Exploration of the mutational landscape of cutaneous leiomyoma confirms FH as a driver gene and identifies targeting purine metabolism as a potential therapeutic strategy.

Autor: van der Weyden L; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK., Del Castillo Velasco-Herrera M; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK., Cheema S; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK., Wong K; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK., Boccacino JM; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK., Vermes I; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK., Offord V; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK., Droop A; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK., Jones DRA; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK., Anderson E; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK., Hardy C; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK., de Saint Aubain N; Department of Pathology, Institut Jules Bordet, Université Libre de Bruxelles, Brussels, Belgium., Ferguson PM; Tissue Pathology and Diagnostic Oncology, Royal Prince Alfred Hospital, Camperdown, NSW, Australia.; Faculty of Medicine and Health, The University of Sydney, Sydney, NSW, Australia.; Melanoma Institute Australia, The University of Sydney, Sydney, NSW, Australia., Mogler C; Institute of Pathology, School of Medicine and Health, Technical University Munich, Munich, Germany., Rajan N; Department of Dermatology, Royal Victoria Infirmary, Newcastle upon Tyne, UK.; Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, UK., Frew D; Department of Pathology, Robert J. Tomsich Pathology and Laboratory Medicine Institute, Cleveland Clinic, Cleveland, OH, USA., Harms PW; Departments of Pathology and Dermatology, University of Michigan, Ann Arbor, MI, USA., Billings SD; Department of Pathology, Robert J. Tomsich Pathology and Laboratory Medicine Institute, Cleveland Clinic, Cleveland, OH, USA., Schatton D; University of Cologne, Faculty of Medicine and University Hospital Cologne, Institute for Metabolomics in Ageing, Cluster of Excellence Cellular Stress Responses in Aging-associated Diseases (CECAD), Cologne, Germany.; University of Cologne, Faculty of Mathematics and Natural Sciences, Institute of Genetics, Cluster of Excellence Cellular Stress Responses in Aging-associated Diseases (CECAD), Cologne, Germany., Segarra-Mondejar M; University of Cologne, Faculty of Medicine and University Hospital Cologne, Institute for Metabolomics in Ageing, Cluster of Excellence Cellular Stress Responses in Aging-associated Diseases (CECAD), Cologne, Germany.; University of Cologne, Faculty of Mathematics and Natural Sciences, Institute of Genetics, Cluster of Excellence Cellular Stress Responses in Aging-associated Diseases (CECAD), Cologne, Germany., Arends MJ; University of Edinburgh, Division of Pathology, Centre for Comparative Pathology, CRUK Edinburgh Centre, Institute of Genetics and Cancer, Western General Hospital, Crewe Road South, Edinburgh, U.K., Ferreira I; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK., Brenn T; Departments of Pathology and Dermatology, University of Michigan, Ann Arbor, MI, USA., Frezza C; University of Cologne, Faculty of Medicine and University Hospital Cologne, Institute for Metabolomics in Ageing, Cluster of Excellence Cellular Stress Responses in Aging-associated Diseases (CECAD), Cologne, Germany.; University of Cologne, Faculty of Mathematics and Natural Sciences, Institute of Genetics, Cluster of Excellence Cellular Stress Responses in Aging-associated Diseases (CECAD), Cologne, Germany., Adams DJ; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK.
Jazyk: angličtina
Zdroj: The British journal of dermatology [Br J Dermatol] 2024 Nov 07. Date of Electronic Publication: 2024 Nov 07.
DOI: 10.1093/bjd/ljae432
Databáze: MEDLINE