Mechanisms Underlying Rare Inherited Pediatric Retinal Vascular Diseases: FEVR, Norrie Disease, Persistent Fetal Vascular Syndrome
出版年份 2023 全文链接
标题
Mechanisms Underlying Rare Inherited Pediatric Retinal Vascular Diseases: FEVR, Norrie Disease, Persistent Fetal Vascular Syndrome
作者
关键词
-
出版物
Cells
Volume 12, Issue 21, Pages 2579
出版商
MDPI AG
发表日期
2023-11-05
DOI
10.3390/cells12212579
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- 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
Publish scientific posters with Peeref
Peeref publishes scientific posters from all research disciplines. Our Diamond Open Access policy means free access to content and no publication fees for authors.
Learn MoreAsk a Question. Answer a Question.
Quickly pose questions to the entire community. Debate answers and get clarity on the most important issues facing researchers.
Get Started