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SDHD mutations in head and neck paragangliomas result in destabilization of complex II in the mitochondrial respiratory chain with loss of enzymatic activity and abnormal mitochondrial morphology.
Douwes Dekker PB, Hogendoorn PC, Kuipers-Dijkshoorn N, Prins FA, van Duinen SG, Taschner PE, van der Mey AG, Cornelisse CJ. Douwes Dekker PB, et al. Among authors: taschner pe. J Pathol. 2003 Nov;201(3):480-6. doi: 10.1002/path.1461. J Pathol. 2003. PMID: 14595761
Mutation analysis of SDHB and SDHC: novel germline mutations in sporadic head and neck paraganglioma and familial paraganglioma and/or pheochromocytoma.
Bayley JP, van Minderhout I, Weiss MM, Jansen JC, Oomen PH, Menko FH, Pasini B, Ferrando B, Wong N, Alpert LC, Williams R, Blair E, Devilee P, Taschner PE. Bayley JP, et al. Among authors: taschner pe. BMC Med Genet. 2006 Jan 11;7:1. doi: 10.1186/1471-2350-7-1. BMC Med Genet. 2006. PMID: 16405730 Free PMC article.
Sdhd and SDHD/H19 knockout mice do not develop paraganglioma or pheochromocytoma.
Bayley JP, van Minderhout I, Hogendoorn PC, Cornelisse CJ, van der Wal A, Prins FA, Teppema L, Dahan A, Devilee P, Taschner PE. Bayley JP, et al. Among authors: taschner pe. PLoS One. 2009 Nov 24;4(11):e7987. doi: 10.1371/journal.pone.0007987. PLoS One. 2009. PMID: 19956719 Free PMC article.
Increased prevalence of catecholamine excess and phaeochromocytomas in a well-defined Dutch population with SDHD-linked head and neck paragangliomas.
van Houtum WH, Corssmit EP, Douwes Dekker PB, Jansen JC, van der Mey AG, Bröcker-Vriends AH, Taschner PE, Losekoot M, Frölich M, Stokkel MP, Cornelisse CJ, Romijn JA. van Houtum WH, et al. Among authors: taschner pe. Eur J Endocrinol. 2005 Jan;152(1):87-94. doi: 10.1530/eje.1.01833. Eur J Endocrinol. 2005. PMID: 15762191
Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma.
Baysal BE, Ferrell RE, Willett-Brozick JE, Lawrence EC, Myssiorek D, Bosch A, van der Mey A, Taschner PE, Rubinstein WS, Myers EN, Richard CW 3rd, Cornelisse CJ, Devilee P, Devlin B. Baysal BE, et al. Among authors: taschner pe. Science. 2000 Feb 4;287(5454):848-51. doi: 10.1126/science.287.5454.848. Science. 2000. PMID: 10657297
82 results