{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,15]],"date-time":"2026-02-15T21:24:01Z","timestamp":1771190641879,"version":"3.50.1"},"reference-count":40,"publisher":"The Endocrine Society","issue":"12","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2007,12,1]]},"DOI":"10.1210\/jc.2007-0640","type":"journal-article","created":{"date-parts":[[2007,9,11]],"date-time":"2007-09-11T23:29:28Z","timestamp":1189553368000},"page":"4853-4864","source":"Crossref","is-referenced-by-count":46,"title":["High Frequency of Germline Succinate Dehydrogenase Mutations in Sporadic Cervical Paragangliomas in Northern Spain: Mitochondrial Succinate Dehydrogenase Structure-Function Relationships and Clinical-Pathological Correlations"],"prefix":"10.1210","volume":"92","author":[{"given":"Jorge","family":"Lima","sequence":"first","affiliation":[{"name":"Institute of Medical Faculty (J.L., M.S.-S.), University of Porto, 4200\u2013465 Porto, Portugal"},{"name":"Institute of Molecular Pathology and Immunology of University of Porto (J.L., T.F., A.F.d.S., I.P.-C., V.M., M.S.-S., G.G.-R.), University of Porto, 4200\u2013465 Porto, Portugal"}]},{"given":"Ta\u0301lia","family":"Feija\u0303o","sequence":"additional","affiliation":[{"name":"Institute of Molecular Pathology and Immunology of University of Porto (J.L., T.F., A.F.d.S., I.P.-C., V.M., M.S.-S., G.G.-R.), University of Porto, 4200\u2013465 Porto, Portugal"}]},{"given":"Andre\u0301","family":"Ferreira da Silva","sequence":"additional","affiliation":[{"name":"Institute of Molecular Pathology and Immunology of University of Porto (J.L., T.F., A.F.d.S., I.P.-C., V.M., M.S.-S., G.G.-R.), University of Porto, 4200\u2013465 Porto, Portugal"}]},{"given":"Isabel","family":"Pereira-Castro","sequence":"additional","affiliation":[{"name":"Institute of Molecular Pathology and Immunology of University of Porto (J.L., T.F., A.F.d.S., I.P.-C., V.M., M.S.-S., G.G.-R.), University of Porto, 4200\u2013465 Porto, Portugal"}]},{"given":"Gregorio","family":"Fernandez-Ballester","sequence":"additional","affiliation":[{"name":"Institute of Molecular and Cellular Biology (IBMC) (G.F.-B.), Miguel Hernandez University, Elche, 03202 Alicante, Spain"}]},{"given":"Valdemar","family":"Ma\u0301ximo","sequence":"additional","affiliation":[{"name":"Institute of Molecular Pathology and Immunology of University of Porto (J.L., T.F., A.F.d.S., I.P.-C., V.M., M.S.-S., G.G.-R.), University of Porto, 4200\u2013465 Porto, Portugal"}]},{"given":"Agustin","family":"Herrero","sequence":"additional","affiliation":[{"name":"Department of Pathology (A.H.), School of Medicine, Oviedo University, Oviedo, 33006 Asturias, Spain"}]},{"given":"Luis","family":"Serrano","sequence":"additional","affiliation":[{"name":"Department Structural and Computational Biology (L.S.), European Molecular Biology Laboratory, Heidelberg, 69117 Germany and Systems Biology Programme, Centre for Genomic Regulation, 08003 Barcelona, Spain"}]},{"given":"Manuel","family":"Sobrinho-Simo\u0303es","sequence":"additional","affiliation":[{"name":"Hospital S. Joa\u0303o (M.S.-S.), 4202\u2013451 Porto, Portugal"},{"name":"Institute of Medical Faculty (J.L., M.S.-S.), University of Porto, 4200\u2013465 Porto, Portugal"},{"name":"Institute of Molecular Pathology and Immunology of University of Porto (J.L., T.F., A.F.d.S., I.P.-C., V.M., M.S.-S., G.G.-R.), University of Porto, 4200\u2013465 Porto, Portugal"}]},{"given":"Ginesa","family":"Garcia-Rostan","sequence":"additional","affiliation":[{"name":"Institute of Molecular Pathology and Immunology of University of Porto (J.L., T.F., A.F.d.S., I.P.-C., V.M., M.S.-S., G.G.-R.), University of Porto, 4200\u2013465 Porto, Portugal"}]}],"member":"80","reference":[{"key":"2019041116124879600_R1","first-page":"369","article-title":"Paragangliomas in the head and neck","author":"Batsakis","year":"1979","journal-title":"In: Tumors of the head and neck: clinical and pathological considerations. Batsakis JG, ed. 2nd edition. Baltimore, MD: Lippincott Williams and Wilkins;"},{"key":"2019041116124879600_R2","first-page":"573","article-title":"Carotid body tumors in humans: genetics and epidemiology.","volume":"68","author":"Parry","year":"1982","journal-title":"J Natl Cancer Inst"},{"key":"2019041116124879600_R3","author":"DeLellis","year":"2004"},{"key":"2019041116124879600_R4","author":"Lack","year":"1992"},{"key":"2019041116124879600_R5","doi-asserted-by":"crossref","first-page":"348","DOI":"10.1016\/S0025-6196(12)64856-3","article-title":"Surgical resection of carotid body tumors: long-term survival, recurrence, and metastasis.","volume":"63","author":"Nora","year":"1988","journal-title":"Mayo Clin Proc"},{"key":"2019041116124879600_R6","doi-asserted-by":"crossref","first-page":"30","DOI":"10.1097\/00005537-199901000-00007","article-title":"Malignant glomus tumors.","volume":"109","author":"Manolidis","year":"1999","journal-title":"Laryngoscope"},{"key":"2019041116124879600_R7","first-page":"121","article-title":"Fine mapping of an imprinted gene for familial nonchromaffin paragangliomas, on chromosome 11q23.","volume":"60","author":"Baysal","year":"1997","journal-title":"Am J Hum Genet"},{"key":"2019041116124879600_R8","doi-asserted-by":"crossref","first-page":"848","DOI":"10.1126\/science.287.5454.848","article-title":"Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma.","volume":"287","author":"Baysal","year":"2000","journal-title":"Science"},{"key":"2019041116124879600_R9","doi-asserted-by":"crossref","first-page":"268","DOI":"10.1038\/81551","article-title":"Mutations in SDHC cause autosomal dominant paraganglioma, type 3.","volume":"26","author":"Niemann","year":"2000","journal-title":"Nat Genet"},{"key":"2019041116124879600_R10","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1086\/321282","article-title":"Gene mutations in the succinate dehydrogenase subunit SDHB cause susceptibility to familial pheochromocytoma and to familial paraganglioma.","volume":"69","author":"Astuti","year":"2001","journal-title":"Am J Hum Genet"},{"key":"2019041116124879600_R11","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1146\/annurev.biochem.72.121801.161700","article-title":"Function and structure of complex II of the respiratory chain.","volume":"72","author":"Cecchini","year":"2003","journal-title":"Annu Rev Biochem"},{"key":"2019041116124879600_R12","doi-asserted-by":"crossref","first-page":"857","DOI":"10.1038\/nrc1737","article-title":"Mitochondrial tumour suppressors: a genetic and biochemical update.","volume":"5","author":"Gottlieb","year":"2005","journal-title":"Nat Rev Cancer"},{"key":"2019041116124879600_R13","doi-asserted-by":"crossref","first-page":"453","DOI":"10.1016\/j.tem.2003.08.004","article-title":"On the association of succinate dehydrogenase mutations with hereditary paraganglioma.","volume":"14","author":"Baysal","year":"2003","journal-title":"Trends Endocrinol Metab"},{"key":"2019041116124879600_R14","doi-asserted-by":"crossref","first-page":"85","DOI":"10.1002\/ajmg.c.30018","article-title":"Genomic imprinting and environment in hereditary paraganglioma.","volume":"129","author":"Baysal","year":"2004","journal-title":"Am J Med Genet C Semin Med Genet"},{"key":"2019041116124879600_R15","doi-asserted-by":"crossref","first-page":"63","DOI":"10.1002\/humu.20201","article-title":"LOVD: easy creation of a locus-specific sequence variation database using an \u201cLSDB-in-a-Box\u201d approach.","volume":"26","author":"Fokkema","year":"2005","journal-title":"Hum Mutat"},{"key":"2019041116124879600_R16","doi-asserted-by":"crossref","first-page":"2057","DOI":"10.1001\/jama.294.16.2057","article-title":"Predictors and prevalence of paraganglioma syndrome associated with mutations of the SDHC gene.","volume":"294","author":"Schiavi","year":"2005","journal-title":"JAMA"},{"key":"2019041116124879600_R17","first-page":"391","article-title":"An efficient salt-chloroform extraction of DNA from blood and tissues","volume":"5","author":"Mullenbach","year":"1989","journal-title":"Trends Genet"},{"key":"2019041116124879600_R18","first-page":"1811","article-title":"Frequent mutation and nuclear localization of \u03b2-catenin in anaplastic thyroid carcinoma.","volume":"59","author":"Garcia-Rostan","year":"1999","journal-title":"Cancer Res"},{"key":"2019041116124879600_R19","doi-asserted-by":"crossref","first-page":"1043","DOI":"10.1016\/j.cell.2005.05.025","article-title":"Crystal structure of mitochondrial respiratory membrane protein complex II.","volume":"121","author":"Sun","year":"2005","journal-title":"Cell"},{"key":"2019041116124879600_R20","doi-asserted-by":"crossref","first-page":"700","DOI":"10.1126\/science.1079605","article-title":"Architecture of succinate dehydrogenase and reactive oxygen species generation.","volume":"299","author":"Yankovskaya","year":"2003","journal-title":"Science"},{"key":"2019041116124879600_R21","doi-asserted-by":"crossref","first-page":"369","DOI":"10.1016\/S0022-2836(02)00442-4","article-title":"Predicting changes in the stability of proteins and protein complexes: a study of more than 1000 mutations.","volume":"320","author":"Guerois","year":"2002","journal-title":"J Mol Biol"},{"key":"2019041116124879600_R22","doi-asserted-by":"crossref","first-page":"W382","DOI":"10.1093\/nar\/gki387","article-title":"The FoldX web server: an online force field","volume":"33","author":"Schymkowitz","year":"2005","journal-title":"Nucleic Acids Res"},{"key":"2019041116124879600_R23","doi-asserted-by":"crossref","first-page":"2714","DOI":"10.1002\/elps.1150181505","article-title":"SWISS-MODEL and the Swiss-PdbViewer: an environment for comparative protein modeling.","volume":"18","author":"Guex","year":"1997","journal-title":"Electrophoresis"},{"key":"2019041116124879600_R24","author":"DeLano","year":"2006"},{"key":"2019041116124879600_R25","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1186\/1471-2350-7-1","article-title":"Mutation analysis of SDHB and SDHC: novel germline mutations in sporadic head and neck paraganglioma and familial paraganglioma and\/or pheochromocytoma","volume":"7","author":"Bayley","year":"2006","journal-title":"BMC Med Genet"},{"key":"2019041116124879600_R26","doi-asserted-by":"crossref","first-page":"178","DOI":"10.1136\/jmg.39.3.178","article-title":"Prevalence of SDHB, SDHC, and SDHD germline mutations in clinic patients with head and neck paragangliomas.","volume":"39","author":"Baysal","year":"2002","journal-title":"J Med Genet"},{"key":"2019041116124879600_R27","doi-asserted-by":"crossref","first-page":"827","DOI":"10.1210\/jc.2005-1862","article-title":"Clinical presentation and penetrance of pheochromocytoma\/paraganglioma syndromes.","volume":"91","author":"Benn","year":"2006","journal-title":"J Clin Endocrinol Metab"},{"key":"2019041116124879600_R28","first-page":"2061","article-title":"Frequent germ-line succinate dehydrogenase subunit D gene mutations in patients with apparently sporadic parasympathetic paraganglioma.","volume":"8","author":"Dannenberg","year":"2002","journal-title":"Clin Cancer Res"},{"key":"2019041116124879600_R29","doi-asserted-by":"crossref","first-page":"943","DOI":"10.1001\/jama.292.8.943","article-title":"Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations.","volume":"292","author":"Neumann","year":"2004","journal-title":"JAMA"},{"key":"2019041116124879600_R30","doi-asserted-by":"crossref","first-page":"e99","DOI":"10.1136\/jmg.2003.011551","article-title":"The prevalence of SDHB, SDHC, and SDHD mutations in patients with head and neck paraganglioma and association of mutations with clinical features","volume":"41","author":"Badenhop","year":"2004","journal-title":"J Med Genet"},{"key":"2019041116124879600_R31","doi-asserted-by":"crossref","first-page":"617","DOI":"10.1136\/jmg.39.9.617","article-title":"Hereditary paraganglioma targets diverse paraganglia.","volume":"39","author":"Baysal","year":"2002","journal-title":"J Med Genet"},{"key":"2019041116124879600_R32","doi-asserted-by":"crossref","first-page":"274","DOI":"10.1002\/gcc.1144","article-title":"Nearly all hereditary paragangliomas in the Netherlands are caused by two founder mutations in the SDHD gene.","volume":"31","author":"Taschner","year":"2001","journal-title":"Genes Chromosomes Cancer"},{"key":"2019041116124879600_R33","doi-asserted-by":"crossref","first-page":"228","DOI":"10.1007\/s00439-003-0969-6","article-title":"Altitude is a phenotypic modifier in hereditary paraganglioma type 1: evidence for an oxygen-sensing defect.","volume":"113","author":"Astrom","year":"2003","journal-title":"Hum Genet"},{"key":"2019041116124879600_R34","doi-asserted-by":"crossref","first-page":"8812","DOI":"10.1200\/JCO.2005.03.1484","article-title":"Genetic testing in pheochromocytoma or functional paraganglioma.","volume":"23","author":"Amar","year":"2005","journal-title":"J Clin Oncol"},{"key":"2019041116124879600_R35","doi-asserted-by":"crossref","first-page":"39","DOI":"10.1186\/1471-2350-6-39","article-title":"The SDH mutation database: an online resource for succinate dehydrogenase sequence variants involved in pheochromocytoma, paraganglioma and mitochondrial complex II deficiency","volume":"6","author":"Bayley","year":"2005","journal-title":"BMC Med Genet"},{"key":"2019041116124879600_R36","first-page":"5615","article-title":"Mutations in the SDHB gene are associated with extra-adrenal and\/or malignant phaeochromocytomas.","volume":"63","author":"Gimenez-Roqueplo","year":"2003","journal-title":"Cancer Res"},{"key":"2019041116124879600_R37","doi-asserted-by":"crossref","first-page":"153","DOI":"10.1086\/381054","article-title":"Early-onset renal cell carcinoma as a novel extraparaganglial component of SDHB-associated heritable paraganglioma.","volume":"74","author":"Vanharanta","year":"2004","journal-title":"Am J Hum Genet"},{"key":"2019041116124879600_R38","doi-asserted-by":"crossref","first-page":"3822","DOI":"10.1210\/jc.2007-0709","article-title":"Succinate dehydrogenase B gene mutations predict survival in patients with malignant pheochromocytomas or paragangliomas.","volume":"92","author":"Amar","year":"2007","journal-title":"J Clin Endocrinol Metab"},{"key":"2019041116124879600_R39","doi-asserted-by":"crossref","first-page":"779","DOI":"10.1210\/jc.2006-2315","article-title":"Clinical presentations, biochemical phenotypes, and genotype-phenotype correlations in patients with succinate dehydrogenase subunit B-associated pheochromocytomas and paragangliomas.","volume":"92","author":"Timmers","year":"2007","journal-title":"J Clin Endocrinol Metab"},{"key":"2019041116124879600_R40","doi-asserted-by":"crossref","first-page":"4102","DOI":"10.1210\/jc.2002-020312","article-title":"Familial malignant catecholanine-secreting paraganglioma with prolonged survival associated with mutation in the succinate dehydrogenase B gene.","volume":"87","author":"Young","year":"2002","journal-title":"J Clin Endocrinol Metab"}],"container-title":["The Journal of Clinical Endocrinology & Metabolism"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/jcem\/article-pdf\/92\/12\/4853\/9055211\/jcem4853.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,4,12]],"date-time":"2019-04-12T01:43:22Z","timestamp":1555033402000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/jcem\/article\/92\/12\/4853\/2597788"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2007,12,1]]},"references-count":40,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2007,12,1]]}},"URL":"https:\/\/doi.org\/10.1210\/jc.2007-0640","relation":{},"ISSN":["0021-972X","1945-7197"],"issn-type":[{"value":"0021-972X","type":"print"},{"value":"1945-7197","type":"electronic"}],"subject":[],"published":{"date-parts":[[2007,12,1]]}}}