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Select item 108906391.

RP1 Dominant p.Ser740* Pathogenic Variant in 20 Knowingly Unrelated Families Affected by Rod–Cone Dystrophy: Potential Founder Effect in Western Sicily

Fabiana D’Esposito, Viviana Randazzo, Maria Igea Vega, Gabriella Esposito, Paolo Enrico Maltese, Salvatore Torregrossa, Paola Scibetta, Florinda Listì, Caterina Gagliano, Lucia Scalia, Antonino Pioppo, Antonio Marino, Marco Piergentili, Emanuele Malvone, Tiziana Fioretti, Angela Vitrano, Maria Piccione, Teresio Avitabile, Francesco Salvatore, Matteo Bertelli, Ciro Costagliola, Maria Francesca Cordeiro, Aurelio Maggio, Elena D’Alcamo

Medicina (Kaunas) 2024 Feb; 60(2): 254. Published online 2024 Feb 1. doi: 10.3390/medicina60020254

PMCID:: PMC10890639

Abstract Article PDF–834K

Select item 82389962.

In Silico identification of a common mobile element insertion in exon 4 of RP1

Dongju Won, Joo-Yeon Hwang, Yeeun Shim, Suk Ho Byeon, Junwon Lee, Christopher Seungkyu Lee, Min Kim, Hyun Taek Lim, Jong Rak Choi, Seung-Tae Lee, Jinu Han

Sci Rep. 2021; 11: 13381. Published online 2021 Jun 28. doi: 10.1038/s41598-021-92834-4

PMCID:: PMC8238996

Abstract Article PDF–2.2M

Select item 69945763.

Retinitis Pigmentosa Due to Rp1 Biallelic Variants

Rita Sousa Silva, Mariana Vallim Salles, Fabiana Louise Motta, Juliana Maria Ferraz Sallum

Sci Rep. 2020; 10: 1603. Published online 2020 Jan 31. doi: 10.1038/s41598-020-58243-9

PMCID:: PMC6994576

Abstract Article PDF–1.4M

Select item 65990234.

A frequent variant in the Japanese population determines quasi-Mendelian inheritance of rare retinal ciliopathy

Konstantinos Nikopoulos, Katarina Cisarova, Mathieu Quinodoz, Hanna Koskiniemi-Kuendig, Noriko Miyake, Pietro Farinelli, Atta Ur Rehman, Muhammad Imran Khan, Andrea Prunotto, Masato Akiyama, Yoichiro Kamatani, Chikashi Terao, Fuyuki Miya, Yasuhiro Ikeda, Shinji Ueno, Nobuo Fuse, Akira Murakami, Yuko Wada, Hiroko Terasaki, Koh-Hei Sonoda, Tatsuro Ishibashi, Michiaki Kubo, Frans P. M. Cremers, Zoltán Kutalik, Naomichi Matsumoto, Koji M. Nishiguchi, Toru Nakazawa, Carlo Rivolta

Nat Commun. 2019; 10: 2884. Published online 2019 Jun 28. doi: 10.1038/s41467-019-10746-4

PMCID:: PMC6599023

Abstract Article PDF–688K

Select item 51121185.

Molecular basis for photoreceptor outer segment architecture

Andrew F. X. Goldberg, Orson L. Moritz, David S. Williams

Prog Retin Eye Res. Author manuscript; available in PMC 2017 Nov 1.

Published in final edited form as: Prog Retin Eye Res. 2016 Nov; 55: 52–81. Published online 2016 Jun 1. doi: 10.1016/j.preteyeres.2016.05.003

PMCID:: PMC5112118

Abstract Article PDF–2.8M

Select item 49010546.

Loss of function mutations in RP1 are responsible for retinitis pigmentosa in consanguineous familial cases

Firoz Kabir, Inayat Ullah, Shahbaz Ali, Alexander D.H. Gottsch, Muhammad Asif Naeem, Muhammad Zaman Assir, Shaheen N. Khan, Javed Akram, Sheikh Riazuddin, Radha Ayyagari, J. Fielding Hejtmancik, S. Amer Riazuddin

Mol Vis. 2016; 22: 610–625. Published online 2016 Jun 10.

PMCID:: PMC4901054

Abstract Article PDF–4.6M

Select item 43073887.

Targeted Next Generation Sequencing Identifies Novel Mutations in RP1 as a Relatively Common Cause of Autosomal Recessive Rod-Cone Dystrophy

Said El Shamieh, Elise Boulanger-Scemama, Marie-Elise Lancelot, Aline Antonio, Vanessa Démontant, Christel Condroyer, Mélanie Letexier, Jean-Paul Saraiva, Saddek Mohand-Saïd, José-Alain Sahel, Isabelle Audo, Christina Zeitz

Biomed Res Int. 2015; 2015: 485624. Published online 2015 Jan 6. doi: 10.1155/2015/485624

PMCID:: PMC4307388

Abstract Article PDF–1.2M

Select item 37010758.

RP1 Is a Phosphorylation Target of CK2 and Is Involved in Cell Adhesion

Frank Stenner, Heike Liewen, Stephan Göttig, Reinhard Henschler, Norbert Markuly, Sascha Kleber, Michael Faust, Axel Mischo, Stefan Bauer, Martin Zweifel, Alexander Knuth, Christoph Renner, Andreas Wadle

PLoS One. 2013; 8(7): e67595. Published online 2013 Jul 3. doi: 10.1371/journal.pone.0067595

PMCID:: PMC3701075

Abstract Article PDF–1.4M

Select item 34729259.

Identification of a novel nonsense mutation in RP1 that causes autosomal recessive retinitis pigmentosa in an Indonesian family

Anna M. Siemiatkowska, Galuh D.N. Astuti, Kentar Arimadyo, Anneke I. den Hollander, Sultana M.H. Faradz, Frans P.M. Cremers, Rob W.J. Collin

Mol Vis. 2012; 18: 2411–2419. Published online 2012 Oct 3.

PMCID:: PMC3472925

Abstract Article PDF–1.7M

Select item 290564010.

Differential pattern of RP1 mutations in retinitis pigmentosa

Xin Zhang, Li Jia Chen, Jonathan P. Law, Timothy Y.Y. Lai, Sylvia W.Y. Chiang, Pancy O.S. Tam, Kwan Yi Chu, Ningli Wang, Mingzhi Zhang, Chi Pui Pang

Mol Vis. 2010; 16: 1353–1360. Published online 2010 Jul 15.

PMCID:: PMC2905640

Abstract Article PDF–1.7M

Select item 258238011.

Mutations in a novel retina-specific gene cause autosomal dominant retinitis pigmentosa

Lori S. Sullivan, John R. Heckenlively, Sara J. Bowne, Jian Zuo, Winston A. Hide, Andreas Gal, Michael Denton, Chris F. Inglehearn, Susan H. Blanton, Stephen P. Daiger

Nat Genet. Author manuscript; available in PMC 2008 Nov 12.

Published in final edited form as: Nat Genet. 1999 Jul; 22(3): 255–259. doi: 10.1038/10314

PMCID:: PMC2582380

Abstract Article PDF–1008K

Select item 173606312.

Novel association of RP1 gene mutations with autosomal recessive retinitis pigmentosa

S Khaliq, A Abid, M Ismail, A Hameed, A Mohyuddin, P Lall, A Aziz, K Anwar, S Mehdi

J Med Genet. 2005 May; 42(5): 436–438. doi: 10.1136/jmg.2004.024281

PMCID:: PMC1736063

Summary PDF–78K

Select item 730569113.

Clinical heterogeneity in retinitis pigmentosa caused by variants in RP1 and RLBP1 in five extended consanguineous pedigrees

Muawyah Al-Bdour, Svenja Pauleck, Zain Dardas, Raghda Barham, Dema Ali, Sami Amr, Lina Mustafa, Mohammed Abu-Ameerh, Ranad Maswadi, Belal Azab, Abdalla Awidi

Mol Vis. 2020; 26: 445–458. Published online 2020 Jun 19.

PMCID:: PMC7305691

Abstract Article PDF–1.7M

Select item 427149114.

Novel RP1 mutations and a recurrent BBS1 variant explain the co-existence of two distinct retinal phenotypes in the same pedigree

Cristina Méndez-Vidal, Nereida Bravo-Gil, María González-del Pozo, Alicia Vela-Boza, Joaquín Dopazo, Salud Borrego, Guillermo Antiñolo

BMC Genet. 2014; 15: 143. Published online 2014 Dec 14. doi: 10.1186/s12863-014-0143-2

PMCID:: PMC4271491

Abstract Article PDF–1.0M

Select item 418886215.

A Murine Rp1 Missense Mutation Causes Protein Mislocalization and Slowly Progressive Photoreceptor Degeneration

Delu Song, Steve Grieco, Yafeng Li, Allan Hunter, Sally Chu, Liangliang Zhao, Ying Song, Robert A. DeAngelis, Lan-Ying Shi, Qin Liu, Eric A. Pierce, Patsy M. Nishina, John D. Lambris, Joshua L. Dunaief

Am J Pathol. 2014 Oct; 184(10): 2721–2729. doi: 10.1016/j.ajpath.2014.06.010

PMCID:: PMC4188862

Abstract Article PDF–2.6M

Select item 342411916.

Expression of Wild-Type Rp1 Protein in Rp1 Knock-in Mice Rescues the Retinal Degeneration Phenotype

Qin Liu, Rob W. J. Collin, Frans P. M. Cremers, Anneke I. den Hollander, L. Ingeborgh van den Born, Eric A. Pierce

PLoS One. 2012; 7(8): e43251. Published online 2012 Aug 21. doi: 10.1371/journal.pone.0043251

PMCID:: PMC3424119

Abstract Article PDF–7.3M

Select item 346259717.

Microarray-based mutation detection and phenotypic characterization in Korean patients with retinitis pigmentosa

Cinoo Kim, Kwang Joong Kim, Jeong Bok, Eun-Ju Lee, Dong-Joon Kim, Ji Hee Oh, Sung Pyo Park, Joo Young Shin, Jong-Young Lee, Hyeong Gon Yu

Mol Vis. 2012; 18: 2398–2410. Published online 2012 Sep 25.

PMCID:: PMC3462597

Abstract Article PDF–985K

Select item 472639218.

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 242673219.

Retinitis pigmentosa: mutation analysis of RHO, PRPF31, RP1, and IMPDH1 genes in patients from India

Mamatha Gandra, Venkataramana Anandula, Vidhya Authiappan, Srilekha Sundaramurthy, Rajiv Raman, Shomi Bhattacharya, Kumaramanickavel Govindasamy

Mol Vis. 2008; 14: 1105–1113. Published online 2008 Jun 14.

PMCID:: PMC2426732

Abstract Article PDF–2.0M

Select item 196348820.

Identification and Subcellular Localization of the RP1 Protein in Human and Mouse Photoreceptors

Qin Liu, Jie Zhou, Stephen P. Daiger, Debora B. Farber, John R. Heckenlively, Julie E. Smith, Lori S. Sullivan, Jian Zuo, Ann H. Milam, Eric A. Pierce

Invest Ophthalmol Vis Sci. Author manuscript; available in PMC 2007 Sep 4.

Published in final edited form as: Invest Ophthalmol Vis Sci. 2002 Jan; 43(1): 22–32.

PMCID:: PMC1963488

Abstract Article PDF–1.5M

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