Metabolome-guided genomics to identify pathogenic variants in isocitrate dehydrogenase, fumarate hyd...
Metabolome-guided genomics to identify pathogenic variants in isocitrate dehydrogenase, fumarate hydratase, and succinate dehydrogenase genes in pheochromocytoma and paraganglioma
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Full title
Author / Creator
Richter, Susan , Gieldon, Laura , Pang, Ying , Peitzsch, Mirko , Huynh, Thanh , Leton, Rocio , Viana, Bruna , Ercolino, Tonino , Mangelis, Anastasios , Rapizzi, Elena , Menschikowski, Mario , Aust, Daniela , Kroiss, Matthias , Beuschlein, Felix , Gudziol, Volker , Timmers, Henri JLM , Lenders, Jacques , Mannelli, Massimo , Cascon, Alberto , Pacak, Karel , Robledo, Mercedes , Eisenhofer, Graeme and Klink, Barbara
Publisher
New York: Nature Publishing Group US
Journal title
Language
English
Formats
Publication information
Publisher
New York: Nature Publishing Group US
Subjects
More information
Scope and Contents
Contents
Purpose
Metabolic aberrations have been described in neoplasms with pathogenic variants (PV) in the Krebs cycle genes encoding succinate dehydrogenase (SDH), fumarate hydratase (FH) and isocitrate dehydrogenase (IDH). In turn, accumulation of oncometabolites succinate, fumarate, and 2-hydroxyglutarate can be employed to identify tumors with thos...
Alternative Titles
Full title
Metabolome-guided genomics to identify pathogenic variants in isocitrate dehydrogenase, fumarate hydratase, and succinate dehydrogenase genes in pheochromocytoma and paraganglioma
Authors, Artists and Contributors
Author / Creator
Gieldon, Laura
Pang, Ying
Peitzsch, Mirko
Huynh, Thanh
Leton, Rocio
Viana, Bruna
Ercolino, Tonino
Mangelis, Anastasios
Rapizzi, Elena
Menschikowski, Mario
Aust, Daniela
Kroiss, Matthias
Beuschlein, Felix
Gudziol, Volker
Timmers, Henri JLM
Lenders, Jacques
Mannelli, Massimo
Cascon, Alberto
Pacak, Karel
Robledo, Mercedes
Eisenhofer, Graeme
Klink, Barbara
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_proquest_miscellaneous_2078582030
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_2078582030
Other Identifiers
ISSN
1098-3600
E-ISSN
1530-0366
DOI
10.1038/s41436-018-0106-5
