Associated Papers
Advances in understanding the molecular structure of retinoschisin while questions remain of biological function.
Heymann JB et al.
Progress in Retinal and Eye Research, 2023
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
Exome scale map of genetic alterations promoting metastasis in colorectal cancer.
Goryca K et al.
Bmc Genetics, 2018
30231850 (PubMed )
Supplement: 12863_2018_673_MOESM8_ESM.xlsx › df
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
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 juvenile retinoschisis and XLRS 1 gene abnormality].
Nakazawa M
Nippon Ganka Gakkai Zasshi, 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
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