Evolutionary Characterization of the Retinitis Pigmentosa GTPase Regulator Gene

Rakesh Kotapati Raghupathy; Philippe Gautier; Dinesh C. Soares; Alan F. Wright; Xinhua Shu

doi:10.1167/iovs.15-17726

Evolutionary Characterization of the Retinitis Pigmentosa GTPase Regulator Gene

Investigative Opthalmology & Visual Science ◽

10.1167/iovs.15-17726 ◽

2015 ◽

Vol 56 (11) ◽

pp. 6255 ◽

Cited By ~ 11

Author(s):

Rakesh Kotapati Raghupathy ◽

Philippe Gautier ◽

Dinesh C. Soares ◽

Alan F. Wright ◽

Xinhua Shu

Keyword(s):

Retinitis Pigmentosa ◽

Regulator Gene ◽

Retinitis Pigmentosa Gtpase Regulator

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Early-Onset X-Linked Retinitis Pigmentosa in a Heterozygous Female Harboring an Intronic Donor Splice Site Mutation in the Retinitis Pigmentosa GTPase Regulator Gene

Ophthalmic Genetics ◽

10.3109/13816810.2013.879597 ◽

2014 ◽

Vol 36 (3) ◽

pp. 251-256 ◽

Cited By ~ 2

Author(s):

Amde Selassie Shifera ◽

Christine Nichols Kay

Keyword(s):

Retinitis Pigmentosa ◽

Splice Site ◽

Early Onset ◽

Splice Site Mutation ◽

Donor Splice Site ◽

Regulator Gene ◽

Heterozygous Female ◽

Site Mutation ◽

Donor Splice ◽

Retinitis Pigmentosa Gtpase Regulator

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The human retinitis pigmentosa GTPase regulator gene variant database

Human Mutation ◽

10.1002/humu.20733 ◽

2008 ◽

Vol 29 (5) ◽

pp. 605-608 ◽

Cited By ~ 15

Author(s):

Xinhua Shu ◽

Ewan McDowall ◽

Alastair F. Brown ◽

Alan F. Wright

Keyword(s):

Retinitis Pigmentosa ◽

Gene Variant ◽

Regulator Gene ◽

Retinitis Pigmentosa Gtpase Regulator ◽

Variant Database

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Novel Mutation in Retinitis Pigmentosa GTPase Regulator Gene Causes Primary Ciliary Dyskinesia and Retinitis Pigmentosa

Ophthalmic Surgery Lasers and Imaging Retina ◽

10.3928/23258160-20180628-14 ◽

2018 ◽

Vol 49 (7) ◽

pp. 548-552 ◽

Cited By ~ 2

Author(s):

Jesse D. Sengillo ◽

Gabrielle Fridman ◽

Galaxy Y. Cho ◽

Christie Buchovecky ◽

Stephen H. Tsang

Keyword(s):

Retinitis Pigmentosa ◽

Primary Ciliary Dyskinesia ◽

Novel Mutation ◽

Regulator Gene ◽

Retinitis Pigmentosa Gtpase Regulator ◽

Ciliary Dyskinesia

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Population Haplotypes of Exon ORF15 of the Retinitis Pigmentosa GTPase Regulator Gene in Germany

Molecular Diagnosis & Therapy ◽

10.1007/bf03256451 ◽

2006 ◽

Vol 10 (2) ◽

pp. 115-123 ◽

Cited By ~ 4

Author(s):

Daniela Karra ◽

Felix K. Jacobi ◽

Martina Broghammer ◽

Nikolaus Blin ◽

Carsten M. Pusch

Keyword(s):

Retinitis Pigmentosa ◽

Regulator Gene ◽

Retinitis Pigmentosa Gtpase Regulator

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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 ◽

Cited By ~ 21

Author(s):

Yuquan Wen

Keyword(s):

Retinitis Pigmentosa ◽

Autosomal Dominant ◽

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 ◽

Cited By ~ 13

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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Molecular Characterization of Peripherin-2 and Rom-1 Mutants Responsible for Digenic Retinitis Pigmentosa

Journal of Biological Chemistry ◽

10.1074/jbc.m011710200 ◽

2001 ◽

Vol 276 (25) ◽

pp. 22388-22396 ◽

Cited By ~ 49

Author(s):

Christopher J. R. Loewen ◽

Orson L. Moritz ◽

Robert S. Molday

Keyword(s):

Retinitis Pigmentosa ◽

Molecular Characterization

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Cloning and characterization of the alkaline phosphatase positive regulator gene (phoB) of Escherichia coli

MGG Molecular & General Genetics ◽

10.1007/bf00331115 ◽

1982 ◽

Vol 187 (2) ◽

pp. 181-186 ◽

Cited By ~ 16

Author(s):

Kozo Makino ◽

Hideo Shinagawa ◽

Atsuo Nakata

Keyword(s):

Escherichia Coli ◽

Alkaline Phosphatase ◽

Regulator Gene ◽

Positive Regulator

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[45] Isolation of retinal proteins that interact with retinitis pigmentosa gtpase regulator by interaction trap screen in yeast

Methods in Enzymology - Vertebrate Phototransduction and the Visual Cycle, Part B ◽

10.1016/s0076-6879(00)16757-6 ◽

2000 ◽

pp. 688-704 ◽

Cited By ~ 19

Author(s):

Ronald Roepman ◽

Diana Schick ◽

Paulo A. Ferreira

Keyword(s):

Retinitis Pigmentosa ◽

Retinitis Pigmentosa Gtpase Regulator ◽

Retinal Proteins ◽

Interaction Trap

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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 ◽

Cited By ~ 9

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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