Novel FOXL2 mutations cause blepharophimosis-ptosis-epicanthus inversus syndrome with premature ovarian insufficiency
Author:
Affiliation:
1. Institute of Reproductive and Stem Cell Engineering; Central South University; Changsha Hunan China
2. Reproductive and Genetic Hospital of Citic-Xiangya; Changsha Hunan China
Funder
National Natural Science Fund of China
Publisher
Wiley
Subject
Genetics(clinical),Genetics,Molecular Biology
Reference25 articles.
1. Isolation and characterization of five Fox (Forkhead) genes from the sponge Suberites domuncula;Adell;Gene,2004
2. Foxl2 gene and the development of the ovary: A story about goat, mouse, fish and woman;Baron;Reproduction Nutrition,2005
3. Potential targets of FOXL2, a transcription factor involved in craniofacial and follicular development, identified by transcriptomics;Batista;Proceedings of the National Academy of Sciences of the United States of America,2007
4. Two families with blepharophimosis/ptosis/epicanthus inversus syndrome have mutations in the putative forkhead transcription factor FOXL2;Bell;Genet Test,2001
5. A. Positive and negative feedback regulates the transcription factor FOXL2 in response to cell stress: Evidence for a regulatory imbalance induced by disease-causing mutations;Benayoun;Human Molecular Genetics,2009
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