Literature DB >> 24914578

A Novel Mutation of FOXC1 (R127L) in an Axenfeld-Rieger Syndrome Family with Glaucoma and Multiple Congenital Heart Diseases.

Rui-Feng Du1, Hao Huang2, Liang-Liang Fan2, Xiang-Ping Li3, Kun Xia2,4, Rong Xiang2,3,4.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2014        PMID： 24914578     DOI： 10.3109/13816810.2014.924016

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


× No keyword cloud information.
  14 in total

1.  A Chinese family with Axenfeld-Rieger syndrome: report of the clinical and genetic findings.

Authors:  Da-Peng Sun; Yun-Hai Dai; Xiao-Jing Pan; Tao Shan; Dian-Qiang Wang; Peng Chen
Journal:  Int J Ophthalmol       Date:  2017-06-18       Impact factor: 1.779

2.  Axenfeld-Rieger syndrome-associated mutants of the transcription factor FOXC1 abnormally regulate NKX2-5 in model zebrafish embryos.

Authors:  Qinxin Zhang; Dong Liang; Yunyun Yue; Luqingqing He; Nan Li; Dongya Jiang; Ping Hu; Qingshun Zhao
Journal:  J Biol Chem       Date:  2020-07-06       Impact factor: 5.157

3.  The transcription factor Foxc1a in zebrafish directly regulates expression of nkx2.5, encoding a transcriptional regulator of cardiac progenitor cells.

Authors:  Yunyun Yue; Mingyang Jiang; Luqingqing He; Zhaojunjie Zhang; Qinxin Zhang; Chun Gu; Meijing Liu; Nan Li; Qingshun Zhao
Journal:  J Biol Chem       Date:  2017-11-21       Impact factor: 5.157

Review 4.  Primary congenital and developmental glaucomas.

Authors:  Carly J Lewis; Adam Hedberg-Buenz; Adam P DeLuca; Edwin M Stone; Wallace L M Alward; John H Fingert
Journal:  Hum Mol Genet       Date:  2017-08-01       Impact factor: 6.150

Review 5.  Childhood glaucoma genes and phenotypes: Focus on FOXC1 mutations causing anterior segment dysgenesis and hearing loss.

Authors:  Angela C Gauthier; Janey L Wiggs
Journal:  Exp Eye Res       Date:  2019-12-11       Impact factor: 3.467

6.  Phenotype expansion of heterozygous FOXC1 pathogenic variants toward involvement of congenital anomalies of the kidneys and urinary tract (CAKUT).

Authors:  Chen-Han Wilfred Wu; Nina Mann; Makiko Nakayama; Dervla M Connaughton; Rufeng Dai; Caroline M Kolvenbach; Franziska Kause; Isabel Ottlewski; Chunyan Wang; Verena Klämbt; Steve Seltzsam; Ethan W Lai; Aravind Selvin; Prabha Senguttuva; Olaf Bodamer; Deborah R Stein; Sherif El Desoky; Jameela A Kari; Velibor Tasic; Stuart B Bauer; Shirlee Shril; Friedhelm Hildebrandt
Journal:  Genet Med       Date:  2020-06-01       Impact factor: 8.822

7.  The rare Axenfeld-Rieger syndrome with systemic anomalies: A case report and brief review of literature.

Authors:  Wei Song; Xiaodan Hu
Journal:  Medicine (Baltimore)       Date:  2017-08       Impact factor: 1.889

8.  Novel FOXC2 Mutation in Hereditary Distichiasis Impairs DNA-Binding Activity and Transcriptional Activation.

Authors:  Leilei Zhang; Jie He; Bing Han; Linna Lu; Jiayan Fan; He Zhang; Shengfang Ge; Yixiong Zhou; Renbing Jia; Xianqun Fan
Journal:  Int J Biol Sci       Date:  2016-08-06       Impact factor: 6.580

9.  A Novel Mutation in FOXC1 in a Lebanese Family with Congenital Heart Disease and Anterior Segment Dysgenesis: Potential Roles for NFATC1 and DPT in the Phenotypic Variations.

Authors:  Athar Khalil; Christiane Al-Haddad; Hadla Hariri; Kamel Shibbani; Fadi Bitar; Mazen Kurban; Georges Nemer; Mariam Arabi
Journal:  Front Cardiovasc Med       Date:  2017-09-20

10.  The diagnosis and phacoemulsification in combination with intraocular lens implantation for an Axenfeld-Rieger syndrome patient with small cornea: a case report.

Authors:  Yajuan Ma; Xingdi Wu; Shuang Ni; Xiang Chen; Suhong He; Wen Xu
Journal:  BMC Ophthalmol       Date:  2020-04-15       Impact factor: 2.209
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.