Zobrazeno 1 - 10
of 19
pro vyhledávání: '"Bérangère Legois"'
Autor:
Sandrine Caburet, Anne-Laure Todeschini, Cynthia Petrillo, Emmanuelle Martini, Nada D. Farran, Bérangère Legois, Gabriel Livera, Johnny S. Younis, Stavit Shalev, Reiner A. Veitia
Publikováno v:
EBioMedicine, Vol 42, Iss , Pp 524-531 (2019)
Background: Primary Ovarian Insufficiency (POI), a major cause of infertility, affects about 1–3% of women under forty years of age. Although there is a growing list of causal genetic alterations, POI remains mostly idiopathic. Methods: We performe
Externí odkaz:
https://doaj.org/article/c89c6aa10eb94c78b3262f14448ee5de
A homozygous FANCM mutation underlies a familial case of non-syndromic primary ovarian insufficiency
Autor:
Baptiste Fouquet, Patrycja Pawlikowska, Sandrine Caburet, Celine Guigon, Marika Mäkinen, Laura Tanner, Marja Hietala, Kaja Urbanska, Laura Bellutti, Bérangère Legois, Bettina Bessieres, Alain Gougeon, Alexandra Benachi, Gabriel Livera, Filippo Rosselli, Reiner A Veitia, Micheline Misrahi
Publikováno v:
eLife, Vol 6 (2017)
Primary Ovarian Insufficiency (POI) affects ~1% of women under forty. Exome sequencing of two Finnish sisters with non-syndromic POI revealed a homozygous mutation in FANCM, leading to a truncated protein (p.Gln1701*). FANCM is a DNA-damage response
Externí odkaz:
https://doaj.org/article/56f7045340a14393b3106a4985fe8175
A Hot-spot of In-frame Duplications Activates the Oncoprotein AKT1 in Juvenile Granulosa Cell Tumors
Autor:
Laurianne Bessière, Anne-Laure Todeschini, Aurélie Auguste, Sabine Sarnacki, Delphine Flatters, Bérangère Legois, Charles Sultan, Nicolas Kalfa, Louise Galmiche, Reiner A. Veitia
Publikováno v:
EBioMedicine, Vol 2, Iss 5, Pp 421-431 (2015)
Background: Ovarian granulosa cell tumors are the most common sex-cord stromal tumors and have juvenile (JGCTs) and adult forms. In a previous study we reported the occurrence of activating somatic mutations of Gαs, which transduces mitogenic signal
Externí odkaz:
https://doaj.org/article/a225095bd3a44bc18c76d2e708069db7
Autor:
Adrien Georges, David L'Hôte, Anne Laure Todeschini, Aurélie Auguste, Bérangère Legois, Alain Zider, Reiner A Veitia
Publikováno v:
eLife, Vol 3 (2014)
FOXL2 is a lineage determining transcription factor in the ovary, but its direct targets and modes of action are not fully characterized. In this study, we explore the targets of FOXL2 and five nuclear receptors in murine primary follicular cells. We
Externí odkaz:
https://doaj.org/article/dd45f11294ee49e2a492f9ff1cab2512
Publikováno v:
The FASEB Journal. 35
FOXL2 and ESR2 are key transcriptional regulators in ovarian granulosa cells. To explore their transcriptional roles and their interplay, we have depleted Foxl2 and Esr2 in mouse primary granulosa cells to assess their ability to bind their targets a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5d2aabd778c800bb2913c5791a8076d4
https://doi.org/10.1096/fj.202002444r
https://doi.org/10.1096/fj.202002444r
Autor:
Reiner A. Veitia, Bérangère Legois, Paul Laissue, Delphine Flatters, Diana Carolina Sierra-Diaz, Maëva Elzaiat
Publikováno v:
Human Genetics
Human Genetics, Springer Verlag, 2020, 139 (11), pp.1455-1470. ⟨10.1007/s00439-020-02189-5⟩
Human Genetics, 2020, 139 (11), pp.1455-1470. ⟨10.1007/s00439-020-02189-5⟩
Human Genetics, Springer Verlag, 2020, 139 (11), pp.1455-1470. ⟨10.1007/s00439-020-02189-5⟩
Human Genetics, 2020, 139 (11), pp.1455-1470. ⟨10.1007/s00439-020-02189-5⟩
International audience; In humans, pathogenic variants in the DHH gene underlie cases of 46,XY gonadal dysgenesis. DHH is part of the Hedgehog family of proteins, which require extensive processing, including self-cleavage of the precursor for effici
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9bd40203b85ff07a0a7ccaa61d2afce6
https://hal-cnrs.archives-ouvertes.fr/hal-03300420
https://hal-cnrs.archives-ouvertes.fr/hal-03300420
Autor:
Bérangère Legois, Marc Fellous, Ronit Beck Fruchter, Sandrine Caburet, Stavit A. Shalev, Reiner A. Veitia
Publikováno v:
European Journal of Endocrinology. 176:K9-K14
Context PCOS is a heterogeneous condition characterized by hyperandrogenism and chronic anovulation and affects about 10% of women. Its etiology is poorly known, but a dysregulation of gonadotropin secretion is one of its hallmarks. Objective As the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::859728953e79adeab261cd850e875a2d
https://doi.org/10.1530/eje-16-0968
https://doi.org/10.1530/eje-16-0968
Autor:
Reiner A. Veitia, Sandrine Caburet, Johnny S. Younis, Emmanuelle Martini, Anne-Laure Todeschini, Bérangère Legois, Gabriel Livera, Nada D. Farran, Cynthia Petrillo, Stavit A. Shalev
Publikováno v:
EBioMedicine, Vol 42, Iss, Pp 524-531 (2019)
Background: Primary Ovarian Insufficiency (POI), a major cause of infertility, affects about 1–3% of women under forty years of age. Although there is a growing list of causal genetic alterations, POI remains mostly idiopathic. Methods: We performe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::66002f2e67ac7cce10cb9b15dfcd7397
https://europepmc.org/articles/PMC6491878/
https://europepmc.org/articles/PMC6491878/
Autor:
Maëva Elzaiat, Anne-Laure Todeschini, Bérangère Legois, Thibaut Léger, Reiner A. Veitia, Laetitia Herman
Publikováno v:
Mol Cell Proteomics
The PI3K/AKT signaling pathway is known to regulate a broad range of cellular processes, and it is often altered in several types of cancers. Recently, somatic AKT1 mutations leading to a strong activation of this kinase have been reported in juvenil
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e9d2eb52d6e41556c571c813f3ba6fb7
https://pubmed.ncbi.nlm.nih.gov/30992313
https://pubmed.ncbi.nlm.nih.gov/30992313
Autor:
Stavit A. Shalev, Marc Fellous, F. Fauchereau, Reiner A. Veitia, R. Beck-Fruchter, E. Chervinsky, Sandrine Caburet, Bérangère Legois
Publikováno v:
Clinical Genetics. 89:603-607
Primary ovarian insufficiency (POI) results in an early loss of ovarian function, and remains idiopathic in about 80% of cases. Here, we have performed a complete genetic study of a consanguineous family with two POI cases. Linkage analysis and homoz
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::fb025c3c12767f5a96271ac8688d7e8e
https://doi.org/10.1111/cge.12736
https://doi.org/10.1111/cge.12736