Mechanisms Underlying Rare Inherited Pediatric Retinal Vascular Diseases: FEVR, Norrie Disease, Persistent Fetal Vascular Syndrome

Systemic gene therapy rescues retinal dysfunction and hearing loss in a model of Norrie disease

(2023) Valda Pauzuolyte et al.   EMBO Molecular Medicine

Bi-allelic mutation of CTNNB1 causes a severe form of syndromic microphthalmia, persistent foetal vasculature and vitreoretinal dysplasia

(2022) Rachel L. Taylor et al.   Orphanet Journal of Rare Diseases

A Survey of Multigenic Protein-Altering Variant Frequency in Familial Exudative Vitreo-Retinopathy (FEVR) Patients by Targeted Sequencing of Seven FEVR-Linked Genes

(2022) Amanda Petrelli Cicerone et al.   Genes

CTNND1 variants cause familial exudative vitreoretinopathy through the Wnt/cadherin axis

(2022) Mu Yang et al.   JCI Insight

UniProt: the Universal Protein Knowledgebase in 2023

(2022) et al.   NUCLEIC ACIDS RESEARCH

Defective EMC1 drives abnormal retinal angiogenesis via Wnt/β-catenin signaling and may be associated with the pathogenesis of familial exudative vitreoretinopathy

(2022) Shujin Li et al.   Genes and Diseases

Catenin α 1 mutations cause familial exudative vitreoretinopathy by overactivating Norrin/β-catenin signaling

(2021) Xianjun Zhu et al.   JOURNAL OF CLINICAL INVESTIGATION

Highly accurate protein structure prediction with AlphaFold

(2021) John Jumper et al.   NATURE

AlphaFold Protein Structure Database: massively expanding the structural coverage of protein-sequence space with high-accuracy models

(2021) Mihaly Varadi et al.   NUCLEIC ACIDS RESEARCH

A mouse model for Kinesin Family Member 11 (Kif11)-associated familial exudative vitreoretinopathy

(2020) Yanshu Wang et al.   HUMAN MOLECULAR GENETICS

A New Human Blood–Retinal Barrier Model Based on Endothelial Cells, Pericytes, and Astrocytes

(2020) Claudia G. Fresta et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Norrin restores blood-retinal barrier properties after vascular endothelial growth factor-induced permeability

(2020) Mónica Díaz-Coránguez et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Novel truncating mutations in CTNND1 cause a dominant craniofacial and cardiac syndrome

(2020) Reham Alharatani et al.   HUMAN MOLECULAR GENETICS

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

(2019) Hongtao Xiao et al.   Journal of Ophthalmology

OUP accepted manuscript

(2018)   HUMAN MOLECULAR GENETICS

Retinal vasculature development in health and disease

(2018) Senthil Selvam et al.   PROGRESS IN RETINAL AND EYE RESEARCH

Biophysical and functional characterization of Norrin signaling through Frizzled4

(2018) Injin Bang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Endothelial Cell–Specific Inactivation of TSPAN12 (Tetraspanin 12) Reveals Pathological Consequences of Barrier Defects in an Otherwise Intact Vasculature

(2018) Chi Zhang et al.   ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY

Interplay of the Norrin and Wnt7a/Wnt7b signaling systems in blood–brain barrier and blood–retina barrier development and maintenance

(2018) Yanshu Wang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Norrin treatment improves ganglion cell survival in an oxygen-induced retinopathy model of retinal ischemia

(2017) Wendy A. Dailey et al.   EXPERIMENTAL EYE RESEARCH

Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy

(2016) Tamar Harel et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Norrin mediates angiogenic properties via the induction of insulin-like growth factor-1

(2016) Ludwig F. Zeilbeck et al.   EXPERIMENTAL EYE RESEARCH

CTNNB1 mutation associated with familial exudative vitreoretinopathy (FEVR) phenotype

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

Critical Endothelial Regulation by LRP5 during Retinal Vascular Development

(2016) Wei Huang et al.   PLoS One

Identification of novel KIF11 mutations in patients with familial exudative vitreoretinopathy and a phenotypic analysis

(2016) Jia-Kai Li et al.   Scientific Reports

Whole-exome sequencing reveals ZNF408 as a new gene associated with autosomal recessive retinitis pigmentosa with vitreal alterations

(2015) Almudena Avila-Fernandez et al.   HUMAN MOLECULAR GENETICS

α-Catenin–mediated cadherin clustering couples cadherin and actin dynamics

(2015) Chi-Shuo Chen et al.   JOURNAL OF CELL BIOLOGY

Mutations in CTNNA1 cause butterfly-shaped pigment dystrophy and perturbed retinal pigment epithelium integrity

(2015) Nicole T M Saksens et al.   NATURE GENETICS

Frizzled-4 Variations Associated with Retinopathy and Intrauterine Growth Retardation

(2015) Wendy A. Dailey et al.   OPHTHALMOLOGY

Congenital microcephaly and chorioretinopathy due to de novo heterozygousKIF11mutations: Five novel mutations and review of the literature

(2014) Ghayda M. Mirzaa et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

α-catenin acts as a tumour suppressor in E-cadherin-negative basal-like breast cancer by inhibiting NF-κB signalling

(2014) Hai-long Piao et al.   NATURE CELL BIOLOGY

Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR): review of phenotype associated with KIF11 mutations

(2013) Gabriela E Jones et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

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

(2013) J. Ke et al.   GENES & DEVELOPMENT

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 stimulates cell proliferation in the superficial retinal vascular plexus and is pivotal for the recruitment of mural cells

(2012) Jurian Zuercher et al.   HUMAN MOLECULAR GENETICS

An α-E-catenin (CTNNA1) mutation in hereditary diffuse gastric cancer

(2012) Ian J Majewski et al.   JOURNAL OF PATHOLOGY

Norrin: Molecular and functional properties of an angiogenic and neuroprotective growth factor

(2012) Andreas Ohlmann et al.   PROGRESS IN RETINAL AND EYE RESEARCH

Clinical Presentation of Familial Exudative Vitreoretinopathy

(2011) Tushar M. Ranchod et al.   OPHTHALMOLOGY

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

Dynamic and Static Interactions between p120 Catenin and E-Cadherin Regulate the Stability of Cell-Cell Adhesion

(2010) Noboru Ishiyama et al.   CELL

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

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

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

(2010) Xin Ye et al.   TRENDS IN MOLECULAR MEDICINE

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

(2009) Harald J. Junge et al.   CELL