Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Leonardo Guasti"'
Autor:
Ana Canton, Flavia Tinano, Leonardo Guasti, Luciana Montenegro, Jesús Argente, Fiona Ryan, Deborah Shears, Maria Edna Melo, Larissa Gomes, Mariana Piana, Raja Brauner, Rafael Spino, Arancha Escribano-Muñoz, Alyssa Paganoni, Marta Korbonits, Ana Krepischi, Silvia Costa, Carlos Eduardo Seraphim, Aline Faria, Berenice Mendonca, Vinicius Brito, Sasha Howard, Ana Claudia Latronico
Publikováno v:
Journal of the Endocrine Society. 6:A643-A644
Methyl-CpG-binding protein 2 (MECP2) is a chromatin-associated protein that can both activate and repress transcription, playing an essential role in neuronal maturation. MECP2 is encoded by an X-linked gene (chromosome Xq28) with high expression in
Autor:
Sasha Howard, Gerard Ruiz-Babot, Leo Dunkel, Claudia P. Cabrera, Leonardo Guasti, Alessandra Mancini, Michael R. Barnes, Tansit Saengkaew
Publikováno v:
Journal of the Endocrine Society
GnRH neuronal biology has been identified as a critical element in the pathogenesis of self-limited DP, previously implicated exclusively in the pathophysiology of idiopathic hypogonadotropic hypogonadism (IHH). We hypothesise that this condition may
Publikováno v:
Journal of the Endocrine Society
The adrenal cortex is a dynamic organ that undergoes self-renewal and remodeling in response to the demand for steroids. In the mouse it is divided into two concentric layers, the outer zona glomerulosa and the inner zona fasciculata (ZF), that secre
Autor:
Avinaash, Maharaj, Federica, Buonocore, Eirini, Meimaridou, Gerard, Ruiz-Babot, Leonardo, Guasti, Hwei-Ming, Peng, Cameron P, Capper, Neikelyn, Burgos-Tirado, Rathi, Prasad, Claire R, Hughes, Ashwini, Maudhoo, Elizabeth, Crowne, Timothy D, Cheetham, Caroline E, Brain, Jenifer P, Suntharalingham, Niccolò, Striglioni, Bilgin, Yuksel, Fatih, Gurbuz, Sangay, Gupta, Robert, Lindsay, Robert, Couch, Helen A, Spoudeas, Tulay, Guran, Stephanie, Johnson, Dallas J, Fowler, Louise S, Conwell, Aideen M, McInerney-Leo, Delphine, Drui, Bertrand, Cariou, Juan P, Lopez-Siguero, Mark, Harris, Emma L, Duncan, Peter C, Hindmarsh, Richard J, Auchus, Malcolm D, Donaldson, John C, Achermann, Louise A, Metherell
Publikováno v:
Journal of the Endocrine Society
Primary adrenal insufficiency (PAI) is a potentially life-threatening condition that can present with nonspecific features and can be difficult to diagnose. We undertook next generation sequencing in a cohort of children and young adults with PAI of