Zobrazeno 1 - 10
of 12
pro vyhledávání: '"Leonardo Guasti"'
Publikováno v:
Endocrine-related cancer. 28(12)
Delta-like non-canonical Notch ligand 1 (DLK1) is a cleavable single-pass transmembrane protein and a member of the Notch/Delta/Serrate family. It is paternally expressed and belongs to a group of imprinted genes located on chromosome band 14q32 in h
Autor:
Leonardo Guasti, Karoliina Wehkalampi, Ojeda, Howard, Alessia David, Claudia P. Cabrera, Alejandro Lomniczi, Leo Dunkel, Michael R. Barnes, Sabine Heger, Alessandra Mancini
Publikováno v:
Human Molecular Genetics
The initiation of puberty is orchestrated by an augmentation of gonadotropin-releasing hormone (GnRH) secretion from a few thousand hypothalamic neurons. Recent findings have indicated that the neuroendocrine control of puberty may be regulated by a
Autor:
Marie-Isabelle Garcia, Morgane Leprovots, Roberto Oleari, Michael J.E. Sternberg, Alessandra Mancini, Sasha Howard, Anna Cariboni, Leo Dunkel, Gilbert Vassart, Elena Monti, Marco Bonomi, Michael R. Barnes, Claudia P. Cabrera, Alessia David, Antonella Lettieri, Valeria Vezzoli, Karoliina Wehkalampi, Leonardo Guasti, Irene Hadjidemetriou, Federica Marelli
Publikováno v:
JCI Insight
JCI insight, 5 (11
JCI insight, 5 (11
The initiation of puberty is driven by an upsurge in hypothalamic gonadotropin-releasing hormone (GnRH) secretion. In turn, GnRH secretion upsurge depends on the development of a complex GnRH neuroendocrine network during embryonic life. Although del
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::de59d0c211e94faf354d75135ec7aaf3
http://hdl.handle.net/10044/1/80025
http://hdl.handle.net/10044/1/80025
Autor:
Michael R. Barnes, Claudia P. Cabrera, Christiana Ruhrberg, Ariel Poliandri, Gerard Ruiz-Babot, Anna Cariboni, Karoliina Wehkalampi, Alessandro Fantin, Howard, Roberto Oleari, Leonardo Guasti, Chantzara, Louise A. Metherell, Leo Dunkel
Publikováno v:
The Journal of Clinical Endocrinology and Metabolism
Context Self-limited delayed puberty (DP) segregates in an autosomal-dominant pattern, but the genetic basis is largely unknown. Although DP is sometimes seen in relatives of patients with hypogonadotropic hypogonadism (HH), mutations in genes known
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::39d93326676c12436ebfe6fa516f54ee
http://hdl.handle.net/10138/248393
http://hdl.handle.net/10138/248393
Autor:
Sasha R, Howard, Leonardo, Guasti, Ariel, Poliandri, Alessia, David, Claudia P, Cabrera, Michael R, Barnes, Karoliina, Wehkalampi, Stephen, O'Rahilly, Catherine E, Aiken, Anthony P, Coll, Marcella, Ma, Debra, Rimmington, Giles S H, Yeo, Leo, Dunkel
Publikováno v:
The Journal of Clinical Endocrinology and Metabolism
Context: Self-limited delayed puberty (DP) is often associated with a delay in physical maturation, but although highly heritable the causal genetic factors remain elusive. Genome-wide association studies of the timing of puberty have identified mult
Autor:
Anthony P. Coll, Sanger Mouse Genetics, E H Wynn, Li F. Chan, Darren W. Logan, Debra Rimmington, Adrian J. L. Clark, Rachel Larder, Christopher J. Lelliott, P H Tate, Tatiana V. Novoselova, Stephen O'Rahilly, Rebecca J Gorrigan, Leonardo Guasti
Publikováno v:
The Journal of Endocrinology
Melanocortin receptor accessory protein 2 (MRAP2) is a transmembrane accessory protein predominantly expressed in the brain. Both global and brain-specific deletion of Mrap2 in mice results in severe obesity. Loss-of-function MRAP2 mutations have als
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8c03bac2160142b298e44ca6d219c458
Publikováno v:
Endocrinology. 152:4224-4231
Mahogunin ring fnger-1(MGRN1) encodes an E3 ubiquitin ligase and is mutated in the mahoganoid mouse. The mahoganoid mouse mutant shows similarities to the phenotype of another spontaneous mouse mutation known as mahogunin (mutation in attractin) pres
Publikováno v:
Molecular and Cellular Endocrinology. 336:117-122
Sonic hedgehog signaling was recently demonstrated to play an important role in murine adrenal cortex development. The organization of the rat adrenal differs from that of the mouse, with the zona glomerulosa and zona fasciculata separated by an undi
Autor:
Emanuele Cilia, Francesco Furlan, Leonardo Guasti, Daniela Avossa, Laura Ballerini, Annarosa Arcangeli, Andrea Becchetti
Publikováno v:
Neuroscience. 135:1179-1192
During spinal cord maturation neuronal excitability gradually differentiates to meet different functional demands. Spontaneous activity, appearing early during spinal development, is regulated by the expression pattern of ion channels in individual n
Publikováno v:
Molecular and Cellular Endocrinology
Highlights ► The adrenal glands from fgfr2IIIb knock-out mice are hypoplastic. ► Steroidogenic enzymes are reduced in fgfr2IIIb knock-out mice. ► Dlk1, rather than Shh, signalling is affected in the adrenal cortex of fgfr2IIIb knock-out mice.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::af3c8e3be293657c2e8ddec34b670f9d
https://openaccess.sgul.ac.uk/id/eprint/102367/1/1-s2.0-S0303720713000373-main.pdf
https://openaccess.sgul.ac.uk/id/eprint/102367/1/1-s2.0-S0303720713000373-main.pdf