Clinical and molecular progress in hereditary paraganglioma: Figure 1

Baysal, B E

doi:10.1136/jmg.2008.058560

Cited by 86Adrenal and Paraganglionic TumorsNeurofibromatosis and Schwannoma CasesEar and Head Tumors

Clinical and molecular progress in hereditary paraganglioma: Figure 1

Baysal, B E·2008·Journal of Medical Genetics

DOI 10.1136/jmg.2008.058560

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Abstract

Hereditary paraganglioma (PGL) is characterised by genetic predisposition to the development of highly vascular tumours of the paraganglionic tissues and caused by germ line inactivating mutations in the SDHB, SDHC and SDHD subunits of mitochondrial succinate dehydrogenase enzyme complex (SDH; mitochondrial complex II). Recent studies have demonstrated that SDH gene mutations in germ line occur in at least 11% of non-familial head and neck paragangliomas, 8% of non-familial pheochromocytomas, 28% of malignant pheochromocytomas and 33% of extra-adrenal pheochromocytomas. An increasing amount of data suggest that PGL mutations lead to constitutive activation of hypoxia signalling pathways. Genetic and structural models suggest that SDH mutations cause an accumulation of succinate and reactive oxygen species (ROS) which might act as downstream signalling molecules that activate hypoxia inducible pathways. However, many fundamental aspects of PGL pathogenesis, including the mechanism of ROS accumulation, the imprinted transmission pattern of SDHD mutations, and the precise role of SDH in regulation of oxygen homeostasis, remain poorly understood.

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Mutations in succinate dehydrogenase (SDH) were identified in dominantly inherited familial paraganglioma.
“Mutations in succinate dehydrogenase (SDH), an oxidoreductase complex that functions in both the ETC and TCA cycle, were identified in dominantly-inherited familial paraganglioma (Baysal, 2008; Baysal et al., 2000).”
From Cellular Metabolism and Disease: What Do Metabolic Outliers Teach Us? (2012) · cites this paper as Baysal, 2008

Succinate links TCA cycle dysfunction to oncogenesis by inhibiting HIF-α prolyl hydroxylase
Selak, M. A., Armour, S. M., MacKenzie, E. D., Boulahbel, H., Watson, D. G., Mansfield, K. D., Pan, Y., Simon, M. C., Thompson, C. B., & Gottlieb, E. (2005) · Cancer Cell · doi:10.1016/j.ccr.2004.11.022 · Cited by 2,108 · see citing works
Oxygen sensing by HIF hydroxylases
Schofield, C. J., & Ratcliffe, P. J. (2004) · Nature Reviews Molecular Cell Biology · doi:10.1038/nrm1366 · Cited by 2,068 · see citing works
Mutations in SDHD , a Mitochondrial Complex II Gene, in Hereditary Paraganglioma
Baysal, B. E., Ferrell, R. E., Willett-Brozick, J. E., Lawrence, E. C., Myssiorek, D., Bosch, A., Mey, A. V. D., Taschner, P. E. M., Rubinstein, W. S., Myers, E. N., et al. (2000) · Science · doi:10.1126/science.287.5454.848 · Cited by 1,638 · see citing works
Self-citation
Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer
The Multiple Leiomyoma Consortium (2002) · Nature Genetics · doi:10.1038/ng849 · Cited by 1,635 · see citing works
Germ-Line Mutations in Nonsyndromic Pheochromocytoma
Neumann, H. P. H., Bausch, B., McWhinney, S. R., Bender, B., Gimm, O., Franke, G., Schipper, J., Klisch, J., Altehoefer, C., Zerres, K., et al. (2002) · New England Journal of Medicine · doi:10.1056/nejmoa020152 · Cited by 1,350 · see citing works
Gene Mutations in the Succinate Dehydrogenase Subunit SDHB Cause Susceptibility to Familial Pheochromocytoma and to Familial Paraganglioma
Astuti, D., Latif, F., Dallol, A., Dahia, P. L. M., Douglas, F., George, E., Sköldberg, F., Husebye, E. S., Eng, C., & Maher, E. R. (2001) · The American Journal of Human Genetics · doi:10.1086/321282 · Cited by 1,087 · see citing works
Carotid body chemoreceptors: from natural stimuli to sensory discharges.
González, C., Almaraz, L., Obeso, A., & Rigual, R. J. (1994) · Physiological Reviews · doi:10.1152/physrev.1994.74.4.829 · Cited by 994 · see citing works
HIF overexpression correlates with biallelic loss of fumarate hydratase in renal cancer: Novel role of fumarate in regulation of HIF stability
Isaacs, J. S., Jung, Y. J., Mole, D. R., Lee, S., Torres-Cabala, C., Chung, Y.-L., Merino, M., Trepel, J., Zbar, B., Toro, J., et al. (2005) · Cancer Cell · doi:10.1016/j.ccr.2005.06.017 · Cited by 958 · see citing works
Architecture of succinate dehydrogenase and reactive oxygen species generation
Yankovskaya, V., Horsefield, R., Törnroth, S., Luna-Chavez, C., Miyoshi, H., Léger, C., Byrne, B., Cecchini, G., & Iwata, S. (2003) · Science · doi:10.1126/science.1079605 · Cited by 927 · cited 1× · see citing works
“Three dimensional structural models of prokaryotic and eukaryotic SDH enzymes are now available.”
Background
Distinct Clinical Features of Paraganglioma Syndromes Associated With <EMPH TYPE="ITAL">SDHB</EMPH> and <EMPH TYPE="ITAL">SDHD</EMPH> Gene Mutations
Neumann, H. P. H. (2004) · JAMA · doi:10.1001/jama.292.8.943 · Cited by 893 · see citing works
Crystal Structure of Mitochondrial Respiratory Membrane Protein Complex II
Sun, F., Huo, X., Zhai, Y., Wang, A., Xu, J., Su, D., Bartlam, M., & Rao, Z. (2005) · Cell · doi:10.1016/j.cell.2005.05.025 · Cited by 881 · see citing works
Mutations in SDHC cause autosomal dominant paraganglioma, type 3
Niemann, S., & Müller, U. (2000) · Nature Genetics · doi:10.1038/81551 · Cited by 875 · see citing works
Accumulation of Krebs cycle intermediates and over-expression of HIF1α in tumours which result from germline FH and SDH mutations
Pollard, P. J., Brière, J. J., Alam, N. A., Barwell, J., Barclay, E., Wortham, N. C., Hunt, T., Mitchell, M., Olpin, S., Moat, S. J., et al. (2005) · Human Molecular Genetics · doi:10.1093/hmg/ddi227 · Cited by 865 · see citing works
Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency
Bourgeron, T., Rustin, P., Chretien, D., Birch-Machin, M., Bourgeois, M., Viegas-Péquignot, E., Munnich, A., & Rötig, A. (1995) · Nature Genetics · doi:10.1038/ng1095-144 · Cited by 730 · cited 1× · see citing works
“Surprisingly, mutations in the major catalytical subunit SDHA have yet to be linked to PGL, although homozygous mutations in SDHA cause neurodegenerative disorders resembling other mitochondrial diseases.(6)”
Background
A mutation in succinate dehydrogenase cytochrome b causes oxidative stress and ageing in nematodes.
Ishii, N., Fujii, M., Hartman, P. S., Tsuda, M., Yasuda, K., Senoo-Matsuda, N., Yanase, S., Ayusawa, D., & Suzuki, K. (1998) · Nature · doi:10.1038/29331 · Cited by 687 · cited 1× · see citing works
“mutation and displays a premature aging phenotype as a result of increased superoxide levels.”
Background
Genetic Testing in Pheochromocytoma or Functional Paraganglioma
Amar, L., Bertherat, J. Y., Baudin, É., Ajzenberg, C., Paillerets, B. B., Chabre, O., Chamontin, B., Delemer, B., Giraud, S., Murat, A., et al. (2005) · Journal of Clinical Oncology · doi:10.1200/jco.2005.03.1484 · Cited by 683 · see citing works
Clinical Presentation and Penetrance of Pheochromocytoma/Paraganglioma Syndromes
Benn, D. E., Gimenez‐Roqueplo, A., Reilly, J. R., Bertherat, J. Y., Burgess, J. R., Byth, K., CROXSON, M. S., Dahia, P. L. M., Elston, M. S., Gimm, O., et al. (2006) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2005-1862 · Cited by 565 · see citing works
Neuronal apoptosis linked to EglN3 prolyl hydroxylase and familial pheochromocytoma genes: developmental culling and cancer
Lee, S., Nakamura, E., Yang, H., Wei, W., Linggi, M. S., Sajan, M. P., Farese, R. V., Freeman, R. S., Carter, B. D., Kaelin, W. G., et al. (2005) · Cancer Cell · doi:10.1016/j.ccr.2005.06.015 · Cited by 527 · see citing works
Clinical and molecular genetics of patients with the Carney–Stratakis syndrome and germline mutations of the genes coding for the succinate dehydrogenase subunits SDHB, SDHC, and SDHD
Pasini, B., McWhinney, S. R., Bei, T. A., Matyakhina, L., Stergiopoulos, S. G., Muchow, M., Boikos, S. A., Ferrando, B., Pacák, K., Assié, G., et al. (2007) · European Journal of Human Genetics · doi:10.1038/sj.ejhg.5201904 · Cited by 483 · see citing works
A HIF1α Regulatory Loop Links Hypoxia and Mitochondrial Signals in Pheochromocytomas
Dahia, P. L. M., Ross, K. N., Wright, M. E., Hayashida, C. Y., Santagata, S., Barontini, M., Kung, A. L., Sanso, G., Powers, J. F., Tischler, A. S., et al. (2005) · PLoS Genetics · doi:10.1371/journal.pgen.0010008 · Cited by 443 · see citing works
Loss of the SdhB, but Not the SdhA, Subunit of Complex II Triggers Reactive Oxygen Species-Dependent Hypoxia-Inducible Factor Activation and Tumorigenesis
Guzy, R. D., Sharma, B., Bell, E., Chandel, N. S., & Schumacker, P. T. (2008) · Molecular and Cellular Biology · doi:10.1128/mcb.01338-07 · Cited by 427 · see citing works
Prevalence of SDHB, SDHC, and SDHD germline mutations in clinic patients with head and neck paragangliomas
Baysal, B. E., Willett-Brozick, J. E., Lawrence, E. C., Drovdlic, C. M., Savul, S. A., McLeod, D. R., Yee, H. A., Brackmann, D. E., Slattery, W. H., Myers, E. N., et al. (2002) · Journal of Medical Genetics · doi:10.1136/jmg.39.3.178 · Cited by 336 · see citing works
Self-citation
Predictors and Prevalence of Paraganglioma Syndrome Associated With Mutations of the SDHC Gene
Schiavi, F. (2005) · JAMA · doi:10.1001/jama.294.16.2057 · Cited by 328 · see citing works
High Frequency ofSDHBGermline Mutations in Patients with Malignant Catecholamine-Producing Paragangliomas: Implications for Genetic Testing
Brouwers, F. M., Eisenhofer, G., Tao, J. J., Kant, J. A., Adams, K. T., Linehan, W. M., & Pacák, K. (2006) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2006-0423 · Cited by 314 · see citing works
Hypsographic demography: The distribution of human population by altitude
Cohen, J. E., & Small, C. (1998) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.95.24.14009 · Cited by 290 · see citing works
Clinical Presentations, Biochemical Phenotypes, and Genotype-Phenotype Correlations in Patients withSuccinate Dehydrogenase Subunit B-Associated Pheochromocytomas and Paragangliomas
Timmers, H. J. L. M., Kozupa, A., Eisenhofer, G., Raygada, M. J., Adams, K. T., Solis, D. C., Lenders, J. W. M., & Pacák, K. (2007) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2006-2315 · Cited by 278 · see citing works
Hereditary paraganglioma targets diverse paraganglia: Table 1
Baysal, B. E. (2002) · Journal of Medical Genetics · doi:10.1136/jmg.39.9.617 · Cited by 233 · see citing works
Self-citation
Carotid body tumors in inhabitants of altitudes higher than 2000 meters above sea level
Rodriguez-Cuevas, S. A., López-Garza, J., & Labastida-Almendaro, S. (1998) · Head & Neck · doi:10.1002/(sici)1097-0347(199808)20:5 · Cited by 209 · see citing works
Mutation of Succinate Dehydrogenase Subunit C Results in Increased O2·−, Oxidative Stress, and Genomic Instability
Slane, B. G., Aykin‐Burns, N., Smith, B. J., Kalen, A. L., Goswami, P. C., Domann, F. E., & Spitz, D. R. (2006) · Cancer Research · doi:10.1158/0008-5472.can-06-0833 · Cited by 188 · see citing works
Altitude is a phenotypic modifier in hereditary paraganglioma type�1: evidence for an oxygen-sensing defect
Astrom, K., Cohen, J. E., Willett-Brozick, J. E., Aston, C. E., & Baysal, B. E. (2003) · Human Genetics · doi:10.1007/s00439-003-0969-6 · Cited by 187 · see citing works
Self-citation
Succinate inhibition of α-ketoglutarate-dependent enzymes in a yeast model of paraganglioma
Smith, E. H., Janknecht, R., & Maher, L. J. (2007) · Human Molecular Genetics · doi:10.1093/hmg/ddm275 · Cited by 169 · see citing works
Nearly all hereditary paragangliomas in The Netherlands are caused by two founder mutations in the SDHD gene
Taschner, P. E. M., Jansen, J. C., Baysal, B. E., Bosch, A. M., Rosenberg, E. H., Bröcker‐Vriends, A. H. J. T., van der Mey, A. G. L., van Ommen, G. B., Cornelisse, C. J., & Devilee, P. (2001) · Genes Chromosomes and Cancer · doi:10.1002/gcc.1144 · Cited by 165 · see citing works
Self-citation
Mutation analysis of SDHB and SDHC: novel germline mutations in sporadic head and neck paraganglioma and familial paraganglioma and/or pheochromocytoma
Bayley, J., van Minderhout, I. J. H. M., Weiss, M. M., Jansen, J. C., Oomen, P. H. N., Menko, F. H., Pasini, B., Ferrando, B., Wong, N., Alpert, L., et al. (2006) · BMC Medical Genetics · doi:10.1186/1471-2350-7-1 · Cited by 158 · see citing works
Somatic loss of maternal chromosome 11 causes parent-of-origin-dependent inheritance in SDHD-linked paraganglioma and phaeochromocytoma families
Hensen, E. F., Jordanova, E. S., van Minderhout, I. J. H. M., Hogendoorn, P. C. W., Taschner, P. E. M., van der Mey, A. G. L., Devilee, P., & Cornelisse, C. J. (2004) · Oncogene · doi:10.1038/sj.onc.1207591 · Cited by 153 · see citing works
Mitochondrial succinate is instrumental for HIF1α nuclear translocation in SDHA-mutant fibroblasts under normoxic conditions
Brière, J.-J., Favier, J., Bénit, P., Ghouzzi, V. E., Lorenzato, A., Rabier, D., Renzo, M. F. D., Gimenez‐Roqueplo, A., & Rustin, P. (2005) · Human Molecular Genetics · doi:10.1093/hmg/ddi359 · Cited by 153 · see citing works
The Mitochondrial SDHD Gene Is Required for Early Embryogenesis, and Its Partial Deficiency Results in Persistent Carotid Body Glomus Cell Activation with Full Responsiveness to Hypoxia
Piruat, J. I., Pintado, C. O., Ortega‐Sáenz, P., Roche-Molina, M., & López‐Barneo, J. (2004) · Molecular and Cellular Biology · doi:10.1128/mcb.24.24.10933-10940.2004 · Cited by 150 · see citing works
Expression of HIF-1α, HIF-2α (EPAS1), and Their Target Genes in Paraganglioma and Pheochromocytoma with VHL and SDH Mutations
Pollard, P. J., El-Bahrawy, M. A., Poulsom, R., Elia, G., Killick, P., Kelly, G. P., Hunt, T., Jeffery, R. E., Seedhar, P., Barwell, J., et al. (2006) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2006-0920 · Cited by 140 · see citing works
Genetic analysis of mitochondrial complex II subunits SDHD, SDHB and SDHC in paraganglioma and phaeochromocytoma susceptibility
Astuti, D., Hart‐Holden, N., Latif, F., Lalloo, F. I., Black, G. C. M., Lim, C., Moran, A., Grossman, A. B., Hodgson, S. V., Freemont, A. J., et al. (2003) · Clinical Endocrinology · doi:10.1046/j.1365-2265.2003.01914.x · Cited by 107 · see citing works
Ubiquinone-binding Site Mutations in the Saccharomyces cerevisiae Succinate Dehydrogenase Generate Superoxide and Lead to the Accumulation of Succinate
Szeto, S. S. W., Reinke, S. N., Sykes, B. D., & Lemire, B. D. (2007) · Journal of Biological Chemistry · doi:10.1074/jbc.m700601200 · Cited by 104 · see citing works
Genetic screening for pheochromocytoma: should SDHC gene analysis be included?: Figure 1
Mannelli, M., Ercolino, T., Giaché, V., Simi, L., Cirami, C. L., & Parenti, G. (2007) · Journal of Medical Genetics · doi:10.1136/jmg.2007.051045 · Cited by 94 · see citing works
Large Germline Deletions of Mitochondrial Complex II Subunits SDHB and SDHD in Hereditary Paraganglioma
McWhinney, S. R., Pilarski, R. T., Forrester, S. R., Schneider, M. C., Sarquis, M. M., Dias, E. P., & Eng, C. (2004) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2004-0769 · Cited by 89 · see citing works
Paraganglioma after Maternal Transmission of a Succinate Dehydrogenase Gene Mutation
Pigny, P., Vincent, A., Bauters, C. C., Bertrand, M., de Montpréville, V., Crepin, M., Porchet, N., & Caron, P. J. (2008) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2007-1989 · Cited by 86 · see citing works
The prevalence of SDHB, SDHC, and SDHD mutations in patients with head and neck paraganglioma and association of mutations with clinical features
Badenhop, R. F., Jansen, J. C., Fagan, P. A., Lord, R. S. A., Wang, Z. G., Foster, W. J., & Schofield, P. R. (2004) · Journal of Medical Genetics · doi:10.1136/jmg.2003.011551 · Cited by 78 · see citing works
An Alu-mediated partial SDHC deletion causes familial and sporadic paraganglioma
Baysal, B. E., Willett-Brozick, J. E., Filho, P. A. A., Lawrence, E. C., Myers, E. N., & Ferrell, R. E. (2004) · Journal of Medical Genetics · doi:10.1136/jmg.2004.019224 · Cited by 78 · see citing works
Self-citation
Gross SDHB deletions in patients with paraganglioma detected by multiplex PCR: A possible hot spot?
Cascón, A., Montero‐Conde, C., Ruiz‐Llorente, S., Mercadillo, F., Letón, R., Rodríguez‐Antona, C., Martínez–Delgado, B., Delgado, M., Díez, A., Rovira, A., et al. (2005) · Genes Chromosomes and Cancer · doi:10.1002/gcc.20283 · Cited by 73 · see citing works
Frequent germ-line succinate dehydrogenase subunit D gene mutations in patients with apparently sporadic parasympathetic paraganglioma.
Dannenberg, H., Dinjens, W. N. M., Abbou, M., van Urk, H., Pauw, B. K. H., Mouwen, D., Mooi, W. J., & de Krijger, R. R. (2002) · PubMed · Cited by 72 · see citing works
Distinct expression profile in fumarate-hydratase-deficient uterine fibroids
Vanharanta, S., Pollard, P. J., Lehtonen, H. J., Laiho, P., Sjöberg, J., Leminen, A., Aittomäki, K., Arola, J. T., Kruhøffer, M., Orntoft, T. F., et al. (2005) · Human Molecular Genetics · doi:10.1093/hmg/ddi431 · Cited by 72 · see citing works
The Saccharomyces cerevisiae succinate dehydrogenase does not require heme for ubiquinone reduction
Oyedotun, K. S., Sit, C. S., & Lemire, B. D. (2007) · Biochimica et Biophysica Acta (BBA) - Bioenergetics · doi:10.1016/j.bbabio.2007.09.008 · Cited by 54 · see citing works
High Frequency of Germline Succinate Dehydrogenase Mutations in Sporadic Cervical Paragangliomas in Northern Spain: Mitochondrial Succinate Dehydrogenase Structure-Function Relationships and Clinical-Pathological Correlations
Lima, J. P., Feijão, T., da Silva, A. F., Pereira‐Castro, I., Fernandez-Ballester, G. J., Máximo, V., Herrero, A., Serrano, L., Sobrinho-Simões, M. A., & García‐Rostán, G. (2007) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2007-0640 · Cited by 53 · see citing works
Escherichia coli succinate dehydrogenase variant lacking the heme b
Tran, Q. M., Rothery, R. A., Maklashina, E., Cecchini, G., & Weiner, J. H. (2007) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0707732104 · Cited by 51 · see citing works
A Recurrent Stop-Codon Mutation in Succinate Dehydrogenase Subunit B Gene in Normal Peripheral Blood and Childhood T-Cell Acute Leukemia
Baysal, B. E. (2007) · PLoS ONE · doi:10.1371/journal.pone.0000436 · Cited by 50 · see citing works
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Sequence variation in human succinate dehydrogenase genes: evidence for long-term balancing selection on SDHA
Baysal, B. E., Lawrence, E. C., & Ferrell, R. E. (2007) · BMC Biology · doi:10.1186/1741-7007-5-12 · Cited by 39 · see citing works
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Korpershoek, E., Petri, B., van Nederveen, F. H., Dinjens, W. N. M., Verhofstad, A. A. J., de Herder, W. W., Schmid, S., Perren, A. A., Komminoth, P., & de Krijger, R. R. (2007) · Endocrine Related Cancer · doi:10.1677/erc-06-0044 · Cited by 38 · see citing works
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Schiavi, F., Savvoukidis, T., Trabalzini, F., Grego, F., Piazza, M., Amistà, P., Demattè, S., Piano, A. D., Cecchini, M. E., Erlic, Z., et al. (2006) · Annals of the New York Academy of Sciences · doi:10.1196/annals.1353.020 · Cited by 37 · see citing works
Role of Mitochondrial Mutations in Cancer
Baysal, B. E. (2006) · Endocrine Pathology · doi:10.1385/ep:17:3:203 · Cited by 34 · see citing works
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Cervical paragangliomas: is SDH genetic analysis systematically required?
Fakhry, N., Niccoli‐Sire, P., Barlier, A., et al. (2007) · European Archives of Oto-Rhino-Laryngology · doi:10.1007/s00405-007-0517-4 · Cited by 33 · see citing works
Genetic Mutation Screening in an Italian Cohort of Nonsyndromic Pheochromocytoma/Paraganglioma Patients
Castellano, M., Mori, L., Giacchè, M., Agliozzo, E., Tosini, R., Panarotto, A., Cappelli, C., Mulatero, P., Cumetti, D., Veglio, F., et al. (2006) · Annals of the New York Academy of Sciences · doi:10.1196/annals.1353.016 · Cited by 30 · see citing works
Genetic Analysis of High Altitude Paragangliomas
Jech, M., Alvarado‐Cabrero, I., Albores‐Saavedra, J., Dahia, P. L. M., & Tischler, A. S. (2006) · Endocrine Pathology · doi:10.1385/ep:17:2:201 · Cited by 19 · see citing works
A Phenotypic Perspective on Mammalian Oxygen Sensor Candidates
Baysal, B. E. (2006) · Annals of the New York Academy of Sciences · doi:10.1196/annals.1353.024 · Cited by 17 · see citing works
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Compensatory alterations in energy homeostasis characterized in uterine tumors from hereditary leiomyomatosis and renal cell cancer
Catherino, W. H., Mayers, C. M., Mantzouris, T., Armstrong, A. Y., Linehan, W. M., & Segars, J. H. (2007) · Fertility and Sterility · doi:10.1016/j.fertnstert.2006.11.198 · Cited by 16 · see citing works
Novel Germline Mutations in the SDHB and SDHD Genes in Japanese Pheochromocytomas
Isobe, K., Minowada, S., Tatsuno, I., Suzukawa, K., Nissato, S., Nanmoku, T., Hara, H., YASHIRO, T., Kawakami, Y., & Takekoshi, K. (2007) · Hormone Research in Paediatrics · doi:10.1159/000099655 · Cited by 15 · see citing works

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Gene Mutations in the Succinate Dehydrogenase Subunit SDHB Cause Susceptibility to Familial Pheochromocytoma and to Familial Paraganglioma
Astuti, D., Latif, F., Dallol, A., Dahia, P. L. M., Douglas, F., George, E., Sköldberg, F., Husebye, E. S., Eng, C., & Maher, E. R. (2001) · The American Journal of Human Genetics · doi:10.1086/321282 · Cited by 1,087 · see citing works
SDHC mutations in hereditary paraganglioma/pheochromocytoma
Müller, U., Troidl, C., & Niemann, S. (2005) · Familial Cancer · doi:10.1007/s10689-004-0621-1 · Cited by 44 · see citing works

Authors: Baysal, B. E.
Affiliations: Yale University (US)
Corresponding author: Baysal, B E
ORCID: Baysal, B E
Venue: Journal of Medical Genetics
Publisher: BMJ
Published: 2008-10-31
Volume: 45
Issue: 11
Pages: 689-694
ISSN: 0022-2593 (ISSN-L)
1468-6244
DOI: 10.1136/jmg.2008.058560
OpenAlex: W2155895139
Cited by: 86
References: 61
Citations by year: 2026: 1 · 2025: 1 · 2024: 4 · 2023: 2 · 2022: 3 · 2021: 2 · 2020: 6 · 2019: 4 · 2018: 1 · 2017: 3 · 2016: 2 · 2015: 4 · 2014: 7 · 2013: 1 · 2012: 10
FWCI: 1.92
Type: journal article
Language: en
Open access: closed
Locations: Journal of Medical Genetics (publishedVersion)
PubMed (publishedVersion)
HighWire Press Open Archive (submittedVersion)
Funders: National Cancer Institute (CA11236)
Topics: Health Sciences › Medicine › Surgery › Adrenal and Paraganglionic Tumors
Health Sciences › Medicine › Neurology › Neurofibromatosis and Schwannoma Cases
Health Sciences › Medicine › Oncology › Ear and Head Tumors
Keywords: hereditary paraganglioma, succinate dehydrogenase, SDHB, SDHC, SDHD, germline mutations, pheochromocytoma, hypoxia signaling, succinate accumulation, reactive oxygen species, oxygen homeostasis, carcinogenesis
MeSH terms: Adrenal Gland Neoplasms, Head and Neck Neoplasms, Humans, Paraganglioma, Succinate Dehydrogenase, Germ-Line Mutation

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