An unusual X-linked retinoschisis phenotype and biochemical characterization of the W112C RS1 mutation (Q80049409)

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28 December 2019

title

An unusual X-linked retinoschisis phenotype and biochemical characterization of the W112C RS1 mutation (English)

1 reference

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28 December 2019

main subject

X-linked retinoschisis

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Alessandro Iannaccone

1

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28 December 2019

Marco Mura

2

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28 December 2019

author name string

Frank M Dyka

3

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28 December 2019

Maria Laura Ciccarelli

4

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28 December 2019

Beverly M Yashar

5

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28 December 2019

Radha Ayyagari

6

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28 December 2019

Monica M Jablonski

7

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28 December 2019

Robert S Molday

8

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28 December 2019

publication date

1 August 2006

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28 December 2019

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28 December 2019

volume

46

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28 December 2019

issue

22

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28 December 2019

page(s)

3845-3852

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Mizuo phenomenon in X-linked retinoschisis. Pathogenesis of the Mizuo phenomenon

28 December 2019

cites work

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Phenotypic expression of juvenile X-linked retinoschisis in Swedish families with different mutations in the XLRS1 gene

7 January 2021

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Effects of pathological mutations on the stability of a conserved amino acid triad in retinoschisin

7 January 2021

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X linked retinoschisis

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Clinical features in affected males with X-linked retinoschisis

7 January 2021

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Genotypic and phenotypic spectrum of X-linked retinoschisis in Australia

7 January 2021

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X-linked retinoschisis with point mutations in the XLRS1 gene

7 January 2021

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X-linked congenital retinoschisis

7 January 2021

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Analysis of photoreceptor function and inner retinal activity in juvenile X-linked retinoschisis

7 January 2021

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Primate Retinal Signaling Pathways: Suppressing ON-Pathway Activity in Monkey With Glutamate Analogues Mimics Human CSNB1-NYX Genetic Night Blindness

7 January 2021

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Electroretinographic abnormalities in parents of patients with Leber congenital amaurosis who have heterozygous GUCY2D mutations

7 January 2021

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A Colombian family with X-linked juvenile retinoschisis with three affected females finding of a frameshift mutation

7 January 2021

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Autosomal-dominant retinitis pigmentosa associated with an Arg-135-Trp point mutation of the rhodopsin gene. Clinical features and longitudinal observations

7 January 2021

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The mouse X-linked juvenile retinoschisis cDNA: expression in photoreceptors

7 January 2021

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Retinoschisin, a photoreceptor-secreted protein, and its interaction with bipolar and muller cells

7 January 2021

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Glial transcytosis of a photoreceptor-secreted signaling protein, retinoschisin

7 January 2021

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Functional Implications of the Spectrum of Mutations Found in 234 Cases With X-linked Juvenile Retinoschisis (XLRS)

7 January 2021

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Three novel mutations in the X-linked juvenile retinoschisis (XLRS1) gene in 6 Japanese patients, 1 of whom had Turner's syndrome

7 January 2021

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Positional cloning of the gene associated with X-linked juvenile retinoschisis

7 January 2021

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Clinical characteristics of 14 japanese patients with X-linked juvenile retinoschisis associated with XLRS1 mutation

7 January 2021

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On- and off-responses of the photopic electroretinograms in X-linked juvenile retinoschisis

7 January 2021

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Push-pull model of the primate photopic electroretinogram: a role for hyperpolarizing neurons in shaping the b-wave

7 January 2021

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Clinical features of X linked juvenile retinoschisis associated with new mutations in the XLRS1 gene in Italian families

7 January 2021

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A retinal neuronal developmental wave of retinoschisin expression begins in ganglion cells during layer formation

7 January 2021

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Electroretinographic findings in three family members with X-linked juvenile retinoschisis associated with a novel Pro192Thr mutation of the XLRS1 gene

7 January 2021

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Two Japanese patients with mutations in the XLRS1 gene

7 January 2021

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Intracellular retention of mutant retinoschisin is the pathological mechanism underlying X-linked retinoschisis

7 January 2021

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Molecular pathology of X linked retinoschisis: mutations interfere with retinoschisin secretion and oligomerisation

7 January 2021

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Inactivation of the murine X-linked juvenile retinoschisis gene, Rs1h, suggests a role of retinoschisin in retinal cell layer organization and synaptic structure

7 January 2021

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Defective Discoidin Domain Structure, Subunit Assembly, and Endoplasmic Reticulum Processing of Retinoschisin are Primary Mechanisms Responsible for X-linked Retinoschisis

7 January 2021

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RS1, a discoidin domain-containing retinal cell adhesion protein associated with X-linked retinoschisis, exists as a novel disulfide-linked octamer.

7 January 2021

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X-chromosome-linked juvenile retinoschisis: clinical aspects and genetics

7 January 2021

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inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1016/J.VISRES.2006.06.011

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16884758%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

1 reference