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Volumn 75, Issue 5, 2011, Pages 650-655

Mutations in SDHD are the major determinants of the clinical characteristics of Dutch head and neck paraganglioma patients

Author keywords

[No Author keywords available]

Indexed keywords

SUCCINATE DEHYDROGENASE;

EID: 80054737756     PISSN: 03000664     EISSN: 13652265     Source Type: Journal    
DOI: 10.1111/j.1365-2265.2011.04097.x     Document Type: Article
Times cited : (48)

References (37)
  • 1
    • 0019968970 scopus 로고
    • Carotid body tumors in humans: Genetics and epidemiology
    • Parry, D.M., Li, F.P., Strong, L.C., et al. (1982) Carotid body tumors in humans: genetics and epidemiology. Journal of the National Cancer Institute, 68, 573-578. (Pubitemid 12078840)
    • (1982) Journal of the National Cancer Institute , vol.68 , Issue.4 , pp. 573-578
    • Parry, D.M.1    Li, F.P.2    Strong, L.C.3
  • 2
    • 68549092478 scopus 로고    scopus 로고
    • The succinate dehydrogenase genetic testing in a large prospective series of patients with paragangliomas
    • Burnichon, N., Rohmer, V., Amar, L., et al. (2009) The succinate dehydrogenase genetic testing in a large prospective series of patients with paragangliomas. Journal of Clinical Endocrinology and Metabolism, 94, 2817-2827.
    • (2009) Journal of Clinical Endocrinology and Metabolism , vol.94 , pp. 2817-2827
    • Burnichon, N.1    Rohmer, V.2    Amar, L.3
  • 3
    • 66149098136 scopus 로고    scopus 로고
    • Clinically guided genetic screening in a large cohort of Italian patients with pheochromocytomas and/or functional or nonfunctional paragangliomas
    • Mannelli, M., Castellano, M., Schiavi, F., et al. (2009) Clinically guided genetic screening in a large cohort of Italian patients with pheochromocytomas and/or functional or nonfunctional paragangliomas. Journal of Clinical Endocrinology and Metabolism, 94, 1541-1547.
    • (2009) Journal of Clinical Endocrinology and Metabolism , vol.94 , pp. 1541-1547
    • Mannelli, M.1    Castellano, M.2    Schiavi, F.3
  • 4
    • 66049145825 scopus 로고    scopus 로고
    • Clinical predictors for germline mutations in head and neck paraganglioma patients: Cost reduction strategy in genetic diagnostic process as fall-out
    • Neumann, H.P., Erlic, Z., Boedeker, C.C., et al. (2009) Clinical predictors for germline mutations in head and neck paraganglioma patients: cost reduction strategy in genetic diagnostic process as fall-out. Cancer Research, 69, 3650-3656.
    • (2009) Cancer Research , vol.69 , pp. 3650-3656
    • Neumann, H.P.1    Erlic, Z.2    Boedeker, C.C.3
  • 5
    • 16544392925 scopus 로고    scopus 로고
    • 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., et al. (2004) The prevalence of SDHB, SDHC, and SDHD mutations in patients with head and neck paraganglioma and association of mutations with clinical features. Journal of Medical Genetics, 41, e99.
    • (2004) Journal of Medical Genetics , vol.41
    • Badenhop, R.F.1    Jansen, J.C.2    Fagan, P.A.3
  • 6
    • 70350217774 scopus 로고    scopus 로고
    • Clinical predictors and algorithm for the genetic diagnosis of pheochromocytoma patients
    • Erlic, Z., Rybicki, L., Peczkowska, M., et al. (2009) Clinical predictors and algorithm for the genetic diagnosis of pheochromocytoma patients. Clinical Cancer Research, 15, 6378-6385.
    • (2009) Clinical Cancer Research , vol.15 , pp. 6378-6385
    • Erlic, Z.1    Rybicki, L.2    Peczkowska, M.3
  • 10
    • 0033767445 scopus 로고    scopus 로고
    • Mutations in SDHC cause autosomal dominant paraganglioma, type 3
    • Niemann, S., &, Muller, U., (2000) Mutations in SDHC cause autosomal dominant paraganglioma, type 3. Nature Genetics, 26, 268-270.
    • (2000) Nature Genetics , vol.26 , pp. 268-270
    • Niemann, S.1    Muller, U.2
  • 11
    • 0028809123 scopus 로고
    • Fine mapping of a putatively imprinted gene for familial nonchromaffin paragangliomas to chromosome 11q13.1 - Evidence for genetic-heterogeneity
    • Mariman, E.C.M., Vanbeersum, S.E.C., Cremers, C.W.R.J., et al. (1995) Fine mapping of a putatively imprinted gene for familial nonchromaffin paragangliomas to chromosome 11q13.1-evidence for genetic-heterogeneity. Human Genetics, 95, 56-62.
    • (1995) Human Genetics , vol.95 , pp. 56-62
    • Mariman, E.C.M.1    Vanbeersum, S.E.C.2    Cremers, C.W.R.J.3
  • 12
    • 69549088424 scopus 로고    scopus 로고
    • SDH5, a gene required for flavination of succinate dehydrogenase, is mutated in paraganglioma
    • Hao, H.X., Khalimonchuk, O., Schraders, M., et al. (2009) SDH5, a gene required for flavination of succinate dehydrogenase, is mutated in paraganglioma. Science, 325, 1139-1142.
    • (2009) Science , vol.325 , pp. 1139-1142
    • Hao, H.X.1    Khalimonchuk, O.2    Schraders, M.3
  • 13
    • 77958164441 scopus 로고    scopus 로고
    • SDHA is a tumor suppressor gene causing paraganglioma
    • Burnichon, N., Briere, J.J., Libe, R., et al. (2010) SDHA is a tumor suppressor gene causing paraganglioma. Human Molecular Genetics, 19, 3011-3020.
    • (2010) Human Molecular Genetics , vol.19 , pp. 3011-3020
    • Burnichon, N.1    Briere, J.J.2    Libe, R.3
  • 14
    • 66749179952 scopus 로고    scopus 로고
    • Head and neck paragangliomas in von Hippel-Lindau disease and multiple endocrine neoplasia type 2
    • Boedeker, C.C., Erlic, Z., Richard, S., et al. (2009) Head and neck paragangliomas in von Hippel-Lindau disease and multiple endocrine neoplasia type 2. Journal of Clinical Endocrinology and Metabolism, 94, 1938-1944.
    • (2009) Journal of Clinical Endocrinology and Metabolism , vol.94 , pp. 1938-1944
    • Boedeker, C.C.1    Erlic, Z.2    Richard, S.3
  • 17
    • 79251468798 scopus 로고    scopus 로고
    • SDHAF2 (PGL2-SDH5) and hereditary head and neck paraganglioma
    • Kunst, H.P., Rutten, M.H., De Monnink, J.P., et al. (2011) SDHAF2 (PGL2-SDH5) and hereditary head and neck paraganglioma. Clinical Cancer Research, 17, 247-254.
    • (2011) Clinical Cancer Research , vol.17 , pp. 247-254
    • Kunst, H.P.1    Rutten, M.H.2    De Monnink, J.P.3
  • 21
    • 33751528825 scopus 로고    scopus 로고
    • High frequency of SDHB germline mutations in patients with malignant catecholamine-producing paragangliomas: Implications for genetic testing
    • DOI 10.1210/jc.2006-0423
    • Brouwers, F.M., Eisenhofer, G., Tao, J.J., et al. (2006) High frequency of SDHB germline mutations in patients with malignant catecholamine-producing paragangliomas: implications for genetic testing. Journal of Clinical Endocrinology and Metabolism, 91, 4505-4509. (Pubitemid 44833431)
    • (2006) Journal of Clinical Endocrinology and Metabolism , vol.91 , Issue.11 , pp. 4505-4509
    • Brouwers, F.M.1    Eisenhofer, G.2    Tao, J.J.3    Kant, J.A.4    Adams, K.T.5    Linehan, W.M.6    Pacak, K.7
  • 24
    • 79961078944 scopus 로고    scopus 로고
    • High prevalence of founder mutations of the succinate dehydrogenase genes in the Netherlands
    • doi:. [Epub ahead of print].
    • Hensen, E.F., van Duinen N., Jansen, J.C., et al. (2011) High prevalence of founder mutations of the succinate dehydrogenase genes in the Netherlands. Clinical Genetics, doi:. [Epub ahead of print].
    • (2011) Clinical Genetics
    • Hensen, E.F.1    Van Duinen, N.2    Jansen, J.C.3
  • 26
    • 0042566135 scopus 로고    scopus 로고
    • Altitude is a phenotypic modifier in hereditary paraganglioma type 1: Evidence for an oxygen-sensing defect
    • DOI 10.1007/s00439-003-0969-6
    • Astrom, K., Cohen, J.E., Willett-Brozick, J.E., et al. (2003) Altitude is a phenotypic modifier in hereditary paraganglioma type 1: evidence for an oxygen-sensing defect. Human Genetics, 113, 228-237. (Pubitemid 36992281)
    • (2003) Human Genetics , vol.113 , Issue.3 , pp. 228-237
    • Astrom, K.1    Cohen, J.E.2    Willett-Brozick, J.E.3    Aston, C.E.4    Baysal, B.E.5
  • 27
    • 77953449767 scopus 로고    scopus 로고
    • Relevance of germline mutation screening in both familial and sporadic head and neck paraganglioma for early diagnosis and clinical management
    • Hermsen, M.A., Sevilla, M.A., Llorente, J.L., et al. (2010) Relevance of germline mutation screening in both familial and sporadic head and neck paraganglioma for early diagnosis and clinical management. Cell Oncology, 32, 275-283.
    • (2010) Cell Oncology , vol.32 , pp. 275-283
    • Hermsen, M.A.1    Sevilla, M.A.2    Llorente, J.L.3
  • 28
    • 74049144943 scopus 로고    scopus 로고
    • Tumor risks and genotype-phenotype-proteotype analysis in 358 patients with germline mutations in SDHB and SDHD
    • Ricketts, C.J., Forman, J.R., Rattenberry, E., et al. (2010) Tumor risks and genotype-phenotype-proteotype analysis in 358 patients with germline mutations in SDHB and SDHD. Human Mutation, 31, 41-51.
    • (2010) Human Mutation , vol.31 , pp. 41-51
    • Ricketts, C.J.1    Forman, J.R.2    Rattenberry, E.3
  • 32
    • 77950342008 scopus 로고    scopus 로고
    • SDHAF2 mutations in familial and sporadic paraganglioma and phaeochromocytoma
    • Bayley, J.P., Kunst, H.P., Cascon, A., et al. (2010) SDHAF2 mutations in familial and sporadic paraganglioma and phaeochromocytoma. The Lancet Oncology, 11, 366-372.
    • (2010) The Lancet Oncology , vol.11 , pp. 366-372
    • Bayley, J.P.1    Kunst, H.P.2    Cascon, A.3
  • 33
    • 0019522666 scopus 로고
    • Familial non-chromaffinic paragangliomas (glomus tumors): Clinical aspects
    • van Baars, F., van den Broek, P., Cremers, C., et al. (1981) Familial non-chromaffinic paragangliomas (glomus tumors)-clinical aspects. The Laryngoscope, 91, 988-996. (Pubitemid 11111072)
    • (1981) Laryngoscope , vol.91 , Issue.6 , pp. 988-996
    • Van Baars, F.1    Van Den Broek, P.2    Cremers, C.3    Veldman, J.4
  • 35
    • 67949121868 scopus 로고    scopus 로고
    • Similar gene expression profiles of sporadic, PGL2-, and SDHD-linked paragangliomas suggest a common pathway to tumorigenesis
    • Hensen, E.F., Goeman, J.J., Oosting, J., et al. (2009) Similar gene expression profiles of sporadic, PGL2-, and SDHD-linked paragangliomas suggest a common pathway to tumorigenesis. BMC Medical Genomics, 2, 25.
    • (2009) BMC Medical Genomics , vol.2 , pp. 25
    • Hensen, E.F.1    Goeman, J.J.2    Oosting, J.3
  • 36
    • 77953303985 scopus 로고    scopus 로고
    • Low penetrance of a SDHB mutation in a large Dutch paraganglioma family
    • Hes, F.J., Weiss, M.M., Woortman, S.A., et al. (2010) Low penetrance of a SDHB mutation in a large Dutch paraganglioma family. BMC Medical Genetics, 11, 92.
    • (2010) BMC Medical Genetics , vol.11 , pp. 92
    • Hes, F.J.1    Weiss, M.M.2    Woortman, S.A.3
  • 37
    • 31344478803 scopus 로고    scopus 로고
    • Mutation analysis of SDHB and SDHC: Novel germline mutations in sporadic head and neck paraganglioma and familial paraganglioma and/or pheochromocytoma
    • Bayley, J.P., van Minderhout, I.J.H.M., Weiss, M.M., et al. (2006) Mutation analysis of SDHB and SDHC: novel germline mutations in sporadic head and neck paraganglioma and familial paraganglioma and/or pheochromocytoma. BMC Medical Genetics, 7, 1.
    • (2006) BMC Medical Genetics , vol.7 , pp. 1
    • Bayley, J.P.1    Van Minderhout, I.J.H.M.2    Weiss, M.M.3


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