Defects in the Cell Signaling Mediator β-Catenin Cause the Retinal Vascular Condition FEVR.

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Exome sequencing study of 20 patients with high myopia

P2860

Q57156449-25AA54BA-29DC-45B3-A265-F1C76EFA64CE

P2860

Defects in the Cell Signaling Mediator β-Catenin Cause the Retinal Vascular Condition FEVR.

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2017 nî lūn-bûn

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2017年学术文章

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Defects in the Cell Signaling ...... tinal Vascular Condition FEVR.

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Defects in the Cell Signaling ...... tinal Vascular Condition FEVR.

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Defects in the Cell Signaling ...... tinal Vascular Condition FEVR.

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label

Defects in the Cell Signaling ...... tinal Vascular Condition FEVR.

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Defects in the Cell Signaling ...... tinal Vascular Condition FEVR.

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Defects in the Cell Signaling ...... tinal Vascular Condition FEVR.

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prefLabel

Defects in the Cell Signaling ...... tinal Vascular Condition FEVR.

@en

Defects in the Cell Signaling ...... tinal Vascular Condition FEVR.

@en-gb

Defects in the Cell Signaling ...... tinal Vascular Condition FEVR.

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P1154

2-s2.0-85020058011

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American Journal of Human Genetics

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Defects in the Cell Signaling ...... tinal Vascular Condition FEVR.

@en

P2093

Atsushi Hiyoshi

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Brian Hon-Yin Chung

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Carla Sanjurjo Soriano

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Chris F Inglehearn

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Connie H Y Lai

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Denisa Dzulova

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Emma C Lord

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Evangelia S Panagiotou

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Hiroyuki Kondo

http://www.w3.org/2001/XMLSchema#string

Joanne Topping

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P2860

ZNF408 is mutated in familial exudative vitreoretinopathy and is crucial for the development of zebrafish retinal vasculature

Moderate reduction of Norrin signaling activity associated with the causative missense mutations identified in patients with familial exudative vitreoretinopathy

Autosomal recessive familial exudative vitreoretinopathy is associated with mutations in LRP5.

Mutant frizzled-4 disrupts retinal angiogenesis in familial exudative vitreoretinopathy

Mutations in LRP5 or FZD4 underlie the common familial exudative vitreoretinopathy locus on chromosome 11q.

Vascular development in the retina and inner ear: control by Norrin and Frizzled-4, a high-affinity ligand-receptor pair

A mutation in the Norrie disease gene (NDP) associated with X-linked familial exudative vitreoretinopathy

The Norrin/Frizzled4 signaling pathway in retinal vascular development and disease

The many faces and functions of β-catenin

Persistent Angiogenesis in the Autism Brain: An Immunocytochemical Study of Postmortem Cortex, Brainstem and Cerebellum.

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960-968

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scholarly article

P356

10.1016/J.AJHG.2017.05.001

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English

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100

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James A Poulter

Carmel Toomes

Dyah Karjosukarso

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2017-06-01T00:00:00Z

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85201267

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28575650

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5473728

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117491