The human retinitis pigmentosa GTPase regulator gene variant database

Variant Database

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 ◽

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 ◽

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 ◽

Ciliary Dyskinesia

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 ◽

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

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

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 ◽

Retinal Proteins ◽

Interaction Trap

Development and first results of the BEAT-PCD international Primary Ciliary Dyskinesia gene variant database: CiliaVar

10.1183/13993003.congress-2021.pa3458 ◽

2021 ◽

Author(s):

Rahma Mani ◽

Mafalda Gomes ◽

Adrián Rodríguez González ◽

Claire Hogg ◽

Deborah Morris-Rosendahl ◽

...

Keyword(s):

Primary Ciliary Dyskinesia ◽

Gene Variant ◽

First Results ◽

Ciliary Dyskinesia ◽

Variant Database

Expression and localization of the ciliary disease protein retinitis pigmentosa GTPase regulator in mammalian kidney

Kidney International ◽

10.1038/ki.2010.252 ◽

2010 ◽

Vol 78 (6) ◽

pp. 622-623 ◽

Cited By ~ 2

Author(s):

Suresh B. Patil ◽

Rakesh Verma ◽

Madhusudan Venkatareddy ◽

Hemant Khanna

Keyword(s):

Retinitis Pigmentosa ◽

Mammalian Kidney ◽

Disease Protein ◽

Loss of human disease protein retinitis pigmentosa GTPase regulator (RPGR) differentially affects rod or cone-enriched retina

Human Molecular Genetics ◽

10.1093/hmg/ddw017 ◽

2016 ◽

Vol 25 (7) ◽

pp. 1345-1356 ◽

Cited By ~ 13

Author(s):

Kollu N. Rao ◽

Linjing Li ◽

Wei Zhang ◽

Richard S. Brush ◽

Raju V.S. Rajala ◽

...

Keyword(s):

Retinitis Pigmentosa ◽

Human Disease ◽

Disease Protein ◽

DNA sequence comparison of human and mouse retinitis pigmentosa GTPase regulator (RPGR) identifies tissue-specific exons and putative regulatory elements

Human Genetics ◽

10.1007/s004390100572 ◽

2001 ◽

Vol 109 (3) ◽

pp. 271-278 ◽

Cited By ~ 11

Author(s):

Renate Kirschner ◽

Deniz Erturk ◽

Christina Zeitz ◽

Selen Sahin ◽

Juliane Ramser ◽

...

Keyword(s):

Retinitis Pigmentosa ◽

Dna Sequence ◽

Sequence Comparison ◽

Regulatory Elements ◽

Tissue Specific ◽

Human And Mouse ◽

Dna Sequence Comparison

Biochemical Characterization and Subcellular Localization of the Mouse Retinitis Pigmentosa GTPase Regulator (mRpgr)

Journal of Biological Chemistry ◽

10.1074/jbc.273.31.19656 ◽

1998 ◽

Vol 273 (31) ◽

pp. 19656-19663 ◽

Cited By ~ 49

Author(s):

Denise Yan ◽

Prabodha K. Swain ◽

Debra Breuer ◽

Rebecca M. Tucker ◽

Weiping Wu ◽

...

Keyword(s):

Retinitis Pigmentosa ◽

Subcellular Localization ◽

Biochemical Characterization ◽