Literature DB >> 9452120

Two Indian siblings with Oguchi disease are homozygous for an arrestin mutation encoding premature termination.

M Maw1, G Kumaramanickavel, B Kar, S John, R Bridges, M Denton.   

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Year:  1998        PMID： 9452120     DOI： 10.1002/humu.1380110199

Source DB:  PubMed          Journal:  Hum Mutat        ISSN： 1059-7794            Impact factor:   4.878


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  12 in total

Review 1.  Light and inherited retinal degeneration.

Authors:  D M Paskowitz; M M LaVail; J L Duncan
Journal:  Br J Ophthalmol       Date:  2006-05-17       Impact factor: 4.638

2.  Mizuo-Nakamura phenomenon in Oguchi disease due to a homozygous nonsense mutation in the SAG gene.

Authors:  P I Sergouniotis; A E Davidson; K Sehmi; A R Webster; A G Robson; A T Moore
Journal:  Eye (Lond)       Date:  2011-04-15       Impact factor: 3.775

3.  Abnormal photoresponses and light-induced apoptosis in rods lacking rhodopsin kinase.

Authors:  C K Chen; M E Burns; M Spencer; G A Niemi; J Chen; J B Hurley; D A Baylor; M I Simon
Journal:  Proc Natl Acad Sci U S A       Date:  1999-03-30       Impact factor: 11.205

4.  Oguchi disease masked by retinitis pigmentosa.

Authors:  Hiroko Sonoyama; Kei Shinoda; Chie Ishigami; Yumi Tada; Hidenao Ideta; Ryuichi Ideta; Masayo Takahashi; Yozo Miyake
Journal:  Doc Ophthalmol       Date:  2011-09-16       Impact factor: 2.379

5.  A Chinese family with Oguchi's disease due to compound heterozygosity including a novel deletion in the arrestin gene.

Authors:  Lingli Huang; Wen Li; Weilin Tang; Xiaohua Zhu; Pingbo Ou-Yang; Guangxiu Lu
Journal:  Mol Vis       Date:  2012-03-01       Impact factor: 2.367

6.  A nonsense mutation in S-antigen (p.Glu306*) causes Oguchi disease.

Authors:  Nadia K Waheed; Ahmed H Qavi; Sarah N Malik; Maleeha Maria; Moeen Riaz; Frans P M Cremers; Maleeha Azam; Raheel Qamar
Journal:  Mol Vis       Date:  2012-05-12       Impact factor: 2.367

Review 7.  Biology and therapy of inherited retinal degenerative disease: insights from mouse models.

Authors:  Shobi Veleri; Csilla H Lazar; Bo Chang; Paul A Sieving; Eyal Banin; Anand Swaroop
Journal:  Dis Model Mech       Date:  2015-02       Impact factor: 5.758

8.  A non-stop S-antigen gene mutation is associated with late onset hereditary retinal degeneration in dogs.

Authors:  Orly Goldstein; Julie Ann Jordan; Gustavo D Aguirre; Gregory M Acland
Journal:  Mol Vis       Date:  2013-08-27       Impact factor: 2.367

9.  A Homozygote Mutation in S-Antigen Visual Arrestin SAG Gene in an Iranian Patient with Oguchi Type One: A Case Report.

Authors:  Hajar Aryan; Atekeh Bahadori; Dariush D Farhud; Marjan Zarif Yeganeh; Haniyeh Pourkalhor
Journal:  Iran J Public Health       Date:  2020-05       Impact factor: 1.429

10.  Updating the Genetic Landscape of Inherited Retinal Dystrophies.

Authors:  Belén García Bohórquez; Elena Aller; Ana Rodríguez Muñoz; Teresa Jaijo; Gema García García; José M Millán
Journal:  Front Cell Dev Biol       Date:  2021-07-13
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