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Volumn 74, Issue 22, 2014, Pages 6554-6564

Genetic evidence of a precisely tuned dysregulation in the hypoxia signaling pathway during oncogenesis

(27)  Couvé, Sophie a,b,k   Ladroue, Charline a,b   Laine, Elodie c,d   Mahtouk, Karène a,b   Guégan, Justine e   Gad, Sophie a,b,k   Le Jeune, Hélène a,b   Le Gentil, Marion e   Nuel, Gregory f   Kim, William Y g   Lecomte, Bernard h   Pagès, Jean Christophe i   Collin, Christine i   Lasne, Françoise j   Benusiglio, Patrick R b,k   Bressac De Paillerets, Brigitte k,l   Feunteun, Jean m   Lazar, Vladimir e   Gimenez Roqueplo, Anne Paule k,n,o,p   Mazure, Nathalie M q   more..


Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; CARCINOGENESIS; CASE REPORT; CHROMATIN IMMUNOPRECIPITATION; CONTROLLED STUDY; FEMALE; GENE EXPRESSION PROFILING; GENE MUTATION; GENETIC ASSOCIATION; GENOTYPE PHENOTYPE CORRELATION; HAPLOTYPE; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HYPOXIA; MALE; MIDDLE AGED; MOLECULAR DYNAMICS; ONCOGENE; PHENOTYPE; QUANTITATIVE ANALYSIS; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SIGNAL TRANSDUCTION; SINGLE NUCLEOTIDE POLYMORPHISM; TISSUE SPECIFICITY; TRANSCRIPTOMICS; VHL GENE; GENETICS; KIDNEY CARCINOMA; KIDNEY TUMOR; METABOLISM; MUTATION; PHEOCHROMOCYTOMA; PHYSIOLOGY;

EID: 84918528332     PISSN: 00085472     EISSN: 15387445     Source Type: Journal    
DOI: 10.1158/0008-5472.CAN-14-1161     Document Type: Article
Times cited : (29)

References (53)
  • 1
    • 80051680291 scopus 로고    scopus 로고
    • A continuum model for tumour suppression
    • Berger AH, Knudson AG, Pandolfi PP. A continuum model for tumour suppression. Nature 2011;476:163-9.
    • (2011) Nature , vol.476 , pp. 163-169
    • Berger, A.H.1    Knudson, A.G.2    Pandolfi, P.P.3
  • 2
    • 0033587146 scopus 로고    scopus 로고
    • The tumour suppressor protein VHL targets hypoxiainducible factors for oxygen-dependent proteolysis
    • Maxwell PH, Wiesener MS, Chang GW, Clifford SC, Vaux EC, Cockman ME, et al. The tumour suppressor protein VHL targets hypoxiainducible factors for oxygen-dependent proteolysis. Nature 1999;399:271-5.
    • (1999) Nature , vol.399 , pp. 271-275
    • Maxwell, P.H.1    Wiesener, M.S.2    Chang, G.W.3    Clifford, S.C.4    Vaux, E.C.5    Cockman, M.E.6
  • 3
    • 0033574737 scopus 로고    scopus 로고
    • Structure of the VHLElonginC-ElonginB complex: Implications for VHL tumor suppressor function
    • Stebbins CE, Kaelin WG Jr, Pavletich NP. Structure of the VHLElonginC-ElonginB complex: implications for VHL tumor suppressor function. Science 1999;284:455-61.
    • (1999) Science , vol.284 , pp. 455-461
    • Stebbins, C.E.1    Kaelin, W.G.2    Pavletich, N.P.3
  • 4
    • 0029940856 scopus 로고    scopus 로고
    • Phenotypic expression in von Hippel-Lindau disease: Correlations with germline VHL gene mutations
    • Maher ER, Webster AR, Richards FM, Green JS, Crossey PA, Payne SJ, et al. Phenotypic expression in von Hippel-Lindau disease: correlations with germline VHL gene mutations. J Med Genet 1996;33:328-32.
    • (1996) J Med Genet , vol.33 , pp. 328-332
    • Maher, E.R.1    Webster, A.R.2    Richards, F.M.3    Green, J.S.4    Crossey, P.A.5    Payne, S.J.6
  • 6
    • 34547174217 scopus 로고    scopus 로고
    • Hypoxia-inducible factor linked to differential kidney cancer risk seen with type 2A and type 2B VHL mutations
    • Li L, Zhang L, Zhang X, Yan Q, Minamishima YA, Olumi AF, et al. Hypoxia-inducible factor linked to differential kidney cancer risk seen with type 2A and type 2B VHL mutations. Mol Cell Biol 2007;27:5381-92.
    • (2007) Mol Cell Biol , vol.27 , pp. 5381-5392
    • Li, L.1    Zhang, L.2    Zhang, X.3    Yan, Q.4    Minamishima, Y.A.5    Olumi, A.F.6
  • 7
    • 0033776536 scopus 로고    scopus 로고
    • Ubiquitination of hypoxia-inducible factor requires direct binding to the beta-domain of the von Hippel-Lindau protein
    • Ohh M, Park CW, Ivan M, Hoffman MA, Kim TY, Huang LE, et al. Ubiquitination of hypoxia-inducible factor requires direct binding to the beta-domain of the von Hippel-Lindau protein. Nat Cell Biol 2000;2:423-7.
    • (2000) Nat Cell Biol , vol.2 , pp. 423-427
    • Ohh, M.1    Park, C.W.2    Ivan, M.3    Hoffman, M.A.4    Kim, T.Y.5    Huang, L.E.6
  • 8
    • 9144268968 scopus 로고    scopus 로고
    • Solid renal tumor severity in von Hippel Lindau disease is related to germline deletion length and location
    • Maranchie JK, Afonso A, Albert PS, Kalyandrug S, Phillips JL, Zhou S, et al. Solid renal tumor severity in von Hippel Lindau disease is related to germline deletion length and location. Hum Mutat 2004;23:40-6.
    • (2004) Hum Mutat , vol.23 , pp. 40-46
    • Maranchie, J.K.1    Afonso, A.2    Albert, P.S.3    Kalyandrug, S.4    Phillips, J.L.5    Zhou, S.6
  • 9
    • 18744373593 scopus 로고    scopus 로고
    • Disruption of oxygen homeostasis underlies congenital Chuvash polycythemia
    • Ang SO, Chen H, Hirota K, Gordeuk VR, Jelinek J, Guan Y, et al. Disruption of oxygen homeostasis underlies congenital Chuvash polycythemia. Nat Genet 2002;32:614-21.
    • (2002) Nat Genet , vol.32 , pp. 614-621
    • Ang, S.O.1    Chen, H.2    Hirota, K.3    Gordeuk, V.R.4    Jelinek, J.5    Guan, Y.6
  • 11
    • 2342631195 scopus 로고    scopus 로고
    • Congenital disorder of oxygen sensing: Association of the homozygous Chuvash polycythemia VHL mutation with thrombosis and vascular abnormalities but not tumors
    • Gordeuk VR, Sergueeva AI, Miasnikova GY, Okhotin D, Voloshin Y, Choyke PL, et al. Congenital disorder of oxygen sensing: association of the homozygous Chuvash polycythemia VHL mutation with thrombosis and vascular abnormalities but not tumors. Blood 2004;103:3924-32.
    • (2004) Blood , vol.103 , pp. 3924-3932
    • Gordeuk, V.R.1    Sergueeva, A.I.2    Miasnikova, G.Y.3    Okhotin, D.4    Voloshin, Y.5    Choyke, P.L.6
  • 12
    • 84890804798 scopus 로고    scopus 로고
    • Genetic basis of congenital erythrocytosis: Mutation update and online databases
    • Bento C, Percy MJ, Gardie B, Maia TM, Van Wijk R, Perrotta S, et al. Genetic basis of congenital erythrocytosis: mutation update and online databases. Hum Mutat 2014;35:15-26.
    • (2014) Hum Mutat , vol.35 , pp. 15-26
    • Bento, C.1    Percy, M.J.2    Gardie, B.3    Maia, T.M.4    Van Wijk, R.5    Perrotta, S.6
  • 13
    • 36849013228 scopus 로고    scopus 로고
    • Von Hippel-Lindau mutation in mice recapitulates Chuvash polycythemia via hypoxia-inducible factor-2alpha signaling and splenic erythropoiesis
    • Hickey MM, Lam JC, Bezman NA, Rathmell WK, Simon MC. von Hippel-Lindau mutation in mice recapitulates Chuvash polycythemia via hypoxia-inducible factor-2alpha signaling and splenic erythropoiesis. J Clin Invest 2007;117:3879-89.
    • (2007) J Clin Invest , vol.117 , pp. 3879-3889
    • Hickey, M.M.1    Lam, J.C.2    Bezman, N.A.3    Rathmell, W.K.4    Simon, M.C.5
  • 14
    • 84897019549 scopus 로고    scopus 로고
    • RUNX1 and NF-E2 upregulation is not specific for MPNs, but is seen in polycythemic disorders with augmented HIF signaling
    • Kapralova K, Lanikova L, Lorenzo F, Song J, Horvathova M, Divoky V, et al. RUNX1 and NF-E2 upregulation is not specific for MPNs, but is seen in polycythemic disorders with augmented HIF signaling. Blood 2014;123:391-4.
    • (2014) Blood , vol.123 , pp. 391-394
    • Kapralova, K.1    Lanikova, L.2    Lorenzo, F.3    Song, J.4    Horvathova, M.5    Divoky, V.6
  • 15
    • 79953695043 scopus 로고    scopus 로고
    • Dysregulation of the HIF pathway due to VHL mutation causing severe erythrocytosis and pulmonary arterial hypertension
    • Bond J, Gale DP, Connor T, Adams S, De Boer J, Gascoyne DM, et al. Dysregulation of the HIF pathway due to VHL mutation causing severe erythrocytosis and pulmonary arterial hypertension. Blood 2011;117:3699-701.
    • (2011) Blood , vol.117 , pp. 3699-3701
    • Bond, J.1    Gale, D.P.2    Connor, T.3    Adams, S.4    De Boer, J.5    Gascoyne, D.M.6
  • 16
    • 84918528477 scopus 로고    scopus 로고
    • The homozygous VHL missense mutation is associated with dramatically elevated erythropoietin levels, consequent polycythemia, and early onset severe pulmonary hypertension
    • Sarangi S, Lanikova L, Kapralova K, Acharya S, Swierczek S, Lipton JM, et al. The homozygous VHL missense mutation is associated with dramatically elevated erythropoietin levels, consequent polycythemia, and early onset severe pulmonary hypertension. Pediatr Blood Cancer 2014;61:2104-6.
    • (2014) Pediatr Blood Cancer , vol.61 , pp. 2104-2106
    • Sarangi, S.1    Lanikova, L.2    Kapralova, K.3    Acharya, S.4    Swierczek, S.5    Lipton, J.M.6
  • 17
    • 13244281831 scopus 로고    scopus 로고
    • Mutations in the von Hippel-Lindau (VHL) tumor suppressor gene and VHL-haplotype analysis in patients with presumable congenital erythrocytosis
    • Cario H, Schwarz K, Jorch N, Kyank U, Petrides PE, Schneider DT, et al. Mutations in the von Hippel-Lindau (VHL) tumor suppressor gene and VHL-haplotype analysis in patients with presumable congenital erythrocytosis. Haematologica 2005;90:19-24.
    • (2005) Haematologica , vol.90 , pp. 19-24
    • Cario, H.1    Schwarz, K.2    Jorch, N.3    Kyank, U.4    Petrides, P.E.5    Schneider, D.T.6
  • 18
    • 10744232594 scopus 로고    scopus 로고
    • The worldwide distribution of the VHL 598C>T mutation indicates a single founding event
    • Liu E, Percy MJ, Amos CI, Guan Y, Shete S, Stockton DW, et al. The worldwide distribution of the VHL 598C>T mutation indicates a single founding event. Blood 2004;103:1937-40.
    • (2004) Blood , vol.103 , pp. 1937-1940
    • Liu, E.1    Percy, M.J.2    Amos, C.I.3    Guan, Y.4    Shete, S.5    Stockton, D.W.6
  • 19
    • 33947097965 scopus 로고    scopus 로고
    • VHL mutation analysis in patients with isolated central nervous system haemangioblastoma
    • Woodward ER, Wall K, Forsyth J, Macdonald F, Maher ER. VHL mutation analysis in patients with isolated central nervous system haemangioblastoma. Brain 2007;130:836-42.
    • (2007) Brain , vol.130 , pp. 836-842
    • Woodward, E.R.1    Wall, K.2    Forsyth, J.3    Macdonald, F.4    Maher, E.R.5
  • 20
    • 0031762403 scopus 로고    scopus 로고
    • Germline mutation profile of the VHL gene in von Hippel-Lindau disease and in sporadic hemangioblastoma
    • Olschwang S, Richard S, Boisson C, Giraud S, Laurent-Puig P, Resche F, et al. Germline mutation profile of the VHL gene in von Hippel-Lindau disease and in sporadic hemangioblastoma. Hum Mutat 1998;12:424-30.
    • (1998) Hum Mutat , vol.12 , pp. 424-430
    • Olschwang, S.1    Richard, S.2    Boisson, C.3    Giraud, S.4    Laurent-Puig, P.5    Resche, F.6
  • 21
    • 16144365122 scopus 로고    scopus 로고
    • Germline mutations in the Von Hippel-Lindau disease (VHL) gene in families from North America, Europe, and Japan
    • Zbar B, Kishida T, Chen F, Schmidt L, Maher ER, Richards FM, et al. Germline mutations in the Von Hippel-Lindau disease (VHL) gene in families from North America, Europe, and Japan. Hum Mutat 1996;8:348-57.
    • (1996) Hum Mutat , vol.8 , pp. 348-357
    • Zbar, B.1    Kishida, T.2    Chen, F.3    Schmidt, L.4    Maher, E.R.5    Richards, F.M.6
  • 22
    • 0037035851 scopus 로고    scopus 로고
    • Structure of an HIF-1alpha-pVHL complex: Hydroxyproline recognition in signaling
    • Min JH, Yang H, Ivan M, Gertler F, Kaelin WG Jr, Pavletich NP. Structure of an HIF-1alpha-pVHL complex: hydroxyproline recognition in signaling. Science 2002;296:1886-9.
    • (2002) Science , vol.296 , pp. 1886-1889
    • Min, J.H.1    Yang, H.2    Ivan, M.3    Gertler, F.4    Kaelin, W.G.5    Pavletich, N.P.6
  • 23
    • 3042760528 scopus 로고    scopus 로고
    • Ectopic expression of von Hippel-Lindau tumor suppressor induces apoptosis in 786-O renal cell carcinoma cells and regresses tumor growth of 786-O cells in nude mouse
    • Kim M, Yan Y, Lee K, Sgagias M, Cowan KH. Ectopic expression of von Hippel-Lindau tumor suppressor induces apoptosis in 786-O renal cell carcinoma cells and regresses tumor growth of 786-O cells in nude mouse. Biochem Biophys Res Commun 2004;320:945-50.
    • (2004) Biochem Biophys Res Commun , vol.320 , pp. 945-950
    • Kim, M.1    Yan, Y.2    Lee, K.3    Sgagias, M.4    Cowan, K.H.5
  • 24
    • 67650531089 scopus 로고    scopus 로고
    • Genome-wide association of hypoxia-inducible factor (HIF) - 1alpha and HIF-2alpha DNA binding with expression profiling of hypoxia-inducible transcripts
    • Mole DR, Blancher C, Copley RR, Pollard PJ, Gleadle JM, Ragoussis J, et al. Genome-wide association of hypoxia-inducible factor (HIF) - 1alpha and HIF-2alpha DNA binding with expression profiling of hypoxia-inducible transcripts. J Biol Chem 2009;284:16767-75.
    • (2009) J Biol Chem , vol.284 , pp. 16767-16775
    • Mole, D.R.1    Blancher, C.2    Copley, R.R.3    Pollard, P.J.4    Gleadle, J.M.5    Ragoussis, J.6
  • 25
    • 33744954065 scopus 로고    scopus 로고
    • Concordant regulation of gene expression by hypoxia and 2-oxoglutarate-dependent dioxygenase inhibition: The role of HIF-1alpha, HIF-2alpha, and other pathways
    • Elvidge GP, Glenny L, Appelhoff RJ, Ratcliffe PJ, Ragoussis J, Gleadle JM. Concordant regulation of gene expression by hypoxia and 2-oxoglutarate-dependent dioxygenase inhibition: the role of HIF-1alpha, HIF-2alpha, and other pathways. J Biol Chem 2006;281:15215-26.
    • (2006) J Biol Chem , vol.281 , pp. 15215-15226
    • Elvidge, G.P.1    Glenny, L.2    Appelhoff, R.J.3    Ratcliffe, P.J.4    Ragoussis, J.5    Gleadle, J.M.6
  • 26
    • 66349100709 scopus 로고    scopus 로고
    • Patterns of gene expression and copy-number alterations in vonhippel lindau disease-associated and sporadic clear cell carcinoma of the kidney
    • Beroukhim R, Brunet JP, Di Napoli A, Mertz KD, Seeley A, Pires MM, et al. Patterns of gene expression and copy-number alterations in vonhippel lindau disease-associated and sporadic clear cell carcinoma of the kidney. Cancer Res 2009;69:4674-81.
    • (2009) Cancer Res , vol.69 , pp. 4674-4681
    • Beroukhim, R.1    Brunet, J.P.2    Di Napoli, A.3    Mertz, K.D.4    Seeley, A.5    Pires, M.M.6
  • 27
    • 73549086113 scopus 로고    scopus 로고
    • The mechanism of ubiquitination in the cullin-RING E3 ligase machinery: Conformational control of substrate orientation
    • Liu J, Nussinov R. The mechanism of ubiquitination in the cullin-RING E3 ligase machinery: conformational control of substrate orientation. PLoS Comput Biol 2009;5:e1000527.
    • (2009) PLoS Comput Biol , vol.5 , pp. e1000527
    • Liu, J.1    Nussinov, R.2
  • 28
    • 2342597973 scopus 로고    scopus 로고
    • Inhibition of HIF2alpha is sufficient to suppress pVHL-defective tumor growth
    • Kondo K, Kim WY, Lechpammer M, Kaelin WG Jr. Inhibition of HIF2alpha is sufficient to suppress pVHL-defective tumor growth. PLoS Biol 2003;1:E83.
    • (2003) PLoS Biol , vol.1 , pp. E83
    • Kondo, K.1    Kim, W.Y.2    Lechpammer, M.3    Kaelin, W.G.4
  • 29
    • 84862777063 scopus 로고    scopus 로고
    • Common genetic variants at the 11q13.3 renal cancer susceptibility locus influence binding of HIF to an enhancer of cyclin D1 expression
    • S1-2
    • Schodel J, Bardella C, Sciesielski LK, Brown JM, Pugh CW, Buckle V, et al. Common genetic variants at the 11q13.3 renal cancer susceptibility locus influence binding of HIF to an enhancer of cyclin D1 expression. Nat Genet 2012;44:420-5, S1-2.
    • (2012) Nat Genet , vol.44 , pp. 420-425
    • Schodel, J.1    Bardella, C.2    Sciesielski, L.K.3    Brown, J.M.4    Pugh, C.W.5    Buckle, V.6
  • 30
    • 33751530026 scopus 로고    scopus 로고
    • Expression of HIF-1alpha, HIF-2alpha (EPAS1), and their target genes in paraganglioma and pheochromocytoma with VHL and SDH mutations
    • Pollard PJ, El-Bahrawy M, Poulsom R, Elia G, Killick P, Kelly G, et al. Expression of HIF-1alpha, HIF-2alpha (EPAS1), and their target genes in paraganglioma and pheochromocytoma with VHL and SDH mutations. J Clin Endocrinol Metab 2006;91:4593-8.
    • (2006) J Clin Endocrinol Metab , 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
  • 31
    • 84865694593 scopus 로고    scopus 로고
    • Somatic HIF2A gain-of-function mutations in paraganglioma with polycythemia
    • Zhuang Z, Yang C, Lorenzo F, Merino M, Fojo T, Kebebew E, et al. Somatic HIF2A gain-of-function mutations in paraganglioma with polycythemia. N Engl J Med 2012;367:922-30.
    • (2012) N Engl J Med , vol.367 , pp. 922-930
    • Zhuang, Z.1    Yang, C.2    Lorenzo, F.3    Merino, M.4    Fojo, T.5    Kebebew, E.6
  • 32
    • 84855393367 scopus 로고    scopus 로고
    • Integrative genomic analyses of sporadic clear cell renal cell carcinoma define disease subtypes and potential new therapeutic targets
    • Dondeti VR, Wubbenhorst B, Lal P, Gordan JD, D'Andrea K, Attiyeh EF, et al. Integrative genomic analyses of sporadic clear cell renal cell carcinoma define disease subtypes and potential new therapeutic targets. Cancer Res 2012;72:112-21.
    • (2012) Cancer Res , vol.72 , pp. 112-121
    • Dondeti, V.R.1    Wubbenhorst, B.2    Lal, P.3    Gordan, J.D.4    D'Andrea, K.5    Attiyeh, E.F.6
  • 33
    • 84867542519 scopus 로고    scopus 로고
    • Multilevel whole-genome analysis reveals candidate biomarkers in clear cell renal cell carcinoma
    • Girgis AH, Iakovlev VV, Beheshti B, Bayani J, Squire JA, Bui A, et al. Multilevel whole-genome analysis reveals candidate biomarkers in clear cell renal cell carcinoma. Cancer Res 2012;72:5273-84.
    • (2012) Cancer Res , vol.72 , pp. 5273-5284
    • Girgis, A.H.1    Iakovlev, V.V.2    Beheshti, B.3    Bayani, J.4    Squire, J.A.5    Bui, A.6
  • 34
    • 84886427983 scopus 로고    scopus 로고
    • The G-protein-coupled receptor CLR is upregulated in an autocrine loop with adrenomedullin in clear cell renal cell carcinoma and associated with poor prognosis
    • Nikitenko LL, Leek R, Henderson S, Pillay N, Turley H, Generali D, et al. The G-protein-coupled receptor CLR is upregulated in an autocrine loop with adrenomedullin in clear cell renal cell carcinoma and associated with poor prognosis. Clin Cancer Res 2013;19:5740-8.
    • (2013) Clin Cancer Res , vol.19 , pp. 5740-5748
    • Nikitenko, L.L.1    Leek, R.2    Henderson, S.3    Pillay, N.4    Turley, H.5    Generali, D.6
  • 35
    • 0035339044 scopus 로고    scopus 로고
    • Contrasting effects on HIF-1alpha regulation by disease-causing pVHL mutations correlate with patterns of tumourigenesis in von Hippel-Lindau disease
    • Clifford SC, Cockman ME, Smallwood AC, Mole DR, Woodward ER, Maxwell PH, et al. Contrasting effects on HIF-1alpha regulation by disease-causing pVHL mutations correlate with patterns of tumourigenesis in von Hippel-Lindau disease. Hum Mol Genet 2001;10:1029-38.
    • (2001) Hum Mol Genet , vol.10 , pp. 1029-1038
    • Clifford, S.C.1    Cockman, M.E.2    Smallwood, A.C.3    Mole, D.R.4    Woodward, E.R.5    Maxwell, P.H.6
  • 36
    • 57049125129 scopus 로고    scopus 로고
    • VHL type 2B mutations retain VBC complex form and function
    • Hacker KE, Lee CM, Rathmell WK. VHL type 2B mutations retain VBC complex form and function. PLoS ONE 2008;3:e3801.
    • (2008) PLoS ONE , vol.3 , pp. e3801
    • Hacker, K.E.1    Lee, C.M.2    Rathmell, W.K.3
  • 37
    • 2542432915 scopus 로고    scopus 로고
    • Haploinsufficiency for tumour suppressor genes: When you don't need to go all the way
    • Santarosa M, Ashworth A. Haploinsufficiency for tumour suppressor genes: when you don't need to go all the way. Biochim Biophys Acta 2004;1654:105-22.
    • (2004) Biochim Biophys Acta , vol.1654 , pp. 105-122
    • Santarosa, M.1    Ashworth, A.2
  • 38
    • 79960146286 scopus 로고    scopus 로고
    • Loss of JAK2 regulation via a heterodimeric VHL-SOCS1 E3 ubiquitin ligase underlies Chuvash polycythemia
    • Russell RC, Sufan RI, Zhou B, Heir P, Bunda S, Sybingco SS, et al. Loss of JAK2 regulation via a heterodimeric VHL-SOCS1 E3 ubiquitin ligase underlies Chuvash polycythemia. Nat Med 2011;17:845-53.
    • (2011) Nat Med , vol.17 , pp. 845-853
    • Russell, R.C.1    Sufan, R.I.2    Zhou, B.3    Heir, P.4    Bunda, S.5    Sybingco, S.S.6
  • 40
    • 23644436667 scopus 로고    scopus 로고
    • 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, et al. Neuronal apoptosis linked to EglN3 prolyl hydroxylase and familial pheochromocytoma genes: developmental culling and cancer. Cancer Cell 2005;8:155-67.
    • (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
  • 41
    • 0029074707 scopus 로고
    • Von Hippel-Lindau (VHL) disease with pheochromocytoma in the Black Forest region of Germany: Evidence for a founder effect
    • Brauch H, Kishida T, Glavac D, Chen F, Pausch F, Hofler H, et al. Von Hippel-Lindau (VHL) disease with pheochromocytoma in the Black Forest region of Germany: evidence for a founder effect. Hum Genet 1995;95:551-6.
    • (1995) Hum Genet , vol.95 , pp. 551-556
    • Brauch, H.1    Kishida, T.2    Glavac, D.3    Chen, F.4    Pausch, F.5    Hofler, H.6
  • 42
    • 4143122357 scopus 로고    scopus 로고
    • Genotype-phenotype correlation in von Hippel-Lindau families with renal lesions
    • Gallou C, Chauveau D, Richard S, Joly D, Giraud S, Olschwang S, et al. Genotype-phenotype correlation in von Hippel-Lindau families with renal lesions. Hum Mutat 2004;24:215-24.
    • (2004) Hum Mutat , vol.24 , pp. 215-224
    • Gallou, C.1    Chauveau, D.2    Richard, S.3    Joly, D.4    Giraud, S.5    Olschwang, S.6
  • 43
    • 13244272302 scopus 로고    scopus 로고
    • Congenital polycythemia with homozygous and heterozygous mutations of von Hippel-Lindau gene: Five new Caucasian patients
    • Bento MC, Chang KT, Guan Y, Liu E, Caldas G, Gatti RA, et al. Congenital polycythemia with homozygous and heterozygous mutations of von Hippel-Lindau gene: five new Caucasian patients. Haematologica 2005;90:128-9.
    • (2005) Haematologica , vol.90 , pp. 128-129
    • Bento, M.C.1    Chang, K.T.2    Guan, Y.3    Liu, E.4    Caldas, G.5    Gatti, R.A.6
  • 45
    • 84883262922 scopus 로고    scopus 로고
    • Novel compound VHL heterozygosity (VHL T124A/L188V) associated with congenital polycythaemia
    • Lorenzo FR, Yang C, Lanikova L, Butros L, Zhuang Z, Prchal JT. Novel compound VHL heterozygosity (VHL T124A/L188V) associated with congenital polycythaemia. Br J Haematol 2013;162:851-3.
    • (2013) Br J Haematol , vol.162 , pp. 851-853
    • Lorenzo, F.R.1    Yang, C.2    Lanikova, L.3    Butros, L.4    Zhuang, Z.5    Prchal, J.T.6
  • 46
    • 0042665948 scopus 로고    scopus 로고
    • Mutations of von Hippel-Lindau tumor-suppressor gene and congenital polycythemia
    • Pastore Y, Jedlickova K, Guan Y, Liu E, Fahner J, Hasle H, et al. Mutations of von Hippel-Lindau tumor-suppressor gene and congenital polycythemia. Am J Hum Genet 2003;73:412-9.
    • (2003) Am J Hum Genet , vol.73 , pp. 412-419
    • Pastore, Y.1    Jedlickova, K.2    Guan, Y.3    Liu, E.4    Fahner, J.5    Hasle, H.6
  • 47
    • 0037441601 scopus 로고    scopus 로고
    • Mutations in the VHL gene in sporadic apparently congenital polycythemia
    • Pastore YD, Jelinek J, Ang S, Guan Y, Liu E, Jedlickova K, et al. Mutations in the VHL gene in sporadic apparently congenital polycythemia. Blood 2003;101:1591-5.
    • (2003) Blood , vol.101 , pp. 1591-1595
    • Pastore, Y.D.1    Jelinek, J.2    Ang, S.3    Guan, Y.4    Liu, E.5    Jedlickova, K.6
  • 51
    • 84879606718 scopus 로고    scopus 로고
    • A novel EPAS1/HIF2A germline mutation in a congenital polycythemia with paraganglioma
    • Lorenzo FR, Yang C, Ng Tang Fui M, Vankayalapati H, Zhuang Z, Huynh T, et al. A novel EPAS1/HIF2A germline mutation in a congenital polycythemia with paraganglioma. J Mol Med 2013;91:507-12.
    • (2013) J Mol Med , 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
  • 52
    • 84855244025 scopus 로고    scopus 로고
    • Distinct deregulation of the hypoxia inducible factor by PHD2 mutants identified in germline DNA of patients with polycythemia
    • Ladroue C, Hoogewijs D, Gad S, Carcenac R, Storti F, Barrois M, et al. Distinct deregulation of the hypoxia inducible factor by PHD2 mutants identified in germline DNA of patients with polycythemia. Haematologica 2012;97:9-14.
    • (2012) Haematologica , vol.97 , pp. 9-14
    • Ladroue, C.1    Hoogewijs, D.2    Gad, S.3    Carcenac, R.4    Storti, F.5    Barrois, M.6
  • 53
    • 42449111722 scopus 로고    scopus 로고
    • PHDs overactivation during chronic hypoxia "desensitizes" HIFalpha and protects cells from necrosis
    • Ginouves A, Ilc K, Macias N, Pouyssegur J, Berra E. PHDs overactivation during chronic hypoxia "desensitizes" HIFalpha and protects cells from necrosis. Proc Natl Acad Sci US A 2008;105:4745-50.
    • (2008) Proc Natl Acad Sci U S A , vol.105 , pp. 4745-4750
    • Ginouves, A.1    Ilc, K.2    Macias, N.3    Pouyssegur, J.4    Berra, E.5


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