Varaico: Literature-Extracted Genetic Variants

Gene:FOXL2
Variant:p.N109K
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FOXL2

NM_023067.4:p.N109K

Associated Papers

Genomic landscape and tumor mutational features of resected preinvasive to invasive lung adenocarcinoma.

Lin Y et al.

Frontiers in Oncology, 2024

38803537 (PubMed )
Supplement: Table_1.xlsx › Table_S3

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

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

Functional exploration of the adult ovarian granulosa cell tumor-associated somatic FOXL2 mutation p.Cys134Trp (c.402C>G).

Benayoun BA et al.

Plos One, 2010

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

Dipietromaria A et al.

Human Molecular Genetics, 2009

Association of reproductive performance with SNPs of FOXL2 gene by SSCP in Japanese flounder (Paralichthys olivaceus).

Shi B et al.

Comparative Biochemistry and Physiology. Part B, Biochemistry & Molecular Biology, 2009

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

FOXL2 mutations and genomic rearrangements in BPES.

Beysen D et al.

Human Mutation, 2009

Missense mutations in the forkhead domain of FOXL2 lead to subcellular mislocalization, protein aggregation and impaired transactivation.

Beysen D et al.

Human Molecular Genetics, 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

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

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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."