Molecular modeling of retinoschisin with functional analysis of pathogenic mutations from human X-linked retinoschisis.
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The dynamic architecture of photoreceptor ribbon synapses: cytoskeletal, extracellular matrix, and intramembrane proteinsMolecular modeling indicates distinct classes of missense variants with mild and severe XLRS phenotypesIn silico Mapping of Protein Unfolding Mutations for Inherited DiseaseStructural analysis of X-linked retinoschisis mutations reveals distinct classes which differentially effect retinoschisin function.Homeostatic Plasticity Mediated by Rod-Cone Gap Junction Coupling in Retinal Degenerative Dystrophic RCS Rats.Test-Retest Intervisit Variability of Functional and Structural Parameters in X-Linked RetinoschisisMolecular mechanisms leading to null-protein product from retinoschisin (RS1) signal-sequence mutants in X-linked retinoschisis (XLRS) disease.Tyrosinase is the modifier of retinoschisis in mice.A novel deletion mutation in RS1 gene caused X-linked juvenile retinoschisis in a Chinese family.X-linked retinoschisis: RS1 mutation severity and age affect the ERG phenotype in a cohort of 68 affected male subjects.Cog-Wheel Octameric Structure of RS1, the Discoidin Domain Containing Retinal Protein Associated with X-Linked RetinoschisisX-linked juvenile retinoschisis: clinical diagnosis, genetic analysis, and molecular mechanisms.Detailed Morphological Changes of Foveoschisis in Patient with X-Linked Retinoschisis Detected by SD-OCT and Adaptive Optics Fundus Camera.Biology of retinoschisinX-Linked Retinoschisis: Phenotypic Variability in a Chinese Family.Paired octamer rings of retinoschisin suggest a junctional model for cell-cell adhesion in the retinaAn ex vivo gene therapy approach in X-linked retinoschisis.Convergence of Human Genetics and Animal Studies: Gene Therapy for X-Linked Retinoschisis.Frequent hypomorphic alleles account for a significant fraction of ABCA4 disease and distinguish it from age-related macular degeneration.Phenotypic expression of X-linked retinoschisis in Chinese families with mutations in the RS1 gene.Assessing the correlation between mutant rhodopsin stability and the severity of retinitis pigmentosaAnalysis of Anatomic and Functional Measures in X-Linked Retinoschisis.Understanding variable disease severity in X-linked retinoschisis: Does RS1 secretory mechanism determine disease severity?Multimodal imaging in a pedigree of X-linked Retinoschisis with a novel RS1 variant
P2860
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P2860
Molecular modeling of retinoschisin with functional analysis of pathogenic mutations from human X-linked retinoschisis.
description
2010 nî lūn-bûn
@nan
2010 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի հունվարին հրատարակված գիտական հոդված
@hy
2010年の論文
@ja
2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
@zh-tw
2010年论文
@wuu
name
Molecular modeling of retinosc ...... human X-linked retinoschisis.
@ast
Molecular modeling of retinosc ...... human X-linked retinoschisis.
@en
type
label
Molecular modeling of retinosc ...... human X-linked retinoschisis.
@ast
Molecular modeling of retinosc ...... human X-linked retinoschisis.
@en
prefLabel
Molecular modeling of retinosc ...... human X-linked retinoschisis.
@ast
Molecular modeling of retinosc ...... human X-linked retinoschisis.
@en
P2093
P2860
P356
P1476
Molecular modeling of retinosc ...... human X-linked retinoschisis.
@en
P2093
I M MacDonald
M R Meltzer
P A Sieving
R C Caruso
Y V Sergeev
P2860
P304
P356
10.1093/HMG/DDQ006
P577
2010-01-08T00:00:00Z