Zobrazeno 1 - 10
of 62
pro vyhledávání: '"Anne-laure Todeschini"'
Autor:
Hager barakizou, Gannouni Souha, Thouraya Kamoun, Muhammed Mehdi, Fernanda Amary, Zilla Huma, Anne-laure Todeschini, Reiner Veitia, Malcolm Donaldson
Publikováno v:
JCRPE, Vol 14, Iss 1, Pp 107-113 (2022)
Ovarian causes of precocious pseudo-puberty (PPP) include McCune-Albright syndrome (MAS) and juvenile granulosa cell tumour (JGCT). We describe a case of PPP in which bilateral ovarian enlargement with multiple cysts progressed to unilateral JGCT. A
Externí odkaz:
https://doaj.org/article/4316d518cba84646ad07adaa5729732a
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 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:
Thibaut Josse, Laure Teysset, Anne-Laure Todeschini, Clara M Sidor, Dominique Anxolabéhère, Stéphane Ronsseray
Publikováno v:
PLoS Genetics, Vol 3, Iss 9, Pp 1633-1643 (2007)
The study of P-element repression in Drosophila melanogaster led to the discovery of the telomeric Trans-Silencing Effect (TSE), a repression mechanism by which a transposon or a transgene inserted in subtelomeric heterochromatin (Telomeric Associate
Externí odkaz:
https://doaj.org/article/77a538e919f343999f4e5f5cd858a10f
Autor:
Denis Basquin, Anne Spierer, Flora Begeot, Dmitry E Koryakov, Anne-Laure Todeschini, Stéphane Ronsseray, Cristina Vieira, Pierre Spierer, Marion Delattre
Publikováno v:
PLoS ONE, Vol 9, Iss 5, p e96802 (2014)
Heterochromatin is made of repetitive sequences, mainly transposable elements (TEs), the regulation of which is critical for genome stability. We have analyzed the role of the heterochromatin-associated Su(var)3-7 protein in Drosophila ovaries. We pr
Externí odkaz:
https://doaj.org/article/e28c8e51dfde4127a722527f98b367f8
Autor:
Adrien Georges, Bérénice A Benayoun, Mara Marongiu, Aurélie Dipietromaria, David L'Hôte, Anne-Laure Todeschini, Jana Auer, Laura Crisponi, Reiner A Veitia
Publikováno v:
PLoS ONE, Vol 6, Iss 10, p e25463 (2011)
BACKGROUND: FOXL2 is a transcription factor essential for ovarian development and maintenance. It is mutated in the genetic condition called Blepharophimosis Ptosis Epicantus inversus Syndrome (BPES) and in cases of isolated premature ovarian failure
Externí odkaz:
https://doaj.org/article/1b3eb1220c2e47c3aba4b5db7819ae43
Publikováno v:
PLoS ONE, Vol 5, Iss 6, p e11032 (2010)
BackgroundThe study of P transposable element repression in Drosophila melanogaster led to the discovery of the Trans-Silencing Effect (TSE), a homology-dependent repression mechanism by which a P-transgene inserted in subtelomeric heterochromatin (T
Externí odkaz:
https://doaj.org/article/fa75b7c5714340a781fd87871722f6e0
Autor:
Bérénice A Benayoun, Sandrine Caburet, Aurélie Dipietromaria, Adrien Georges, Barbara D'Haene, P J Eswari Pandaranayaka, David L'Hôte, Anne-Laure Todeschini, Sankaran Krishnaswamy, Marc Fellous, Elfride De Baere, Reiner A Veitia
Publikováno v:
PLoS ONE, Vol 5, Iss 1, p e8789 (2010)
BackgroundThe somatic mutation in the FOXL2 gene c.402C>G (p.Cys134Trp) has recently been identified in the vast majority of adult ovarian granulosa cell tumors (OGCTs) studied. In addition, this mutation seems to be specific to adult OGCTs and is li
Externí odkaz:
https://doaj.org/article/a9ad7ce6b18146d99665cfccbcd63a62
Autor:
Thibaut Josse, Corinne Maurel-Zaffran, Augustin de Vanssay, Laure Teysset, Anne-Laure Todeschini, Valerie Delmarre, Nicole Chaminade, Dominique Anxolabéhère, Stéphane Ronsseray
Publikováno v:
PLoS ONE, Vol 3, Iss 9, p e3249 (2008)
The study of P element repression in Drosophila melanogaster led to the discovery of the telomeric Trans-Silencing Effect (TSE), a homology-dependent repression mechanism by which a P-transgene inserted in subtelomeric heterochromatin (Telomeric Asso
Externí odkaz:
https://doaj.org/article/a826de75cba24d77b64a4712a82af8f6
Autor:
Natalia Felipe-Medina, Sandrine Caburet, Fernando Sánchez-Sáez, Yazmine B Condezo, Dirk G de Rooij, Laura Gómez-H, Rodrigo Garcia-Valiente, Anne Laure Todeschini, Paloma Duque, Manuel Adolfo Sánchez-Martin, Stavit A Shalev, Elena Llano, Reiner A Veitia, Alberto M Pendás
Publikováno v:
eLife, Vol 9 (2020)
Primary Ovarian Insufficiency (POI) is a major cause of infertility, but its etiology remains poorly understood. Using whole-exome sequencing in a family with three cases of POI, we identified the candidate missense variant S167L in HSF2BP, an essent
Externí odkaz:
https://doaj.org/article/26db10f852a84974ae97f713af8a613d