Novel rhodopsin mutation in an autosomal dominant retinitis pigmentosa family: phenotypic variation in both heterozygote and homozygote Val137Met mutant patients

A Study to Evaluate the Safety and Tolerability of QR-1123 in Subjects With Autosomal Dominant Retinitis Pigmentosa Due to the P23H Mutation in the RHO Gene

Case Medical Research ◽

10.31525/ct1-nct04123626 ◽

2019 ◽

Author(s):

Keyword(s):

Retinitis Pigmentosa ◽

Autosomal Dominant ◽

Faculty Opinions recommendation of A rhodopsin mutant linked to autosomal dominant retinitis pigmentosa is prone to aggregate and interacts with the ubiquitin proteasome system.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.1008543.108057 ◽

2002 ◽

Author(s):

David Bessant

Keyword(s):

Retinitis Pigmentosa ◽

Autosomal Dominant ◽

Ubiquitin Proteasome System ◽

Ubiquitin Proteasome

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 ◽

Rhodopsin Mutations

Further Screening of the Rhodopsin Gene in Patients with Autosomal Dominant Retinitis Pigmentosa

Genomics ◽

10.1006/geno.1994.1301 ◽

1994 ◽

Vol 21 (2) ◽

pp. 461-463 ◽

Cited By ~ 34

Author(s):

Rajani Vaithinathan ◽

Eliot L. Berson ◽

Thaddeus P. Dryja

Keyword(s):

Retinitis Pigmentosa ◽

Autosomal Dominant ◽

Rhodopsin Gene

Ocular Findings Associated With a Rhodopsin Gene Codon 58 Transversion Mutation in Autosomal Dominant Retinitis Pigmentosa

Archives of Ophthalmology ◽

10.1001/archopht.1991.01080100067044 ◽

1991 ◽

Vol 109 (10) ◽

pp. 1387 ◽

Cited By ~ 72

Author(s):

Gerald A. Fishman

Keyword(s):

Retinitis Pigmentosa ◽

Autosomal Dominant ◽

Rhodopsin Gene ◽

Ocular Findings ◽

Transversion Mutation

Ocular Findings in Patients With Autosomal Dominant Retinitis Pigmentosa and Transversion Mutation in Codon 244 (Asn244Lys) of the Peripherin/RDS Gene

Archives of Ophthalmology ◽

10.1001/archopht.1994.01090240073028 ◽

1994 ◽

Vol 112 (12) ◽

pp. 1567 ◽

Cited By ~ 13

Author(s):

Mitsuru Nakazawa

Keyword(s):

Retinitis Pigmentosa ◽

Autosomal Dominant ◽

Ocular Findings ◽

Transversion Mutation

Autosomal dominant retinitis pigmentosa with apparent incomplete penetrance: a clinical, electrophysiological, psychophysical, and molecular genetic study.

British Journal of Ophthalmology ◽

10.1136/bjo.77.8.473 ◽

1993 ◽

Vol 77 (8) ◽

pp. 473-479 ◽

Cited By ~ 33

Author(s):

A T Moore ◽

F Fitzke ◽

M Jay ◽

G B Arden ◽

C F Inglehearn ◽

...

Keyword(s):

Retinitis Pigmentosa ◽

Genetic Study ◽

Autosomal Dominant ◽

Molecular Genetic ◽

Incomplete Penetrance ◽

Molecular Genetic Study ◽

Three novel and the common Arg677Ter RP1 protein truncating mutations causing autosomal dominant retinitis pigmentosa in a Spanish population

BMC Medical Genetics ◽

10.1186/1471-2350-7-35 ◽

2006 ◽

Vol 7 (1) ◽

Cited By ~ 8

Author(s):

María José Gamundi ◽

Imma Hernan ◽

María Martínez-Gimeno ◽

Miquel Maseras ◽

Blanca García-Sandoval ◽

...

Keyword(s):

Retinitis Pigmentosa ◽

Autosomal Dominant ◽

Spanish Population ◽

The Common

Identification of a sixth locus for autosomal dominant retinitis pigmentosa on chromosome 19

Human Molecular Genetics ◽

10.1093/hmg/3.2.351 ◽

1994 ◽

Vol 3 (2) ◽

pp. 351-354 ◽

Cited By ~ 83

Author(s):

Mai Al-Maghtheh ◽

Chris F. Inglehearn ◽

T. Keen Jeffrey ◽

Kevin Evans ◽

Anthony T. Moore ◽

...

Keyword(s):

Retinitis Pigmentosa ◽

Autosomal Dominant ◽

Chromosome 19 ◽

Exclusion of chromosome 6 and 8 locations in nonrhodopsin autosomal dominant retinitis pigmentosa families: Further locus heterogeneity in adRP

Genomics ◽

10.1016/s0888-7543(05)80306-4 ◽

1992 ◽

Vol 14 (1) ◽

pp. 191-193 ◽

Cited By ~ 5

Author(s):

R. Bashir ◽

C.F. Inglehearn ◽

T.J. Keen ◽

J. Lindsey ◽

U. Atif ◽

...

Keyword(s):

Retinitis Pigmentosa ◽

Autosomal Dominant ◽

Chromosome 6 ◽

Locus Heterogeneity ◽