Varaico: Literature-Extracted Genetic Variants

Gene:FOXL2
Variant:p.Q53*
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FOXL2

NM_023067.4:p.Q53*

Associated Papers

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

The Genetic and Clinical Features of FOXL2-Related Blepharophimosis, Ptosis and Epicanthus Inversus Syndrome.

Méjécase C et al.

Genes, 2021

FOXL2 directs DNA double-strand break repair pathways by differentially interacting with Ku.

Jin H et al.

Nature Communications, 2020

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

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 BA et al.

Human Molecular Genetics, 2009

The transcription factor FOXL2 in ovarian function and dysfunction.

De Baere E et al.

Folia Histochemica Et Cytobiologica, 2009

FOXL2: at the crossroads of female sex determination and ovarian function.

Benayoun BA et al.

Advances in Experimental Medicine and Biology, 2009

The identification and characterization of a FOXL2 response element provides insights into the pathogenesis of mutant alleles.

Benayoun BA et al.

Human Molecular Genetics, 2008

Deletions in the polyAlanine-containing transcription factor FOXL2 lead to intranuclear aggregation.

Moumné L et al.

Human Molecular Genetics, 2005

The human FOXL2 mutation database.

Beysen D et al.

Human Mutation, 2004

FOXL2 and BPES: mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation.

De Baere E et al.

American Journal of Human Genetics, 2003

Mutations in FOXL2 underlying BPES (types 1 and 2) in Colombian families.

Ramírez-Castro JL et al.

American Journal of Medical Genetics, 2002

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