Familial Exudative Vitreoretinopathy-Related Disease-Causing Genes and Norrin/β-Catenin Signal Pathway: Structure, Function, and Mutation Spectrums

Exome sequencing revealed Notch ligand JAG1 as a novel candidate gene for familial exudative vitreoretinopathy

(2019) Lin Zhang et al.   GENETICS IN MEDICINE

Functional dissection of the N-terminal extracellular domains of Frizzled 6 reveals their roles for receptor localization and Dishevelled recruitment

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Crystal structure of the Frizzled 4 receptor in a ligand-free state

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TSPAN12 Is a Norrin Co-receptor that Amplifies Frizzled4 Ligand Selectivity and Signaling

(2017) Maria B. Lai et al.   Cell Reports

Genotype-Phenotype Characterization of Novel Variants in Six Italian Patients with Familial Exudative Vitreoretinopathy

(2017) Giancarlo Iarossi et al.   Journal of Ophthalmology

Whole Exome Sequencing Analysis Identifies Mutations inLRP5in Indian Families with Familial Exudative Vitreoretinopathy

(2016) Lin Zhang et al.   Genetic Testing and Molecular Biomarkers

Haploinsufficiency ofRCBTB1is associated with Coats disease and familial exudative vitreoretinopathy

(2016) Jeng-Hung Wu et al.   HUMAN MOLECULAR GENETICS

Familial Exudative Vitreoretinopathy With a NovelLRP5Mutation

(2016) Maria Pefkianaki et al.   JOURNAL OF PEDIATRIC OPHTHALMOLOGY & STRABISMUS

A novel missense mutation of NDP in a Chinese family with X-linked familial exudative vitreoretinopathy

(2016) Hong Yan Liu et al.   Journal of the Chinese Medical Association

CTNNB1 mutation associated with familial exudative vitreoretinopathy (FEVR) phenotype

(2016) Maxwell W. Dixon et al.   OPHTHALMIC GENETICS

Mutation spectrum of the FZD-4, TSPAN12 AND ZNF408 genes in Indian FEVR patients

(2016) Ganeswara Rao Musada et al.   BMC Ophthalmology

Structural basis of the Norrin-Frizzled 4 interaction

(2015) Guobo Shen et al.   CELL RESEARCH

Frizzled-4 Variations Associated with Retinopathy and Intrauterine Growth Retardation

(2015) Wendy A. Dailey et al.   OPHTHALMOLOGY

Identification and functional analysis of novel FZD4 mutations in Han Chinese with familial exudative vitreoretinopathy

(2015) Ping Fei et al.   Scientific Reports

Structure and functional properties of Norrin mimic Wnt for signalling with Frizzled4, Lrp5/6, and proteoglycan

(2015) Tao-Hsin Chang et al.   eLife

Novel mutation in TSPAN12 leads to autosomal recessive inheritance of congenital vitreoretinal disease with intra-familial phenotypic variability

(2014) Moran Gal et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Phenotypic Overlap Between Familial Exudative Vitreoretinopathy and Microcephaly, Lymphedema, and Chorioretinal Dysplasia Caused byKIF11Mutations

(2014) Johane M. Robitaille et al.   JAMA Ophthalmology

Structure and function of Norrin in assembly and activation of a Frizzled 4-Lrp5/6 complex

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Familial Exudative Vitreoretinopathy caused by a Homozygous Mutation inTSPAN12in a Cystic Fibrosis Infant

(2013) Marco Savarese et al.   OPHTHALMIC GENETICS

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

(2013) R. W. J. Collin et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Norrin/Frizzled4 Signaling in Retinal Vascular Development and Blood Brain Barrier Plasticity

(2012) Yanshu Wang et al.   CELL

Wnt/β-Catenin Signaling and Disease

(2012) Hans Clevers et al.   CELL

Wnt/ -catenin signaling requires interaction of the Dishevelled DEP domain and C terminus with a discontinuous motif in Frizzled

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Frizzled and LRP5/6 Receptors for Wnt/ -Catenin Signaling

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Mutations in the TSPAN12 Gene in Japanese Patients with Familial Exudative Vitreoretinopathy

(2011) Hiroyuki Kondo et al.   AMERICAN JOURNAL OF OPHTHALMOLOGY

Crystal structures of the extracellular domain of LRP6 and its complex with DKK1

(2011) Zhihong Cheng et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Next-Generation Sequencing of a 40 Mb Linkage Interval Reveals TSPAN12 Mutations in Patients with Familial Exudative Vitreoretinopathy

(2010) Konstantinos Nikopoulos et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in TSPAN12 Cause Autosomal-Dominant Familial Exudative Vitreoretinopathy

(2010) James A. Poulter et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Novel Frizzled-4 Gene Mutations in Chinese Patients With Familial Exudative Vitreoretinopathy

(2010) Li-Yun Jia   ARCHIVES OF OPHTHALMOLOGY

The role of Frizzled-4 mutations in familial exudative vitreoretinopathy and Coats disease

(2010) J. M. Robitaille et al.   BRITISH JOURNAL OF OPHTHALMOLOGY

Novel and recurrent NDP gene mutations in familial cases of Norrie disease and X-linked exudative vitreoretinopathy

(2010) Erika L Pelcastre et al.   CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY

Overview of the mutation spectrum in familial exudative vitreoretinopathy and Norrie disease with identification of 21 novel variants in FZD4, LRP5, and NDP

(2010) Konstantinos Nikopoulos et al.   HUMAN MUTATION

An Essential Role of the Cysteine-rich Domain of FZD4 in Norrin/Wnt Signaling and Familial Exudative Vitreoretinopathy

(2010) Kang Zhang et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Reconstitution of a Frizzled8·Wnt3a·LRP6 Signaling Complex Reveals Multiple Wnt and Dkk1 Binding Sites on LRP6

(2010) Eric Bourhis et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

International Union of Basic and Clinical Pharmacology. LXXX. The Class Frizzled Receptors

(2010) G. Schulte   PHARMACOLOGICAL REVIEWS

LRP5 Is Required for Vascular Development in Deeper Layers of the Retina

(2010) Chun-hong Xia et al.   PLoS One

Clinical Presentation and Genetic Correlation of Patients With Mutations Affecting the FZD4 Gene

(2009) Kimberly A. Drenser   ARCHIVES OF OPHTHALMOLOGY

Eyeing Up New Wnt Pathway Players

(2009) Hans Clevers   CELL

TSPAN12 Regulates Retinal Vascular Development by Promoting Norrin- but Not Wnt-Induced FZD4/β-Catenin Signaling

(2009) Harald J. Junge et al.   CELL

Norrin, Frizzled-4, and Lrp5 Signaling in Endothelial Cells Controls a Genetic Program for Retinal Vascularization

(2009) Xin Ye et al.   CELL

Electrochemical cues regulate assembly of the Frizzled/Dishevelled complex at the plasma membrane during planar epithelial polarization

(2009) Matias Simons et al.   NATURE CELL BIOLOGY

Phenotypic Overlap of Familial Exudative Vitreoretinopathy (FEVR) with Persistent Fetal Vasculature (PFV) Caused byFZD4Mutations in two Distinct Pedigrees

(2009) Johane M. Robitaille et al.   OPHTHALMIC GENETICS

A model for familial exudative vitreoretinopathy caused by LPR5 mutations

(2008) C.-H. Xia et al.   HUMAN MOLECULAR GENETICS