Varaico: Literature-Extracted Genetic Variants

Gene:FOXL2
Variant:p.I84S
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FOXL2

NM_023067.4:p.I84S

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

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

Jin H et al.

Nature Communications, 2020

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

Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Holehouse AS et al.

Plos One, 2015

26659599 (PubMed )
Supplement: pone.0144692.s002.xlsx › suppTable_2.txt

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

FOXL2 posttranslational modifications mediated by GSK3β determine the growth of granulosa cell tumours.

Kim JH et al.

Nature Communications, 2014

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

Benayoun BA et al.

Human Molecular Genetics, 2011

Towards a functional classification of pathogenic FOXL2 mutations using transactivation reporter systems.

Dipietromaria A et al.

Human Molecular Genetics, 2009

Functional evidence implicating FOXL2 in non-syndromic premature ovarian failure and in the regulation of the transcription factor OSR2.

Laissue P et al.

Journal of Medical Genetics, 2009

Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Ryu GM et al.

Nucleic Acids Research, 2009

19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeII-

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

Benayoun BA et al.

Advances in Experimental Medicine and Biology, 2009

Three novel FOXL2 gene mutations in Chinese patients with blepharophimosis-ptosis-epicanthus inversus syndrome.

Or SF et al.

Chinese Medical Journal, 2006

The human FOXL2 mutation database.

Beysen D et al.

Human Mutation, 2004

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."