Mutations in SDHC cause autosomal dominant paraganglioma, type 3

By S. Niemann, U. Müller. Nature Genetics, 2000

924 citations recorded by the source corpus.

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

View Paper: https://www.semanticscholar.org/paper/d9511d635e9d2f5addd044b4f87e8c17633ab167

How researchers see this paper

The researchers whose trusted networks rank it highest, strongest advocate first. Every researcher gets a different order.

In Cancer Research

1. Ralph J. Deberardinis
2. Craig B. Thompson
3. Eyal Gottlieb
4. Douglas C. Wallace
5. M. V. Vander Heiden
6. W. Marston Linehan
7. P. Ratcliffe
8. C. V. Dang

In Endocrinology, Diabetes and Metabolism

1. Douglas C. Wallace

In Surgery

1. Ralph J. Deberardinis
2. Craig B. Thompson
3. Douglas C. Wallace
4. Beth Levine
5. G. Semenza
6. N. Mizushima
7. Navdeep S. Chandel
8. M. V. Vander Heiden

Citations in the corpus

• The biology of cancer: metabolic reprogramming fuels cell growth and proliferation. (2008, background): “Familial paraganglioma can be caused by mutations in SDHB , SDHC , or SDHD , three of the four SDH sub-units (Astuti et al., 2001; Baysal et al., 2000; Niemann and Muller, 2000).”
• Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline. (2014, neutral): “No. of Cases Mutations SDHB SDHD SDHC VHL RET NF1 SDHA SDHAF2 TMEM127 MAX n % Lefebvre, 2012 (170) 269 21 12 6 ND ND ND ND 0 5 ND 44 16.3 Amar, 2005 (165); Burnichon, 2009 (166) 721 99 131 16 25 16 13 ND ND ND ND 300 41.6 Mannelli, 2009 (162) 501 24 47 4 48 27 11 ND ND ND ND 161 32.1 Cascón, 2009 (1”
• Mitochondrial mutations in cancer (2006, background): “The linkage of mutations in nDNA-encoded mitochondrial gene mutations to cancer (Baysal et al., 2000; Niemann and Muller, 2000; Astuti et al., 2001; Lehtonen et al., 2004; Vanharanta et al., 2004) raises the possibility that mtDNA mutations might also contribute to cancer etiology.”
• A Mitochondrial Paradigm of Metabolic and Degenerative Diseases, Aging, and Cancer: A Dawn for Evolutionary Medicine (2005, background): “Mutations in the mitochondrial fumarate hydratase have been associated with uterine leiomyomas and renal cell carcinomas (112), and mutations in three of the four nDNA-encoded subunits of complex II have been linked to paragangliomas: SDHD (cytb membrane subunit) (15), SDHC (coenzyme Q-binding membr”
• HIF overexpression correlates with biallelic loss of fumarate hydratase in renal cancer: novel role of fumarate in regulation of HIF stability. (2005, background): “Inherited neoplastic syndromes are also associated with mutation of the succinate dehydrogenase (SDH) complex (Astuti et al., 2001; Baysal et al., 2000; Niemann and Muller, 2000), which catalyzes the conversion of succinate to fumarate in the TCA cycle.”
• Succinate dehydrogenase and fumarate hydratase: linking mitochondrial dysfunction and cancer (2006, background): “Following this initial discovery, it did not take long to identify the genes of two other HPGL-associated loci, PGL4 (1p36) and PGL3 (1q21), to be SDHB and SDHC, respectively (Niemann and Muller, 2000; Astuti et al., 2001).”
• Crystal structure of mitochondrial respiratory membrane protein complex II. (2005, background): “…respiratory system and are mainly associated with mutation or truncastion of Complex II (Ackrell, 2002; Astuti et al., 2001a; Astuti et al., 2001b; Baysal et al., 2000; Bourgeron et t Cal., 1995; Douwes Dekker et al., 2003; Ishii et al., 1998; Niemann and Muller, 2000; Rustin and Rotig, 2002).”
• Analysis of cancer metabolism by imaging hyperpolarized nuclei: prospects for translation to clinical research. (2011, background): “Similarly, mutations in the TCA cycle enzyme fumarate hydratase occur in a familial form of leiomyomatosis and renal cell cancer [13,22,23].”
• Gene mutations in the succinate dehydrogenase subunit SDHB cause susceptibility to familial pheochromocytoma and to familial paraganglioma. (2001, background): “…herein: PGL1 (MIM 168000), which results from SDHD mutations at 11q23; PGL2 (MIM 601650), which maps to 11q13, although the causative gene has not been identified (Mariman et al. 1995); and PGL3 (MIM 605373), which results from SDHC mutations at 1q21 (Baysal et al. 2000; Niemann and Muller 2000).”
• Accumulation of Krebs cycle intermediates and over-expression of HIF1alpha in tumours which result from germline FH and SDH mutations. (2005, neutral): “SDHC mutations appear to be uncommon (4).”