Citations for
1EGLN3, TFAM, VHL
Impaired oxygen-sensitive regulation of mitochondrial biogenesis within the von Hippel-Lindau syndrome
Li S, Li W, Yuan J, Bullova P, Wu J, Zhang X, Liu Y, Plescher M, Rodriguez J, Bedoya-Reina OC, Jannig PR, Valente-Silva P, Yu M, Henriksson MA, Zubarev RA, Smed-Sörensen A, Suzuki CK, Ruas JL, Holmberg J, Larsson C, Christofer Juhlin C, von Kriegsheim A, Cao Y, Schlisio S.
Nat Metab. Jun;4(6):739-758. doi: 10.1038/s42255-022-00593-x. Epub 2022 Jun 27. Erratum in: Nat Metab. 2022 Oct;4(10):1421. 2022
2DAAM2, HIF1A, VHL
Dishevelled Associated Activator Of Morphogenesis (DAAM) Facilitates Invasion of Hepatocellular Carcinoma by Upregulating Hypoxia-Inducible Factor 1α (HIF-1α) Expression.
Fang X, Zhang D, Zhao W, Gao L, Wang L.
Med Sci Monit. Aug 9;26:e924670. doi: 10.12659/MSM.924670 2020
3VHL, ZHX2
VHL substrate transcription factor ZHX2 as an oncogenic driver in clear cell renal cell carcinoma.
Zhang J, Wu T, Simon J, Takada M, Saito R, Fan C, Liu XD, Jonasch E, Xie L, Chen X, Yao X, Teh BT, Tan P, Zheng X, Li M, Lawrence C, Fan J, Geng J, Liu X, Hu L, Wang J, Liao C, Hong K, Zurlo G, Parker JS, Auman JT, Perou CM, Rathmell WK, Kim WY, Kirschner MW, Kaelin WG Jr, Baldwin AS, Zhang Q.
Science Jul 20;361(6399):290-295. doi: 10.1126/science.aap8411 2018
4MAPK7, VHL
Implication of VHL, ERK5, and HIF-1alpha in clear cell renal cell carcinoma: Molecular basis.
Serrano-Oviedo L, Giménez-Bachs JM, Nam-Cha SY, Cimas FJ, García-Cano J, Sánchez-Prieto R, Salinas-Sánchez AS.
Urol Oncol 35(3):114.e15-114.e22. doi: 10.1016/j.urolonc.2016.10.010. Epub 2016 Nov 8. 2017
5DAAM2, VHL
Daam2 driven degradation of VHL promotes gliomagenesis.
Zhu W, Krishna S, Garcia C, Lin CJ, Mitchell BD, Scott KL, Mohila CA, Creighton CJ, Yoo SH, Lee HK, Deneen B.
Elife Oct 20;6:e31926. doi: 10.7554/eLife.3192 2017
6CERKL, VHL
pVHL interacts with Ceramide kinase like (CERKL) protein and ubiquitinates it for oxygen dependent proteasomal degradation.
Chen J, Liu F, Li H, Archacki S, Gao M, Liu Y, Liao S, Huang M, Wang J, Yu S, Li C, Tang Z, Liu M.
Cell Signal 27(11):2314-23. doi: 10.1016/j.cellsig.2015.08.011. Epub 2015 Aug 18. 2015
7CDKN2A, VHL
Isoform-specific interactions of the von Hippel-Lindau tumor suppressor protein.
Minervini G, Mazzotta GM, Masiero A, Sartori E, Corrà S, Potenza E, Costa R, Tosatto SC.
Sci Rep 5:12605. doi: 10.1038/srep12605. 2015
8RCC1, VHL
Distinct von Hippel-Lindau gene and hypoxia-regulated alterations in gene and protein expression patterns of renal cell carcinoma and their effects on metabolism.
Leisz S, Schulz K, Erb S, Oefner P, Dettmer K, Mougiakakos D, Wang E, Marincola FM, Stehle F, Seliger B.
Oncotarget 6(13):11395-406. 2015
9RAN, VHL
Role of Ran-regulated nuclear-cytoplasmic trafficking of pVHL in the regulation of microtubular stability-mediated HIF-1α in hypoxic cardiomyocytes.
Jiang X, Zhang D, Zhang H, Huang Y, Teng M.
Sci Rep 5:9193. doi: 10.1038/srep09193. Erratum in: Sci Rep. 2015;5:11307. 2015
10VHL, ZNF350
ZBRK1, a novel tumor suppressor, activates VHL gene transcription through formation of a complex with VHL and p300 in renal cancer.
Chen K, Yu G, Gumireddy K, Li A, Yao W, Gao L, Chen S, Hao J, Wang J, Huang Q, Xu H, Ye Z.
Oncotarget 6(9):6959-76. 2015
11RWDD3, VHL
RSUME inhibits VHL and regulates its tumor suppressor function.
Gerez J, Tedesco L, Bonfiglio JJ, Fuertes M, Barontini M, Silberstein S, Wu Y, Renner U, Páez-Pereda M, Holsboer F, Stalla GK, Arzt E.
Oncogene 34(37):4855-66. doi: 10.1038/onc.2014.407. Epub 2014 Dec 15. 2015
12AURKA, CTNNB1, VHL
β-catenin links von Hippel-Lindau to aurora kinase A and loss of primary cilia in renal cell carcinoma.
Dere R, Perkins AL, Bawa-Khalfe T, Jonasch D, Walker CL.
J Am Soc Nephrol 26(3):553-64. doi: 10.1681/ASN.2013090984. Epub 2014 Oct 13. 2015
13NEK8, VHL
The tumor suppressor pVHL down-regulates never-in-mitosis A-related kinase 8 via hypoxia-inducible factors to maintain cilia in human renal cancer cells.
Ding XF, Zhou J, Hu QY, Liu SC, Chen G.
J Biol Chem 290(3):1389-94. doi: 10.1074/jbc.M114.589226. Epub 2014 Dec 1. 2015
14CUL2, ELOB, ELOC, VHL
Insights into Cullin-RING E3 ubiquitin ligase recruitment: structure of the VHL-EloBC-Cul2 complex.
Nguyen HC, Yang H, Fribourgh JL, Wolfe LS, Xiong Y.
Structure Mar 3;23(3):441-449. doi: 10.1016/j.str.2014.12.014. Epub 2015 Feb 5 2015
15VHL
Sporadic hemangioblastomas are characterized by cryptic VHL inactivation.
Shankar GM, Taylor-Weiner A, Lelic N, Jones RT, Kim JC, Francis JM, Abedalthagafi M, Borges LF, Coumans JV, Curry WT, Nahed BV, Shin JH, Paek SH, Park SH, Stewart C, Lawrence MS, Cibulskis K, Thorner AR, Van Hummelen P, Stemmer-Rachamimov AO, Batchelor TT, Carter SL, Hoang MP, Santagata S, Louis DN, Barker FG, Meyerson M, Getz G, Brastianos PK, Cahill DP.
Acta Neuropathol Commun 2:167. doi: 10.1186/s40478-014-0167-x. 2014
16VHL
Loss of VHL in mesenchymal progenitors of the limb bud alters multiple steps of endochondral bone development.
Mangiavini L, Merceron C, Araldi E, Khatri R, Gerard-O'Riley R, Wilson TL, Rankin EB, Giaccia AJ, Schipani E.
Dev Biol 393(1):124-36. doi: 10.1016/j.ydbio.2014.06.013. Epub 2014 Jun 24. 2014
17VHL
The multifaceted von Hippel-Lindau tumour suppressor protein.
Robinson CM, Ohh M.
FEBS Lett 588(16):2704-11. doi: 10.1016/j.febslet.2014.02.026. Epub 2014 Feb 25. Review. 2014
18VHL
Von Hippel-Lindau gene expression in human endometrium during menstrual cycle.
Lu YY, Zhu WJ, Xie BG.
Mol Med Rep 9(4):1355-8. doi: 10.3892/mmr.2014.1962. Epub 2014 Feb 18. 2014
19VHL
The von hippel-lindau protein suppresses androgen receptor activity.
Wang J, Zhang W, Ji W, Liu X, Ouyang G, Xiao W.
Mol Endocrinol 28(2):239-48. doi: 10.1210/me.2013-1258. Epub 2014 Jan 1. 2014
20VHL
Tumor suppressor VHL functions in the control of mitotic fidelity.
Hell MP, Duda M, Weber TC, Moch H, Krek W.
Cancer Res 74(9):2422-31. doi: 10.1158/0008-5472.CAN-13-2040. Epub 2013 Dec 20. 2014
21E2F1, VHL
pVHL acts as a downstream target of E2F1 to suppress E2F1 activity.
Ji W, Wang J, Zhang W, Liu X, Ouyang G, Xiao W.
Biochem J 457(1):185-95. doi: 10.1042/BJ20130793. 2014
22GLI1, VHL
Tumor suppressor protein VHL inhibits Hedgehog-Gli activation through suppression of Gli1 nuclear localization.
Cho HK, Kim SY, Kim KH, Kim HH, Cheong J.
FEBS Lett 587(7):826-32. doi: 10.1016/j.febslet.2013.01.050. Epub 2013 Feb 8. 2013
23NEK1, VHL
Nek1 phosphorylates Von Hippel-Lindau tumor suppressor to promote its proteasomal degradation and ciliary destabilization.
Patil M, Pabla N, Huang S, Dong Z.
Cell Cycle 12(1):166-71. doi: 10.4161/cc.23053. Epub 2012 Dec 19. 2013
24VHL
Elimination of von Hippel-Lindau function perturbs pancreas endocrine homeostasis in mice.
Puri S, García-Núñez A, Hebrok M, Cano DA.
PLoS One 8(8):e72213. doi: 10.1371/journal.pone.0072213. eCollection 2013. 2013
25VHL
The von Hippel-Lindau protein pVHL inhibits ribosome biogenesis and protein synthesis.
Zhao WT, Zhou CF, Li XB, Zhang YF, Fan L, Pelletier J, Fang J.
J Biol Chem 288(23):16588-97. doi: 10.1074/jbc.M113.455121. Epub 2013 Apr 23. 2013
26KDM5C, VHL
The von Hippel-Lindau tumor suppressor protein regulates gene expression and tumor growth through histone demethylase JARID1C.
Niu X, Zhang T, Liao L, Zhou L, Lindner DJ, Zhou M, Rini B, Yan Q, Yang H.
Oncogene 31(6):776-86. doi: 10.1038/onc.2011.266. Epub 2011 Jul 4. 2012
27EGLN1, VHL
Prolyl hydroxylase 2 dependent and Von-Hippel-Lindau independent degradation of Hypoxia-inducible factor 1 and 2 alpha by selenium in clear cell renal cell carcinoma leads to tumor growth inhibition.
Chintala S, Najrana T, Toth K, Cao S, Durrani FA, Pili R, Rustum YM.
BMC Cancer 12:293. doi: 10.1186/1471-2407-12-293. 2012
28HIF1A, VHL
Von Hippel-Lindau protein in the RPE is essential for normal ocular growth and vascular development.
Lange CA, Luhmann UF, Mowat FM, Georgiadis A, West EL, Abrahams S, Sayed H, Powner MB, Fruttiger M, Smith AJ, Sowden JC, Maxwell PH, Ali RR, Bainbridge JW.
Development 139(13):2340-50. doi: 10.1242/dev.070813. Epub 2012 May 23. 2012
29VHL
Mutations of the von Hippel-Lindau gene confer increased susceptibility to natural killer cells of clear-cell renal cell carcinoma.
Perier A, Fregni G, Wittnebel S, Gad S, Allard M, Gervois N, Escudier B, Azzarone B, Caignard A.
Oncogene 30(23):2622-32. doi: 10.1038/onc.2010.638. Epub 2011 Jan 24. 2011
30VHL
Von Hippel-Lindau gene product directs cytokinesis: a new tumor suppressor function.
Sinha S, Mondal G, Hwang EJ, Han da W, Dutta SK, Iyer S, Karumanchi SA, Kim KI, Couch FJ, Mukhopadhyay D.
J Cell Sci. 124(Pt 13):2132-42. 2011
31VHL
Proteomic dissection of the von Hippel-Lindau (VHL) interactome.
Lai Y, Song M, Hakala K, Weintraub ST, Shiio Y.
J Proteome Res. 10(11):5175-82. 2011
32VHL
Quantitative proteomics identifies the Myb-binding protein p160 as a novel target of the von Hippel-Lindau tumor suppressor.
Lai Y, Qiao M, Song M, Weintraub ST, Shiio Y.
PLoS One. 6(2):e16975. 2011
33SKP2, VHL
von Hippel-Lindau protein promotes Skp2 destabilization on DNA damage.
Roe JS, Kim HR, Hwang IY, Cho EJ, Youn HD.
Oncogene. 30(28):3127-38. 2011
34VHL
Regulation of cellular levels of Sprouty2 protein by prolyl hydroxylase domain and von Hippel-Lindau proteins.
Anderson K, Nordquist KA, Gao X, Hicks KC, Zhai B, Gygi SP, Patel TB.
J Biol Chem. 286(49):42027-36. 2011
35ECYT2, JAK2, VHL
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, Greer SN, Roche O, Heathcote SA, Chow VW, Boba LM, Richmond TD, Hickey MM, Barber DL, Cheresh DA, Simon MC, Irwin MS, Kim WY, Ohh M.
Nat Med 17(7):845-53. doi: 10.1038/nm.2370. 2011
36SKP2, VHL
von Hippel-Lindau protein promotes Skp2 destabilization on DNA damage.
Roe JS, Kim HR, Hwang IY, Cho EJ, Youn HD.
Oncogene 30(28):3127-38. doi: 10.1038/onc.2011.40. Epub 2011 Feb 28. 2011
37CBL, VHL
The von Hippel-Lindau tumor suppressor protein promotes c-Cbl-independent poly-ubiquitylation and degradation of the activated EGFR.
Zhou L, Yang H.
PLoS One 6(9):e23936. doi: 10.1371/journal.pone.0023936. Epub 2011 Sep 16. 2011
38MYBBP1A, VHL
Quantitative proteomics identifies the Myb-binding protein p160 as a novel target of the von Hippel-Lindau tumor suppressor.
Lai Y, Qiao M, Song M, Weintraub ST, Shiio Y.
PLoS One 6(2):e16975. doi: 10.1371/journal.pone.0016975. 2011
39EPAS1, RNF4, VHL
RNF4 and VHL regulate the proteasomal degradation of SUMO-conjugated Hypoxia-Inducible Factor-2alpha.
van Hagen M, Overmeer RM, Abolvardi SS, Vertegaal AC.
Nucleic Acids Res 38(6):1922-31. Epub 2009 Dec 21. 2010
40VHL
Ubiquitin/SUMO modification regulates VHL protein stability and nucleocytoplasmic localization.
Cai Q, Robertson ES.
PLoS One. 5(9). pii: e12636. 2010
41ECYT1, ECYT2, ECYT3, ECYT4, EGLN1, EPAS1, EPOR, VHL
Genetic origins and clinical phenotype of familial and acquired erythrocytosis and thrombocytosis.
Percy MJ, Rumi E.
Am J Hematol 84(1):46-54. Review. 2009
42CDH1, CLDN1, VHL
Regulation of renal epithelial tight junctions by the von Hippel-Lindau tumor suppressor gene involves occludin and claudin 1 and is independent of E-cadherin.
Harten SK, Shukla D, Barod R, Hergovich A, Balda MS, Matter K, Esteban MA, Maxwell PH.
Mol Biol Cell 20(3):1089-101. Epub 2008 Dec 10.PMID: 19073886 2009
43VHL
Novel insights into the role of the tumor suppressor von Hippel Lindau in cellular differentiation, ciliary biology, and cyst repression.
Wiesener MS, Maxwell PH, Eckardt KU.
J Mol Med 87(9):871-7. Epub 2009 Jul 24.PMID: 19629420 2009
44VHL
Oxygen-regulated beta(2)-adrenergic receptor hydroxylation by EGLN3 and ubiquitylation by pVHL.
Xie L, Xiao K, Whalen EJ, Forrester MT, Freeman RS, Fong G, Gygi SP, Lefkowitz RJ, Stamler JS.
Sci Signal. 2(78):ra33. 2009
45VHL
VHL Type 2B gene mutation moderates HIF dosage in vitro and in vivo.
Lee CM, Hickey MM, Sanford CA, McGuire CG, Cowey CL, Simon MC, Rathmell WK.
Oncogene. 28(14):1694-705. 2009
46BRK1, VHL
Genotype-phenotype correlations in VHL exon deletions.
McNeill A, Rattenberry E, Barber R, Killick P, MacDonald F, Maher ER.
Am J Med Genet A 149A(10):2147-51. doi: 10.1002/ajmg.a.33023. 2009
47ECYT1, ECYT2, ECYT3, ECYT4, EGLN1, EPAS1, EPOR, VHL
A study of 36 unrelated cases with pure erythrocytosis revealed three new mutations in the erythropoietin receptor gene.
Al-Sheikh M, Mazurier E, Gardie B, Casadevall N, Galactéros F, Goossens M, Wajcman H, Préhu C, Ugo V.
Haematologica 93(7):1072-5. Epub 2008 May 19. 2008
48VHL
Allele-specific regulation of primary cilia function by the von Hippel-Lindau tumor suppressor.
Lolkema MP, Mans DA, Ulfman LH, Volpi S, Voest EE, Giles RH.
Eur J Hum Genet 16(1):73-8. Epub 2007 Oct 3. 2008
49VHL, TGFBI, KLF10
Two novel VHL targets, TGFBI (BIGH3) and its transactivator KLF10, are up-regulated in renal clear cell carcinoma and other tumors.
Ivanov SV, Ivanova AV, Salnikow K, Timofeeva O, Subramaniam M, Lerman MI.
Biochem Biophys Res Commun 370(4):536-40. Epub 2008 Mar 24. 2008
50TMEM115, VHL
Loss of PL6 protein expression in renal clear cell carcinomas and other VHL-deficient tumours.
Ivanova AV, Vortmeyer A, Ivanov SV, Nickerson ML, Maher ER, Lerman MI.
J Pathol 214(1):46-57.PMID: 17973242 2008
51EGR1, UBE2S, VHL
Egr-1 and serum response factor are involved in growth factors- and serum-mediated induction of E2-EPF UCP expression that regulates the VHL-HIF pathway.
Lim JH, Jung CR, Lee CH, Im DS.
J Cell Biochem 105(4):1117-27.PMID: 18780286 2008
52KIF5C, VHL
Mobility of the von Hippel-Lindau tumour suppressor protein is regulated by kinesin-2.
Mans DA, Lolkema MP, van Beest M, Daenen LG, Voest EE, Giles RH.
Exp Cell Res 314(6):1229-36. Epub 2008 Jan 5.PMID: 18261724 2008
53VHL
A novel von Hippel-Lindau point mutation presents as apparently sporadic pheochromocytoma.
Rich TA, Jonasch E, Matin S, Waguespack SG, Gombos DS, Santarpia L, Stolle C, Jimenez C.
Cancer Invest 26(6):642-6.PMID: 18584357 2008
54VHL
Hypoxia-mediated Na-K-ATPase degradation requires von Hippel Lindau protein.
Zhou G, Dada LA, Chandel NS, Iwai K, Lecuona E, Ciechanover A, Sznajder JI.
FASEB J 22(5):1335-42. Epub 2007 Dec 11.PMID: 18073334 2008
55VHL
Role of the VHL (von Hippel-Lindau) gene in renal cancer: a multifunctional tumour suppressor.
Nyhan MJ, O'Sullivan GC, McKenna SL.
Biochem Soc Trans 36(Pt 3):472-8. Review.PMID: 18481984 2008
56VHL
PVHL is a regulator of glucose metabolism and insulin secretion in pancreatic beta cells.
Zehetner J, Danzer C, Collins S, Eckhardt K, Gerber PA, Ballschmieter P, Galvanovskis J, Shimomura K, Ashcroft FM, Thorens B, Rorsman P, Krek W.
Genes Dev. 22(22):3135-46. 2008
57VHL
VHL promotes E2 box-dependent E-cadherin transcription by HIF-mediated regulation of SIP1 and snail.
Evans AJ, Russell RC, Roche O, Burry TN, Fish JE, Chow VW, Kim WY, Saravanan A, Maynard MA, Gervais ML, Sufan RI, Roberts AM, Wilson LA, Betten M, Vandewalle C, Berx G, Marsden PA, Irwin MS, Teh BT, Jewett MA, Ohh M.
Mol Cell Biol 27(1):157-69. Epub 2006 Oct 23. 2007
58EGLN3, VHL
EGLN3 prolyl hydroxylase regulates skeletal muscle differentiation and myogenin protein stability.
Fu J, Menzies K, Freeman RS, Taubman MB.
J Biol Chem 282(17):12410-8. Epub 2007 Mar 6. 2007
59VHL, KIF3A
The von Hippel-Lindau tumour suppressor interacts with microtubules through kinesin-2.
Lolkema MP, Mans DA, Snijckers CM, van Noort M, van Beest M, Voest EE, Giles RH.
FEBS Lett 581(24):4571-6. Epub 2007 Aug 31. 2007
60VHL
Genotype-phenotype correlation in von Hippel-Lindau disease with retinal angiomatosis.
Wong WT, Agrón E, Coleman HR, Reed GF, Csaky K, Peterson J, Glenn G, Linehan WM, Albert P, Chew EY.
Arch Ophthalmol 125(2):239-45. 2007
61VHL
VHL mutation analysis in patients with isolated central nervous system haemangioblastoma.
Woodward ER, Wall K, Forsyth J, Macdonald F, Maher ER.
Brain 130(Pt 3):836-42. Epub 2007 Jan 29. 2007
62VHL
The expression of the von Hippel-Lindau gene product and its impact on invasiveness of human breast cancer cells.
Zia MK, Rmali KA, Watkins G, Mansel RE, Jiang WG.
Int J Mol Med 20(4):605-11.PMID: 17786294 2007
63VHL
Mosaicism in von Hippel-Lindau disease: an event important to recognize.
Santarpia L, Sarlis NJ, Santarpia M, Sherman SI, Trimarchi F, Benvenga S.
J Cell Mol Med 11(6):1408-15.PMID: 18205710 2007
64VHL
NAD(P)H oxidases regulate HIF-2alpha protein expression.
Block K, Gorin Y, Hoover P, Williams P, Chelmicki T, Clark RA, Yoneda T, Abboud HE.
J Biol Chem. 282(11):8019-26. 2007
65VHL
PKCzetaII is a target for degradation through the tumour suppressor protein pVHL.
Iturrioz X, Parker PJ.
FEBS Lett. 581(7):1397-402. 2007
66VHL, CTNNB1
The von Hippel-Lindau tumor suppressor gene product represses oncogenic beta-catenin signaling in renal carcinoma cells.
Peruzzi B, Athauda G, Bottaro DP.
Proc Natl Acad Sci U S A 103(39):14531-6. Epub 2006 Sep 18. 2006
67VHL
The von Hippel-Lindau tumor suppressor protein controls ciliogenesis by orienting microtubule growth.
Schermer B, Ghenoiu C, Bartram M, Muller RU, Kotsis F, Hohne M, Kuhn W, Rapka M, Nitschke R, Zentgraf H, Fliegauf M, Omran H, Walz G, Benzing T.
J Cell Biol 175(4):547-54. Epub 2006 Nov 13. 2006
68VHL, PRKCD
The von Hippel-Lindau tumour-suppressor protein interaction with protein kinase Cdelta.
Iturrioz X, Durgan J, Calleja V, Larijani B, Okuda H, Whelan R, Parker PJ.
Biochem J 397(1):109-20. 2006
69VHL
Molecular analysis of two uncharacterized sequence variants of the VHL gene.
Martella M, Salviati L, Casarin A, Trevisson E, Opocher G, Polli R, Gross D, Murgia A.
J Hum Genet 51(11):964-8. Epub 2006 Sep 28. 2006
70VHL
p53 stabilization and transactivation by a von Hippel-Lindau protein.
Roe JS, Kim H, Lee SM, Kim ST, Cho EJ, Youn HD.
Mol Cell. 22(3):395-405. 2006
71VHL
Loss of the tumor suppressor Vhlh leads to upregulation of Cxcr4 and rapidly progressive glomerulonephritis in mice.
Ding M, Cui S, Li C, Jothy S, Haase V, Steer BM, Marsden PA, Pippin J, Shankland S, Rastaldi MP, Cohen CD, Kretzler M, Quaggin SE.
Nat Med. 12(9):1081-7. 2006
72VHL
Hereditary prostate cancer in Finland: fine-mapping validates 3p26 as a major predisposition locus.
Rokman A, Baffoe-Bonnie AB, Gillanders E, Fredriksson H, Autio V, Ikonen T, Gibbs KD Jr, Jones M, Gildea D, Freas-Lutz D, Markey C, Matikainen MP, Koivisto PA, Tammela TL, Kallioniemi OP, Trent J, Bailey-Wilson JE, Schleutker J.
Hum Genet 116(1-2):43-50. Epub 2004 Nov 11. 2005
73VHL
Folding and quality control of the VHL tumor suppressor proceed through distinct chaperone pathways.
McClellan AJ, Scott MD, Frydman J.
Cell 121(5):739-48. 2005
74JADE1, VHL
Jade-1, a candidate renal tumor suppressor that promotes apoptosis.
Zhou MI, Foy RL, Chitalia VC, Zhao J, Panchenko MV, Wang H, Cohen HT.
Proc Natl Acad Sci U S A 102(31):11035-40. Epub 2005 Jul 26. 2005
75RCC3, RCC1, VHL, RNF139, CRCC
About the origin and development of hereditary conventional renal cell carcinoma in a four-generation t(3;8)(p14.1;q24.23) family.
Valle L, Cascon A, Melchor L, Otero I, Rodriguez-Perales S, Sanchez L, Cruz Cigudosa J, Robledo M, Weber B, Urioste M, Benitez J.
Eur J Hum Genet 13(5):570-8. 2005
76ECYT2, VHL
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, Uhle R, Debatin KM, Kohne E.
Haematologica 90(1):19-24. 2005
77VHL
Tumor suppression by the von Hippel-Lindau protein requires phosphorylation of the acidic domain.
Lolkema MP, Gervais ML, Snijckers CM, Hill RP, Giles RH, Voest EE, Ohh M.
J Biol Chem 280(23):22205-11. Epub 2005 Apr 11. 2005
78HIF1A, VHL
Induction of the von Hippel-Lindau tumor suppressor gene by late hypoxia limits HIF-1 expression.
Karhausen J, Kong T, Narravula S, Colgan SP.
J Cell Biochem 95(6):1264-75. 2005
79VHL
Loss of the von Hippel Lindau tumor suppressor disrupts iron homeostasis in renal carcinoma cells.
Alberghini A, Recalcati S, Tacchini L, Santambrogio P, Campanella A, Cairo G.
J Biol Chem 280(34):30120-8. Epub 2005 Jun 28. 2005
80VHL
The pathway for IRP2 degradation involving 2-oxoglutarate-dependent oxygenase(s) does not require the E3 ubiquitin ligase activity of pVHL.
Wang J, Pantopoulos K.
Biochim Biophys Acta. 1743(1-2):79-85. 2005
81VHL
Tid-1 interacts with the von Hippel-Lindau protein and modulates angiogenesis by destabilization of HIF-1alpha.
Bae MK, Jeong JW, Kim SH, Kim SY, Kang HJ, Kim DM, Bae SK, Yun I, Trentin GA, Rozakis-Adcock M, Kim KW.
Cancer Res. 65(7):2520-5. 2005
82JADE1, VHL
Tumor suppressor von Hippel-Lindau (VHL) stabilization of Jade-1 protein occurs through plant homeodomains and is VHL mutation dependent.
Zhou MI, Wang H, Foy RL, Ross JJ, Cohen HT.
Cancer Res 64(4):1278-86. 2004
83VHL
Deletion of Vhlh in chondrocytes reduces cell proliferation and increases matrix deposition during growth plate development.
Pfander D, Kobayashi T, Knight MC, Zelzer E, Chan DA, Olsen BR, Giaccia AJ, Johnson RS, Haase VH, Schipani E.
Development 131(10):2497-508. 2004
84MYC, VHL
The allelic loss of chromosome 3p25 with c-myc gain is related to the development of clear-cell renal cell carcinoma.
Yamaguchi S, Yoshihiro S, Matsuyama H, Nagao K, Fukunaga K, Matsumoto H, Matsuda K, Oba K, Naito K.
Clin Genet 63(3):184-91. 2003
85CXCR4, VHL
Chemokine receptor CXCR4 downregulated by von Hippel-Lindau tumour suppressor pVHL.
Staller P, Sulitkova J, Lisztwan J, Moch H, Oakeley EJ, Krek W.
Nature 425(6955):307-11. 2003
86PSMC3, VHL
Tat-binding protein-1, a component of the 26S proteasome, contributes to the E3 ubiquitin ligase function of the von Hippel-Lindau protein.
Corn PG, McDonald ER 3rd, Herman JG, El-Deiry WS.
Nat Genet 35(3):229-37. Epub 2003 Oct 12. 2003
87HIF3A, VHL
Multiple splice variants of the human HIF-3 alpha locus are targets of the von Hippel-Lindau E3 ubiquitin ligase complex.
Maynard MA, Qi H, Chung J, Lee EH, Kondo Y, Hara S, Conaway RC, Conaway JW, Ohh M.
J Biol Chem 278(13):11032-40. Epub 2003 Jan 21. 2003
88NDRG1, VHL
Downregulation of Cap43 gene by von Hippel-Lindau tumor suppressor protein in human renal cancer cells.
Masuda K, Ono M, Okamoto M, Morikawa W, Otsubo M, Migita T, Tsuneyoshi M, Okuda H, Shuin T, Naito S, Kuwano M.
Int J Cancer 105(6):803-10. 2003
89RASSF1, FHIT, VHL, FHIT, RARB
Allele loss and promoter hypermethylation of VHL, RAR-beta, RASSF1A, and FHIT tumor suppressor genes on chromosome 3p in esophageal squamous cell carcinoma.
Kuroki T, Trapasso F, Yendamuri S, Matsuyama A, Alder H, Mori M, Croce CM.
Cancer Res 63(13):3724-8. 2003
90POLR2G, VHL
Identification of the RNA polymerase II subunit hsRPB7 as a novel target of the von Hippel-Lindau protein.
Na X, Duan HO, Messing EM, Schoen SR, Ryan CK, di Sant'Agnese PA, Golemis EA, Wu G.
EMBO J 22(16):4249-59. 2003
91MSH4, VHL
Human MutS homologue MSH4 physically interacts with von Hippel-Lindau tumor suppressor-binding protein 1.
Her C, Wu X, Griswold MD, Zhou F.
Cancer Res 63(4):865-72. 2003
92ECYT2, VHL
Chuvash-type congenital polycythemia in 4 families of Asian and Western European ancestry.
Percy MJ, McMullin MF, Jowitt SN, Potter M, Treacy M, Watson WH, Lappin TR.
Blood 102(3):1097-9. Epub 2003 Apr 17. 2003
93VHL
von Hippel-Lindau protein binds hyperphosphorylated large subunit of RNA polymerase II through a proline hydroxylation motif and targets it for ubiquitination.
Kuznetsova AV, Meller J, Schnell PO, Nash JA, Ignacak ML, Sanchez Y, Conaway JW, Conaway RC, Czyzyk-Krzeska MF.
Proc Natl Acad Sci U S A. 100(5):2706-11. 2003
94VHL
VHL-mediated hypoxia regulation of cyclin D1 in renal carcinoma cells.
Bindra RS, Vasselli JR, Stearman R, Linehan WM, Klausner RD.
Cancer Res 62(11):3014-9. 2002
95USP20, USP33, VHL
Identification of a deubiquitinating enzyme subfamily as substrates of the von Hippel-Lindau tumor suppressor.
Li Z, Wang D, Na X, Schoen SR, Messing EM, Wu G.
Biochem Biophys Res Commun 294(3):700-9. 2002
96VHL
Somatic von Hippel-Lindau disease gene mutation in clear-cell renal carcinomas associated with end-stage renal disease/acquired cystic disease of the kidney.
Yoshida M, Yao M, Ishikawa I, Kishida T, Nagashima Y, Kondo K, Nakaigawa N, Hosaka M.
Genes Chromosomes Cancer 35(4):359-64. 2002
97ECYT2, VHL
Disruption of oxygen homeostasis underlies congenital Chuvash polycythemia.
Ang SO, Chen H, Hirota K, Gordeuk VR, Jelinek J, Guan Y, Liu E, Sergueeva AI, Miasnikova GY, Mole D, Maxwell PH, Stockton DW, Semenza GL, Prchal JT.
Nat Genet 32(4):614-21. 2002
98JADE1, VHL
The von Hippel-Lindau tumor suppressor stabilizes novel plant homeodomain protein Jade-1.
Zhou MI, Wang H, Ross JJ, Kuzmin I, Xu C, Cohen HT.
J Biol Chem 277(42):39887-98. Epub 2002 Aug 06. 2002
99USP33, VHL
Ubiquitination of a novel deubiquitinating enzyme requires direct binding to von Hippel-Lindau tumor suppressor protein.
Li Z, Na X, Wang D, Schoen SR, Messing EM, Wu G.
J Biol Chem 277(7):4656-62. Epub 2001 Dec 05. 2002
100VHL
The TRC8 hereditary kidney cancer gene suppresses growth and functions with VHL in a common pathway.
Gemmill RM, Bemis LT, Lee JP, Sozen MA, Baron A, Zeng C, Erickson PF, Hooper JE, Drabkin HA.
Oncogene. 21(22):3507-16. 2002
101VHL
von Hippel-Lindau protein mutants linked to type 2C VHL disease preserve the ability to downregulate HIF.
Hoffman MA, Ohh M, Yang H, Klco JM, Ivan M, Kaelin WG Jr.
Hum Mol Genet 10(10):1019-27. 2001
102VHL
Localization of a novel susceptibility gene for familial ovarian cancer to chromosome 3p22-p25.
Sekine M, Nagata H, Tsuji S, Hirai Y, Fujimoto S, Hatae M, Kobayashi I, Fujii T, Nagata I, Ushijima K, Obata K, Suzuki M, Yoshinaga M, Umesaki N, Satoh S, Enomoto T, Motoyama S, Tanaka K.
Hum Mol Genet 10(13):1421-9. 2001
103VHL, TSG3E, TSG3G
Multiple regions with allelic loss at chromosome 3 in superficial multifocal bladder tumors.
Louhelainen J, Wijkstrom H, Hemminki K.
Int J Oncol 18(1):203-10. 2001
104FHIT, RASSF1, ROBO1, VHL
Tumor suppressors on 3p: a neoclassic quartet.
Huebner K.
Proc Natl Acad Sci U S A 98(26):14763-5. No abstract available. 2001
105VHL
Endoplasmic reticulum/cytosolic localization of von Hippel-Lindau gene products is mediated by a 64-amino acid region.
Schoenfeld AR, Davidowitz EJ, Burk RD.
Int J Cancer 91(4):457-67. 2001
106BCS1L, C10orf2, COX10, COX10D, COX17, DSPP, FRDA, MNGIE, NARP, NDUFS1, NDUFS2, NDUFS4, NDUFS7, NDUFS8, NDUFV1, NDUFV1D, NF1, OPA1, PGL1, PGL2, PGL3, POLG, SCO1, SCO2, SDHA, SDHB, SDHC, SDHD, SLC25A4, SPG7, SURF1, VHL
Nuclear genetic defects of oxidative phosphorylation.
Shoubridge EA.
Hum Mol Genet 10(20):2277-84. Review. 2001
107VHL
Frequent loss of heterozygosity at 3p25-p26 is associated with invasive oral squamous cell carcinoma.
Kayahara H, Yamagata H, Tanioka H, Miki T, Hamakawa H.
J Hum Genet 46(6):335-41. 2001
108TSG13D, TSG17A, VHL, TSG9H
Loss of heterozygosity on chromosomes 3, 9, 13, and 17, including the retinoblastoma locus, in uveal melanoma.
Scholes AG, Liloglou T, Maloney P, Hagan S, Nunn J, Hiscott P, Damato BE, Grierson I, Field JK.
Invest Ophthalmol Vis Sci 42(11):2472-7. 2001
109VHL
FIH-1: a novel protein that interacts with HIF-1alpha and VHL to mediate repression of HIF-1 transcriptional activity.
Mahon PC, Hirota K, Semenza GL.
Genes Dev. 15(20):2675-86. 2001
110VHL
The von Hippel-Lindau protein interacts with heteronuclear ribonucleoprotein a2 and regulates its expression.
Pioli PA, Rigby WF.
J Biol Chem. 276(43):40346-52. 2001
111VHL
Genotype-phenotype correlations in families with deletions in the von Hippel-Lindau (VHL) gene.
Hes F, Zewald R, Peeters T, Sijmons R, Links T, Verheij J, Matthijs G, Leguis E, Mortier G, van der Torren K, Rosman M, Lips C, Pearson P, van der Luijt R.
Hum Genet 106(4):425-31. 2000
112VHL
Comparative sequence analysis of the VHL tumor suppressor gene.
Woodward ER, Buchberger A, Clifford SC, Hurst LD, Affara NA, Maher ER.
Genomics 65(3):253-65. 2000
113VHL, DLEC1
Combined LOH/CGH analysis proves the existence of interstitial 3p deletions in renal cell carcinoma.
Alimov A, Kost-Alimova M, Liu J, Li C, Bergerheim U, Imreh S, Klein G, Zabarovsky ER.
Oncogene 19(11):1392-9. 2000
114VHL
Cryptic von hippel-lindau disease: germline mutations in patients with haemangioblastoma only
Hes FJ, McKee S, Taphoorn MJ, Rehal P, van Der Luijt RB , McMahon R, van Der Smagt JJ , Dow D, Zewald RA, Whittaker J, Lips CJ, MacDonald F, Pearson PL, Maher ER.
J Med Genet 37(12):939-43. 2000
115VHL, TSG3G
Loss of heterozygosity on the short arm of chromosome 3 in renal cancer.
Maestro ML, del Barco V, Sanz-Casla MT, Moreno J, Adrover E, Izquierdo L, Zanna I, Fernandez C, Redondo E, Blanco J, Resel L.
Oncology 59(2):126-30. 2000
116VHL
Differential genetic alterations in von Hippel-Lindau syndrome-associated and sporadic pheochromocytomas.
Bender BU, Gutsche M, Glasker S, Muller B, Kirste G, Eng C, Neumann HP.
J Clin Endocrinol Metab 85(12):4568-74. 2000
117CUL2, ELOC, HIF1A, VHL
Activation of HIF1alpha ubiquitination by a reconstituted von Hippel-Lindau (VHL) tumor suppressor complex.
Kamura T, Sato S, Iwai K, Czyzyk-Krzeska M, Conaway RC, Conaway JW.
Proc Natl Acad Sci U S A 97(19):10430-5. 2000
118EPAS1, VHL
Hypoxia inducible factor-alpha binding and ubiquitylation by the von Hippel-Lindau tumor suppressor protein.
Cockman ME, Masson N, Mole DR, Jaakkola P, Chang GW, Clifford SC, Maher ER, Pugh CW, Ratcliffe PJ, Maxwell PH.
J Biol Chem 275(33):25733-41. 2000
119ELOB, ELOC, VHL
Elongin BC complex prevents degradation of von Hippel-Lindau tumor suppressor gene products.
Schoenfeld AR, Davidowitz EJ, Burk RD.
Proc Natl Acad Sci U S A Jul 18;97(15):8507-12. doi: 10.1073/pnas.97.15.8507 2000
120RCC1, VHL
Mutations of the VHL gene in sporadic renal cell carcinoma: definition of a risk factor for VHL patients to develop an RCC.
Gallou C, Joly D, Mejean A, Staroz F, Martin N, Tarlet G, Orfanelli MT, Bouvier R, Droz D, Chretien Y, Marechal JM, Richard S, Junien C, Beroud C.
Hum Mutat 13(6):464-75 1999
121VHL
Identification of the von hippel-lindau tumor-suppressor protein as part of an active E3 ubiquitin ligase complex.
Iwai K, Yamanaka K, Kamura T, Minato N, Conaway RC, Conaway JW, Klausner RD, Pause A.
Proc Natl Acad Sci U S A 96(22):12436-41 1999
122VHL
VHL: A very hip ligase.
Tyers M, Rottapel R.
Proc Natl Acad Sci U S A 96(22):12230-2. No abstract available 1999
123VHL
The von Hippel-Lindau tumor suppressor protein is a component of an E3 ubiquitin-protein ligase activity.
Lisztwan J, et al.
Genes Dev 13(14):1822-33 1999
124VHL
The von Hippel-Lindau tumour suppressor protein: new perspectives.
Ohh M, et al.
Mol Med Today 5(6):257-63. Review 1999
125VHL
Structure of the VHL-ElonginC-ElonginB complex: implications for VHL tumor suppressor function.
Stebbins CE, et al.
Science 284(5413):455-61 1999
126VHL
Two distinct phenotypes caused by two different missense mutations in the same codon of the VHL gene.
Bradley JF, et al.
Am J Med Genet 87(2):163-7 1999
127VHL, ST11, TSG3G
Detailed genetic and physical mapping of tumor suppressor loci on chromosome 3p in ovarian cancer.
Fullwood P, Marchini S, Rader JS, Martinez A, Macartney D, Broggini M, Morelli C, Barbanti-Brodano G, Maher ER, Latif F.
Cancer Res 59(18):4662-7 1999
128CUL2, NEDD8, VHL
The von Hippel-Lindau tumor suppressor gene product promotes, but is not essential for, NEDD8 conjugation to cullin-2.
Wada H, Yeh ET, Kamitani T.
J Biol Chem 274(50):36025-9. 1999
129VHL
An important von Hippel-Lindau tumor suppressor domain mediates Sp1-binding and self-association.
Cohen HT, Zhou M, Welsh AM, Zarghamee S, Scholz H, Mukhopadhyay D, Kishida T, Zbar B, Knebelmann B, Sukhatme VP.
Biochem Biophys Res Commun 266(1):43-50. 1999
130VHL
The tumour suppressor protein VHL targets hypoxia-inducible factors for oxygen-dependent proteolysis.
Maxwell PH, Wiesener MS, Chang GW, Clifford SC, Vaux EC, Cockman ME, Wykoff CC, Pugh CW, Maher ER, Ratcliffe PJ.
Nature 399(6733):271-5. 1999
131VHL
Formation of the VHL-elongin BC tumor suppressor complex is mediated by the chaperonin TRiC.
Feldman DE, Thulasiraman V, Ferreyra RG, Frydman J.
Mol Cell. 4(6):1051-61. 1999
132VHL, TSG3B, TSG3G
Inactivation of the von Hippel-Lindau (VHL) tumour suppressor gene and allelic losses at chromosome arm 3p in primary renal cell carcinoma : evidence for a VHL-independent pathway in clear cell renal tumourigenesis.
Clifford SC, et al.
Genes Chromosomes Cancer 22 : 200-209. 1998
133TSG8D, TSG17A, VHL
Intratumoral heterogeneity of von Hippel-Lindau gene deletions in renal cell carcinoma detected by fluorescence in situ hybridization.
Moch H, Schraml P, Bubendorf L, Richter J, Gasser TC, Mihatsch MJ, Sauter G.
Cancer Res 58 : 2304-2309. 1998
134VHL
A common region of allelic loss on chromosome region 3p25.3-26.3 in nasopharyngeal carcinoma.
Deng L, Jing N, Tan G, Zhou M, Zhan F, Xie Y, Cao L, Li G.
Genes Chromosomes Cancer 23 : 21-25. 1998
135VHL
Functions of the von Hippel-Lindau tumour suppressor protein.
Kaelin WG, Iliopoulos O, Lonergan KM, Ohh M.
J Intern Med 243 : 535-539. 1998
136VHL
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, Thomas G.
Hum Mutat 12 : 424-430. 1998
137VHL
Improved detection of germline mutations in the von Hippel-Lindau disease tumor suppressor gene.
Stolle C, Glenn G, Zbar B, Humphrey JS, Choyke P, Walther M, Pack S, Hurley K, Andrey C, Klausner R, Linehan WM.
Hum Mutat 12 : 417-423. 1998
138VHL
An analysis of phenotypic variation in the familial cancer syndrome von Hippel-Lindau disease : evidence for modifier effects.
Webster AR, et al.
Am J Hum Genet 63 : 1025-1035. 1998
139VHL
Loss of heterozygosity of the von Hippel Lindau gene locus in polypoid dysplasia but not flat dysplasia in ulcerative colitis or sporadic adenomas.
Fogt F, Vortmeyer AO, Stolte M, Mueller E, Mueller J, Noffsinger A, Poremba C, Zhuang Z.
Hum Pathol 29 : 961-964. 1998
140APC, BRCA1, DPP4, MLH1, MSH2, MSH6, NF1, PMS2, RB1, TP53, VHL, WT1, FAP
Tumour suppressor gene mutations in humans and mice : parallels and contrasts.
Hooper ML.
EMBO J 17(23):6783-9. 1998
141VHL
Coexpression of erythropoietin and vascular endothelial growth factor in nervous system tumors associated with von Hippel-Lindau tumor suppressor gene loss of function.
Krieg M, Marti HH, Plate KH.
Blood 92 : 3388-3393. 1998
142VHL
Mapping of chromosome 3p deletions in human epithelial ovarian tumors.
Lounis H, Mes-Masson AM, Dion F, Bradley WE, Seymour RJ, Provencher D, Tonin PN.
Oncogene 17 : 2359-2365. 1998
143PPARA, CDKN1B, VHL
Peroxisome proliferator-activated receptor alpha-isoform deficiency leads to progressive dyslipidemia with sexually dimorphic obesity and steatosis.
Costet P, et al.
J Biol Chem 273(45):29577-85. 1998
144VHL
The von Hippel-Lindau tumor suppressor gene is required for cell cycle exit upon serum withdrawal.
Pause A, et al.
Proc Natl Acad Sci U S A 95(3):993-8 1998
145VHL
The VHL tumour-suppressor gene paradigm.
Kaelin WG Jr, et al.
Trends Genet 14(10):423-6. Review 1998
146CUL2, ELOB, ELOC, VHL
Regulation of hypoxia-inducible mRNAs by the von Hippel-Lindau tumor suppressor protein requires binding to complexes containing elongins B/C and Cul2.
Lonergan KM, Iliopoulos O, Ohh M, Kamura T, Conaway RC, Conaway JW, Kaelin WG Jr.
Mol Cell Biol 18(2):732-41. 1998
147VHL
The von Hippel-Lindau tumor suppressor protein is required for proper assembly of an extracellular fibronectin matrix.
Ohh M, Yauch RL, Lonergan KM, Whaley JM, Stemmer-Rachamimov AO, Louis DN, Gavin BJ, Kley N, Kaelin WG Jr, Iliopoulos O.
Mol Cell. 1(7):959-68. 1998
148CUL2, VHL
The von Hippel-Lindau tumor-suppressor gene product forms a stable complex with human CUL-2, a member of the Cdc53 family of proteins.
Pause A, et al.
Proc Natl Acad Sci U S A 94 : 2156-2161. 1997
149VHL
Somatic mutations of the von Hippel-Lindau tumor suppressor gene and loss of heterozygosity on chromosome 3p in human glial tumors.
Kanno H, Shuin T, Kondo K, Yamamoto I, Ito S, Shinonaga M, Yoshida M, Yao M.
Cancer Res 57 : 1035-1038. 1997
150VHL
Somatic inactivation of the VHL gene in Von Hippel-Lindau disease tumors.
Prowse AH, Webster AR, Richards FM, Richard S, Olschwang S, Resche F, Affara NA, Maher ER.
Am J Hum Genet 60 : 765-771. 1997
151VHL, TSG3B, DLEC1
Involvement of multiple loci on chromosome 3 in renal cell cancer development.
van den Berg A, Buys CH.
Genes Chromosomes Cancer 19(2):59-76. 1997
152GDNF, MTC1, VHL
Genetic predisposition to phaeochromocytoma: analysis of candidate genes GDNF, RET and VHL.
Woodward ER, Eng C, McMahon R, Voutilainen R, Affara NA, Ponder BA, Maher ER.
Hum Mol Genet 6(7):1051-6. 1997
153RCC3, VHL, TSG3B, TSG3G
Analysis of multiple renal cell adenomas and carcinomas suggests allelic loss at 3p21 to be a prerequisite for malignant development.
van den Berg A, Dijkhuizen T, Draaijers TG, Hulsbeek MM, Maher ER, van den Berg E, Storkel S, Buys CH.
Genes Chromosomes Cancer 19(4):228-32. 1997
154VHL
Novel germline mutations in Swedish von Hippel-Lindau disease patients : correlation to clinical manifestations.
Wiklund L, et al.
Int J Oncol 11 : 509-512. 1997
155VHL
Identification of elongin C sequences required for interaction with the von Hippel-Lindau tumor suppressor protein.
Takagi Y, Pause A, Conaway RC, Conaway JW.
J Biol Chem 272(43):27444-9. 1997
156ECYT2, VHL
Congenital polycythemia in Chuvashia.
Sergeyeva A, Gordeuk VR, Tokarev YN, Sokol L, Prchal JF, Prchal JT.
Blood 89(6):2148-54. 1997
157VHL
The von Hippel-Lindau tumor suppressor gene product interacts with Sp1 to repress vascular endothelial growth factor promoter activity.
Mukhopadhyay D, Knebelmann B, Cohen HT, Ananth S, Sukhatme VP.
Mol Cell Biol. 17(9):5629-39. 1997
158VHL
Familial pheochromocytoma associated with a novel mutation in the von Hippel-Lindau gene.
Gross DJ, et al.
J Clin Endocrinol Metab 81 : 147-149. 1996
159VHL
Identification of two sporadically derived mutations in the Von Hippel-Lindau gene.
Martin RL, et al.
Hum Mutat 7 : 185. 1996
160VHL
Detection of a germline mutation and somatic homozygous loss of the von Hippel-Lindau tumor-suppressor gene in a family with a De novo mutation. A combined genetic study, including cytogenetics, PCR/SSCP, FISh, and CGH.
Decker HJ, Neuhaus C, Jauch A, Speicher M, Ried T, Bujard M, Brauch H, Storkel S, Stockle M, Seliger B, Huber C.
Hum Genet 97 : 770-776. 1996
161VHL
Mutations in the VHL tumor suppressor gene and associated lesions in families with von Hippel-Lindau disease from central Europe.
Glavac D, Neumann HP, Wittke C, Jaenig H, Masek O, Streicher T, Pausch F, Engelhardt D, Plate KH, Hofler H, Chen F, Zbar B, Brauch H.
Hum Genet 98 : 271-280. 1996
162VHL
Genotype-phenotype correlation in von Hippel-Lindau disease : identification of a mutation associated with VHL type 2A.
Chen F, et al.
J Med Genet 33 : 716-717. 1996
163VHL
Isolation and characterization of the full-length 3' untranslated region of the human von Hippel-Lindau tumor suppressor gene.
Renbaum P, Duh FM, Latif F, Zbar B, Lerman MI, Kuzmin I.
Hum Genet 98 : 666-671. 1996
164VHL
Germline mutations in the Von Hippel-Lindau disease (VHL) gene in families from North America, Europe, and Japan.
Zbar B, et al.
Hum Mutat 8 : 348-357. 1996
165VHL
Identification of a novel protein (VBP-1) binding to the von Hippel-Lindau (VHL) tumor suppressor gene product.
Tsuchiya H, Iseda T, Hino O.
Cancer Res. 56(13):2881-5. 1996
166VHL
Germline mutations in the Von Hippel-Lindau disease tumor suppressor gene : correlations with phenotype.
Chen F, Kishida T, Yao M, Hustad T, Glavac D, Dean M, Gnarra JR, Orcutt ML, Duh FM, Glenn G, et al.
Hum Mutat 5 : 66-75. 1995
167VHL
Von Hippel-Lindau (VHL) disease with pheochromocytoma in the Black Forest region of Germany : evidence for a founder effect.
Brauch H, et al.
Hum Genet 95 : 551-556. 1995
168VHL
Molecular analysis of De novo germline mutations in the von Hippel-Lindau disease gene.
Richards FM, et al.
Hum Mol Genet 4 : 2139-2143. 1995
169VHL
Germline mutations in the von Hippel-Lindau disease (VHL) gene in Japanese VHL.
Clinical Research Group for VHL in Japan.
Hum Mol Genet 4 : 2233-2237. 1995
170MTC1, RET, VHL
Mutations in the RET proto-oncogene and the von Hippel-Lindau disease tumour suppressor gene in sporadic and syndromic phaeochromocytomas.
Eng C, et al.
J Med Genet 32 : 934-937. 1995
171VHL
Detection of germline mutations in the von Hippel-Lindau disease gene by the primer specified restriction map modification method.
Kishida T, et al.
J Med Genet 32 : 938-941. 1995
172VHL
Terminal deletion of chromosome 3p sequences in nonpapillary renal cell carcinomas : a breakpoint cluster between loci D3S1285 and D3S1603.
Wilhelm M, Bugert P, Kenck C, Staehler G, Kovacs G.
Cancer Res 55 : 5383-5385. 1995
173VHL, RCC1
Suppression of growth of renal carcinoma cells by the von Hippel-Lindau tumor suppressor gene.
Chen F, Kishida T, Duh FM, Renbaum P, Orcutt ML, Schmidt L, Zbar B.
Cancer Res 55 : 4804-4807. 1995
174VHL, RCC1
Somatic mutations of von Hippel-Lindau (VHL) tumor-suppressor gene in european kidney cancers.
Bailly M, Bain C, Favrot MC, Ozturk M.
Int J Cancer 63 : 660-664. 1995
175VHL
Identification of the promoter of the human von Hippel-Lindau disease tumor suppressor gene.
Kuzmin I, Duh FM, Latif F, Geil L, Zbar B, Lerman MI.
Oncogene 10 : 2185-2194. 1995
176VHL
Loss of heterozygosity on the short arm of chromosome 3 in sporadic, von Hippel-Lindau disease-associated, and familial pheochromocytoma.
Zeiger MA, Zbar B, Keiser H, Linehan WM, Gnarra JR.
Genes Chromosomes Cancer 13 : 151-156. 1995
177VHL
Characterization of the VHL tumor suppressor gene product : localization, complex formation, and the effect of natural inactivating mutations.
Duan DR, et al.
Proc Natl Acad Sci U S A 92 : 6459-6463. 1995
178VHL
Binding of the von Hippel-Lindau tumor suppressor protein to Elongin B and C.
Kibel A, Iliopoulos O, DeCaprio JA, Kaelin WG Jr.
Science. 269(5229):1444-6. 1995
179VHL
Tumour suppression by the human von Hippel-Lindau gene product.
Iliopoulos O, Kibel A, Gray S, Kaelin WG Jr.
Nat Med. 1(8):822-6. 1995
180VHL
Molecular genetic investigations of the mechanism of tumourigenesis in von Hippel-Lindau disease : analysis of allele loss in VHL tumours.
Crossey PA, Foster K, Richards FM, Phipps ME, Latif F, Tory K, Jones MH, Bentley E, Kumar R, Lerman MI, et al.
Hum Genet 93 : 53-58. 1994
181VHL
A PCR generated Accl RFLP in the 3' untranslated region of the von Hippel-Lindau disease (VHL) tumour suppressor gene.
Payne SJ, et al.
Hum Mol Genet 3 : 390. 1994
182VHL
Detailed mapping of germline deletions of the von Hippel-Lindau disease tumour suppressor gene.
Richards FM, Crossey PA, Phipps ME, Foster K, Latif F, Evans G, Sampson J, Lerman MI, Zbar B, Affara NA, et al.
Hum mol Genet 3 : 595-598. 1994
183VHL, TSG3B, DLEC1
Molecular genetic investigation of sporadic renal cell carcinoma : analysis of allele loss on chromosomes 3p, 5q, 11p, 17 and 22.
Foster K, Crossey PA, Cairns P, Hetherington JW, Richards FM, Jones MH, Bentley E, Affara NA, Ferguson-Smith MA, Maher ER.
Br J Cancer 69 : 230-234. 1994
184VHL
Molecular analysis of the von Hippel-Lindau disease tumor suppressor gene in human lung cancer cell lines.
Sekido Y, Bader S, Latif F, Gnarra JR, Gazdar AF, Linehan WM, Zbar B, Lerman MI, Minna JD.
Oncogene 9 : 1599-1604. 1994
185VHL, RCC1
Mutations of the VHL tumour suppressor gene in renal carcinoma.
Gnarra JR, Tory K, Weng Y, Schmidt L, Wei MH, Li H, Latif F, Liu S, Chen F, Duh FM, et al.
Nat Genet 7 : 85-90. 1994
186VHL
One-megabase yeast artificial chromosome and 400-kilobase cosmid-phage contigs containing the von Hippel-Lindau tumor suppressor and Ca2+ - transporting adenosine triphosphatase isoform 2 genes.
Kuzmin I, et al.
Cancer Res 54 : 2486-2491. 1994
187VHL
A novel donor splice site mutation associated with two mRNAs in von Hippel-Lindau disease.
Kishida T, et al.
Hum Mol Genet 3 : 1191-1192. 1994
188VHL, RCC1
Frequent somatic mutations and loss of heterozygosity of the von Hippel-Lindau tumor suppressor gene in primary human renal cell carcinomas.
Shuin T, Kondo K, Torigoe S, Kishida T, Kubota Y, Hosaka M, Nagashima Y, Kitamura H, Latif F, Zbar B, et al.
Cancer Res 54 : 2852-2855. 1994
189VHL
A novel mutation in the von Hippel-Lindau gene.
Loeb DB, et al.
Hum Mol Genet 3 : 1423-1424. 1994
190VHL
Identification of intragenic mutations in the Von Hippel-Lindau disease tumour suppressor gene and correlation with disease phenotype.
Crossey PA, et al.
Hum Mol Genet 3 : 1303-1308. 1994
191VHL, RCC1
Silencing of the VHL tumor-suppressor gene by DNA methylation in renal carcinoma.
Herman JG, Latif F, Weng Y, Lerman MI, Zbar B, Liu S, Samid D, Duan DS, Gnarra JR, Linehan WM, et al.
Proc Natl Acad Sci U S A 91 : 9700-9704. 1994
192VHL
Somatic mutations of the Von Hippel-Lindau tumor suppressor gene in sporadic central nervous system hemangioblastomas.
Kanno H, Kondo K, Ito S, Yamamoto I, Fujii S, Torigoe S, Sakai N, Hosaka M, Shuin T, Yao M.
Cancer Res 54 : 4845-4847. 1994
193VHL, TSG3B, DLEC1
Transfer of human chromosome 3 to an ovarian carcinoma cell line identifies three regions on 3p involved in ovarian cancer.
Rimessi P, Gualandi F, Morelli C, Trabanelli C, Wu Q, Possati L, Montesi M, Barrett JC, Barbanti-Brodano G.
Oncogene 9 : 3467-3474. 1994
194VHL, RCC1
Somatic mutations of the von Hippel-Lindau disease tumour suppressor gene in non-familial clear cell renal carcinoma.
Foster K, Prowse A, van den Berg A, Fleming S, Hulsbeek MM, Crossey PA, Richards FM, Cairns P, Affara NA, Ferguson-Smith MA, et al.
Hum Mol Genet 3 : 2169-2173. 1994
195VHL, RCC1
Germ-line mutations in the von Hippel-Lindau tumor-suppressor gene are similar to somatic von Hippel-Lindau aberrations in sporadic renal cell carcinoma.
Whaley JM, Naglich J, Gelbert L, Hsia YE, Lamiell JM, Green JS, Collins D, Neumann HP, Laidlaw J, Li FP, et al.
Am J Hum Genet 55 : 1092-1102. 1994
196VHL, RCC1
Cytogenetic and fluorescence in situ hybridization studies on sporadic and hereditary tumors associated with von Hippel-Lindau syndrome (VHL).
Decker HJ, Klauck SM, Lawrence JB, McNeil J, Smith D, Gemmill RM, Sandberg AA, Neumann HH, Simon B, Green J, et al.
Cancer Genet Cytogenet 77 : 1-13. 1994
197VHL, D3S1038, D3S1110, D3S651
Genetic linkage between Von Hippel-Lindau disease and three microsatellite polymorphisms refines the localisation of the VHL locus.
Crossey PA, et al.
Hum Mol Genet 2 : 279-282. 1993
198VHL, ATP2B2
Von Hippel-Lindau syndrome : cloning and identification of the plasma membrane Ca++-transporting ATPase isoform 2 gene that resides in the Von Hippel-Lindau gene region.
Latif F, et al.
Cancer Res 53 : 861-867. 1993
199VHL
Von Hippel-Lindau disease : identification of deletion mutations by pulsed-field gel electrophoresis.
Yao M, et al.
Hum Genet 92 : 605-614. 1993
200VHL
Identification of the von Hippel-Lindau disease tumor suppressor gene.
Latif F, Tory K, Gnarra J, Yao M, Duh FM, Orcutt ML, Stackhouse T, Kuzmin I, Modi W, Geil L, et al.
Science 260 : 1317-1320. 1993
201VHL
Mapping the von Hippel-Lindau disease tumour suppressor gene : identification of germline deletions by pulsed field gel electrophoresis.
Richards FM, Phipps ME, Latif F, Yao M, Crossey PA, Foster K, Linehan WM, Affara NA, Lerman MI, Zbar B, et al.
Hum Mol Genet 2 : 879-882. 1993
202VHL
Detailed genetic mapping of the von Hippel-Lindau disease tumour suppressor gene.
Richards FM, et al.
J Med Genet 30 : 104-107. 1993
203VHL, RAF1
Physical mapping of chromosome 3p25-p26 by fluorescence in situ hybridisation (FISH).
Phipps ME, et al.
Hum Genet 92 : 18-22. 1993
204VHL
The isolation of a yeast artificial chromosome (YAC) contig extending for 2 megabases in the vicinity of the Von Hippel Lindau disease gene.
Liu W, et al.
Hum Mol Genet 2 : 1177-1182. 1993
205RAF1, VHL, D3S1255
Genetic mapping of dinucleotide repeat polymorphisms and von Hippel-Lindau disease on chromosome 3p25-26.
Pericak-Vance MA, et al.
J Med Genet 30 : 487-491. 1993
206VHL
Long range restriction map of the von Hippel-Lindau gene region on human chromosome 3p.
Szymanski SC, et al.
Hum Genet 92 : 282-288. 1993
207VHL
Taql and Pstl RFLPs in the von Hippel-Lindau disease gene (VHL).
Richards FM, et al.
Hum Mol Genet 2 : 1750. 1993
208VHL, TSG3B, DLEC1
Three distinct regions involved in 3p deletion in human lung cancer.
Hibi K, Takahashi T, Yamakawa K, Ueda R, Sekido Y, Ariyoshi Y, Suyama M, Takagi H, Nakamura Y, Takahashi T.
Oncogene 7 : 445-449. 1992
209VHL
cA479 (D3S719): a cosmid mapped telomeric of the von Hippel Lindau disease gene contains the D3S18 locus.
Liu W, Vance J, Smith DI.
Hum Mol Genet 1 : 201. 1992
210VHL
VHL is located close to D3S601 in the interval between RAF1 and D3S18.
Latif F, et al.
Am J Hum Genet 51 : A63. 1992
211VHL
Molecular cloning of the von Hippel-Lindau tumor suppressor gene region : isolation and analysis of cDNAs encoded in the region.
Lerman MI, et al.
Am J Hum Genet 51 : A63. 1992
212VHL
Genetic mapping of dinucleotide repeat polymorphisms and von Hippel Lindau disease on chromosome 3p25-26.
Vance JM, et al.
Am J Hum Genet 51 : A203. 1992
213VHL
Presymptomatic diagnosis of von Hippel-Lindau disease with flanking DNA markers.
Maher ER, et al.
J Med Genet 29 : 902-905. 1992
214VHL
Clustering of features of von Hippel-Lindau syndrome : evidence for a complex genetic locus.
Neumann HPH, et al.
Lancet 337 : 1052-1054. 1991
215VHL
Genetic flanking markers refine diagnostic criteria and provide insights into genetics of von Hippel Lindau disease.
Seizinger BR, et al.
Proc Natl Acad Sci U S A 88 : 2864-2868. 1991
216VHL
von Hippel-Lindau (VHL) disease : distinct phenotypes suggest more than mutant allele at the VHL locus.
Glenn GM, et al.
Hum Genet 87 : 207-210. 1991
217VHL
Mapping of the von Hippel-Lindau disease locus to a small region of chromosome 3p by genetic linkage analysis.
Maher Er, et al.
Genomics 10 : 957-960. 1991
218VHL, RAF1
New RFLP markers around the von Hippel-Lindau disease (VHL) locus.
Lerman M, et al.
(HGM11) Cytogenet Cell Genet 58 : 1878. 1991
219VHL
Genetic linkage analysis of von Hippel-Lindau disease.
Maher ER, et al.
(HGM11) Cytogenet Cell Genet 58 : 1879. 1991
220VHL
Physical mapping the putative VHL-gene region.
Szymanski S, et al.
(HGM11) Cytogenet Cell Genet 58 : 1882. 1991
221VHL
Cytogenetics of renal cell carcinomas associated with von Hippel-Lindau disease.
Kovacs G, Emanuel A, Neumann HP, Kung HF.
Genes Chromosomes Cancer 3 : 256-262. 1991
222PTC1, VHL
Cytogenetic and molecular genetic studies of follicular and papillary thyroid cancers.
Herrmann MA, Hay ID, Bartelt DH Jr, Ritland SR, Dahl RJ, Grant CS, Jenkins RB.
J Clin Invest 88 : 1596-1604. 1991
223VHL, TSG3B
Allelic loss at chromosome 3p characterizes clear cell phenotype of renal cell carcinoma.
Ogawa O, Kakehi Y, Ogawa K, Koshiba M, Sugiyama T, Yoshida O.
Cancer Res 51 : 949-953. 1991
224VHL, TSG3B, DLEC1
Histopathological, cytogenetic, and molecular characterization of renal cortical tumors.
Presti JC Jr, Rao PH, Chen Q, Reuter VE, Li FP, Fair WR, Jhanwar SC.
Cancer Res 51 : 1544-1552. 1991
225VHL
Confirmation of linkage in von Hippel-Lindau disease.
Vance JM, et al.
Genomics 6 : 565-567. 1990
226VHL
Statistical analysis of the two stage mutation model in von Hippel-Lindau disease, and in sporadic cerebellar haemangioblastoma and renal cell carcinoma.
Maher ER, Yates JR, Ferguson-Smith MA.
J Med Genet 27 : 311-314. 1990
227VHL
A single recombination event between the von Hippel-Lindau disease (VHL) gene and D3S18 suggests a map location for the gene in the interval between RAF1 (3p25) and D3S18 (3p26) loci on human chromosome 3.
Latif F, et al.
Am J Hum Genet 47 : A11. 1990
228VHL
Toward the isolation of the gene causing von Hippel-Lindau disease: identification of tightly linked flanking markers.
Seizinger BR, et al.
Am J Hum Genet 47 : A17. 1990
229VHL
Localization of the von Hippel-Lindau disease gene to a small region of chromosome 3.
Hosoe S, et al.
Genomics 8 : 634-640. 1990
230VHL
Mapping of von Hippel-Lindau disease to chromosome 3p confirmed by genetic linkage analysis.
Maher ER, et al.
J Neurol Sci 100 : 27-30. 1990
231VHL
Linkage studies in von Hippel Lindau disease.
Vance JM, et al.
(HGM10) Cytogenet Cell Genet 51 : 1097. 1989
232VHL, RCC1
Loss of heterozygosity on 3p in a renal cell carcinoma in von Hippel-Lindau syndrome.
Decker HJ, Gemmill RM, Neumann HP, Walter TA, Sandberg AA.
Cancer Genet Cytogenet 39 : 289-293. 1989
233VHL, TSG3B, TSG17A
Differential DNA sequence deletions from chromosomes 3, 11, 13, and 17 in squamous-cell carcinoma, large-cell carcinoma, and adenocarcinoma of the human lung.
Weston A, Willey JC, Modali R, Sugimura H, McDowell EM, Resau J, Light B, Haugen A, Mann DL, Trump BF, et al.
Proc Natl Acad Sci U S A 86 : 5099-5103. 1989
234VHL
von Hippel-Lindau disease maps to the region of chromosome 3 associated with renal cell carcinoma.
Seizinger BR, et al.
Nature 332 : 268-269. 1988
235VHL
Linkage studies of von Hippel-Lindau syndrome using multiple-locus hypervariable DNA probes.
Wells RA, et al.
(HGM9) Cytogenet Cell Genet 46 : 714. 1987