Literature DB >> 26967979

CTNNB1 mutation associated with familial exudative vitreoretinopathy (FEVR) phenotype.

Maxwell W Dixon1, Maxwell S Stem2, Jane L Schuette3,4, Catherine E Keegan3,4, Cagri G Besirli2.   

Abstract

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Year:  2016        PMID： 26967979     DOI： 10.3109/13816810.2015.1120318

Source DB:  PubMed          Journal:  Ophthalmic Genet        ISSN： 1381-6810            Impact factor:   1.803


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  10 in total

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

Authors:  Xianjun Zhu; Mu Yang; Peiquan Zhao; Shujin Li; Lin Zhang; Lulin Huang; Yi Huang; Ping Fei; Yeming Yang; Shanshan Zhang; Huijuan Xu; Ye Yuan; Xiang Zhang; Xiong Zhu; Shi Ma; Fang Hao; Periasamy Sundaresan; Weiquan Zhu; Zhenglin Yang
Journal:  J Clin Invest       Date:  2021-03-15       Impact factor: 14.808

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

Authors:  Evangelia S Panagiotou; Carla Sanjurjo Soriano; James A Poulter; Emma C Lord; Denisa Dzulova; Hiroyuki Kondo; Atsushi Hiyoshi; Brian Hon-Yin Chung; Yoyo Wing-Yiu Chu; Connie H Y Lai; Mark E Tafoya; Dyah Karjosukarso; Rob W J Collin; Joanne Topping; Louise M Downey; Manir Ali; Chris F Inglehearn; Carmel Toomes
Journal:  Am J Hum Genet       Date:  2017-06-01       Impact factor: 11.025

3.  Molecular genetics and targeted therapy of WNT-related human diseases (Review).

Authors:  Masuko Katoh; Masaru Katoh
Journal:  Int J Mol Med       Date:  2017-07-19       Impact factor: 4.101

4.  Role of NDP- and FZD4-Related Novel Mutations Identified in Patients with FEVR in Norrin/β-Catenin Signaling Pathway.

Authors:  Shuai Han; Junhui Sun; Liwei Yang; Ming Qi
Journal:  Biomed Res Int       Date:  2020-04-27       Impact factor: 3.411

5.  Missense variants in CTNNB1 can be associated with vitreoretinopathy-Seven new cases of CTNNB1-associated neurodevelopmental disorder including a previously unreported retinal phenotype.

Authors:  Linda Z Rossetti; Mir Reza Bekheirnia; Andrea M Lewis; Heather C Mefford; Katie Golden-Grant; Kristina Tarczy-Hornoch; Lauren C Briere; David A Sweetser; Melissa A Walker; Elijah Kravets; David A Stevenson; Georgette Bruenner; Jessica Sebastian; Julia Knapo; Jill A Rosenfeld; Paul C Marcogliese; Michael F Wangler
Journal:  Mol Genet Genomic Med       Date:  2020-12-22       Impact factor: 2.183

6.  Five novel copy number variations detected in patients with familial exudative vitreoretinopathy.

Authors:  Jia Luo; Jing Li; Xiang Zhang; Jia-Kai Li; Hao-Jie Chen; Pei-Quan Zhao; Ping Fei
Journal:  Mol Vis       Date:  2021-11-20       Impact factor: 2.367

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

Authors:  Rachel L Taylor; Carla Sanjuro Soriano; Simon Williams; Denisa Dzulova; Jane Ashworth; Georgina Hall; Theodora Gale; I Christopher Lloyd; Chris F Inglehearn; Carmel Toomes; Sofia Douzgou; Graeme C Black
Journal:  Orphanet J Rare Dis       Date:  2022-03-04       Impact factor: 4.123

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

Authors:  Mu Yang; Shujin Li; Li Huang; Rulian Zhao; Erkuan Dai; Xiaoyan Jiang; Yunqi He; Jinglin Lu; Li Peng; Wenjing Liu; Zhaotian Zhang; Dan Jiang; Yi Zhang; Zhilin Jiang; Yeming Yang; Peiquan Zhao; Xianjun Zhu; Xiaoyan Ding; Zhenglin Yang
Journal:  JCI Insight       Date:  2022-07-22

9.  Mutation spectrum in a cohort with familial exudative vitreoretinopathy.

Authors:  Ning Qu; Wei Li; Dong-Ming Han; Jia-Yu Gao; Zheng-Tao Yang; Li Jiang; Tian-Bin Liu; Yan-Xian Chen; Xiao-Sen Jiang; Liang Zhou; Ji-Hong Wu; Xin Huang
Journal:  Mol Genet Genomic Med       Date:  2022-07-25       Impact factor: 2.473

10.  Modeling ZNF408-Associated FEVR in Zebrafish Results in Abnormal Retinal Vasculature.

Authors:  Dyah W Karjosukarso; Zaheer Ali; Theo A Peters; Jia Qi Cheng Zhang; Anita D M Hoogendoorn; Alejandro Garanto; Erwin van Wijk; Lasse D Jensen; Rob W J Collin
Journal:  Invest Ophthalmol Vis Sci       Date:  2020-02-07       Impact factor: 4.799
  10 in total

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