Associated Papers
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 2024
Whole genome sequencing in high-grade cervical intraepithelial neoplasia patients from different ethnic groups in China.
Wang J et al.
Medicine, 2023
Genetic Analysis Algorithm for the Study of Patients with Multiple Congenital Anomalies and Isolated Congenital Heart Disease.
Delea M et al.
Genes, 2022
The Genetics and Biology of FOXL2.
Tucker EJ
Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2022
Clinical and genetic studies of 17 Han Chinese pedigrees and 31 sporadic patients with blepharophimosis-ptosis-epicanthus inversus syndrome.
Wang Y et al.
Molecular Vision, 2022
Functional Studies of Novel FOXL2 Variants in Chinese Families With Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome.
Li F et al.
Frontiers in Genetics, 2021
Genome scale analysis of pathogenic variants targetable for single base editing.
Lavrov AV et al.
Bmc Medical Genomics, 2020
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
Functional study on new FOXL2 mutations found in Chinese patients with blepharophimosis, ptosis, epicanthus inversus syndrome.
Zhou L et al.
Bmc Medical Genetics, 2018
A Novel FOXL2 Mutation Implying Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Type I.
Li F et al.
Cellular Physiology and Biochemistry : International Journal of Experimental Cellular Physiology, Biochemistry, and Pharmacology, 2018
Novel FOXL2 mutations in two Chinese families with blepharophimosis-ptosis-epicanthus inversus syndrome.
Xue M et al.
Bmc Medical Genetics, 2015
Differential apoptotic and proliferative activities of wild-type FOXL2 and blepharophimosis-ptosis-epicanthus inversus syndrome (BPES)-associated mutant FOXL2 proteins.
Kim JH et al.
The Journal of Reproduction and Development, 2014
Mutation spectrum of fork-head transcriptional factor gene (FOXL2) in Indian Blepharophimosis Ptosis Epicanthus Inversus Syndrome (BPES) patients.
Kaur I et al.
The British Journal of Ophthalmology, 2011
Towards a functional classification of pathogenic FOXL2 mutations using transactivation reporter systems.
Dipietromaria A et al.
Human Molecular Genetics, 2009
FOXL2 mutations and genomic rearrangements in BPES.
Beysen D et al.
Human Mutation, 2009
Differential functional effects of novel mutations of the transcription factor FOXL2 in BPES patients.
Nallathambi J et al.
Human Mutation, 2008
FOXL2 mutations in Chinese patients with blepharophimosis-ptosis-epicanthus inversus syndrome.
Wang J et al.
Molecular Vision, 2007
Genetic analysis of a five generation Indian family with BPES: a novel missense mutation (p.Y215C).
Kumar A et al.
Molecular Vision, 2004
[Gene mapping on Blepharophimosis Epicanthus Inversus and Ptosis syndrome type I in Chinese family].
Zhang W et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2001