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mTOR inhibitors reduce enteropathy, intestinal bleeding and colectomy rate in patients with juvenile polyposis of infancy with PTEN-BMPR1A deletion / Taylor, Henry (Imperial College London) ; Yerlioglu, Dilay (Istanbul University) ; Phen, Claudia (University of Texas Southwestern Medical Center) ; Ballauff, Antje (Zentrum für Kinder- und Jugendmedizin Gastroenterology) ; Nedelkopoulou, Natalia (Sheffield Children's Hospital (Sheffield, Regne Unit)) ; Spier, Isabel (University of Bon) ; Loverdos, Inés (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT)) ; Busoni, Veronica B. (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT)) ; Heise, Jürgen (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT)) ; Dale, Peter (Hospital Italiano de Buenos Aires (Argentina)) ; de Meij, Tim (Amsterdam UMC. University Medical Center) ; Sweet, Kevin (Ohio State University Wexner Medical Center) ; Cohen, Marta C. (Sheffield Children's Hospital (Sheffield, Regne Unit)) ; Fox, Victor L. (Boston Children's Hospital (Boston, Estats Units d'Amèrica)) ; Mas, Emmanuel (Université de Toulouse) ; Aretz, Stefan (University of Bonn) ; Eng, Charis (Genomic Medicine Institute) ; Buderus, Stephan (Case Western Reserve University School of Medicine) ; Thomson, Mike (Sheffield Children's Hospital NHS Foundation Trus) ; Rojas, Isabel (University of Texas Southwestern Medical Center) ; Uhlig, Holm H. (University of Oxford) ; Universitat Autònoma de Barcelona
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 suppressor genes: phosphatase and tensin homolog deleted on chromosome 10 (PTEN) and bone morphogenetic protein receptor type IA (BMPR1A). [...]
2021 - DOI (Digital Object Identifier)

10.1093/hmg/ddab094
Human Molecular Genetics, Vol. 30 (april 2021) , p. 1273-1282

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