Aberrant expression of agouti signaling protein (ASIP) as a cause of monogenic severe childhood obesity

Here we report a heterozygous tandem duplication at the ASIP (agouti signaling protein) gene locus causing ubiquitous, ectopic ASIP expression in a female patient with extreme childhood obesity. The mutation places ASIP under control of the ubiquitously active itchy E3 ubiquitin protein ligase promo...

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Detalles Bibliográficos
Autores principales: Kempf, Elena, Landgraf, Kathrin, Stein, Robert, Hanschkow, Martha, Hilbert, Anja, Abou Jamra, Rami, Boczki, Paula, Herberth, Gunda, Kühnapfel, Andreas, Tseng, Yu-Hua, Stäubert, Claudia, Schöneberg, Torsten, Kühnen, Peter, Rayner, N. William, Zeggini, Eleftheria, Kiess, Wieland, Blüher, Matthias, Körner, Antje
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9771800/
https://www.ncbi.nlm.nih.gov/pubmed/36536132
http://dx.doi.org/10.1038/s42255-022-00703-9

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