Genetic and Functional Analyses of Two Missense Mutations in the Transcription Factor FOXL2 in Two Chinese Families with Blepharophimosis–Ptosis–Epicanthus Inversus Syndrome-Reference-Cited by-同舟云学术

Genetic and Functional Analyses of Two Missense Mutations in the Transcription Factor FOXL2 in Two Chinese Families with Blepharophimosis–Ptosis–Epicanthus Inversus Syndrome

Published:2018-10 Issue:10 Volume:22 Page:585-592
ISSN:1945-0265
Container-title:Genetic Testing and Molecular Biomarkers
language:en
Short-container-title:Genetic Testing and Molecular Biomarkers

Author:

Li Huiyan¹,Gu Yangshun¹

Affiliation:

1. Department of Ophthalmology, The First Affiliated Hospital, School of Medicine, Zhejiang University, Hangzhou, China.

Publisher

Mary Ann Liebert Inc

Subject

Genetics(clinical),General Medicine

Link

https://www.liebertpub.com/doi/pdf/10.1089/gtmb.2018.0064

Reference25 articles.

1. Potential targets of FOXL2, a transcription factor involved in craniofacial and follicular development, identified by transcriptomics

2. Quantification of protein half-lives in the budding yeast proteome

3. Transcription factor FOXL2 protects granulosa cells from stress and delays cell cycle: role of its regulation by the SIRT1 deacetylase

4. The establishment of a predictive mutational model of the forkhead domain through the analyses of FOXC2 missense mutations identified in patients with hereditary lymphedema with distichiasis

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1. Pathogenic Mechanisms of Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome in a Chinese Family with a Novel Missense FOXL2 Mutation;J BIOL REG HOMEOS AG;2023

2. The Genetic and Clinical Features of FOXL2-Related Blepharophimosis, Ptosis and Epicanthus Inversus Syndrome;Genes;2021-03-04