-
1
-
-
10844287188
-
Investigation of the role of SDHB inactivation in sporadic phaeochromocytoma and neuroblastoma
-
(doi:10.1038/sj.bjc.6602202)
-
Astuti D, Morris M, Krona C, Abel F, Gentle D, Martinsson T, Kogner P, Neumann HP, Voutilainen R, Eng C et al. 2004 Investigation of the role of SDHB inactivation in sporadic phaeochromocytoma and neuroblastoma. British Journal of Cancer 91 1835-1841. (doi:10.1038/sj.bjc.6602202)
-
(2004)
British Journal of Cancer
, vol.91
, pp. 1835-1841
-
-
Astuti, D.1
Morris, M.2
Krona, C.3
Abel, F.4
Gentle, D.5
Martinsson, T.6
Kogner, P.7
Neumann, H.P.8
Voutilainen, R.9
Eng, C.10
-
2
-
-
84877906693
-
Tumoral EPAS1 (HIF2A) mutations explain sporadic pheochromocytoma and paraganglioma in the absence of erythrocytosis
-
(doi:10.1093/hmg/ddt069)
-
Comino-Méndez I, de Cubas AA, Bernal C, Alvarez-Escolá C, Sánchez-Malo C, Ramírez-Tortosa CL, Pedrinaci S, Rapizzi E, Ercolino T, Bernini G et al. 2013 Tumoral EPAS1 (HIF2A) mutations explain sporadic pheochromocytoma and paraganglioma in the absence of erythrocytosis. Human Molecular Genetics 22 2169-2176. (doi:10.1093/hmg/ddt069)
-
(2013)
Human Molecular Genetics
, vol.22
, pp. 2169-2176
-
-
Comino-Méndez, I.1
De Cubas, A.A.2
Bernal, C.3
Alvarez-Escolá, C.4
Sánchez-Malo, C.5
Ramírez-Tortosa, C.L.6
Pedrinaci, S.7
Rapizzi, E.8
Ercolino, T.9
Bernini, G.10
-
3
-
-
77955594623
-
A HIF1a regulatory loop links hypoxia and mitochondrial signals in pheochromocytomas
-
(doi:10.1371/journal.pgen.0010008)
-
Dahia PL, Ross KN, Wright ME, Hayashida CY, Santagata S, Barontini M, Kung AL, Sanso G, Powers JF, Tischler AS et al. 2005 A HIF1a regulatory loop links hypoxia and mitochondrial signals in pheochromocytomas. PLoS Genetics 1 72-80. (doi:10.1371/journal.pgen.0010008)
-
(2005)
PLoS Genetics
, vol.1
, pp. 72-80
-
-
Dahia, P.L.1
Ross, K.N.2
Wright, M.E.3
Hayashida, C.Y.4
Santagata, S.5
Barontini, M.6
Kung, A.L.7
Sanso, G.8
Powers, J.F.9
Tischler, A.S.10
-
4
-
-
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
-
(doi:10.1677/erc.1.00838)
-
Eisenhofer G, Huynh TT, Pacak K, Brouwers FM, Walther MM, Linehan WM, Munson PJ, Mannelli M, Goldstein DS & Elkahloun AG 2004 Distinct gene expression profiles in norepinephrine- and epinephrine-producing hereditary and sporadic pheochromocytomas: activation of hypoxia-driven angiogenic pathways in von Hippel-Lindau syndrome. Endocrine-Related Cancer 11 897-911. (doi:10.1677/erc.1.00838)
-
(2004)
Endocrine-Related 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
-
5
-
-
0028788184
-
Mutations in the RET proto-oncogene and the von Hippel-Lindau disease tumour suppressor gene in sporadic and syndromic phaeochromocytomas
-
(doi:10.1136/jmg.32.12.934)
-
Eng C, Crossey PA, Mulligan LM, Healey CS, Houghton C, Prowse A, Chew SL, Dahia PL, O'Riordan JL, Toledo SP et al. 1995 Mutations in the RET proto-oncogene and the von Hippel-Lindau disease tumour suppressor gene in sporadic and syndromic phaeochromocytomas. Journal of Medical Genetics 32 934-937. (doi:10.1136/jmg.32.12.934)
-
(1995)
Journal of Medical Genetics
, vol.32
, pp. 934-937
-
-
Eng, C.1
Crossey, P.A.2
Mulligan, L.M.3
Healey, C.S.4
Houghton, C.5
Prowse, A.6
Chew, S.L.7
Dahia, P.L.8
O'Riordan, J.L.9
Toledo, S.P.10
-
6
-
-
70349472696
-
The Warburg effect is genetically determined in inherited pheochromocytomas
-
(doi:10.1371/journal.pone.0007094)
-
Favier J, Brière JJ, Burnichon N, Rivière J, Vescovo L, Benit P, Giscos-Douriez I, De Reyniès A, Bertherat J, Badoual C et al. 2009 The Warburg effect is genetically determined in inherited pheochromocytomas. PLoS ONE 4 e7094. (doi:10.1371/journal.pone.0007094)
-
(2009)
PLoS ONE
, vol.4
-
-
Favier, J.1
Brière, J.J.2
Burnichon, N.3
Rivière, J.4
Vescovo, L.5
Benit, P.6
Giscos-Douriez, I.7
De Reyniès, A.8
Bertherat, J.9
Badoual, C.10
-
7
-
-
66149134447
-
Erythrocytosis-associated HIF-2a mutations demonstrate a critical role for residues C-terminal to the hydroxylacceptor proline
-
(doi:10.1074/jbc.M808737200)
-
Furlow PW, Percy MJ, Sutherland S, Bierl C, McMullin MF, Master SR, Lappin TR & Lee FS 2009 Erythrocytosis-associated HIF-2a mutations demonstrate a critical role for residues C-terminal to the hydroxylacceptor proline. Journal of Biological Chemistry 284 9050-9058. (doi:10.1074/jbc. M808737200)
-
(2009)
Journal of Biological Chemistry
, vol.284
, pp. 9050-9058
-
-
Furlow, P.W.1
Percy, M.J.2
Sutherland, S.3
Bierl, C.4
McMullin, M.F.5
Master, S.R.6
Lappin, T.R.7
Lee, F.S.8
-
8
-
-
84860834761
-
An update on the genetics of paraganglioma, pheochromocytoma, and associated hereditary syndromes
-
(doi:10.1055/s-0031-1301302)
-
Gimenez-Roqueplo AP, Dahia PL & Robledo M 2012 An update on the genetics of paraganglioma, pheochromocytoma, and associated hereditary syndromes. Hormone and Metabolic Research 44 328-333. (doi:10.1055/s-0031- 1301302)
-
(2012)
Hormone and Metabolic Research
, vol.44
, pp. 328-333
-
-
Gimenez-Roqueplo, A.P.1
Dahia, P.L.2
Robledo, M.3
-
9
-
-
84856118165
-
The genetics of phaeochromocytoma: Using clinical features to guide genetic testing
-
(doi:10.1530/EJE-11-0497)
-
Jafri M & Maher ER 2012 The genetics of phaeochromocytoma: using clinical features to guide genetic testing. European Journal of Endocrinology 166 151-158. (doi:10.1530/EJE-11-0497)
-
(2012)
European Journal of Endocrinology
, vol.166
, pp. 151-158
-
-
Jafri, M.1
Maher, E.R.2
-
10
-
-
43649093915
-
Oxygen sensing bymetazoans: The central role of the HIF hydroxylase pathway
-
(doi:10.1016/j.molcel.2008.04.009)
-
Kaelin WG, Jr & Ratcliffe PJ 2008 Oxygen sensing bymetazoans: the central role of the HIF hydroxylase pathway. Molecular Cell 30 393-402. (doi:10.1016/j.molcel.2008.04.009)
-
(2008)
Molecular Cell
, vol.30
, pp. 393-402
-
-
Kaelin Jr., W.G.1
Ratcliffe, P.J.2
-
11
-
-
84879606718
-
A novel EPAS1/HIF2A germline mutation in a congenital polycythemia with paraganglioma
-
(doi:10.1007/s00109-012-0967-z)
-
Lorenzo FR, Yang C, Ng Tang Fui M, Vankayalapati H, Zhuang Z, Huynh T, Grossmann M, Pacak K & Prchal JT 2013 A novel EPAS1/HIF2A germline mutation in a congenital polycythemia with paraganglioma. Journal of Molecular Medicine 91 507-512. (doi:10.1007/s00109-012-0967-z)
-
(2013)
Journal of Molecular Medicine
, vol.91
, pp. 507-512
-
-
Lorenzo, F.R.1
Yang, C.2
Ng Tang Fui, M.3
Vankayalapati, H.4
Zhuang, Z.5
Huynh, T.6
Grossmann, M.7
Pacak, K.8
Prchal, J.T.9
-
12
-
-
75149174239
-
Mutation analysis of hypoxia-inducible factors HIF1A and HIF2A in renal cell carcinoma
-
Morris MR, Hughes DJ, Tian YM, Ricketts CJ, Lau KW, Gentle D, Shuib S, Serrano-Fernandez P, Lubinski J, Wiesener MS et al. 2009 Mutation analysis of hypoxia-inducible factors HIF1A and HIF2A in renal cell carcinoma. Anticancer Research 29 4337-4343.
-
(2009)
Anticancer Research
, vol.29
, pp. 4337-4343
-
-
Morris, M.R.1
Hughes, D.J.2
Tian, Y.M.3
Ricketts, C.J.4
Lau, K.W.5
Gentle, D.6
Shuib, S.7
Serrano-Fernandez, P.8
Lubinski, J.9
Wiesener, M.S.10
-
13
-
-
38049173572
-
A gain-of-function mutation in the HIF2A gene in familial erythrocytosis
-
(doi:10.1056/NEJMoa073123)
-
Percy MJ, Furlow PW, Lucas GS, Li X, Lappin TR, McMullin MF & Lee FS 2008a A gain-of-function mutation in the HIF2A gene in familial erythrocytosis. New England Journal of Medicine 358 162-168. (doi:10.1056/NEJMoa073123)
-
(2008)
New England Journal of Medicine
, vol.358
, pp. 162-168
-
-
Percy, M.J.1
Furlow, P.W.2
Lucas, G.S.3
Li, X.4
Lappin, T.R.5
McMullin, M.F.6
Lee, F.S.7
-
14
-
-
45949112024
-
Novel exon 12 mutations in the HIF2A gene associated with erythrocytosis
-
(doi:10.1182/blood-2008-02-137703)
-
Percy MJ, Beer PA, Campbell G, Dekker AW, Green AR, Oscier D, Rainey MG, van Wijk R, Wood M, Lappin TR et al. 2008b Novel exon 12 mutations in the HIF2A gene associated with erythrocytosis. Blood 111 5400-5402. (doi:10.1182/blood- 2008-02-137703)
-
(2008)
Blood
, vol.111
, pp. 5400-5402
-
-
Percy, M.J.1
Beer, P.A.2
Campbell, G.3
Dekker, A.W.4
Green, A.R.5
Oscier, D.6
Rainey, M.G.7
Van Wijk, R.8
Wood, M.9
Lappin, T.R.10
-
15
-
-
33751530026
-
Expression of HIF-1α, HIF-2α (EPAS1), and their target genes in paraganglioma and pheochromocytoma with VHL and SDH mutations
-
(doi:10.1210/jc.2006-0920)
-
Pollard PJ, El-Bahrawy M, Poulsom R, Elia G, Killick P, Kelly G, Hunt T, Jeffery R, Seedhar P, Barwell J et al. 2006 Expression of HIF-1α, HIF-2α (EPAS1), and their target genes in paraganglioma and pheochromocytoma with VHL and SDH mutations. Journal of Clinical Endocrinology and Metabolism 91 4593-4598. (doi:10.1210/jc.2006-0920)
-
(2006)
Journal of Clinical Endocrinology and Metabolism
, vol.91
, pp. 4593-4598
-
-
Pollard, P.J.1
El-Bahrawy, M.2
Poulsom, R.3
Elia, G.4
Killick, P.5
Kelly, G.6
Hunt, T.7
Jeffery, R.8
Seedhar, P.9
Barwell, J.10
-
16
-
-
20744445650
-
Contrasting properties of hypoxia-inducible factor 1 (HIF-1) and HIF-2 in von Hippel-Lindau-associated renal cell carcinoma
-
(doi:10.1128/MCB.25.13.5675-5686.2005)
-
Raval RR, Lau KW, Tran MG, Sowter HM, Mandriota SJ, Li JL, Pugh CW, Maxwell PH, Harris AL & Ratcliffe PJ 2005 Contrasting properties of hypoxia-inducible factor 1 (HIF-1) and HIF-2 in von Hippel-Lindau-associated renal cell carcinoma. Molecular and Cellular Biology 25 5675-5686. (doi:10.1128/MCB.25.13.5675-5686.2005)
-
(2005)
Molecular and Cellular Biology
, vol.25
, pp. 5675-5686
-
-
Raval, R.R.1
Lau, K.W.2
Tran, M.G.3
Sowter, H.M.4
Mandriota, S.J.5
Li, J.L.6
Pugh, C.W.7
Maxwell, P.H.8
Harris, A.L.9
Ratcliffe, P.J.10
-
17
-
-
80054771537
-
Genetic and functional studies implicate HIF1α as a 14q kidney cancer suppressor gene
-
(doi:10.1158/2159-8290.CD-11-0098)
-
Shen C, Beroukhim R, Schumacher SE, Zhou J, Chang M, Signoretti S & Kaelin WG, Jr 2011 Genetic and functional studies implicate HIF1α as a 14q kidney cancer suppressor gene. Cancer Discovery 1 222-235. (doi:10.1158/2159- 8290.CD-11-0098)
-
(2011)
Cancer Discovery
, vol.1
, pp. 222-235
-
-
Shen, C.1
Beroukhim, R.2
Schumacher, S.E.3
Zhou, J.4
Chang, M.5
Signoretti, S.6
Kaelin Jr., W.G.7
-
18
-
-
84877696895
-
First report of bilateral pheochromocytoma in the clinical spectrum of HIF2A-related polycythemia-paraganglioma syndrome
-
(doi:10.1210/jc. 2013-1217)
-
Taïeb D, Yang C, Delenne B, Zhuang Z, Barlier A, Sebag F & Pacak K 2013 First report of bilateral pheochromocytoma in the clinical spectrum of HIF2A-related polycythemia-paraganglioma syndrome. Journal of Clinical Endocrinology and Metabolism 98 E908-E913. (doi:10.1210/jc. 2013-1217)
-
(2013)
Journal of Clinical Endocrinology and Metabolism
, vol.98
-
-
Taïeb, D.1
Yang, C.2
Delenne, B.3
Zhuang, Z.4
Barlier, A.5
Sebag, F.6
Pacak, K.7
-
19
-
-
84879468754
-
In vivo and in vitro oncogenic effects of HIF2A mutations in pheochromocytomas and paragangliomas
-
(doi:10.1530/ERC-13-0101)
-
Toledo RA, Qin Y, Srikantan S, Morales NP, Li Q, Deng Y, Kim S, Pereira MA, Toledo SP, Su X et al. 2013 In vivo and in vitro oncogenic effects of HIF2A mutations in pheochromocytomas and paragangliomas. Endocrine-Related Cancer 20 349-359. (doi:10.1530/ERC-13-0101)
-
(2013)
Endocrine-Related Cancer
, vol.20
, pp. 349-359
-
-
Toledo, R.A.1
Qin, Y.2
Srikantan, S.3
Morales, N.P.4
Li, Q.5
Deng, Y.6
Kim, S.7
Pereira, M.A.8
Toledo, S.P.9
Su, X.10
-
20
-
-
84878391649
-
Novel HIF2A mutations disrupt oxygen sensing, leading to polycythemia, paragangliomas, and somatostatinomas
-
(doi:10.1182/blood-2012-10-460972)
-
Yang C, Sun MG, Matro J, Huynh TT, Rahimpour S, Prchal JT, Lechan R, Lonser R, Pacak K & Zhuang Z 2013 Novel HIF2A mutations disrupt oxygen sensing, leading to polycythemia, paragangliomas, and somatostatinomas. Blood 121 2563-2566. (doi:10.1182/blood-2012-10-460972)
-
(2013)
Blood
, vol.121
, pp. 2563-2566
-
-
Yang, C.1
Sun, M.G.2
Matro, J.3
Huynh, T.T.4
Rahimpour, S.5
Prchal, J.T.6
Lechan, R.7
Lonser, R.8
Pacak, K.9
Zhuang, Z.10
-
21
-
-
77749270530
-
Mutations of the metabolic genes IDH1, IDH2, and SDHAF2 are not major determinants of the pseudohypoxic phenotype of sporadic pheochromocytomas and paragangliomas
-
(doi:10.1210/jc.2009-2245)
-
Yao L, Barontini M, Niederle B, Jech M, Pfragner R & Dahia PL 2010 Mutations of the metabolic genes IDH1, IDH2, and SDHAF2 are not major determinants of the pseudohypoxic phenotype of sporadic pheochromocytomas and paragangliomas. Journal of Clinical Endocrinology and Metabolism 95 1469-1472. (doi:10.1210/jc.2009-2245)
-
(2010)
Journal of Clinical Endocrinology and Metabolism
, vol.95
, pp. 1469-1472
-
-
Yao, L.1
Barontini, M.2
Niederle, B.3
Jech, M.4
Pfragner, R.5
Dahia, P.L.6
-
22
-
-
84865694593
-
Somatic HIF2A gain-of-function mutations in paraganglioma with polycythemia
-
(doi:10.1056/NEJMoa1205119)
-
Zhuang Z, Yang C, Lorenzo F, Merino M, Fojo T, Kebebew E, Popovic V, Stratakis CA, Prchal JT & Pacak K 2012 Somatic HIF2A gain-of-function mutations in paraganglioma with polycythemia. New England Journal of Medicine 367 922-930. (doi:10.1056/NEJMoa1205119)
-
(2012)
New England Journal of Medicine
, vol.367
, pp. 922-930
-
-
Zhuang, Z.1
Yang, C.2
Lorenzo, F.3
Merino, M.4
Fojo, T.5
Kebebew, E.6
Popovic, V.7
Stratakis, C.A.8
Prchal, J.T.9
Pacak, K.10
|