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Aurélie Dipietromaria

Researcher at Centre national de la recherche scientifique

Publications -  12
Citations -  575

Aurélie Dipietromaria is an academic researcher from Centre national de la recherche scientifique. The author has contributed to research in topics: Transcription factor & Promoter. The author has an hindex of 12, co-authored 12 publications receiving 544 citations. Previous affiliations of Aurélie Dipietromaria include Paris Descartes University & French Institute of Health and Medical Research.

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Functional Exploration of the Adult Ovarian Granulosa Cell Tumor-Associated Somatic FOXL2 Mutation p.Cys134Trp (c.402C>G)

TL;DR: This is the first study demonstrating that the p.Cys134Trp mutant does not have a strong impact on FOXL2 localization, solubility, and transactivation abilities on a panel of proven target promoters, behaving neither as a dominant-negative nor as a loss-of-function mutation.
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The identification and characterization of a FOXL2 response element provides insights into the pathogenesis of mutant alleles.

TL;DR: It is shown that polyAlanine expansions of FOXL2, which are the most frequent pathogenic mutations, induce a length-dependent loss of response on different artificial promoter reporters depending on the number and sequence of the FLREs that they contain, providing clear mechanistic evidence explaining how the architecture of promoters influences their sensitivity to decreased transcription factor availability.
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Functional evidence implicating FOXL2 in non-syndromic premature ovarian failure and in the regulation of the transcription factor OSR2

TL;DR: The data provide evidence in favour of the implication ofFOXL2 variants in non-syndromic POF and confirm the regulatory interaction between FOXL2 and OSR2 whose perturbation might contribute to the palpebral abnormalities observed in BPES patients.