Literature DB >> 10636740

First molecular evidence for a de novo mutation in RS1 (XLRS1) associated with X linked juvenile retinoschisis.

A Gehrig, B H Weber, B Lorenz, M Andrassi.   

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Year:  1999        PMID： 10636740      PMCID： PMC1734280     

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


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  6 in total

Review 1.  X-linked juvenile retinoschisis: clinical diagnosis, genetic analysis, and molecular mechanisms.

Authors:  Robert S Molday; Ulrich Kellner; Bernhard H F Weber
Journal:  Prog Retin Eye Res       Date:  2012-01-03       Impact factor: 21.198

2.  Retinoschisin, a new binding partner for L-type voltage-gated calcium channels in the retina.

Authors:  Liheng Shi; Kuihuan Jian; Michael L Ko; Dorothy Trump; Gladys Y-P Ko
Journal:  J Biol Chem       Date:  2008-12-11       Impact factor: 5.157

3.  Null retinoschisin-protein expression from an RS1 c354del1-ins18 mutation causing progressive and severe XLRS in a cross-sectional family study.

Authors:  Camasamudram Vijayasarathy; Lucia Ziccardi; Yong Zeng; Nizar Smaoui; Rafael C Caruso; Paul A Sieving
Journal:  Invest Ophthalmol Vis Sci       Date:  2009-05-27       Impact factor: 4.799

Review 4.  Circadian regulation of ion channels and their functions.

Authors:  Gladys Y-P Ko; Liheng Shi; Michael L Ko
Journal:  J Neurochem       Date:  2009-06-15       Impact factor: 5.372

5.  Clinical and Genetic Study of X-Linked Juvenile Retinoschisis in the Czech Population.

Authors:  Bohdan Kousal; Lucia Hlavata; Hana Vlaskova; Lenka Dvorakova; Michaela Brichova; Zora Dubska; Hana Langrova; Andrea L Vincent; Lubica Dudakova; Petra Liskova
Journal:  Genes (Basel)       Date:  2021-11-18       Impact factor: 4.096

6.  Truncation of retinoschisin protein associated with a novel splice site mutation in the RS1 gene.

Authors:  Balázs Lesch; Viktória Szabó; Melinda Kánya; Balázs Varsányi; Gábor M Somfai; János Hargitai; Rita Vámos; Orsolya Fiedler; Agnes Farkas
Journal:  Mol Vis       Date:  2008-08-25       Impact factor: 2.367
  6 in total

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