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

Prader-Willi syndrome (PWS) is caused by a loss of paternally expressed genes in an imprinted region of chromosome 15q. Among the canonical PWS phenotypes are hyperphagic obesity, central hypogonadism, and low growth hormone (GH). Rare microdeletions in PWS patients define a 91-kb minimum critical d...

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Veröffentlicht in:J Clin Invest
Hauptverfasser: 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.
Format: Artigo
Sprache:Inglês
Veröffentlicht: American Society for Clinical Investigation 2016
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Research Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5199710/
https://ncbi.nlm.nih.gov/pubmed/27941249
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI88648
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