Literature DB >> 28251098

Digenic heterozygous mutations in EYS/LRP5 in a Chinese family with retinitis pigmentosa.

Feng-Juan Gao1, Sheng-Hai Zhang2, Jun-Yi Chen1, Ge-Zhi Xu2, Ji-Hong Wu2.   

Abstract

Entities:  

Year:  2017        PMID： 28251098      PMCID： PMC5313562          DOI： 10.18240/ijo.2017.02.25

Source DB:  PubMed          Journal:  Int J Ophthalmol        ISSN： 2222-3959            Impact factor:   1.779


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  15 in total

1.  LDL-receptor-related proteins in Wnt signal transduction.

Authors:  K Tamai; M Semenov; Y Kato; R Spokony; C Liu; Y Katsuyama; F Hess; J P Saint-Jeannet; X He
Journal:  Nature       Date:  2000-09-28       Impact factor: 49.962

2.  Clinical and genetic identification of a large chinese family with autosomal dominant retinitis pigmentosa.

Authors:  Yezhen Yang; Di Tian; Janet Lee; Jing Zeng; Huiming Zhang; Siying Chen; Hui Guo; Zhiming Xiong; Kun Xia; Zhengmao Hu; Jing Luo
Journal:  Ophthalmic Genet       Date:  2013-07-08       Impact factor: 1.803

3.  Rates of decline in regions of the visual field defined by frequency-domain optical coherence tomography in patients with RPGR-mediated X-linked retinitis pigmentosa.

Authors:  David G Birch; Kirsten G Locke; Joost Felius; Martin Klein; Dianna K H Wheaton; Dennis R Hoffman; Donald C Hood
Journal:  Ophthalmology       Date:  2014-12-31       Impact factor: 12.079

Review 4.  Photoreceptor degeneration: genetic and mechanistic dissection of a complex trait.

Authors:  Alan F Wright; Christina F Chakarova; Mai M Abd El-Aziz; Shomi S Bhattacharya
Journal:  Nat Rev Genet       Date:  2010-04       Impact factor: 53.242

5.  Experience with targeted next generation sequencing for the care of lung cancer: insights into promises and limitations of genomic oncology in day-to-day practice.

Authors:  Deepa Rangachari; Paul A VanderLaan; Xiuning Le; Erik Folch; Michael S Kent; Sidharta P Gangadharan; Adnan Majid; Richard L Haspel; Loren J Joseph; Mark S Huberman; Daniel B Costa
Journal:  Cancer Treat Commun       Date:  2015

6.  Two novel mutations in the EYS gene are possible major causes of autosomal recessive retinitis pigmentosa in the Japanese population.

Authors:  Katsuhiro Hosono; Chie Ishigami; Masayo Takahashi; Dong Ho Park; Yasuhiko Hirami; Hiroshi Nakanishi; Shinji Ueno; Tadashi Yokoi; Akiko Hikoya; Taichi Fujita; Yang Zhao; Sachiko Nishina; Jae Pil Shin; In Taek Kim; Shuichi Yamamoto; Noriyuki Azuma; Hiroko Terasaki; Miho Sato; Mineo Kondo; Shinsei Minoshima; Yoshihiro Hotta
Journal:  PLoS One       Date:  2012-02-17       Impact factor: 3.240

7.  Whole-exome sequencing identifies OR2W3 mutation as a cause of autosomal dominant retinitis pigmentosa.

Authors:  Xiangyu Ma; Liping Guan; Wei Wu; Yao Zhang; Wei Zheng; Yu-Tang Gao; Jirong Long; Na Wu; Long Wu; Ying Xiang; Bin Xu; Miaozhong Shen; Yanhua Chen; Yuewen Wang; Ye Yin; Yingrui Li; Haiwei Xu; Xun Xu; Yafei Li
Journal:  Sci Rep       Date:  2015-03-18       Impact factor: 4.379

8.  Targeted next-generation sequencing reveals novel EYS mutations in Chinese families with autosomal recessive retinitis pigmentosa.

Authors:  Xue Chen; Xiaoxing Liu; Xunlun Sheng; Xiang Gao; Xiumei Zhang; Zili Li; Huiping Li; Yani Liu; Weining Rong; Kanxing Zhao; Chen Zhao
Journal:  Sci Rep       Date:  2015-03-10       Impact factor: 4.379

9.  EYS, encoding an ortholog of Drosophila spacemaker, is mutated in autosomal recessive retinitis pigmentosa.

Authors:  Mai M Abd El-Aziz; Isabel Barragan; Ciara A O'Driscoll; Leo Goodstadt; Elena Prigmore; Salud Borrego; Marcela Mena; Juan I Pieras; Mohamed F El-Ashry; Leen Abu Safieh; Amna Shah; Michael E Cheetham; Nigel P Carter; Christina Chakarova; Chris P Ponting; Shomi S Bhattacharya; Guillermo Antinolo
Journal:  Nat Genet       Date:  2008-10-05       Impact factor: 38.330

10.  Histopathological comparison of eyes from patients with autosomal recessive retinitis pigmentosa caused by novel EYS mutations.

Authors:  Vera L Bonilha; Mary E Rayborn; Brent A Bell; Meghan J Marino; Gayle J Pauer; Craig D Beight; John Chiang; Elias I Traboulsi; Joe G Hollyfield; Stephanie A Hagstrom
Journal:  Graefes Arch Clin Exp Ophthalmol       Date:  2014-12-11       Impact factor: 3.117
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  1 in total

1.  Aggregated Genomic Data as Cohort-Specific Allelic Frequencies can Boost Variants and Genes Prioritization in Non-Solved Cases of Inherited Retinal Dystrophies.

Authors:  Ionut-Florin Iancu; Irene Perea-Romero; Gonzalo Núñez-Moreno; Lorena de la Fuente; Raquel Romero; Almudena Ávila-Fernandez; María José Trujillo-Tiebas; Rosa Riveiro-Álvarez; Berta Almoguera; Inmaculada Martín-Mérida; Marta Del Pozo-Valero; Alejandra Damián-Verde; Marta Cortón; Carmen Ayuso; Pablo Minguez
Journal:  Int J Mol Sci       Date:  2022-07-29       Impact factor: 6.208
  1 in total

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