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Ophthalmic Genetics Volume 37, 2016 - Issue 1
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Letters to the Journal

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

Rui-Feng DuDepartment of Information Management, Hunan University of Finance and Economics, Changsha, China,
,
Hao HuangDepartment of Cell Biology, School of Life Sciences, Central South University, Changsha, China,
,
Liang-Liang FanDepartment of Cell Biology, School of Life Sciences, Central South University, Changsha, China,
,
Xiang-Ping LiDepartment of Cardiology, the Second Xiangya Hospital of Central South University, Changsha, China, and
,
Kun XiaDepartment of Cell Biology, School of Life Sciences, Central South University, Changsha, China, ;State Key Laboratory of Medical Genetics, Central South University, Changsha, ChinaCorrespondence[email protected]
&
Rong XiangDepartment of Cell Biology, School of Life Sciences, Central South University, Changsha, China, ;Department of Cardiology, the Second Xiangya Hospital of Central South University, Changsha, China, and ;State Key Laboratory of Medical Genetics, Central South University, Changsha, ChinaCorrespondence[email protected]
Pages 111-115 | Received 11 Mar 2014, Accepted 05 May 2014, Published online: 10 Jun 2014

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Nancy Hernández-Martínez, Ariadna González-del Angel, Miguel Angel Alcántara-Ortigoza, Luz M. González-Huerta, Sergio A. Cuevas-Covarrubias & Cristina Villanueva-Mendoza. (2018) Molecular characterization of Axenfeld-Rieger spectrum and other anterior segment dysgeneses in a sample of Mexican patients. Ophthalmic Genetics 39:6, pages 728-734.
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Articles from other publishers (10)

Roopam Duvesh, Subbiah Ramasamy Krishnadas & Periasamy Sundaresan. 2022. Genetics of Ocular Diseases. Genetics of Ocular Diseases 41 70 .
Tania Ray, Terry Ryusaki & Partha S. Ray. (2021) Therapeutically Targeting Cancers That Overexpress FOXC1: A Transcriptional Driver of Cell Plasticity, Partial EMT, and Cancer Metastasis. Frontiers in Oncology 11.
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Andrew J. Kump, Manoj Panta, Kristopher R. Schwab, Mark H. Inlow & Shaad M. Ahmad. (2021) The Drosophila Forkhead/Fox transcription factor Jumeau mediates specific cardiac progenitor cell divisions by regulating expression of the kinesin Nebbish. Scientific Reports 11:1.
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Qinxin Zhang, Dong Liang, Yunyun Yue, Luqingqing He, Nan Li, Dongya Jiang, Ping Hu & Qingshun Zhao. (2020) Axenfeld-Rieger syndrome-associated mutants of the transcription factor FOXC1 abnormally regulate NKX2-5 in model zebrafish embryos . Journal of Biological Chemistry 295:33, pages 11902-11913.
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A. S. Ma, J. R. Grigg & R. V. Jamieson. (2018) Phenotype–genotype correlations and emerging pathways in ocular anterior segment dysgenesis. Human Genetics 138:8-9, pages 899-915.
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Warren J. Scherer. (2018) Corneal endothelial cell density and cardiovascular mortality. Clinical Anatomy 31:6, pages 927-936.
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Yunyun Yue, Mingyang Jiang, Luqingqing He, Zhaojunjie Zhang, Qinxin Zhang, Chun Gu, Meijing Liu, Nan Li & Qingshun Zhao. (2018) The transcription factor Foxc1a in zebrafish directly regulates expression of nkx2.5 , encoding a transcriptional regulator of cardiac progenitor cells . Journal of Biological Chemistry 293:2, pages 638-650.
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Athar Khalil, Christiane Al-Haddad, Hadla Hariri, Kamel Shibbani, Fadi Bitar, Mazen Kurban, Georges Nemer & Mariam Arabi. (2017) 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. Frontiers in Cardiovascular Medicine 4.
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Marta Sanchez-Castro, Hadja Eldjouzi, Eric Charpentier, Pierre-François Busson, Quentin Hauet, Pierre Lindenbaum, Béatrice Delasalle-Guyomarch, Adrien Baudry, Olivier Pichon, Cécile Pascal, Bruno Lefort, Fanny Bajolle, Philippe Pezard, Jean-Jacques Schott, Christian Dina, Richard Redon, Véronique Gournay, Damien Bonnet & Cédric Le Caignec. (2016) Search for Rare Copy-Number Variants in Congenital Heart Defects Identifies Novel Candidate Genes and a Potential Role for FOXC1 in Patients With Coarctation of the Aorta. Circulation: Cardiovascular Genetics 9:1, pages 86-94.
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Hong Zhu. (2016) Forkhead box transcription factors in embryonic heart development and congenital heart disease. Life Sciences 144, pages 194-201.
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