Associated Papers
Diurnal functional and anatomical changes in X-linked retinoschisis.
Mautone L et al.
Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie, 2023
Predominant Founder Effect among Recurrent Pathogenic Variants for an X-Linked Disorder.
Bender C et al.
Genes, 2022
35456481 (PubMed )
Supplement: genes-13-00675-s001.zip › genes-1649451-supplementary.xlsx › Supplementary_Table_S2
Genetic characteristics and epidemiology of inherited retinal degeneration in Taiwan.
Chen TC et al.
Npj Genomic Medicine, 2021
33608557 (PubMed )
Supplement: 41525_2021_180_MOESM2_ESM.xlsx › ___1
Clinical manifestation and genetic analysis in Chinese early onset X-linked retinoschisis.
Huang L et al.
Molecular Genetics & Genomic Medicine, 2020
Cryo-EM of retinoschisin branched networks suggests an intercellular adhesive scaffold in the retina.
Heymann JB et al.
The Journal of Cell Biology, 2019
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
Molecular modeling of retinoschisin with functional analysis of pathogenic mutations from human X-linked retinoschisis.
Sergeev YV et al.
Human Molecular Genetics, 2010
Genotypic analysis of X-linked retinoschisis in Western Australia.
Lamey T et al.
Advances in Experimental Medicine and Biology, 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
Molecular pathology of X linked retinoschisis: mutations interfere with retinoschisin secretion and oligomerisation.
Wang T et al.
The British Journal of Ophthalmology, 2006
Japanese juvenile retinoschisis is caused by mutations of the XLRS1 gene.
Hotta Y et al.
Human Genetics, 1998
Select a paper to view details