Literature DB >> 18538322

Focus on molecules: RPGRIP1.

Heleen H Arts1, Frans P M Cremers, Nine V A M Knoers, Ronald Roepman.   

Abstract

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Year:  2008        PMID： 18538322     DOI： 10.1016/j.exer.2008.03.019

Source DB:  PubMed          Journal:  Exp Eye Res        ISSN： 0014-4835            Impact factor:   3.467


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  6 in total

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

Authors:  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
Journal:  Eur J Hum Genet       Date:  2011-01-12       Impact factor: 4.246

Review 2.  Leber congenital amaurosis caused by mutations in RPGRIP1.

Authors:  Tiansen Li
Journal:  Cold Spring Harb Perspect Med       Date:  2014-11-20       Impact factor: 6.915

3.  Usher syndrome and Leber congenital amaurosis are molecularly linked via a novel isoform of the centrosomal ninein-like protein.

Authors:  Erwin van Wijk; Ferry F J Kersten; Aileen Kartono; Dorus A Mans; Kim Brandwijk; Stef J F Letteboer; Theo A Peters; Tina Märker; Xiumin Yan; Cor W R J Cremers; Frans P M Cremers; Uwe Wolfrum; Ronald Roepman; Hannie Kremer
Journal:  Hum Mol Genet       Date:  2008-09-30       Impact factor: 6.150

4.  Rpgrip1 is required for rod outer segment development and ciliary protein trafficking in zebrafish.

Authors:  Rakesh K Raghupathy; Xun Zhang; Fei Liu; Reem H Alhasani; Lincoln Biswas; Saeed Akhtar; Luyuan Pan; Cecilia B Moens; Wenchang Li; Mugen Liu; Breandan N Kennedy; Xinhua Shu
Journal:  Sci Rep       Date:  2017-12-04       Impact factor: 4.379

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

Authors:  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
Journal:  J Cell Mol Med       Date:  2017-11-29       Impact factor: 5.310

6.  Retinal structure in Leber's congenital amaurosis caused by RPGRIP1 mutations.

Authors:  Daisuke Miyamichi; Sachiko Nishina; Katsuhiro Hosono; Tadashi Yokoi; Kentaro Kurata; Miho Sato; Yoshihiro Hotta; Noriyuki Azuma
Journal:  Hum Genome Var       Date:  2019-06-27
  6 in total

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