PMC Links for Gene (Select 6102) - PMC

Links from Gene

Items: 1 to 20 of 52

<< First< Prev

Page of 3

Select item 111396451.

RP2-Associated X-linked Retinopathy: Clinical Findings, Molecular Genetics, and Natural History in a Large Cohort of Female Carriers

Michalis Georgiou, Anthony G. Robson, Sami H. Uwaydat, Marco H. Ji, Ahmed F. Shakarchi, Nikolas Pontikos, Omar A. Mahroo, Michael E. Cheetham, Andrew R. Webster, Alison J. Hardcastle, Michel Michaelides

Am J Ophthalmol. 2024 May; 261: 112–120. doi: 10.1016/j.ajo.2023.11.005

PMCID:: PMC11139645

Abstract Article PDF–1.5M

Select item 107151122.

A Novel Arg120Pro Mutation in the RP2 Gene in an Iranian Family with X-linked Retinitis Pigmentosa: A Case Report

Nasrin Mansouri, Parichehr Darabi, Masoumeh Favaedi, Hanieh Faizmahdavi, Soheila Nankali, Marjan Assefi, Alireza Sharafshah, Vahid Omarmeli

Iran J Med Sci. 2023 Nov; 48(6): 606–611. Published online 2023 Nov 1. doi: 10.30476/IJMS.2022.96392.2792

PMCID:: PMC10715112

Abstract Article PDF–1.5M

Select item 49865493.

Translational read-through of the RP2 Arg120stop mutation in patient iPSC-derived retinal pigment epithelium cells

Nele Schwarz, Amanda-Jayne Carr, Amelia Lane, Fabian Moeller, Li Li Chen, Mònica Aguilà, Britta Nommiste, Manickam N. Muthiah, Naheed Kanuga, Uwe Wolfrum, Kerstin Nagel-Wolfrum, Lyndon da Cruz, Peter J. Coffey, Michael E. Cheetham, Alison J. Hardcastle

Hum Mol Genet. 2015 Feb 15; 24(4): 972–986. Published online 2014 Oct 6. doi: 10.1093/hmg/ddu509

PMCID:: PMC4986549

Abstract Article PDF–1.5M

Select item 41175324.

5^meCpG Epigenetic Marks Neighboring a Primate-Conserved Core Promoter Short Tandem Repeat Indicate X-Chromosome Inactivation

Filipe Brum Machado, Fabricio Brum Machado, Milena Amendro Faria, Viviane Lamim Lovatel, Antonio Francisco Alves da Silva, Claudia Pamela Radic, Carlos Daniel De Brasi, Álvaro Fabricio Lopes Rios, Susana Marina Chuva de Sousa Lopes, Leonardo Serafim da Silveira, Carlos Ramon Ruiz-Miranda, Ester Silveira Ramos, Enrique Medina-Acosta

PLoS One. 2014; 9(7): e103714. Published online 2014 Jul 31. doi: 10.1371/journal.pone.0103714

PMCID:: PMC4117532

Abstract Article PDF–1.6M

Select item 33921905.

THE RP2 PHENOTYPE AND PATHOGENETIC CORRELATIONS IN X-LINKED RETINITIS PIGMENTOSA

Thiran Jayasundera, Kari EH Branham, Mohammad Othman, William R Rhoades, Athanasios J Karoukis, Hemant Khanna, Anand Swaroop, John R. Heckenlively

Arch Ophthalmol. Author manuscript; available in PMC 2012 Jul 9.

Published in final edited form as: Arch Ophthalmol. 2010 Jul; 128(7): 915–923. doi: 10.1001/archophthalmol.2010.122

PMCID:: PMC3392190

Abstract Article PDF–1.8M

Select item 13778466.

Mutations in the RP2 gene cause disease in 10% of families with familial X-linked retinitis pigmentosa assessed in this study.

A J Hardcastle, D L Thiselton, L Van Maldergem, B K Saha, M Jay, C Plant, R Taylor, A C Bird, S Bhattacharya

Am J Hum Genet. 1999 Apr; 64(4): 1210–1215. doi: 10.1086/302325

PMCID:: PMC1377846

Summary PDF–314K

Select item 13778097.

Protein-truncation mutations in the RP2 gene in a North American cohort of families with X-linked retinitis pigmentosa.

A J Mears, L Gieser, D Yan, C Chen, S Fahrner, S Hiriyanna, R Fujita, S G Jacobson, P A Sieving, A Swaroop

Am J Hum Genet. 1999 Mar; 64(3): 897–900. doi: 10.1086/302298

PMCID:: PMC1377809

Summary PDF–604K

Select item 82714688.

Mechanism of Guanosine Triphosphate Hydrolysis by the Visual Proteins Arl3-RP2: Free Energy Reaction Profiles Computed with Ab Initio Type QM/MM Potentials

Maria G. Khrenova, Egor S. Bulavko, Fedor D. Mulashkin, Alexander V. Nemukhin

Molecules. 2021 Jul; 26(13): 3998. Published online 2021 Jun 30. doi: 10.3390/molecules26133998

PMCID:: PMC8271468

Abstract Article PDF–5.1M

Select item 53536429.

Analysis of RP2 and RPGR Mutations in Five X-Linked Chinese Families with Retinitis Pigmentosa

Jingjing Jiang, Xiaofei Wu, Di Shen, Lijin Dong, Xiaodong Jiao, J. Fielding Hejtmancik, Ningdong Li

Sci Rep. 2017; 7: 44465. Published online 2017 Mar 15. doi: 10.1038/srep44465

PMCID:: PMC5353642

Abstract Article PDF–1.4M

Select item 359719210.

Mutations in the X-Linked Retinitis Pigmentosa Genes RPGR and RP2 Found in 8.5% of Families with a Provisional Diagnosis of Autosomal Dominant Retinitis Pigmentosa

Jennifer D. Churchill, Sara J. Bowne, Lori S. Sullivan, Richard Alan Lewis, Dianna K. Wheaton, David G. Birch, Kari E. Branham, John R. Heckenlively, Stephen P. Daiger

Invest Ophthalmol Vis Sci. 2013 Feb; 54(2): 1411–1416. Published online 2013 Feb 19. doi: 10.1167/iovs.12-11541

PMCID:: PMC3597192

Abstract Article PDF–369K

Select item 352244311.

Mutations in RPGR and RP2 Account for 15% of Males with Simplex Retinal Degenerative Disease

Kari Branham, Mohammad Othman, Matthew Brumm, Athanasios J. Karoukis, Pelin Atmaca-Sonmez, Beverly M. Yashar, Sharon B. Schwartz, Niamh B. Stover, Karmen Trzupek, Dianna Wheaton, Barbara Jennings, Maria Laura Ciccarelli, K. Thiran Jayasundera, Richard A. Lewis, David Birch, Jean Bennett, Paul A. Sieving, Sten Andreasson, Jacque L. Duncan, Gerald A. Fishman, Alessandro Iannaccone, Richard G. Weleber, Samuel G. Jacobson, John R. Heckenlively, Anand Swaroop

Invest Ophthalmol Vis Sci. 2012 Dec; 53(13): 8232–8237. Published online 2012 Dec 13. doi: 10.1167/iovs.12-11025

PMCID:: PMC3522443

Abstract Article PDF–157K

Select item 303901712.

Localization of retinitis pigmentosa 2 to cilia is regulated by Importin β2

Toby W. Hurd, Shuling Fan, Ben L. Margolis

J Cell Sci. 2011 Mar 1; 124(5): 718–726. Published online 2011 Feb 1. doi: 10.1242/jcs.070839

PMCID:: PMC3039017

Abstract Article

Select item 118049213.

RP2 and RPGR Mutations and Clinical Correlations in Patients with X-Linked Retinitis Pigmentosa

Dror Sharon, Michael A. Sandberg, Vivian W. Rabe, Melissa Stillberger, Thaddeus P. Dryja, Eliot L. Berson

Am J Hum Genet. 2003 Nov; 73(5): 1131–1146. Published online 2003 Oct 16. doi: 10.1086/379379

PMCID:: PMC1180492

Abstract Article PDF–382K

Select item 37914114.

A Comprehensive Mutation Analysis of RP2 and RPGR in a North American Cohort of Families with X-Linked Retinitis Pigmentosa

Debra K. Breuer, Beverly M. Yashar, Elena Filippova, Suja Hiriyanna, Robert H. Lyons, Alan J. Mears, Bersabell Asaye, Ceren Acar, Raf Vervoort, Alan F. Wright, Maria A. Musarella, Patricia Wheeler, Ian MacDonald, Alessandro Iannaccone, David Birch, Dennis R. Hoffman, Gerald A. Fishman, John R. Heckenlively, Samuel G. Jacobson, Paul A. Sieving, Anand Swaroop

Am J Hum Genet. 2002 Jun; 70(6): 1545–1554. Published online 2002 Apr 30. doi: 10.1086/340848

Correction in:: Am J Hum Genet. 2002 Nov; 71(5): 1258.

PMCID:: PMC379141

Abstract Article PDF–179K

Select item 723114515.

Increasing the Genetic Diagnosis Yield in Inherited Retinal Dystrophies: Assigning Pathogenicity to Novel Non-canonical Splice Site Variants

Vasileios Toulis, Vianney Cortés-González, Marta de Castro-Miró, Juliana Ferraz Sallum, Jaume Català-Mora, Cristina Villanueva-Mendoza, Marcela Ciccioli, Roser Gonzàlez-Duarte, Rebeca Valero, Gemma Marfany

Genes (Basel) 2020 Apr; 11(4): 378. Published online 2020 Mar 31. doi: 10.3390/genes11040378

PMCID:: PMC7231145

Abstract Article PDF–3.5M

Select item 586895316.

Characterization of a novel RP2–OSTF1 interaction and its implication for actin remodelling

Rodanthi Lyraki, Mandy Lokaj, Dinesh C. Soares, Abigail Little, Matthieu Vermeren, Joseph A. Marsh, Alfred Wittinghofer, Toby Hurd

J Cell Sci. 2018 Feb 15; 131(4): jcs211748. doi: 10.1242/jcs.211748

PMCID:: PMC5868953

Abstract Article

Select item 539175317.

Pathogenic mutations in retinitis pigmentosa 2 predominantly result in loss of RP2 protein stability in humans and zebrafish

Fei Liu, Yayun Qin, Shanshan Yu, Dinesh C. Soares, Lifang Yang, Jun Weng, Chang Li, Meng Gao, Zhaojing Lu, Xuebin Hu, Xiliang Liu, Tao Jiang, Jing Yu Liu, Xinhua Shu, Zhaohui Tang, Mugen Liu

J Biol Chem. 2017 Apr 14; 292(15): 6225–6239. Published online 2017 Feb 16. doi: 10.1074/jbc.M116.760314

PMCID:: PMC5391753

Abstract Article PDF–4.6M

Select item 506259018.

ARL3 regulates trafficking of prenylated phototransduction proteins to the rod outer segment

Zachary C. Wright, Ratnesh K. Singh, Ryan Alpino, Andrew F.X. Goldberg, Maxim Sokolov, Visvanathan Ramamurthy

Hum Mol Genet. 2016 May 15; 25(10): 2031–2044. Published online 2016 Mar 2. doi: 10.1093/hmg/ddw077

PMCID:: PMC5062590

Abstract Article PDF–1.7M

Select item 472639219.

Panel-based NGS Reveals Novel Pathogenic Mutations in Autosomal Recessive Retinitis Pigmentosa

Raquel Perez-Carro, Marta Corton, Iker Sánchez-Navarro, Olga Zurita, Noelia Sanchez-Bolivar, Rocío Sánchez-Alcudia, Stefan H. Lelieveld, Elena Aller, Miguel Angel Lopez-Martinez, Mª Isabel López-Molina, Patricia Fernandez-San Jose, Fiona Blanco-Kelly, Rosa Riveiro-Alvarez, Christian Gilissen, Jose M Millan, Almudena Avila-Fernandez, Carmen Ayuso

Sci Rep. 2016; 6: 19531. Published online 2016 Jan 25. doi: 10.1038/srep19531

Correction in:: Sci Rep. 2016; 6: 24843.

PMCID:: PMC4726392

Abstract Article PDF–829K

Select item 463531520.

The Interaction of CCDC104/BARTL1 with Arl3 and Implications for Ciliary Function

Mandy Lokaj, Stefanie K. Kösling, Carolin Koerner, Sven M. Lange, Sylvia E.C. van Beersum, Jeroen van Reeuwijk, Ronald Roepman, Nicola Horn, Marius Ueffing, Karsten Boldt, Alfred Wittinghofer

Structure. 2015 Nov 3; 23(11): 2122–2132. doi: 10.1016/j.str.2015.08.016

PMCID:: PMC4635315

Abstract Article

PMC

Result Filters

Article attributes

Text availability

Publication date

Custom date range

Research Funder

Additional filters

Display Settings:

Send to:

Links from Gene

Items: 1 to 20 of 52

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity