Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations.

By H. Neumann, Christian Pawlu, M. Peczkowska, B. Bausch, S. McWhinney, M. Mureşan, Mary Buchta, G. Franke, J. Klisch, T. Bley and 6 more. Journal of the American Medical Association (JAMA), 2004

946 citations recorded by the source corpus.

Subfields: Cancer Research, Endocrinology, Diabetes and Metabolism, Surgery

View Paper: https://www.semanticscholar.org/paper/866ac917b1184fa959e0c836dddb537685f57778

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In Cancer Research

1. Craig B. Thompson
2. Eyal Gottlieb
3. M. C. Simon
4. H. Pelicano
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6. Kyle D Mansfield
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In Surgery

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Citations in the corpus

• Accumulation of Krebs cycle intermediates and over-expression of HIF1alpha in tumours which result from germline FH and SDH mutations. (2005, background): “SDHB mutations are associated with a higher proportion of malignant lesions and a relatively greater risk of phaeochromocytoma (8).”
• Succinate links TCA cycle dysfunction to oncogenesis by inhibiting HIF-alpha prolyl hydroxylase. (2005, background): “Therefore, in tumors carrying VHL mutations that can no noma and papillary thyroid cancer (Neumann et al., 2004), and longer bind to and destabilize HIF-1 (cid:1) , HIF-1 (cid:1) is stabilized even downregulation of SDHD was reported in gastric and colon under normoxic conditions (Kaelin, 2002).…”
• Glycolysis inhibition for anticancer treatment (2006, background): “Germline mutations in FH and SDH are associated with certain hereditary tumors such as leiomyomatosis, renal cell Oncogene carcinoma, pheochromocytoma, and paraganglioma (Astuti et al., 2001; Pollard et al., 2003; Neumann et al., 2004; Bayley et al., 2005).”
• Succinate dehydrogenase and fumarate hydratase: linking mitochondrial dysfunction and cancer (2006, background): “In addition, two comprehensive comparison studies of tumours with SDHB or SDHD mutations have been performed and several obvious differences have been identified (Neumann et al., 2004; Benn, 2006).”
• Mitochondrial tumour suppressors: a genetic and biochemical update (2005, background): “Carriers of SDHB mutations have an increased risk of adrenal phaeochromocytoma and a lower risk of CAROTID BODY paraganglioma compared with carriers of SDHD mutation”