Phenotypic Characterization of 3 Families With Autosomal Dominant Retinitis Pigmentosa Due to Mutations in KLHL7

Archives of Ophthalmology ◽

10.1001/archophthalmol.2011.307 ◽

2011 ◽

Vol 129 (11) ◽

pp. 1475 ◽

Author(s):

Yuquan Wen

Keyword(s):

Retinitis Pigmentosa ◽

Autosomal Dominant ◽

Phenotypic Characterization ◽

Autosomal Dominant Retinitis Pigmentosa

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Phenotypic Characterization of a Large Family With RP10 Autosomal-Dominant Retinitis Pigmentosa: An Asp226Asn Mutation in the IMPDH1 Gene

American Journal of Ophthalmology ◽

10.1016/j.ajo.2005.05.027 ◽

2005 ◽

Vol 140 (5) ◽

pp. 858-867.e1 ◽

Author(s):

Petra Kozma ◽

Dianna K. Hughbanks-Wheaton ◽

Kirsten G. Locke ◽

Garry E. Fish ◽

Anisa I. Gire ◽

...

Keyword(s):

Retinitis Pigmentosa ◽

Autosomal Dominant ◽

Large Family ◽

Phenotypic Characterization ◽

Autosomal Dominant Retinitis Pigmentosa

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Breakpoint characterization of a novel ∼59 kb genomic deletion on 19q13.42 in autosomal-dominant retinitis pigmentosa with incomplete penetrance

European Journal of Human Genetics ◽

10.1038/ejhg.2008.223 ◽

2008 ◽

Vol 17 (5) ◽

pp. 651-655 ◽

Author(s):

Linda Köhn ◽

Sara J Bowne ◽

Lori S Sullivan ◽

Stephen P Daiger ◽

Marie SI Burstedt ◽

...

Keyword(s):

Retinitis Pigmentosa ◽

Autosomal Dominant ◽

Incomplete Penetrance ◽

Genomic Deletion ◽

Autosomal Dominant Retinitis Pigmentosa

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Synthesis and characterization of a novel retinylamine analog inhibitor of constitutively active rhodopsin mutants found in patients with autosomal dominant retinitis pigmentosa

Proceedings of the National Academy of Sciences ◽

10.1073/pnas.94.25.13559 ◽

1997 ◽

Vol 94 (25) ◽

pp. 13559-13564 ◽

Author(s):

T. Yang ◽

B. B. Snider ◽

D. D. Oprian

Keyword(s):

Retinitis Pigmentosa ◽

Autosomal Dominant ◽

Synthesis And Characterization ◽

Autosomal Dominant Retinitis Pigmentosa ◽

Constitutively Active

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High Prevalence of PRPH2 in Autosomal Dominant Retinitis Pigmentosa in France and Characterization of Biochemical and Clinical Features

American Journal of Ophthalmology ◽

10.1016/j.ajo.2014.10.033 ◽

2015 ◽

Vol 159 (2) ◽

pp. 302-314 ◽

Author(s):

Gaël Manes ◽

Tremeur Guillaumie ◽

Werner L. Vos ◽

Aurore Devos ◽

Isabelle Audo ◽

...

Keyword(s):

Retinitis Pigmentosa ◽

Clinical Features ◽

Autosomal Dominant ◽

Autosomal Dominant Retinitis Pigmentosa ◽

High Prevalence

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921. Gene Therapy for P23H Rhodopsin-Linked Autosomal Dominant Retinitis Pigmentosa (ADRP): Characterization of Allele-Specific Hammerhead Ribozymes and Production of Human P23H Rhodopsin Transgenic Mice

Molecular Therapy ◽

10.1016/s1525-0016(16)43751-2 ◽

2002 ◽

Vol 5 (5) ◽

pp. S301

Keyword(s):

Gene Therapy ◽

Transgenic Mice ◽

Retinitis Pigmentosa ◽

Autosomal Dominant ◽

Hammerhead Ribozymes ◽

Autosomal Dominant Retinitis Pigmentosa ◽

Allele Specific

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Characterization of Pupil Responses to Blue and Red Light Stimuli in Autosomal Dominant Retinitis Pigmentosa due toNR2E3Mutation

Investigative Opthalmology & Visual Science ◽

10.1167/iovs.12-10230 ◽

2012 ◽

Vol 53 (9) ◽

pp. 5562 ◽

Author(s):

Aki Kawasaki ◽

Sylvain V. Crippa ◽

Randy Kardon ◽

Lorette Leon ◽

Christian Hamel

Keyword(s):

Retinitis Pigmentosa ◽

Autosomal Dominant ◽

Red Light ◽

Autosomal Dominant Retinitis Pigmentosa ◽

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Characterization of mutant rhodopsins responsible for autosomal dominant retinitis pigmentosa. Mutations on the cytoplasmic surface affect transducin activation

Journal of Biological Chemistry ◽

10.1016/s0021-9258(18)98364-x ◽

1993 ◽

Vol 268 (13) ◽

pp. 9400-9404

Author(s):

K.C. Min ◽

T.A. Zvyaga ◽

A.M. Cypess ◽

T.P. Sakmar

Keyword(s):

Retinitis Pigmentosa ◽

Autosomal Dominant ◽

Autosomal Dominant Retinitis Pigmentosa ◽

Cytoplasmic Surface

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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 ◽

Autosomal Dominant Retinitis Pigmentosa

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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 ◽

Autosomal Dominant Retinitis Pigmentosa ◽

Ubiquitin Proteasome

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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 ◽

Autosomal Dominant Retinitis Pigmentosa ◽

Functional Classes ◽

Rhodopsin Mutations

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