Zobrazeno 1 - 10
of 23
pro vyhledávání: '"María Inés Pérez Millán"'
Publikováno v:
eLife, Vol 5 (2016)
Mutations in PROP1 are the most common cause of hypopituitarism in humans; therefore, unraveling its mechanism of action is highly relevant from a therapeutic perspective. Our current understanding of the role of PROP1 in the pituitary gland is limit
Externí odkaz:
https://doaj.org/article/18d52934b6f241839d7c1ab7475c4ae7
Autor:
Lorenzo Erra, Ignacio Uriarte, Ana Colado, María Virginia Paolini, Gisela Seminario, Julieta Belén Fernández, Lorena Tau, Juliana Bernatowiez, Ileana Moreira, Sebastián Vishnopolska, Martín Rumbo, Chiara Cassarino, Gustavo Vijoditz, Ana Laura López, Renata Curciarello, Diego Rodríguez, Gastón Rizzo, Malena Ferreyra, Leila Romina Ferreyra Mufarregue, María Noel Badano, María Inés Pérez Millán, María Florencia Quiroga, Patricia Baré, Itatí Ibañez, Roberto Pozner, Mercedes Borge, Guillermo Docena, Liliana Bezrodnik, María Belén Almejun
Patients with inborn errors of immunity (IEI) in Argentina were encouraged to receive licensed Sputnik, AstraZeneca, Sinopharm, Moderna, and Pfizer vaccines, even though most of the data of humoral and cellular responses combination on available vacc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dc97378488158d95c0e0fac332d33acd
https://doi.org/10.21203/rs.3.rs-1887005/v1
https://doi.org/10.21203/rs.3.rs-1887005/v1
Autor:
Sebastián Alexis Vishnopolska, Ariel José Berenstein, María Gabriela Ropelato, María Inés Pérez Millán, Ana Keselman, Horacio M. Domené, Sally A. Camper, Nora Sanguineti, María Gabriela Ballerini, Ignacio Bergadá, Hector Jasper, Rodolfo Rey, Paula Scaglia, Debora Braslavsky, Sofia Suco
Publikováno v:
CONICET Digital (CONICET)
Consejo Nacional de Investigaciones Científicas y Técnicas
instacron:CONICET
Growth Horm IGF Res
Consejo Nacional de Investigaciones Científicas y Técnicas
instacron:CONICET
Growth Horm IGF Res
Objective: to describe the marked variability in clinical and biochemical patterns that are associated with a p.R209H GH1 missense variant in a large Argentinean pedigree, which makes the diagnosis of GHD elusive. Design: We describe a non-consanguin
Autor:
Thierry Brue, Jacob O. Kitzman, Frédérique Albarel, Cathy Smith, Julian Martinez Mayer, Hironori Bando, Peter Gergics, Mariam Maksutova, Debora Braslavsky, Julia Hoppmann, Sebastián Alexis Vishnopolska, Rami Abou Jamra, Qianyi Ma, Ignacio Bergadá, Berenice B. Mendonca, Frederic Castinetti, Sally A. Camper, Qing Fang, Marilena Nakaguma, Alexander A. L. Jorge, María Inés Pérez Millán, Ivo J.P. Arnhold, Michael H. Guo, Ana Keselman, Anne Barlier, Luciani R. Carvalho, A. Bilge Ozel, Roland Pfaeffle, Sajini Jayakody, Denise Rockstroh-Lippold, Andrew Dauber, Jun Li, Alexandru Saveanu, Marcelo A. Martí
Publikováno v:
American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2021, 108 (8), pp.1526-1539. ⟨10.1016/j.ajhg.2021.06.013⟩
Am J Hum Genet
American Journal of Human Genetics, Elsevier (Cell Press), 2021, 108 (8), pp.1526-1539. ⟨10.1016/j.ajhg.2021.06.013⟩
Am J Hum Genet
International audience; Pituitary hormone deficiency occurs in ∼1:4,000 live births. Approximately 3% of the cases are due to mutations in the alpha isoform of POU1F1, a pituitary-specific transcriptional activator. We found four separate heterozyg
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1e3a2583e4d44ed020745730261e348e
https://hal-amu.archives-ouvertes.fr/hal-03293410/document
https://hal-amu.archives-ouvertes.fr/hal-03293410/document
Autor:
Cristian R. Calandra, German Biagioli, Federico A. Olivieri, María Inés Pérez Millán, Sebastián Alexis Vishnopolska, Marcelo A. Martí, Guadalupe Buda, Luis A. Miquelini, Jaen Natalia Oliveri, Alejandro Pellene
Publikováno v:
Parkinsonism & Related Disorders. 73:52-54
The eye-of-the-tiger (EOT) is a neuroradiologic sign observed on T2-weighted sequences that refers to a central high signal intensity in the anteromedial aspect of both globus pallidus (GP) and a surrounding low signal intensity due to excess iron de
Autor:
Jacob O. Kitzman, Frederic Castinetti, Andrew Dauber, Julia Hoppmann, Ana Keselman, I J P Arnhold, Luciani R. Carvalho, Alexandru Saveanu, Denise Rockstroh-Lippold, Rami Abou Jamra, Jun Li, Alexander A. L. Jorge, Anne Barlier, Qing Fang, Sebastián Alexis Vishnopolska, Cathy Smith, Debora Braslavsky, Ignacio Bergadá, A. Bilge Ozel, Hironori Bando, Thierry Brue, Sally A. Camper, Frédérique Albarel, Peter Gergics, Julian Martinez Mayer, Marilena Nakaguma, María Inés Pérez Millán, Qianyi Ma, Roland Pfaeffle, Marcelo A. Martí, Berenice B. Mendonca, Mariam Maksutova, Michael H. Guo
Pituitary hormone deficiency occurs in ∼1:4,000 live births. Approximately 3% of the cases are due to mutations in the alpha isoform of POU1F1, a pituitary-specific transcriptional activator. We found four separate heterozygous missense variants in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::902e1f4c3904140e4d8b2e8f7b772631
https://doi.org/10.1101/2021.02.04.21249469
https://doi.org/10.1101/2021.02.04.21249469
The pituitary gland is an organ with a low rate of cell turnover. While differentiated hormone-producing cells can re-enter the cell cycle, most of these cells are not dividing. There is some evidence that the pituitary can undergo limited regenerati
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d932323717a1f87181f1634de97c25d9
https://doi.org/10.1016/b978-0-12-819801-8.00003-x
https://doi.org/10.1016/b978-0-12-819801-8.00003-x
Autor:
Ana Aranda, Denise D. Belsham, Véronique Bozon, Maria Luisa Brandi, Giulia Brigante, Gilles Bruneau, Sally A. Camper, Livio Casarini, Juan M. Castellano, Leonard Y.M. Cheung, Luisella Cianferotti, Frédérique Clément, Lique M. Coolen, Pascale Crépieux, Prasad Dalvi, Lily Q. Dong, Shereen Ezzat, Tatiana Fiordelisio, Robert C. Fowkes, Laurine Gagniac, Nathalie Gallay, Zu-hua Gao, Peter D. Gluckman, Karen Gomez-Hernandez, Robert L. Goodman, Florian Guillou, Jason T. Hadley, Mark A. Hanson, Aylin C. Hanyaloglu, Tomohiro Ishii, Jo Ann Janovick, Frédéric Jean-Alphonse, José Nicolás Jiménez, Constanza Contreras Jurado, Nancy Kaddour, Michael N. Lehman, Jun-Li Liu, Zhenqi Liu, Neruja Loganathan, Felicia M. Low, Olaia Martínez-Iglesias, Craig A. McArdle, Emma K. Mcilwraith, Moises Mercado, Francesco De Pascali, Lucie P. Pellissier, María Inés Pérez Millán, Hanna Pincas, Anne Poupon, Pauline Raynaud, Eric Reiter, Elvira Rodríguez-Vázquez, Cecilia Romagnoli, Frederique Ruf-Zamojski, Lidia Ruiz-Llorente, Jiyoon Ryu, Daniele Santi, Stuart C. Sealfon, Manuela Simoni, Shifa Tahir, Toru Tateno, Manuel Tena-Sempere, Nimbe Torres, Armando R. Tovar, Andy Tran, Krasimira Tsaneva-Atanasova, Judith L. Turgeon, Alfredo Ulloa-Aguirre, Ariana Vargas-Castillo, Jean-Pierre Vilardaga, Margaritis Voliotis, Alex D. White, Viktoria Xega, Romain Yvinec, Teresa Zariñán
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::376618ce6a4e0872577653638c8979e0
https://doi.org/10.1016/b978-0-12-819801-8.09992-0
https://doi.org/10.1016/b978-0-12-819801-8.09992-0
Autor:
Jacob O. Kitzman, Sally A. Camper, Ignacio Bergadá, María Inés Pérez Millán, Pablo Ramirez, Juan Pablo Nicola, Mirta Miras, Marta Ciaccio, Maria Isabel Di Palma, Ana Keselman, Amanda H. Mortensen, Sebastián Alexis Vishnopolska, Marcelo A. Martí, Alicia Belgorosky, Perez Garrido Natalia, Debora Braslavsky, Roxana Marino
Publikováno v:
Journal of the Endocrine Society
Combined pituitary hormone deficiency (CPHD) is an important clinical problem caused by mutations in more than 30 different genes. Six genes in the Sonic Hedgehog (SHH) signalling pathway are reported to cause CPHD. SHH signaling is essential to indu
Publikováno v:
Journal of Translational Genetics and Genomics.