Varaico: Literature-Extracted Genetic Variants

Gene:FOXL2
Variant:p.H104N
Back to variants list

FOXL2

NM_023067.4:p.H104N

Associated Papers

Discovery of novel protein partners of the transcription factor FOXL2 provides insights into its physiopathological roles.

L'Hôte D et al.

Human Molecular Genetics, 2012

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

SUMOylation of the Forkhead transcription factor FOXL2 promotes its stabilization/activation through transient recruitment to PML bodies.

Georges A et al.

Plos One, 2011

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

Dipietromaria A et al.

Human Molecular Genetics, 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

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

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."