The role of subunit assembly in peripherin-2 targeting to rod photoreceptor disk membranes and retinitis pigmentosa. 2003, Pubmed , Xenbase
McNally, Murine model of autosomal dominant retinitis pigmentosa generated by targeted deletion at codon 307 of the rds-peripherin gene. 2002, Pubmed
Millá, [Mutational screening of peripherin/RDS genes, rhodopsin and ROM-1 in 69 index cases with retinitis pigmentosa and other retinal dystrophies]. 1998, Pubmed
Molday, Photoreceptor membrane proteins, phototransduction, and retinal degenerative diseases. The Friedenwald Lecture. 1998, Pubmed
Nakazawa, Macular dystrophy associated with monogenic Arg172Trp mutation of the peripherin/RDS gene in a Japanese family. 1995, Pubmed
Nour, Modulating expression of peripherin/rds in transgenic mice: critical levels and the effect of overexpression. 2004, Pubmed
Payne, Founder effect, seen in the British population, of the 172 peripherin/RDS mutation-and further refinement of genetic positioning of the peripherin/RDS gene. 1998, Pubmed
Ritter, Uncoupling of photoreceptor peripherin/rds fusogenic activity from biosynthesis, subunit assembly, and targeting: a potential mechanism for pathogenic effects. 2004, Pubmed , Xenbase
Saga, A novel Cys-214-Ser mutation in the peripherin/RDS gene in a Japanese family with autosomal dominant retinitis pigmentosa. 1993, Pubmed
Tam, The C terminus of peripherin/rds participates in rod outer segment targeting and alignment of disk incisures. 2004, Pubmed , Xenbase
Wells, Mutations in the human retinal degeneration slow (RDS) gene can cause either retinitis pigmentosa or macular dystrophy. 1993, Pubmed
Wroblewski, Macular dystrophy associated with mutations at codon 172 in the human retinal degeneration slow gene. 1994, Pubmed