Zobrazeno 1 - 10
of 244
pro vyhledávání: '"Reiner A. Veitia"'
Autor:
Reiner A. Veitia
Publikováno v:
Biomedical Journal, Vol 43, Iss 2, Pp 115-123 (2020)
Premature ovarian insufficiency (POI) is a major cause of female infertility. It is a heterogeneous disease that affects about 1% of women under 40 years of age. POI may be due to abnormal follicle stock formation, increased follicular atresia, impai
Externí odkaz:
https://doaj.org/article/b42355b9f19146538f2f159896392e52
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
Autor:
Floriane Picolo, Anna Grandchamp, Benoît Piégu, Antoine D. Rolland, Reiner A. Veitia, Philippe Monget
Publikováno v:
International Journal of Genomics, Vol 2021 (2021)
Gene dosage is an important issue both in cell and evolutionary biology. Most genes are present in two copies or alleles in diploid eukariotic cells. The most outstanding exception is monoallelic gene expression (MA) that concerns genes localized on
Externí odkaz:
https://doaj.org/article/23e5cca80850499fbf752b7f98716430
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:
Paul Laissue, Besma Lakhal, Magalie Vatin, Frank Batista, Gaëtan Burgio, Eric Mercier, Esther Dos Santos, Christophe Buffat, Diana Carolina Sierra-Diaz, Gilles Renault, Xavier Montagutelli, Jane Salmon, Philippe Monget, Reiner A. Veitia, Céline Méhats, Marc Fellous, Jean-Christophe Gris, Julie Cocquet, Daniel Vaiman
Publikováno v:
Open Biology, Vol 6, Iss 10 (2016)
Recurrent spontaneous abortion (RSA) is a common cause of infertility, but previous attempts at identifying RSA causative genes have been relatively unsuccessful. Such failure to describe RSA aetiological genes might be explained by the fact that rep
Externí odkaz:
https://doaj.org/article/59cbc1af7cea42bd92495a8e90fb08ff
Autor:
James A. Birchler, Reiner A. Veitia
Publikováno v:
Frontiers in Plant Science, Vol 2 (2011)
Externí odkaz:
https://doaj.org/article/f4d85f4a4ef4477b8019b28cbd339165
Autor:
Monica M. Franca, Yazmine B. Condezo, Maëva Elzaiat, Natalia Felipe-Medina, Fernando Sánchez-Sáez, Sergio Muñoz, Raquel Sainz-Urruela, M. Rosario Martín-Hervás, Rodrigo García-Valiente, Manuel A. Sánchez-Martín, Aurora Astudillo, Juan Mendez, Elena Llano, Reiner A. Veitia, Berenice B. Mendonca, Alberto M. Pendás
Publikováno v:
Cell death and differentiation, 29(12), 2347-2361. Nature Publishing Group
Primary ovarian insufficiency (POI) causes female infertility by abolishing normal ovarian function. Although its genetic etiology has been extensively investigated, most POI cases remain unexplained. Using whole-exome sequencing, we identified a hom
Publikováno v:
Clinical Genetics. 103:247-251
Clonal hematopoiesis (CH) consists in an abnormal expansion of a hematopoietic stem cell bearing an advantageous somatic variant. A survey of known recurrent somatic missense variants in DNMT3A, SF3B1, SRSF2, and TP53, some of the most prominent gene
Autor:
Reiner A. Veitia, Alberto M. Pendas, Xose S. Puente, Aurora Astudillo, Sara López-Tamargo, Manuel Sanchez-Martin, Yazmine B. Condezo, María D. Corte-Torres, Natalia Felipe-Medina, Anne Laure Todeschini, Elena Llano
Suppl table 3
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7c209dd67f77f7495efd63ea5fc32c3d
https://doi.org/10.1158/0008-5472.22433439.v1
https://doi.org/10.1158/0008-5472.22433439.v1
Autor:
Reiner A. Veitia, Alberto M. Pendas, Xose S. Puente, Aurora Astudillo, Sara López-Tamargo, Manuel Sanchez-Martin, Yazmine B. Condezo, María D. Corte-Torres, Natalia Felipe-Medina, Anne Laure Todeschini, Elena Llano
Adult-type granulosa cell tumors (AGCT) are the most common type of malignant ovarian sex cord–stromal tumors. Most AGCTs carry the somatic variant c.402C>G (p.C134W) affecting the transcription factor FOXL2. Germline dominant variants in FOXL2 are
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::500a8e805757cb45c07b3291094ac5c5
https://doi.org/10.1158/0008-5472.c.6514368.v1
https://doi.org/10.1158/0008-5472.c.6514368.v1