Varaico: Literature-Extracted Genetic Variants

Gene:FOXL2
Variant:p.N105S
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FOXL2

NM_023067.4:p.N105S

Associated Papers

Current understanding of the genomic abnormities in premature ovarian failure: chance for early diagnosis and management.

Yang X et al.

Frontiers in Medicine, 2023

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

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

Kim JH et al.

Nature Communications, 2014

Mutational probing of the forkhead domain of the transcription factor FOXL2 provides insights into the pathogenicity of naturally occurring mutations.

Todeschini AL et al.

Human Molecular Genetics, 2011

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

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 › TypeI_

The transcription factor FOXL2 in ovarian function and dysfunction.

De Baere E et al.

Folia Histochemica Et Cytobiologica, 2009

Differential functional effects of novel mutations of the transcription factor FOXL2 in BPES patients.

Nallathambi J et al.

Human Mutation, 2008

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."