mTOR inhibitors reduce enteropathy, intestinal bleeding and colectomy rate in patients with juvenile polyposis of infancy with PTEN-BMPR1A deletion

Ultra-rare genetic disorders can provide proof of concept for efficacy of targeted therapeutics and reveal pathogenic mechanisms relevant to more common conditions. Juvenile polyposis of infancy (JPI) is caused by microdeletions in chromosome 10 that result in haploinsufficiency of two tumor suppres...

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Detalles Bibliográficos
Autores principales: Taylor, Henry, Yerlioglu, Dilay, Phen, Claudia, Ballauff, Antje, Nedelkopoulou, Natalia, Spier, Isabel, Loverdos, Inés, Busoni, Veronica B, Heise, Jürgen, Dale, Peter, de Meij, Tim, Sweet, Kevin, Cohen, Marta C, Fox, Victor L, Mas, Emmanuel, Aretz, Stefan, Eng, Charis, Buderus, Stephan, Thomson, Mike, Rojas, Isabel, Uhlig, Holm H
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2021
Materias:
General Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8804886/
https://www.ncbi.nlm.nih.gov/pubmed/33822054
http://dx.doi.org/10.1093/hmg/ddab094

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