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Select item 80564641.

Noncoding mutation in RPGRIP1 contributes to inherited retinal degenerations

Gang Zou, Tao Zhang, Xuesen Cheng, Austin D. Igelman, Jun Wang, Xinye Qian, Shangyi Fu, Keqing Wang, Robert K. Koenekoop, Gerald A. Fishman, Paul Yang, Yumei Li, Mark E. Pennesi, Rui Chen

Mol Vis. 2021; 27: 95–106. Published online 2021 Mar 18.

PMCID:: PMC8056464

Abstract Article PDF–2.3M

Select item 79225922.

Whole Locus Sequencing Identifies a Prevalent Founder Deep Intronic RPGRIP1 Pathologic Variant in the French Leber Congenital Amaurosis Cohort

Isabelle Perrault, Sylvain Hanein, Xavier Gérard, Nelson Mounguengue, Ryme Bouyakoub, Mohammed Zarhrate, Cécile Fourrage, Fabienne Jabot-Hanin, Béatrice Bocquet, Isabelle Meunier, Xavier Zanlonghi, Josseline Kaplan, Jean-Michel Rozet

Genes (Basel) 2021 Feb; 12(2): 287. Published online 2021 Feb 18. doi: 10.3390/genes12020287

PMCID:: PMC7922592

Abstract Article PDF–1.3M

Select item 58244053.

Identification of a novel RPGRIP1 mutation in an Iranian family with leber congenital amaurosis by exome sequencing

Saber Imani, Jingliang Cheng, Abdolkarim Mobasher‐Jannat, Chunli Wei, Shangyi Fu, Lisha Yang, Khosrow Jadidi, Mohammad Hossein Khosravi, Saman Mohazzab‐Torabi, Marzieh Dehghan Shasaltaneh, Yumei Li, Rui Chen, Junjiang Fu

J Cell Mol Med. 2018 Mar; 22(3): 1733–1742. Published online 2017 Nov 29. doi: 10.1111/jcmm.13454

PMCID:: PMC5824405

Abstract Article PDF–815K

Select item 54710444.

Targeted next generation sequencing identified novel mutations in RPGRIP1 associated with both retinitis pigmentosa and Leber’s congenital amaurosis in unrelated Chinese patients

Hui Huang, Ying Wang, Huishuang Chen, Yanhua Chen, Jing Wu, Pei-Wen Chiang, Ning Fan, Yan Su, Jianlian Deng, Dongna Chen, Yang Li, Xinxin Zhang, Mengxin Zhang, Shengran Liang, Santasree Banerjee, Ming Qi, Xuyang Liu

Oncotarget. 2017 May 23; 8(21): 35176–35183. Published online 2017 Apr 12. doi: 10.18632/oncotarget.17052

PMCID:: PMC5471044

Abstract Article PDF–3.1M

Select item 17693505.

Limited proteolysis differentially modulates the stability and subcellular localization of domains of RPGRIP1 that are distinctly affected by mutations in Leber’s congenital amaurosis

Xinrong Lu, Mallikarjuna Guruju, John Oswald, Paulo A. Ferreira

Hum Mol Genet. Author manuscript; available in PMC 2007 Jan 12.

Published in final edited form as: Hum Mol Genet. 2005 May 15; 14(10): 1327–1340. Published online 2005 Mar 30. doi: 10.1093/hmg/ddi143

PMCID:: PMC1769350

Abstract Article PDF–1.2M

Select item 39341916.

RPGRIP1 and Cone-Rod Dystrophy in Dogs

Tatyana Kuznetsova, Barbara Zangerl, Gustavo Aguirre

Adv Exp Med Biol. Author manuscript; available in PMC 2014 Feb 25.

Published in final edited form as: Adv Exp Med Biol. 2012; 723: 321–328. doi: 10.1007/978-1-4614-0631-0_42

PMCID:: PMC3934191

Article PDF–398K

Select item 34649167.

RPGR-containing protein complexes in syndromic and non-syndromic retinal degeneration due to ciliary dysfunction

Carlos A. Murga-Zamalloa, Anand Swaroop, Hemant Khanna

J Genet. Author manuscript; available in PMC 2012 Oct 5.

Published in final edited form as: J Genet. 2009 Dec; 88(4): 399–407. doi: 10.1007/s12041-009-0061-7

PMCID:: PMC3464916

Abstract Article PDF–1.4M

Select item 30603278.

Evidence for RPGRIP1 gene as risk factor for primary open angle glaucoma

Lorena Fernández-Martínez, Stef Letteboer, Christian Y Mardin, Nicole Weisschuh, Eugen Gramer, Bernhard HF Weber, Bernd Rautenstrauss, Paulo A Ferreira, Friedrich E Kruse, André Reis, Ronald Roepman, Francesca Pasutto

Eur J Hum Genet. 2011 Apr; 19(4): 445–451. Published online 2011 Jan 12. doi: 10.1038/ejhg.2010.217

PMCID:: PMC3060327

Abstract Article PDF–441K

Select item 17693499.

Identification of Novel Murine- and Human-Specific RPGRIP1 Splice Variants with Distinct Expression Profiles and Subcellular Localization

Xinrong Lu, Paulo A. Ferreira

Invest Ophthalmol Vis Sci. Author manuscript; available in PMC 2007 Jan 12.

Published in final edited form as: Invest Ophthalmol Vis Sci. 2005 Jun; 46(6): 1882–1890. doi: 10.1167/iovs.04-1286

PMCID:: PMC1769349

Abstract Article PDF–847K

Select item 173556310.

Evidence of RPGRIP1 gene mutations associated with recessive cone-rod dystrophy

A Hameed, A Abid, A Aziz, M Ismail, S Mehdi, S Khaliq

J Med Genet. 2003 Aug; 40(8): 616–619. doi: 10.1136/jmg.40.8.616

PMCID:: PMC1735563

Summary PDF–214K

Select item 122611111.

Null RPGRIP1 Alleles in Patients with Leber Congenital Amaurosis

Thaddeus P. Dryja, Scott M. Adams, Jonna L. Grimsby, Terri L. McGee, Dong-Hyun Hong, Tiansen Li, Sten Andréasson, Eliot L. Berson

Am J Hum Genet. 2001 May; 68(5): 1295–1298. Published online 2001 Mar 29. doi: 10.1086/320113

PMCID:: PMC1226111

Abstract Article PDF–294K

Select item 438272812.

Leber Congenital Amaurosis Caused by Mutations in RPGRIP1

Tiansen Li

Cold Spring Harb Perspect Med. 2015 Apr; 5(4): a017384. doi: 10.1101/cshperspect.a017384

PMCID:: PMC4382728

Abstract Article PDF–272K

Select item 597856713.

Cell type‐specific regulation of ciliary transition zone assembly in vertebrates

Antonia Wiegering, Renate Dildrop, Lisa Kalfhues, André Spychala, Stefanie Kuschel, Johanna Maria Lier, Thomas Zobel, Stefanie Dahmen, Tristan Leu, Andreas Struchtrup, Flora Legendre, Christine Vesque, Sylvie Schneider‐Maunoury, Sophie Saunier, Ulrich Rüther, Christoph Gerhardt

EMBO J. 2018 May 15; 37(10): e97791. Published online 2018 Apr 12. doi: 10.15252/embj.201797791

PMCID:: PMC5978567

Abstract Article PDF–2.8M

Select item 173594414.

Identification of mutations in the AIPL1, CRB1, GUCY2D, RPE65, and RPGRIP1 genes in patients with juvenile retinitis pigmentosa

J Booij, R Florijn, B ten, W Loves, F Meire, M J van Schooneveld, P T. de Jong, A Bergen

J Med Genet. 2005 Nov; 42(11): e67. doi: 10.1136/jmg.2005.035121

PMCID:: PMC1735944

Summary PDF–101K

Select item 435137815.

Spata7 is a retinal ciliopathy gene critical for correct RPGRIP1 localization and protein trafficking in the retina

Aiden Eblimit, Thanh-Minh T. Nguyen, Yiyun Chen, Julian Esteve-Rudd, Hua Zhong, Stef Letteboer, Jeroen Van Reeuwijk, David L. Simons, Qian Ding, Ka Man Wu, Yumei Li, Sylvia Van Beersum, Yalda Moayedi, Huidan Xu, Patrick Pickard, Keqing Wang, Lin Gan, Samuel M. Wu, David S. Williams, Graeme Mardon, Ronald Roepman, Rui Chen

Hum Mol Genet. 2015 Mar 15; 24(6): 1584–1601. Published online 2014 Nov 14. doi: 10.1093/hmg/ddu573

PMCID:: PMC4351378

Abstract Article PDF–1.7M

Select item 412940116.

Disruption of the Basal Body Protein POC1B Results in Autosomal-Recessive Cone-Rod Dystrophy

Susanne Roosing, Ideke J.C. Lamers, Erik de Vrieze, L. Ingeborgh van den Born, Stanley Lambertus, Heleen H. Arts, POC1B Study Group, Theo A. Peters, Carel B. Hoyng, Hannie Kremer, Lisette Hetterschijt, Stef J.F. Letteboer, Erwin van Wijk, Ronald Roepman, Anneke I. den Hollander, Frans P.M. Cremers

Am J Hum Genet. 2014 Aug 7; 95(2): 131–142. doi: 10.1016/j.ajhg.2014.06.012

PMCID:: PMC4129401

Abstract Article PDF–2.3M

Select item 131791617.

Interaction of nephrocystin-4 and RPGRIP1 is disrupted by nephronophthisis or Leber congenital amaurosis-associated mutations

Ronald Roepman, Stef J. F. Letteboer, Heleen H. Arts, Sylvia E. C. van Beersum, Xinrong Lu, Elmar Krieger, Paulo A. Ferreira, Frans P. M. Cremers

Proc Natl Acad Sci U S A. 2005 Dec 20; 102(51): 18520–18525. Published online 2005 Dec 9. doi: 10.1073/pnas.0505774102

PMCID:: PMC1317916

Abstract Article PDF–650K

Select item 427124218.

The E3 Ubiquitin Ligase Thyroid Hormone Receptor-interacting Protein 12 Targets Pancreas Transcription Factor 1a for Proteasomal Degradation

Naïma Hanoun, Samuel Fritsch, Odile Gayet, Véronique Gigoux, Pierre Cordelier, Nelson Dusetti, Jérôme Torrisani, Marlène Dufresne

J Biol Chem. 2014 Dec 19; 289(51): 35593–35604. Published online 2014 Oct 29. doi: 10.1074/jbc.M114.620104

PMCID:: PMC4271242

Abstract Article PDF–1.6M

Select item 705010319.

AMPK Interactome Reveals New Function in Non-homologous End Joining DNA Repair

Zhen Chen, Chao Wang, Antrix Jain, Mrinal Srivastava, Mengfan Tang, Huimin Zhang, Xu Feng, Litong Nie, Dan Su, Yun Xiong, Sung Yun Jung, Jun Qin, Junjie Chen

Mol Cell Proteomics. 2020 Mar; 19(3): 467–477. Published online 2020 Jan 3. doi: 10.1074/mcp.RA119.001794

PMCID:: PMC7050103

Abstract Article PDF–1.8M

Select item 399653720.

Protein interaction network of alternatively spliced isoforms from brain links genetic risk factors for autism

Roser Corominas, Xinping Yang, Guan Ning Lin, Shuli Kang, Yun Shen, Lila Ghamsari, Martin Broly, Maria Rodriguez, Stanley Tam, Shelly A. Wanamaker, Changyu Fan, Song Yi, Murat Tasan, Irma Lemmens, Xingyan Kuang, Nan Zhao, Dheeraj Malhotra, Jacob J. Michaelson, Vladimir Vacic, Michael A. Calderwood, Frederick P. Roth, Jan Tavernier, Steve Horvath, Kourosh Salehi-Ashtiani, Dmitry Korkin, Jonathan Sebat, David E. Hill, Tong Hao, Marc Vidal, Lilia M. Iakoucheva

Nat Commun. 2014; 5: 3650. Published online 2014 Apr 11. doi: 10.1038/ncomms4650

Correction in:: Nat Commun. 2023; 14: 569.

PMCID:: PMC3996537

Abstract Article PDF–1.9M

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