Literature DB >> 12362048

Novel homozygous mutation in the alpha subunit of the rod cGMP gated channel (CNGA1) in two Spanish sibs affected with autosomal recessive retinitis pigmentosa.

E Paloma1, A Martínez-Mir, B García-Sandoval, C Ayuso, L Vilageliu, R Gonzàlez-Duarte, S Balcells.   

Abstract

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Year:  2002        PMID： 12362048      PMCID： PMC1734976          DOI： 10.1136/jmg.39.10.e66

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  13 in total

1.  Mutation of CERKL, a novel human ceramide kinase gene, causes autosomal recessive retinitis pigmentosa (RP26).

Authors:  Miquel Tuson; Gemma Marfany; Roser Gonzàlez-Duarte
Journal:  Am J Hum Genet       Date:  2003-12-16       Impact factor: 11.025

Review 2.  The pharmacology of cyclic nucleotide-gated channels: emerging from the darkness.

Authors:  R Lane Brown; Timothy Strassmaier; James D Brady; Jeffrey W Karpen
Journal:  Curr Pharm Des       Date:  2006       Impact factor: 3.116

3.  Variable expressivity in patients with autosomal recessive retinitis pigmentosa associated with the gene CNGB1.

Authors:  Bojana Radojevic; Kaylie Jones; Martin Klein; Margarita Mauro-Herrera; Ronald Kingsley; David G Birch; Lea D Bennett
Journal:  Ophthalmic Genet       Date:  2020-10-14       Impact factor: 1.803

4.  The efficacy of microarray screening for autosomal recessive retinitis pigmentosa in routine clinical practice.

Authors:  Ramon A C van Huet; Laurence H M Pierrache; Magda A Meester-Smoor; Caroline C W Klaver; L Ingeborgh van den Born; Carel B Hoyng; Ilse J de Wijs; Rob W J Collin; Lies H Hoefsloot; B Jeroen Klevering
Journal:  Mol Vis       Date:  2015-04-28       Impact factor: 2.367

5.  Whole exome analysis identifies frequent CNGA1 mutations in Japanese population with autosomal recessive retinitis pigmentosa.

Authors:  Satoshi Katagiri; Masakazu Akahori; Yuri Sergeev; Kazutoshi Yoshitake; Kazuho Ikeo; Masaaki Furuno; Takaaki Hayashi; Mineo Kondo; Shinji Ueno; Kazushige Tsunoda; Kei Shinoda; Kazuki Kuniyoshi; Yohinori Tsurusaki; Naomichi Matsumoto; Hiroshi Tsuneoka; Takeshi Iwata
Journal:  PLoS One       Date:  2014-09-30       Impact factor: 3.240

6.  Novel compound heterozygous mutations in CNGA1in a Chinese family affected with autosomal recessive retinitis pigmentosa by targeted sequencing.

Authors:  Min Wang; Dekang Gan; Xin Huang; Gezhi Xu
Journal:  BMC Ophthalmol       Date:  2016-07-08       Impact factor: 2.209

Review 7.  Retinal Cyclic Nucleotide-Gated Channels: From Pathophysiology to Therapy.

Authors:  Stylianos Michalakis; Elvir Becirovic; Martin Biel
Journal:  Int J Mol Sci       Date:  2018-03-07       Impact factor: 5.923

8.  Identification of a novel homozygous variant in the CNGA1 gene in a Chinese family with autosomal recessive retinitis pigmentosa.

Authors:  Le Wang; Tongdan Zou; Yongqiong Lin; Ling Li; Peng Zhang; Bo Gong; Jilong Hao; Houbin Zhang
Journal:  Mol Med Rep       Date:  2020-07-10       Impact factor: 2.952

9.  Novel compound heterozygous mutation in the CNGA1 gene underlie autosomal recessive retinitis pigmentosa in a Chinese family.

Authors:  Xin Jin; Ling-Hui Qu; Bao-Ke Hou; Hai-Wei Xu; Xiao-Hong Meng; Chi-Pui Pang; Zheng-Qin Yin
Journal:  Biosci Rep       Date:  2016-01-22       Impact factor: 3.840

10.  A new approach based on targeted pooled DNA sequencing identifies novel mutations in patients with Inherited Retinal Dystrophies.

Authors:  Maitane Ezquerra-Inchausti; Ander Anasagasti; Olatz Barandika; Gonzaga Garay-Aramburu; Marta Galdós; Adolfo López de Munain; Cristina Irigoyen; Javier Ruiz-Ederra
Journal:  Sci Rep       Date:  2018-10-18       Impact factor: 4.379
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