EPAS1 Mutations and Paragangliomas in Cyanotic Congenital Heart Disease
Year: 2018
Type: article
Abstract: Paraganglioma, HIF-2α, and Cyanotic Heart Disease Four of five patients with paragangliomas and pheochromocytomas who had received a diagnosis of congenital cyanotic heart disease had mutant HIF-2α. This contrasts with the prevalence of mutant HIF-2 in these tumor types in the absence of cyanotic heart disease (6 to 10%).
Source: New England Journal of Medicine
DOI: 10.1056/nejmc1716652
Language: English
Subfield: Surgery
Field: Medicine
Domain: Health Sciences
Open Access status: green
Funders: Doris Duke Charitable Foundation, Cancer Prevention and Research Institute of Texas, Dunlevie Family Fund for Adult Congenital Heart Disease, National Institutes of Health, National Cancer Institute, National Institute of General Medical Sciences, National Institute of Diabetes and Digestive and Kidney Diseases, National Center for Advancing Translational Sciences
Awards: Mays Cancer Center at UT Health SA, G1810659369, Investigation of the Tumor Suppressor TMEM127 on Lysosome Function and Lipid Metabolism, High Throughput DNA Sequencer: Illumina HiSeq 3000 Sequencer, G314124149, Institute for Integration of Medicine & Science: A Partnership to Improve Health, G3614813735, Interactions Between Adrenal and Parathyroid Hormones in Human Health, G6667155767, Interaction of the TMEM127 tumor suppressor with the mTORC1 lysosomal activating complex, Institute for Integration of Medicine & Science: A Partnership to Improve Health, G871564352, Cancer Biology Training Program
OpenAlex ID: W2794798512