The F220C and F45L rhodopsin mutations identified in retinitis pigmentosa patients do not cause pathology in mice

Rhodopsin mutations responsible for autosomal dominant retinitis pigmentosa. Clustering of functional classes along the polypeptide chain.

Journal of Biological Chemistry ◽

10.1016/s0021-9258(19)74360-9 ◽

1993 ◽

Vol 268 (35) ◽

pp. 26645-26649

Author(s):

C H Sung ◽

C M Davenport ◽

J Nathans

Keyword(s):

Retinitis Pigmentosa ◽

Autosomal Dominant ◽

Polypeptide Chain ◽

Functional Classes ◽

Complexity of the Class B Phenotype in Autosomal Dominant Retinitis Pigmentosa Due to Rhodopsin Mutations

Investigative Opthalmology & Visual Science ◽

10.1167/iovs.16-19890 ◽

2016 ◽

Vol 57 (11) ◽

pp. 4847 ◽

Cited By ~ 15

Author(s):

Samuel G. Jacobson ◽

David B. McGuigan ◽

Alexander Sumaroka ◽

Alejandro J. Roman ◽

Michaela L. Gruzensky ◽

...

Keyword(s):

Retinitis Pigmentosa ◽

Autosomal Dominant ◽

Class B ◽

Rhodopsin mutations in autosomal dominant retinitis pigmentosa

Human Mutation ◽

10.1002/humu.1380020403 ◽

1993 ◽

Vol 2 (4) ◽

pp. 249-255 ◽

Cited By ~ 51

Author(s):

Mai Al-Maghtheh ◽

Cheryl Gregory ◽

Chris Inglehearn ◽

Alison Hardcastle ◽

Shomi Bhattacharya

Keyword(s):

Retinitis Pigmentosa ◽

Autosomal Dominant ◽

Phenotypes of Carboxyl-Terminal Rhodopsin Mutations in Autosomal Dominant Retinitis Pigmentosa

Retinal Degeneration ◽

10.1007/978-1-4615-2974-3_11 ◽

1993 ◽

pp. 115-125

Author(s):

Eckart Apfelstedt-Sylla ◽

Susanna Bunge ◽

Dezsö David ◽

Klaus Rüther ◽

Andreas Gal ◽

...

Keyword(s):

Retinitis Pigmentosa ◽

Autosomal Dominant ◽

Carboxyl Terminal ◽

Rhodopsin mutations in a Scottish retinitis pigmentosa population, including a novel splice site mutation in intron four.

British Journal of Ophthalmology ◽

10.1136/bjo.78.12.933 ◽

1994 ◽

Vol 78 (12) ◽

pp. 933-938 ◽

Cited By ~ 12

Author(s):

C Bell ◽

C A Converse ◽

H M Hammer ◽

A Osborne ◽

N E Haites

Keyword(s):

Retinitis Pigmentosa ◽

Splice Site ◽

Splice Site Mutation ◽

Site Mutation ◽

Rhodopsin Mutations in Sectorial Retinitis Pigmentosa

New Insights Into Retinal Degenerative Diseases ◽

10.1007/978-1-4615-1355-1_10 ◽

2001 ◽

pp. 87-94

Author(s):

S. Kaushal ◽

D. A. R. Bessant ◽

A. M. Payne ◽

S. M. Downes ◽

G. E. Holder ◽

...

Keyword(s):

Retinitis Pigmentosa ◽

Three novel rhodopsin mutations (C110F, L131P, A164V) in patients with autosomal dominant retinitis pigmentosa

Human Molecular Genetics ◽

10.1093/hmg/3.7.1203 ◽

1994 ◽

Vol 3 (7) ◽

pp. 1203-1203 ◽

Cited By ~ 19

Author(s):

S. Fuchs ◽

H. Kranich ◽

M.J. Denton ◽

E. Zrenner ◽

S.S. Bhattacharya ◽

...

Keyword(s):

Retinitis Pigmentosa ◽

Autosomal Dominant ◽

484. Preclinical Proof of Concept of Transcriptional Silencing and Replacement Strategy for Treatment of Retinitis Pigmentosa Due To RHODOPSIN Mutations

Molecular Therapy ◽

10.1016/s1525-0016(16)34093-x ◽

2015 ◽

Vol 23 ◽

pp. S192

Author(s):

Salvatore Botta ◽

Elena Marrocco ◽

Nicola de Prisco ◽

Fabiola Curion ◽

Martina Sofia ◽

...

Keyword(s):

Retinitis Pigmentosa ◽

Transcriptional Silencing ◽

Proof Of Concept ◽

Replacement Strategy ◽

Retinitis pigmentosa associated with rhodopsin mutations: Correlation between phenotypic variability and molecular effects

Vision Research ◽

10.1016/j.visres.2006.08.018 ◽

2006 ◽

Vol 46 (27) ◽

pp. 4556-4567 ◽

Cited By ~ 39

Author(s):

Alessandro Iannaccone ◽

David Man ◽

Naushin Waseem ◽

Barbara J. Jennings ◽

Madhavi Ganapathiraju ◽

...

Keyword(s):

Retinitis Pigmentosa ◽

Phenotypic Variability ◽

Molecular Effects ◽

Retinal histopathology in eyes from patients with autosomal dominant retinitis pigmentosa caused by rhodopsin mutations

Graefe s Archive for Clinical and Experimental Ophthalmology ◽

10.1007/s00417-015-3099-7 ◽

2015 ◽

Vol 253 (12) ◽

pp. 2161-2169 ◽

Cited By ~ 2

Author(s):

Vera L. Bonilha ◽

Mary E. Rayborn ◽

Brent A. Bell ◽

Meghan J. Marino ◽

Craig D. Beight ◽

...

Keyword(s):

Retinitis Pigmentosa ◽

Autosomal Dominant ◽