Associated Papers
Genotypic and phenotypic diversity in X-linked retinoschisis: Findings from a South Indian patient cohort.
Chowdhury S et al.
Indian Journal of Ophthalmology, 2024
Cryo-EM of retinoschisin branched networks suggests an intercellular adhesive scaffold in the retina.
Heymann JB et al.
The Journal of Cell Biology, 2019
Pathomechanism of mutated and secreted retinoschisin in X-linked juvenile retinoschisis.
Plössl K et al.
Experimental Eye Research, 2018
Genetic analysis and clinical features of X-linked retinoschisis in Chinese patients.
Hu QR et al.
Scientific Reports, 2017
Retinoschisin Facilitates the Function of L-Type Voltage-Gated Calcium Channels.
Shi L et al.
Frontiers in Cellular Neuroscience, 2017
Structural analysis of X-linked retinoschisis mutations reveals distinct classes which differentially effect retinoschisin function.
Ramsay EP et al.
Human Molecular Genetics, 2016
X-linked juvenile retinoschisis: clinical diagnosis, genetic analysis, and molecular mechanisms.
Molday RS et al.
Progress in Retinal and Eye Research, 2012
Molecular modeling of retinoschisin with functional analysis of pathogenic mutations from human X-linked retinoschisis.
Sergeev YV et al.
Human Molecular Genetics, 2010
Retinoschisin, a new binding partner for L-type voltage-gated calcium channels in the retina.
Shi L et al.
The Journal of Biological Chemistry, 2009
Characterization and purification of the discoidin domain-containing protein retinoschisin and its interaction with galactose.
Dyka FM et al.
Biochemistry, 2008
Coexpression and interaction of wild-type and missense RS1 mutants associated with X-linked retinoschisis: its relevance to gene therapy.
Dyka FM et al.
Investigative Ophthalmology & Visual Science, 2007
Molecular pathology of X linked retinoschisis: mutations interfere with retinoschisin secretion and oligomerisation.
Wang T et al.
The British Journal of Ophthalmology, 2006
X-linked retinoschisis: clinical phenotype and RS1 genotype in 86 UK patients.
Pimenides D et al.
Journal of Medical Genetics, 2005
Intracellular retention of mutant retinoschisin is the pathological mechanism underlying X-linked retinoschisis.
Wang T et al.
Human Molecular Genetics, 2002
[X-linked juvenile retinoschisis and XLRS 1 gene abnormality].
Nakazawa M
Nippon Ganka Gakkai Zasshi, 1999
Mutations of the XLRS1 gene cause abnormalities of photoreceptor as well as inner retinal responses of the ERG.
Bradshaw K et al.
Documenta Ophthalmologica. Advances in Ophthalmology, 1999
Functional implications of the spectrum of mutations found in 234 cases with X-linked juvenile retinoschisis. The Retinoschisis Consortium.
Unknown Author
Human Molecular Genetics, 1998