Ghrelin uses the GHS-R1a/Gi/cAMP pathway and induces differentiation only in mature osteoblasts. This ghrelin pathway is impaired in AIS patients

per Barre, Ronan, Beton, Nicolas, Batut, Aurélie, Accabled, Frank, Sales de Gauzy, Jerome, Auriol, Françoise, Eddiry, Sanaa, Tauber, Maithe, Laurencin, Sara, Salles, Jean Pierre, Gennero, Isabelle
Publicat a Biochem Biophys Rep (2020)

Highly restricted deletion of the SNORD116 region is implicated in Prader–Willi Syndrome

per Bieth, Eric, Eddiry, Sanaa, Gaston, Véronique, Lorenzini, Françoise, Buffet, Alexandre, Conte Auriol, Françoise, Molinas, Catherine, Cailley, Dorothée, Rooryck, Caroline, Arveiler, Benoit, Cavaillé, Jérome, Salles, Jean Pierre, Tauber, Maïthé
Publicat a Eur J Hum Genet (2015)

Induced pluripotent stem cells (iPSC) created from skin fibroblasts of patients with Prader-Willi Syndrome (PWS) retain the molecular signature of PWS

per Burnett, Lisa C., LeDuc, Charles A., Sulsona, Carlos R., Paull, Daniel, Eddiry, Sanaa, Levy, Brynn, Salles, Jean Pierre, Tauber, Maithe, Driscoll, Daniel J., Egli, Dieter, Leibel, Rudolph L.
Publicat a Stem Cell Res (2016)

Deficiency in prohormone convertase PC1 impairs prohormone processing in Prader-Willi syndrome

per Burnett, Lisa C., LeDuc, Charles A., Sulsona, Carlos R., Paull, Daniel, Rausch, Richard, Eddiry, Sanaa, Carli, Jayne F. Martin, Morabito, Michael V., Skowronski, Alicja A., Hubner, Gabriela, Zimmer, Matthew, Wang, Liheng, Day, Robert, Levy, Brynn, Fennoy, Ilene, Dubern, Beatrice, Poitou, Christine, Clement, Karine, Butler, Merlin G., Rosenbaum, Michael, Salles, Jean Pierre, Tauber, Maithe, Driscoll, Daniel J., Egli, Dieter, Leibel, Rudolph L.
Publicat a J Clin Invest (2016)