-
1
-
-
0036164438
-
Pheochromocytoma
-
Bravo EL: Pheochromocytoma. Cardiol Rev 2002; 10: 44-50.
-
(2002)
Cardiol Rev
, vol.10
, pp. 44-50
-
-
Bravo, E.L.1
-
2
-
-
84855940667
-
Genetics and clinical characteristics of hereditary pheochromocytomas and paragangliomas
-
Welander J, Soderkvist P, Gimm O: Genetics and clinical characteristics of hereditary pheochromocytomas and paragangliomas. Endocr Relat Cancer 2011; 18:R253-R276.
-
(2011)
Endocr Relat Cancer
, vol.18
, pp. R253-R276
-
-
Welander, J.1
Soderkvist, P.2
Gimm, O.3
-
3
-
-
69549088424
-
SDH5, a gene required for flavination of succinate dehydrogenase, is mutated in paraganglioma
-
Hao HX, Khalimonchuk O, Schraders M, Dephoure N, Bayley JP, Kunst H, Devilee P, Cremers CW, Schiffman JD, Bentz BG, Gygi SP, Winge DR, Kremer H, Rutter J: SDH5, a gene required for flavination of succinate dehydrogenase, is mutated in paraganglioma. Science 2009; 325: 1139-1142.
-
(2009)
Science
, vol.325
, pp. 1139-1142
-
-
Hao, H.X.1
Khalimonchuk, O.2
Schraders, M.3
Dephoure, N.4
Bayley, J.P.5
Kunst, H.6
Devilee, P.7
Cremers, C.W.8
Schiffman, J.D.9
Bentz, B.G.10
Gygi, S.P.11
Winge, D.R.12
Kremer, H.13
Rutter, J.14
-
4
-
-
77958164441
-
SDHA is a tumor suppressor gene causing paraganglioma
-
Burnichon N, Briere JJ, Libe R, Vescovo L, Riviere J, Tissier F, Jouanno E, Jeunemaitre X, Benit P, Tzagoloff A, Rustin P, Bertherat J, Favier J, Gimenez-Roqueplo AP: SDHA is a tumor suppressor gene causing paraganglioma. Hum Mol Genet 2010; 19: 3011-3020.
-
(2010)
Hum Mol Genet
, vol.19
, pp. 3011-3020
-
-
Burnichon, N.1
Briere, J.J.2
Libe, R.3
Vescovo, L.4
Riviere, J.5
Tissier, F.6
Jouanno, E.7
Jeunemaitre, X.8
Benit, P.9
Tzagoloff, A.10
Rustin, P.11
Bertherat, J.12
Favier, J.13
Gimenez-Roqueplo, A.P.14
-
5
-
-
77649175595
-
Germline mutations in TMEM127 confer susceptibility to pheochromocytoma
-
Qin Y, Yao L, King EE, Buddavarapu K, Lenci RE, Chocron ES, Lechleiter JD, Sass M, Aronin N, Schiavi F, Boaretto F, Opocher G, Toledo RA, Toledo SP, Stiles C, Aguiar RC, Dahia PL: Germline mutations in TMEM127 confer susceptibility to pheochromocytoma. Nat Genet 2010; 42: 229-233.
-
(2010)
Nat Genet
, vol.42
, pp. 229-233
-
-
Qin, Y.1
Yao, L.2
King, E.E.3
Buddavarapu, K.4
Lenci, R.E.5
Chocron, E.S.6
Lechleiter, J.D.7
Sass, M.8
Aronin, N.9
Schiavi, F.10
Boaretto, F.11
Opocher, G.12
Toledo, R.A.13
Toledo, S.P.14
Stiles, C.15
Aguiar, R.C.16
Dahia, P.L.17
-
6
-
-
79959752614
-
Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma
-
Comino-Mendez I, Gracia-Aznarez FJ, Schiavi F, et al: Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma. Nat Genet 2011; 43: 663-667.
-
(2011)
Nat Genet
, vol.43
, pp. 663-667
-
-
Comino-Mendez, I.1
Gracia-Aznarez, F.J.2
Schiavi, F.3
-
7
-
-
33646709396
-
Evolving concepts in pheochromocytoma and paraganglioma
-
Dahia PL: Evolving concepts in pheochromocytoma and paraganglioma. Curr Opin Oncol 2006; 18: 1-8 .
-
(2006)
Curr Opin Oncol
, vol.18
, pp. 1-8
-
-
Dahia, P.L.1
-
8
-
-
0036805853
-
Cytopathies involving mitochondrial complex II
-
Ackrell BA: Cytopathies involving mitochondrial complex II. Mol Aspects Med 2002; 23: 369-384.
-
(2002)
Mol Aspects Med
, vol.23
, pp. 369-384
-
-
Ackrell, B.A.1
-
9
-
-
28544446058
-
Mitochondrial tumour suppressors: A genetic and biochemical update
-
Gottlieb E, Tomlinson IP: Mitochondrial tumour suppressors: a genetic and biochemical update. Nat Rev Cancer 2005; 5: 857-866 .
-
(2005)
Nat Rev Cancer
, vol.5
, pp. 857-866
-
-
Gottlieb, E.1
Tomlinson, I.P.2
-
10
-
-
0034602950
-
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: Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma. Science 2000; 287: 848-851.
-
(2000)
Science
, vol.287
, pp. 848-851
-
-
Baysal, B.E.1
Ferrell, R.E.2
Willett-Brozick, J.E.3
Lawrence, E.C.4
Myssiorek, D.5
Bosch, A.6
Van Der Mey, A.7
Taschner, P.E.8
Rubinstein, W.S.9
Myers, E.N.10
Richard, C.W.11
Cornelisse, C.J.12
Devilee, P.13
Devlin, B.14
-
11
-
-
0033767445
-
Mutations in SDHC cause autosomal dominant paraganglioma, type 3
-
Niemann S, Muller U: Mutations in SDHC cause autosomal dominant paraganglioma, type 3. Nat Genet 2000; 26: 268-270 .
-
(2000)
Nat Genet
, vol.26
, pp. 268-270
-
-
Niemann, S.1
Muller, U.2
-
12
-
-
0034964421
-
Gene mutations in the succinate dehydrogenase subunit SDHB cause susceptibility to familial pheochromocytoma and to familial paraganglioma
-
Astuti D, Latif F, Dallol A, Dahia PL, Douglas F, George E, Skoldberg F, Husebye ES, Eng C, Maher ER: Gene mutations in the succinate dehydrogenase subunit SDHB cause susceptibility to familial pheochromocytoma and to familial paraganglioma. Am J Hum Genet 2001; 69: 49-54.
-
(2001)
Am J Hum Genet
, vol.69
, pp. 49-54
-
-
Astuti, D.1
Latif, F.2
Dallol, A.3
Dahia, P.L.4
Douglas, F.5
George, E.6
Skoldberg, F.7
Husebye, E.S.8
Eng, C.9
Maher, E.R.10
-
13
-
-
84860834761
-
An update on the genetics of paraganglioma, pheochromocytoma, and associated hereditary syndromes
-
Gimenez-Roqueplo AP, Dahia PL, Robledo M: An update on the genetics of paraganglioma, pheochromocytoma, and associated hereditary syndromes. Horm Metab Res 2012; 44: 328-333 .
-
(2012)
Horm Metab Res
, vol.44
, pp. 328-333
-
-
Gimenez-Roqueplo, A.P.1
Dahia, P.L.2
Robledo, M.3
-
14
-
-
4143105824
-
Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations
-
Neumann HP, Pawlu C, Peczkowska M, Bausch B, McWhinney SR, Muresan M, Buchta M, Franke G, Klisch J, Bley TA, Hoegerle S, Boedeker CC, Opocher G, Schipper J, Januszewicz A, Eng C: Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations. JAMA 2004; 292: 943-951 .
-
(2004)
JAMA
, vol.292
, pp. 943-951
-
-
Neumann, H.P.1
Pawlu, C.2
Peczkowska, M.3
Bausch, B.4
McWhinney, S.R.5
Muresan, M.6
Buchta, M.7
Franke, G.8
Klisch, J.9
Bley, T.A.10
Hoegerle, S.11
Boedeker, C.C.12
Opocher, G.13
Schipper, J.14
Januszewicz, A.15
Eng, C.16
-
15
-
-
27244446452
-
Predictors and prevalence of paraganglioma syndrome associated with mutations of the SDHC gene
-
Schiavi F, Boedeker CC, Bausch B, et al: Predictors and prevalence of paraganglioma syndrome associated with mutations of the SDHC gene. JAMA 2005; 294: 2057-2063 .
-
(2005)
JAMA
, vol.294
, pp. 2057-2063
-
-
Schiavi, F.1
Boedeker, C.C.2
Bausch, B.3
-
16
-
-
33644822473
-
Clinical presentation and penetrance of pheochromocytoma/ paraganglioma syndromes
-
Benn DE, Gimenez-Roqueplo AP, Reilly JR, Bertherat J, Burgess J, Byth K, Croxson M, Dahia PL, Elston M, Gimm O, Henley D, Herman P, Murday V, Niccoli-Sire P, Pasieka JL, Rohmer V, Tucker K, Jeunemaitre X, Marsh DJ, Plouin PF, Robinson BG: Clinical presentation and penetrance of pheochromocytoma/ paraganglioma syndromes. J Clin Endocrinol Metab 2006; 91: 827-836.
-
(2006)
J Clin Endocrinol Metab
, vol.91
, pp. 827-836
-
-
Benn, D.E.1
Gimenez-Roqueplo, A.P.2
Reilly, J.R.3
Bertherat, J.4
Burgess, J.5
Byth, K.6
Croxson, M.7
Dahia, P.L.8
Elston, M.9
Gimm, O.10
Henley, D.11
Herman, P.12
Murday, V.13
Niccoli-Sire, P.14
Pasieka, J.L.15
Rohmer, V.16
Tucker, K.17
Jeunemaitre, X.18
Marsh, D.J.19
Plouin, P.F.20
Robinson, B.G.21
more..
-
17
-
-
40749093679
-
Mutations associated with succinate dehydrogenase D-related malignant paragangliomas
-
Timmers HJ, Pacak K, Bertherat J, Lenders JW, Duet M, Eisenhofer G, Stratakis CA, Niccoli-Sire P, Tran BH, Burnichon N, Gimenez-Roqueplo AP: Mutations associated with succinate dehydrogenase D-related malignant paragangliomas. Clin Endocrinol (Oxf) 2008; 68: 561-566.
-
(2008)
Clin Endocrinol (Oxf)
, vol.68
, pp. 561-566
-
-
Timmers, H.J.1
Pacak, K.2
Bertherat, J.3
Lenders, J.W.4
Duet, M.5
Eisenhofer, G.6
Stratakis, C.A.7
Niccoli-Sire, P.8
Tran, B.H.9
Burnichon, N.10
Gimenez-Roqueplo, A.P.11
-
18
-
-
68549092478
-
The succinate dehydrogenase genetic testing in a large prospective series of patients with paragangliomas
-
Burnichon N, Rohmer V, Amar L, Herman P, Leboulleux S, Darrouzet V, Niccoli P, Gaillard D, Chabrier G, Chabolle F, Coupier I, Thieblot P, Lecomte P, Bertherat J, Wion-Barbot N, Murat A, Venisse A, Plouin PF, Jeunemaitre X, Gimenez-Roqueplo AP: The succinate dehydrogenase genetic testing in a large prospective series of patients with paragangliomas. J Clin Endocrinol Metab 2009; 94: 2817-2827 .
-
(2009)
J Clin Endocrinol Metab
, vol.94
, pp. 2817-2827
-
-
Burnichon, N.1
Rohmer, V.2
Amar, L.3
Herman, P.4
Leboulleux, S.5
Darrouzet, V.6
Niccoli, P.7
Gaillard, D.8
Chabrier, G.9
Chabolle, F.10
Coupier, I.11
Thieblot, P.12
Lecomte, P.13
Bertherat, J.14
Wion-Barbot, N.15
Murat, A.16
Venisse, A.17
Plouin, P.F.18
Jeunemaitre, X.19
Gimenez-Roqueplo, A.P.20
more..
-
19
-
-
84858706936
-
A decade (2001-2010) of genetic testing for pheochromocytoma and paraganglioma
-
Buffet A, Venisse A, Nau V, Roncellin I, Boccio V, Le Pottier N, Boussion M, Travers C, Simian C, Burnichon N, Abermil N, Favier J, Jeunemaitre X, Gimenez-Roqueplo AP: A decade (2001-2010) of genetic testing for pheochromocytoma and paraganglioma. Horm Metab Res 2012; 44: 359-366 .
-
(2012)
Horm Metab Res
, vol.44
, pp. 359-366
-
-
Buffet, A.1
Venisse, A.2
Nau, V.3
Roncellin, I.4
Boccio, V.5
Le Pottier, N.6
Boussion, M.7
Travers, C.8
Simian, C.9
Burnichon, N.10
Abermil, N.11
Favier, J.12
Jeunemaitre, X.13
Gimenez-Roqueplo, A.P.14
-
20
-
-
83155168436
-
Molecular analysis of pheochromocytoma after maternal transmission of SDHD mutation elucidates mechanism of parentof-origin effect
-
Yeap PM, Tobias ES, Mavraki E, Fletcher A, Bradshaw N, Freel EM, Cooke A, Murday VA, Davidson HR, Perry CG, Lindsay RS: Molecular analysis of pheochromocytoma after maternal transmission of SDHD mutation elucidates mechanism of parentof-origin effect. J Clin Endocrinol Metab 2011; 96:E2009-E2013.
-
(2011)
J Clin Endocrinol Metab
, vol.96
, pp. E2009-E2013
-
-
Yeap, P.M.1
Tobias, E.S.2
Mavraki, E.3
Fletcher, A.4
Bradshaw, N.5
Freel, E.M.6
Cooke, A.7
Murday, V.A.8
Davidson, H.R.9
Perry, C.G.10
Lindsay, R.S.11
-
21
-
-
66049145825
-
Clinical predictors for germline mutations in head and neck paraganglioma patients: Cost reduction strategy in genetic diagnostic process as fall-out
-
Neumann HP, Erlic Z, Boedeker CC, et al: Clinical predictors for germline mutations in head and neck paraganglioma patients: cost reduction strategy in genetic diagnostic process as fall-out. Cancer Res 2009; 69: 3650-3656 .
-
(2009)
Cancer Res
, vol.69
, pp. 3650-3656
-
-
Neumann, H.P.1
Erlic, Z.2
Boedeker, C.C.3
-
22
-
-
77952953844
-
Genetics of pheochromocytoma and paraganglioma: New developments
-
Pigny P, Cardot-Bauters C: Genetics of pheochromocytoma and paraganglioma: new developments. Ann Endocrinol (Paris) 2010; 71: 76-82 .
-
(2010)
Ann Endocrinol (Paris)
, vol.71
, pp. 76-82
-
-
Pigny, P.1
Cardot-Bauters, C.2
-
23
-
-
0036777993
-
SDHB mutation analysis in familial and sporadic phaeochromocytoma identifies a novel mutation
-
Cascon A, Cebrian A, Ruiz-Llorente S, Telleria D, Benitez J, Robledo M: SDHB mutation analysis in familial and sporadic phaeochromocytoma identifies a novel mutation. J Med Genet 2002; 39:E64 .
-
(2002)
J Med Genet
, vol.39
, pp. E64
-
-
Cascon, A.1
Cebrian, A.2
Ruiz-Llorente, S.3
Telleria, D.4
Benitez, J.5
Robledo, M.6
-
24
-
-
0036774422
-
Functional consequences of a SDHB gene mutation in an apparently sporadic pheochromocytoma
-
Gimenez-Roqueplo AP, Favier J, Rustin P, Rieubland C, Kerlan V, Plouin PF, Rotig A, Jeunemaitre X: Functional consequences of a SDHB gene mutation in an apparently sporadic pheochromocytoma. J Clin Endocrinol Metab 2002; 87: 4771-4774 .
-
(2002)
J Clin Endocrinol Metab
, vol.87
, pp. 4771-4774
-
-
Gimenez-Roqueplo, A.P.1
Favier, J.2
Rustin, P.3
Rieubland, C.4
Kerlan, V.5
Plouin, P.F.6
Rotig, A.7
Jeunemaitre, X.8
-
25
-
-
0141704510
-
Mutations in the SDHB gene are associated with extra-adrenal and/or malignant phaeochromocytomas
-
Gimenez-Roqueplo AP, Favier J, Rustin P, Rieubland C, Crespin M, Nau V, Khau Van Kien P, Corvol P, Plouin PF, Jeunemaitre X: Mutations in the SDHB gene are associated with extra-adrenal and/or malignant phaeochromocytomas. Cancer Res 2003; 63: 5615-5621 .
-
(2003)
Cancer Res
, vol.63
, pp. 5615-5621
-
-
Gimenez-Roqueplo, A.P.1
Favier, J.2
Rustin, P.3
Rieubland, C.4
Crespin, M.5
Nau, V.6
Khau Van Kien, P.7
Corvol, P.8
Plouin, P.F.9
Jeunemaitre, X.10
-
26
-
-
35348989206
-
Succinate dehydrogenase B gene mutations predict survival in patients with malignant pheochromocytomas or paragangliomas
-
Amar L, Baudin E, Burnichon N, Peyrard S, Silvera S, Bertherat J, Bertagna X, Schlumberger M, Jeunemaitre X, Gimenez-Roqueplo AP, Plouin PF: Succinate dehydrogenase B gene mutations predict survival in patients with malignant pheochromocytomas or paragangliomas. J Clin Endocrinol Metab 2007; 92: 3822-3828 .
-
(2007)
J Clin Endocrinol Metab
, vol.92
, pp. 3822-3828
-
-
Amar, L.1
Baudin, E.2
Burnichon, N.3
Peyrard, S.4
Silvera, S.5
Bertherat, J.6
Bertagna, X.7
Schlumberger, M.8
Jeunemaitre, X.9
Gimenez-Roqueplo, A.P.10
Plouin, P.F.11
-
27
-
-
51749113159
-
Germline SDHB mutations and familial renal cell carcinoma
-
Ricketts C, Woodward ER, Killick P, Morris MR, Astuti D, Latif F, Maher ER: Germline SDHB mutations and familial renal cell carcinoma. J Natl Cancer Inst 2008; 100: 1260-1262 .
-
(2008)
J Natl Cancer Inst
, vol.100
, pp. 1260-1262
-
-
Ricketts, C.1
Woodward, E.R.2
Killick, P.3
Morris, M.R.4
Astuti, D.5
Latif, F.6
Maher, E.R.7
-
28
-
-
67651198212
-
An immunohistochemical procedure to detect patients with paraganglioma and phaeochromocytoma with germline SDHB, SDHC, or SDHD gene mutations: A retrospective and prospective analysis
-
van Nederveen FH, Gaal J, Favier J, et al: An immunohistochemical procedure to detect patients with paraganglioma and phaeochromocytoma with germline SDHB, SDHC, or SDHD gene mutations: a retrospective and prospective analysis. Lancet Oncol 2009; 10: 764-771 .
-
(2009)
Lancet Oncol
, vol.10
, pp. 764-771
-
-
Van Nederveen, F.H.1
Gaal, J.2
Favier, J.3
-
29
-
-
77955594623
-
A HIF1alpha regulatory loop links hypoxia and mitochondrial signals in pheochromocytomas
-
Dahia PL, Ross KN, Wright ME, CY et al: A HIF1alpha regulatory loop links hypoxia and mitochondrial signals in pheochromocytomas. PLoS Genet 2005; 1: 72-80 .
-
(2005)
PLoS Genet
, vol.1
, pp. 72-80
-
-
Dahia, P.L.1
Ross, K.N.2
Wright, M.E.3
Et Al., C.Y.4
-
30
-
-
77950342008
-
SDHAF2 mutations in familial and sporadic paraganglioma and phaeochromocytoma
-
Bayley JP, Kunst HP, Cascon A, et al: SDHAF2 mutations in familial and sporadic paraganglioma and phaeochromocytoma. Lancet Oncol 2010; 11: 366-372 .
-
(2010)
Lancet Oncol
, vol.11
, pp. 366-372
-
-
Bayley, J.P.1
Kunst, H.P.2
Cascon, A.3
-
31
-
-
84860834761
-
An update on the genetics of paraganglioma, pheochromocytoma, and associated hereditary syndromes
-
Gimenez-Roqueplo AP, Dahia PL, Robledo M: An update on the genetics of paraganglioma, pheochromocytoma, and associated hereditary syndromes. Horm Metab Res 2012; 44: 328-333.
-
(2012)
Horm Metab Res
, vol.44
, pp. 328-333
-
-
Gimenez-Roqueplo, A.P.1
Dahia, P.L.2
Robledo, M.3
-
32
-
-
80052540617
-
SDHA immunohistochemistry detects germline SDHA gene mutations in apparently sporadic paragangliomas and pheochromocytomas
-
Korpershoek E, Favier J, Gaal J, Burnichon N, van Gessel B, Oudijk L, Badoual C, Gadessaud N, Venisse A, Bayley JP, van Dooren MF, de Herder WW, Tissier F, Plouin PF, van Nederveen FH, Dinjens WN, Gimenez-Roqueplo AP, de Krijger RR: SDHA immunohistochemistry detects germline SDHA gene mutations in apparently sporadic paragangliomas and pheochromocytomas. J Clin Endocrinol Metab 2011; 96:E1472-E1476 .
-
(2011)
J Clin Endocrinol Metab
, vol.96
, pp. E1472-E1476
-
-
Korpershoek, E.1
Favier, J.2
Gaal, J.3
Burnichon, N.4
Van Gessel, B.5
Oudijk, L.6
Badoual, C.7
Gadessaud, N.8
Venisse, A.9
Bayley, J.P.10
Van Dooren, M.F.11
De Herder, W.W.12
Tissier, F.13
Plouin, P.F.14
Van Nederveen, F.H.15
Dinjens, W.N.16
Gimenez-Roqueplo, A.P.17
De Krijger, R.R.18
-
33
-
-
66849135214
-
The triad of paragangliomas, gastric stromal tumours and pulmonary chondromas (Carney triad), and the dyad of paragangliomas and gastric stromal sarcomas (Carney-Stratakis syndrome): Molecular genetics and clinical implications
-
Stratakis CA, Carney JA: The triad of paragangliomas, gastric stromal tumours and pulmonary chondromas (Carney triad), and the dyad of paragangliomas and gastric stromal sarcomas (Carney-Stratakis syndrome): molecular genetics and clinical implications. J Intern Med 2009; 266: 43-52.
-
(2009)
J Intern Med
, vol.266
, pp. 43-52
-
-
Stratakis, C.A.1
Carney, J.A.2
-
34
-
-
78651082042
-
Defects in succinate dehydrogenase in gastrointestinal stromal tumors lacking KIT and PDGFRA mutations
-
Janeway KA, Kim SY, Lodish M, Nose V, Rustin P, Gaal J, Dahia PL, Liegl B, Ball ER, Raygada M, Lai AH, Kelly L, Hornick JL, O'Sullivan M, de Krijger RR, Dinjens WN, Demetri GD, Antonescu CR, Fletcher JA, Helman L, Stratakis CA: Defects in succinate dehydrogenase in gastrointestinal stromal tumors lacking KIT and PDGFRA mutations. Proc Natl Acad Sci USA 2011; 108: 314-318 .
-
(2011)
Proc Natl Acad Sci USA
, vol.108
, pp. 314-318
-
-
Janeway, K.A.1
Kim, S.Y.2
Lodish, M.3
Nose, V.4
Rustin, P.5
Gaal, J.6
Dahia, P.L.7
Liegl, B.8
Ball, E.R.9
Raygada, M.10
Lai, A.H.11
Kelly, L.12
Hornick, J.L.13
O'sullivan, M.14
De Krijger, R.R.15
Dinjens, W.N.16
Demetri, G.D.17
Antonescu, C.R.18
Fletcher, J.A.19
Helman, L.20
Stratakis, C.A.21
more..
-
35
-
-
0035213138
-
The R22X mutation of the SDHD gene in hereditary paraganglioma abolishes the enzymatic activity of complex II in the mitochondrial respiratory chain and activates the hypoxia pathway
-
Gimenez-Roqueplo AP, Favier J, Rustin P, Mourad JJ, Plouin PF, Corvol P, Rotig A, Jeunemaitre X: The R22X mutation of the SDHD gene in hereditary paraganglioma abolishes the enzymatic activity of complex II in the mitochondrial respiratory chain and activates the hypoxia pathway. Am J Hum Genet 2001; 69: 1186-1197 .
-
(2001)
Am J Hum Genet
, vol.69
, pp. 1186-1197
-
-
Gimenez-Roqueplo, A.P.1
Favier, J.2
Rustin, P.3
Mourad, J.J.4
Plouin, P.F.5
Corvol, P.6
Rotig, A.7
Jeunemaitre, X.8
-
36
-
-
78649404935
-
Research resource: Transcriptional profiling reveals different pseudohypoxic signatures in SDHB and VHL-related pheochromocytomas
-
Lopez-Jimenez E, Gomez-Lopez G, Leandro-Garcia LJ, et al: Research resource: Transcriptional profiling reveals different pseudohypoxic signatures in SDHB and VHL-related pheochromocytomas. Mol Endocrinol 2010; 24: 2382-2391 .
-
(2010)
Mol Endocrinol
, vol.24
, pp. 2382-2391
-
-
Lopez-Jimenez, E.1
Gomez-Lopez, G.2
Leandro-Garcia, L.J.3
-
37
-
-
19944433653
-
Succinate links TCA cycle dysfunction to oncogenesis by inhibiting HIFalpha prolyl hydroxylase
-
Selak MA, Armour SM, Mackenzie ED, Boulahbel H, Watson DG, Mansfield KD, Pan Y, Simon MC, Thompson CB, Gottlieb E: Succinate links TCA cycle dysfunction to oncogenesis by inhibiting HIFalpha prolyl hydroxylase. Cancer Cell 2005; 7: 77-85.
-
(2005)
Cancer Cell
, vol.7
, pp. 77-85
-
-
Selak, M.A.1
Armour, S.M.2
Mackenzie, E.D.3
Boulahbel, H.4
Watson, D.G.5
Mansfield, K.D.6
Pan, Y.7
Simon, M.C.8
Thompson, C.B.9
Gottlieb, E.10
-
38
-
-
33746930794
-
Succinate dehydrogenase and fumarate hydratase: Linking mitochondrial dysfunction and cancer
-
King A, Selak MA, Gottlieb E: Succinate dehydrogenase and fumarate hydratase: linking mitochondrial dysfunction and cancer. Oncogene 2006; 25: 4675-4682 .
-
(2006)
Oncogene
, vol.25
, pp. 4675-4682
-
-
King, A.1
Selak, M.A.2
Gottlieb, E.3
-
39
-
-
0142166332
-
Targeting HIF-1 for cancer therapy
-
Semenza GL: Targeting HIF-1 for cancer therapy. Nat Rev Cancer 2003; 3: 721-732 .
-
(2003)
Nat Rev Cancer
, vol.3
, pp. 721-732
-
-
Semenza, G.L.1
-
40
-
-
23644448721
-
HIF overexpression correlates with biallelic loss of fumarate hydratase in renal cancer: Novel role of fumarate in regulation of HIF stability
-
Isaacs JS, Jung YJ, Mole DR, Lee S, Torres-Cabala C, Chung YL, Merino M, Trepel J, Zbar B, Toro J, Ratcliffe PJ, Linehan WM, Neckers L: HIF overexpression correlates with biallelic loss of fumarate hydratase in renal cancer: novel role of fumarate in regulation of HIF stability. Cancer Cell 2005; 8: 143-153 .
-
(2005)
Cancer Cell
, vol.8
, pp. 143-153
-
-
Isaacs, J.S.1
Jung, Y.J.2
Mole, D.R.3
Lee, S.4
Torres-Cabala, C.5
Chung, Y.L.6
Merino, M.7
Trepel, J.8
Zbar, B.9
Toro, J.10
Ratcliffe, P.J.11
Linehan, W.M.12
Neckers, L.13
-
41
-
-
36249005491
-
Succinate inhibition of {alpha}-ketoglutarate-dependent enzymes in a yeast model of paraganglioma
-
Smith EH, Janknecht R, Maher LJ 3rd: Succinate inhibition of {alpha}-ketoglutarate-dependent enzymes in a yeast model of paraganglioma. Hum Mol Genet 2007; 16: 3136-3148.
-
(2007)
Hum Mol Genet
, vol.16
, pp. 3136-3148
-
-
Smith, E.H.1
Janknecht, R.2
Maher, L.J.3
-
42
-
-
84862632865
-
Inhibition of alpha-KG-dependent histone and DNA demethylases by fumarate and succinate that are accumulated in mutations of FH and SDH tumor suppressors
-
Xiao M, Yang H, Xu W, Ma S, Lin H, Zhu H, Liu L, Liu Y, Yang C, Xu Y, Zhao S, Ye D, Xiong Y, Guan KL: Inhibition of alpha-KG-dependent histone and DNA demethylases by fumarate and succinate that are accumulated in mutations of FH and SDH tumor suppressors. Genes Dev 2012; 26: 1326-1338 .
-
(2012)
Genes Dev
, vol.26
, pp. 1326-1338
-
-
Xiao, M.1
Yang, H.2
Xu, W.3
Ma, S.4
Lin, H.5
Zhu, H.6
Liu, L.7
Liu, Y.8
Yang, C.9
Xu, Y.10
Zhao, S.11
Ye, D.12
Xiong, Y.13
Guan, K.L.14
-
43
-
-
49249127688
-
Cells silenced for SDHB expression display characteristic features of the tumor phenotype
-
Cervera AM, Apostolova N, Crespo FL, Mata M, McCreath KJ: Cells silenced for SDHB expression display characteristic features of the tumor phenotype. Cancer Res 2008; 68: 4058-4067 .
-
(2008)
Cancer Res
, vol.68
, pp. 4058-4067
-
-
Cervera, A.M.1
Apostolova, N.2
Crespo, F.L.3
Mata, M.4
McCreath, K.J.5
-
44
-
-
84861996762
-
Epithelial to mesenchymal transition is activated in metastatic pheochromocytomas and paragangliomas caused by SDHB gene mutations
-
Loriot C, Burnichon N, Gadessaud N, Vescovo L, Amar L, Libe R, Bertherat J, Plouin PF, Jeunemaitre X, Gimenez-Roqueplo AP, Favier J: Epithelial to mesenchymal transition is activated in metastatic pheochromocytomas and paragangliomas caused by SDHB gene mutations. J Clin Endocrinol Metab 2012; 97:E954-E962 .
-
(2012)
J Clin Endocrinol Metab
, vol.97
, pp. E954-E962
-
-
Loriot, C.1
Burnichon, N.2
Gadessaud, N.3
Vescovo, L.4
Amar, L.5
Libe, R.6
Bertherat, J.7
Plouin, P.F.8
Jeunemaitre, X.9
Gimenez-Roqueplo, A.P.10
Favier, J.11
-
45
-
-
78650200503
-
Spectrum and prevalence of FP/TMEM127 gene mutations in pheochromocytomas and paragangliomas
-
Yao L, Schiavi F, Cascon A, et al: Spectrum and prevalence of FP/TMEM127 gene mutations in pheochromocytomas and paragangliomas. JAMA 2010; 304: 2611-2619.
-
(2010)
JAMA
, vol.304
, pp. 2611-2619
-
-
Yao, L.1
Schiavi, F.2
Cascon, A.3
-
46
-
-
78751504432
-
A novel TMEM127 mutation in a patient with familial bilateral pheochromocytoma
-
Burnichon N, Lepoutre-Lussey C, Laffaire J, Gadessaud N, Molinie V, Hernigou A, Plouin PF, Jeunemaitre X, Favier J, Gimenez-Roqueplo AP: A novel TMEM127 mutation in a patient with familial bilateral pheochromocytoma. Eur J Endocrinol 2011; 164: 141-145 .
-
(2011)
Eur J Endocrinol
, vol.164
, pp. 141-145
-
-
Burnichon, N.1
Lepoutre-Lussey, C.2
Laffaire, J.3
Gadessaud, N.4
Molinie, V.5
Hernigou, A.6
Plouin, P.F.7
Jeunemaitre, X.8
Favier, J.9
Gimenez-Roqueplo, A.P.10
-
47
-
-
79960716090
-
Claudin family proteins in Caenorhabditis elegans
-
Simske JS, Hardin J: Claudin family proteins in Caenorhabditis elegans . Methods Mol Biol 2011; 762: 147-169 .
-
(2011)
Methods Mol Biol
, vol.762
, pp. 147-169
-
-
Simske, J.S.1
Hardin, J.2
-
48
-
-
84861140704
-
MAX mutations cause hereditary and sporadic pheochromocytoma and paraganglioma
-
Burnichon N, Cascon A, Schiavi F, et al: MAX mutations cause hereditary and sporadic pheochromocytoma and paraganglioma. Clin Cancer Res 2012; 18: 2828-2837 .
-
(2012)
Clin Cancer Res
, vol.18
, pp. 2828-2837
-
-
Burnichon, N.1
Cascon, A.2
Schiavi, F.3
-
49
-
-
84863605700
-
MAX and MYC: A Heritable Breakup
-
Cascon A, Robledo M: MAX and MYC: A Heritable Breakup. Cancer Res 2012 ;72:3119-3124.
-
(2012)
Cancer Res
, vol.72
, pp. 3119-3124
-
-
Cascon, A.1
Robledo, M.2
-
50
-
-
19944429270
-
Distinct gene expression profiles in norepinephrine-and epinephrine-producing hereditary and sporadic pheochromocytomas: Activation of hypoxia-driven angiogenic pathways in von Hippel-Lindau syndrome
-
Eisenhofer G, Huynh TT, Pacak K, Brouwers FM, Walther MM, Linehan WM, Munson PJ, Mannelli M, Goldstein DS, Elkahloun AG: Distinct gene expression profiles in norepinephrine-and epinephrine-producing hereditary and sporadic pheochromocytomas: activation of hypoxia-driven angiogenic pathways in von Hippel-Lindau syndrome. Endocr Relat Cancer 2004; 11: 897-911 .
-
(2004)
Endocr Relat Cancer
, vol.11
, pp. 897-911
-
-
Eisenhofer, G.1
Huynh, T.T.2
Pacak, K.3
Brouwers, F.M.4
Walther, M.M.5
Linehan, W.M.6
Munson, P.J.7
Mannelli, M.8
Goldstein, D.S.9
Elkahloun, A.G.10
-
51
-
-
80053139912
-
Integrative genomic analysis reveals somatic mutations in pheochromocytoma and paraganglioma
-
Burnichon N, Vescovo L, Amar L, Libe R, de Reynies A, Venisse A, Jouanno E, Laurendeau I, Parfait B, Bertherat J, Plouin PF, Jeunemaitre X, Favier J, Gimenez-Roqueplo AP: Integrative genomic analysis reveals somatic mutations in pheochromocytoma and paraganglioma. Hum Mol Genet 2011; 20: 3974-3985.
-
(2011)
Hum Mol Genet
, vol.20
, pp. 3974-3985
-
-
Burnichon, N.1
Vescovo, L.2
Amar, L.3
Libe, R.4
De Reynies, A.5
Venisse, A.6
Jouanno, E.7
Laurendeau, I.8
Parfait, B.9
Bertherat, J.10
Plouin, P.F.11
Jeunemaitre, X.12
Favier, J.13
Gimenez-Roqueplo, A.P.14
-
52
-
-
23644436667
-
Neuronal apoptosis linked to EglN3 prolyl hydroxylase and familial pheochromocytoma genes: Developmental culling and cancer
-
Lee S, Nakamura E, Yang H, Wei W, Linggi MS, Sajan MP, Farese RV, Freeman RS, Carter BD, Kaelin WG Jr, Schlisio S: Neuronal apoptosis linked to EglN3 prolyl hydroxylase and familial pheochromocytoma genes: developmental culling and cancer. Cancer Cell 2005; 8: 155-167.
-
(2005)
Cancer Cell
, vol.8
, pp. 155-167
-
-
Lee, S.1
Nakamura, E.2
Yang, H.3
Wei, W.4
Linggi, M.S.5
Sajan, M.P.6
Farese, R.V.7
Freeman, R.S.8
Carter, B.D.9
Kaelin, W.G.10
Schlisio, S.11
-
53
-
-
41649116940
-
The kinesin KIF1Bbeta acts downstream from EglN3 to induce apoptosis and is a potential 1p36 tumor suppressor
-
Schlisio S, Kenchappa RS, Vredeveld LC, George RE, Stewart R, Greulich H, Shahriari K, Nguyen NV, Pigny P, Dahia PL, Pomeroy SL, Maris JM, Look AT, Meyerson M, Peeper DS, Carter BD, Kaelin WG Jr: The kinesin KIF1Bbeta acts downstream from EglN3 to induce apoptosis and is a potential 1p36 tumor suppressor. Genes Dev 2008; 22: 884-893 .
-
(2008)
Genes Dev
, vol.22
, pp. 884-893
-
-
Schlisio, S.1
Kenchappa, R.S.2
Vredeveld, L.C.3
George, R.E.4
Stewart, R.5
Greulich, H.6
Shahriari, K.7
Nguyen, N.V.8
Pigny, P.9
Dahia, P.L.10
Pomeroy, S.L.11
Maris, J.M.12
Look, A.T.13
Meyerson, M.14
Peeper, D.S.15
Carter, B.D.16
Kaelin, W.G.17
-
54
-
-
53749107898
-
A germline mutation of the KIF1B beta gene on 1p36 in a family with neural and nonneural tumors
-
Yeh IT, Lenci RE, Qin Y, Buddavarapu K, Ligon AH, Leteurtre E, Do Cao C, Cardot-Bauters C, Pigny P, Dahia PL: A germline mutation of the KIF1B beta gene on 1p36 in a family with neural and nonneural tumors. Hum Genet 2008; 124: 279-285.
-
(2008)
Hum Genet
, vol.124
, pp. 279-285
-
-
Yeh, I.T.1
Lenci, R.E.2
Qin, Y.3
Buddavarapu, K.4
Ligon, A.H.5
Leteurtre, E.6
Do Cao, C.7
Cardot-Bauters, C.8
Pigny, P.9
Dahia, P.L.10
-
55
-
-
31444436640
-
A family with erythrocytosis establishes a role for prolyl hydroxylase domain protein 2 in oxygen homeostasis
-
Percy MJ, Zhao Q, Flores A, Harrison C, Lappin TR, Maxwell PH, McMullin MF, Lee FS: A family with erythrocytosis establishes a role for prolyl hydroxylase domain protein 2 in oxygen homeostasis. Proc Natl Acad Sci USA 2006; 103: 654-659.
-
(2006)
Proc Natl Acad Sci USA
, vol.103
, pp. 654-659
-
-
Percy, M.J.1
Zhao, Q.2
Flores, A.3
Harrison, C.4
Lappin, T.R.5
Maxwell, P.H.6
McMullin, M.F.7
Lee, F.S.8
-
56
-
-
58049215232
-
PHD2 mutation and congenital erythrocytosis with paraganglioma
-
Ladroue C, Carcenac R, Leporrier M, Gad S, Le Hello C, Galateau-Salle F, Feunteun J, Pouyssegur J, Richard S, Gardie B: PHD2 mutation and congenital erythrocytosis with paraganglioma. N Engl J Med 2008; 359: 2685-2692 .
-
(2008)
N Engl J Med
, vol.359
, pp. 2685-2692
-
-
Ladroue, C.1
Carcenac, R.2
Leporrier, M.3
Gad, S.4
Le Hello, C.5
Galateau-Salle, F.6
Feunteun, J.7
Pouyssegur, J.8
Richard, S.9
Gardie, B.10
-
57
-
-
0037046659
-
Germ-line mutations in nonsyndromic pheochromocytoma
-
Neumann HP, Bausch B, McWhinney SR, et al: Germ-line mutations in nonsyndromic pheochromocytoma. N Engl J Med 2002; 346: 1459-1466 .
-
(2002)
N Engl J Med
, vol.346
, pp. 1459-1466
-
-
Neumann, H.P.1
Bausch, B.2
McWhinney, S.R.3
-
58
-
-
77952777089
-
A current review of the etiology, diagnosis, and treatment of pediatric pheochromocytoma and paraganglioma
-
Waguespack SG, Rich T, Grubbs E, Ying AK, Perrier ND, Ayala-Ramirez M, Jimenez C: A current review of the etiology, diagnosis, and treatment of pediatric pheochromocytoma and paraganglioma. J Clin Endocrinol Metab 2010; 95: 2023-2037 .
-
(2010)
J Clin Endocrinol Metab
, vol.95
, pp. 2023-2037
-
-
Waguespack, S.G.1
Rich, T.2
Grubbs, E.3
Ying, A.K.4
Perrier, N.D.5
Ayala-Ramirez, M.6
Jimenez, C.7
-
59
-
-
75149174167
-
Pathogenicity of DNA variants and double mutations in multiple endocrine neoplasia type 2 and von Hippel-Lindau syndrome
-
Erlic Z, Hoffmann MM, Sullivan M, Franke G, Peczkowska M, Harsch I, Schott M, Gabbert HE, Valimaki M, Preuss SF, Hasse-Lazar K, Waligorski D, Robledo M, Januszewicz A, Eng C, Neumann HP: Pathogenicity of DNA variants and double mutations in multiple endocrine neoplasia type 2 and von Hippel-Lindau syndrome. J Clin Endocrinol Metab 2010; 95: 308-313 .
-
(2010)
J Clin Endocrinol Metab
, vol.95
, pp. 308-313
-
-
Erlic, Z.1
Hoffmann, M.M.2
Sullivan, M.3
Franke, G.4
Peczkowska, M.5
Harsch, I.6
Schott, M.7
Gabbert, H.E.8
Valimaki, M.9
Preuss, S.F.10
Hasse-Lazar, K.11
Waligorski, D.12
Robledo, M.13
Januszewicz, A.14
Eng, C.15
Neumann, H.P.16
-
60
-
-
66149098136
-
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: Clinically guided genetic screening in a large cohort of Italian patients with pheochromocytomas and/or functional or nonfunctional paragangliomas. J Clin Endocrinol Metab 2009; 94: 1541-1547 .
-
(2009)
J Clin Endocrinol Metab
, vol.94
, pp. 1541-1547
-
-
Mannelli, M.1
Castellano, M.2
Schiavi, F.3
-
61
-
-
77955059918
-
Genetic diagnosis of familial breast cancer using clonal sequencing
-
Morgan JE, Carr IM, Sheridan E, Chu CE, Hayward B, Camm N, Lindsay HA, Mattocks CJ, Markham AF, Bonthron DT, Taylor GR: Genetic diagnosis of familial breast cancer using clonal sequencing. Hum Mutat 2010; 31: 484-491 .
-
(2010)
Hum Mutat
, vol.31
, pp. 484-491
-
-
Morgan, J.E.1
Carr, I.M.2
Sheridan, E.3
Chu, C.E.4
Hayward, B.5
Camm, N.6
Lindsay, H.A.7
Mattocks, C.J.8
Markham, A.F.9
Bonthron, D.T.10
Taylor, G.R.11
-
62
-
-
84861329707
-
Clinical benefits of systemic chemotherapy for patients with metastatic pheochromocytomas or sympathetic extra-adrenal paragangliomas: Insights from the largest single-institutional experience
-
Ayala-Ramirez M, Feng L, Habra MA, Rich T, Dickson PV, Perrier N, Phan A, Waguespack S, Patel S, Jimenez C: Clinical benefits of systemic chemotherapy for patients with metastatic pheochromocytomas or sympathetic extra-adrenal paragangliomas: insights from the largest single-institutional experience. Cancer 2012; 118: 2804-2812 .
-
(2012)
Cancer
, vol.118
, pp. 2804-2812
-
-
Ayala-Ramirez, M.1
Feng, L.2
Habra, M.A.3
Rich, T.4
Dickson, P.V.5
Perrier, N.6
Phan, A.7
Waguespack, S.8
Patel, S.9
Jimenez, C.10
-
63
-
-
84858703889
-
Long-term postoperative follow-up in patients with apparently benign pheochromocytoma and paraganglioma
-
Amar L, Fassnacht M, Gimenez-Roqueplo AP, Januszewicz A, Prejbisz A, Timmers H, Plouin PF: Long-term postoperative follow-up in patients with apparently benign pheochromocytoma and paraganglioma. Horm Metab Res 2012; 44: 385-389 .
-
(2012)
Horm Metab Res
, vol.44
, pp. 385-389
-
-
Amar, L.1
Fassnacht, M.2
Gimenez-Roqueplo, A.P.3
Januszewicz, A.4
Prejbisz, A.5
Timmers, H.6
Plouin, P.F.7
-
64
-
-
84858705282
-
Rationale for antiangiogenic therapy in pheochromocytoma and paraganglioma
-
Favier J, Igaz P, Burnichon N, Amar L, Libe R, Badoual C, Tissier F, Bertherat J, Plouin PF, Jeunemaitre X, Gimenez-Roqueplo AP: Rationale for antiangiogenic therapy in pheochromocytoma and paraganglioma. Endocr Pathol 2012; 23: 34-42.
-
(2012)
Endocr Pathol
, vol.23
, pp. 34-42
-
-
Favier, J.1
Igaz, P.2
Burnichon, N.3
Amar, L.4
Libe, R.5
Badoual, C.6
Tissier, F.7
Bertherat, J.8
Plouin, P.F.9
Jeunemaitre, X.10
Gimenez-Roqueplo, A.P.11
-
65
-
-
84866405398
-
Combined blockade of signalling pathways shows marked anti-tumour potential in phaeochromocytoma cell lines
-
Nolting S, Garcia E, Alusi G, Giubellino A, Pacak K, Korbonits M, Grossman A: Combined blockade of signalling pathways shows marked anti-tumour potential in phaeochromocytoma cell lines. J Mol Endocrinol 2012; 49: 79-96.
-
(2012)
J Mol Endocrinol
, vol.49
, pp. 79-96
-
-
Nolting, S.1
Garcia, E.2
Alusi, G.3
Giubellino, A.4
Pacak, K.5
Korbonits, M.6
Grossman, A.7
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