Expanding CEP290 mutational spectrum in ciliopathies

Autor: S. Halldorsson, Elliott H. Sherr, Susana Quijano-Roy, Gaetano Tortorella, Marc D'Hooghe, M. M. De Jong, J. Caldwell, Gian M. Ghiggeri, Josseline Kaplan, Christopher P. Bennett, S. Comu, Vincenzo Leuzzi, Anna Rajab, Mary Kay Koenig, Serap Teber, Barbara Scelsa, G. Marra, S. Kitsiou Tzeli, D. Petkovic, Alex E. Clark, Bruno Dallapiccola, P. Collignon, V. Sabolic Avramovska, Richard J. Leventer, Robert P. Cruse, Sabrina Signorini, Raoul C.M. Hennekam, Nicole I. Wolf, A. M. Laverda, Brunella Mancuso, Clotilde Lagier-Tourenne, Kathrin Ludwig, C. Moco, Ender Karaca, Amy Goldstein, Stefania Bigoni, L. I. Al Gazali, Laila Bastaki, Jean Messer, E. Del Giudice, M. Cazzagon, A. Permunian, C. Ae Kim, Edward Blair, M. Di Giacomo, E. DeMarco, Melissa Lees, Renato Borgatti, Marilena Briguglio, H. Raynes, Renaud Touraine, Andreas Zankl, E. Finsecke, Itxaso Marti, Lorenzo Pinelli, S. Romano, Isabelle Perrault, Jane A. Hurst, Eamonn Sheridan, Kenton R. Holden, T. E. Gallager, P. De Lonlay, M. L. Di Sabato, Marina Michelson, Hülya Kayserili, Terry D. Sanger, Heike Philippi, Patrizia Accorsi, M. Silengo, Miriam Iannicelli, Lorena Travaglini, K. Dias, Gianluca Caridi, Loredana Boccone, J. Johannsdottir, R. De Vescovi, P. Ludvigsson, J. Hahn, Tania Attié-Bitach, Franco Stanzial, Silvia Battaglia, Francesco Brancati, Ghada M. H. Abdel-Salam, William B Dobyns, Enrico Bertini, Daria Riva, F. Benedicenti, Joseph G. Gleeson, Ryan D. Schubert, Roshan Koul, Kalpathy S. Krishnamoorthy, Luigina Spaccini, G. Uziel, Jean-Michel Rozet, M.A. Donati, Marzia Pollazzon, Sophie Audollent, Matloob Azam, Alex Magee, A. Adami, Ignacio Pascual-Castroviejo, Bernard Stuart, Rita Fischetto, Darryl C. De Vivo, Christopher A. Walsh, Asma A. Al-Tawari, Carla Uggetti, Alessandra Ferlini, Atıl Yüksel, Enza Maria Valente, Agnese Suppiej, Faustina Lalatta, Lucio Giordano, Maria Roberta Cilio, Bernard L. Maria, Trudy McKanna, S. Sigaudy, L. Demerleir, Carmelo Salpietro, Henry Sanchez, Bruria Ben-Zeev, A. Pessagno, Elisa Fazzi, J. Milisa, Shubha R. Phadke, D. Greco, Dominika Swistun, Yves Sznajer, B. Rodriguez, Silvana Briuglia, V. Udani, Francesca Faravelli, Maha S. Zaki, S. Bernes, Maria Teresa Divizia, C. Daugherty, David G. Brooks, Clara Barbot, László Sztriha, C. Donahue, Wendy K. Chung, Dean Sarco, Pierangela Castorina, Petter Strømme, Pasquale Parisi, Andreas R. Janecke, Roberta Battini, L. Martorell Sampol, M. Akcakus, Angela Barnicoat, Jerlyn C Tolentino, Dorit Lev, A. Seward, Banu Anlar, Corrado Romano, D. Nicholl, A. Moreira, Alice Abdel-Aleem, Padraic Grattan-Smith, C. G. Woods, Gustavo Maegawa, Alessandro Simonati, Kathryn J. Swoboda, David Viskochil, Luciana Rigoli, R. Van Coster, André Mégarbané

Publikováno v: American Journal of Medical Genetics, Part A, 149(10), 2173-2180. Wiley-Liss Inc.
American journal of medical genetics. Part A, 149A(10), 2173-2180. Wiley-Liss Inc.
International JSRD Study Group 2009, ' Expanding CEP290 mutational spectrumin ciliopathies ', American Journal of Medical Genetics, Part A, vol. 149, no. 10, pp. 2173-2180 . https://doi.org/10.1002/ajmg.a.33025

Ciliopathies are an expanding group of rare conditions characterized by multiorgan involvement, that are caused by mutations in genes encoding for proteins of the primary cilium or its apparatus. Among these genes, CEP290 bears an intriguing allelic

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f64afa39636eb3bd0d703cd79fea0af0
https://doi.org/10.1002/ajmg.a.33025

Serum leptin level is a regulator of bone mass

Autor: Kazumasa Nakao, Shu Takeda, C. Ae Kim, Jocelyne Magré, Gerard Karsenty, William J. Craigen, Ken Ebihara, Yoshihiro Ogawa, Xu Liu, Jacqueline Capeau, Florent Elefteriou, Stephanie M. Ware, J. J. Robert, Charles R Vinson, N. Patano

Publikováno v: Proceedings of the National Academy of Sciences of the United States of America. 101(9)

Leptin is a powerful inhibitor of bone formation in vivo . This antiosteogenic function involves leptin binding to its receptors on ventromedial hypothalamic neurons, the autonomous nervous system and β-adrenergic receptors on osteoblasts. However,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::34def4b3afa3e947685414193f945cb7
https://pubmed.ncbi.nlm.nih.gov/14978271

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