"Identification of the von Hippel-Lindau disease tumor suppressor gene."
Latif F. , Tory K. , Gnarra J. , Yao M. , Duh F.-M. , Orcutt M.L. , Stackhouse T. , Kuzmin I. , Modi W. , Geil L. , Schmidt L. , Zhou F. , Li H. , Wei M.H. , Chen F. , Glenn G. , Choyke P. , Walther M.M. , Weng Y. , Duan D.-S.R. , Dean M. , Glavac D. , Richards F.M. , Crossey P.A. , Ferguson-Smith M.A. , le Paslier D. , Chumakov I. , Cohen D. , Chinault A.C. , Maher E.R. , Linehan W.M. , Zbar B. , Lerman M.I. more...
Science260:1317-1320(1993) [PubMed] [Europe PMC] [Abstract]

"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T. , Suzuki Y. , Nishikawa T. , Otsuki T. , Sugiyama T. , Irie R. , Wakamatsu A. , Hayashi K. , Sato H. , Nagai K. , Kimura K. , Makita H. , Sekine M. , Obayashi M. , Nishi T. , Shibahara T. , Tanaka T. , Ishii S. , Yamamoto J. , Saito K. , Kawai Y. , Isono Y. , Nakamura Y. , Nagahari K. , Murakami K. , Yasuda T. , Iwayanagi T. , Wagatsuma M. , Shiratori A. , Sudo H. , Hosoiri T. , Kaku Y. , Kodaira H. , Kondo H. , Sugawara M. , Takahashi M. , Kanda K. , Yokoi T. , Furuya T. , Kikkawa E. , Omura Y. , Abe K. , Kamihara K. , Katsuta N. , Sato K. , Tanikawa M. , Yamazaki M. , Ninomiya K. , Ishibashi T. , Yamashita H. , Murakawa K. , Fujimori K. , Tanai H. , Kimata M. , Watanabe M. , Hiraoka S. , Chiba Y. , Ishida S. , Ono Y. , Takiguchi S. , Watanabe S. , Yosida M. , Hotuta T. , Kusano J. , Kanehori K. , Takahashi-Fujii A. , Hara H. , Tanase T.-O. , Nomura Y. , Togiya S. , Komai F. , Hara R. , Takeuchi K. , Arita M. , Imose N. , Musashino K. , Yuuki H. , Oshima A. , Sasaki N. , Aotsuka S. , Yoshikawa Y. , Matsunawa H. , Ichihara T. , Shiohata N. , Sano S. , Moriya S. , Momiyama H. , Satoh N. , Takami S. , Terashima Y. , Suzuki O. , Nakagawa S. , Senoh A. , Mizoguchi H. , Goto Y. , Shimizu F. , Wakebe H. , Hishigaki H. , Watanabe T. , Sugiyama A. , Takemoto M. , Kawakami B. , Yamazaki M. , Watanabe K. , Kumagai A. , Itakura S. , Fukuzumi Y. , Fujimori Y. , Komiyama M. , Tashiro H. , Tanigami A. , Fujiwara T. , Ono T. , Yamada K. , Fujii Y. , Ozaki K. , Hirao M. , Ohmori Y. , Kawabata A. , Hikiji T. , Kobatake N. , Inagaki H. , Ikema Y. , Okamoto S. , Okitani R. , Kawakami T. , Noguchi S. , Itoh T. , Shigeta K. , Senba T. , Matsumura K. , Nakajima Y. , Mizuno T. , Morinaga M. , Sasaki M. , Togashi T. , Oyama M. , Hata H. , Watanabe M. , Komatsu T. , Mizushima-Sugano J. , Satoh T. , Shirai Y. , Takahashi Y. , Nakagawa K. , Okumura K. , Nagase T. , Nomura N. , Kikuchi H. , Masuho Y. , Yamashita R. , Nakai K. , Yada T. , Nakamura Y. , Ohara O. , Isogai T. , Sugano S. more...
Nat. Genet.36:40-45(2004) [PubMed] [Europe PMC] [Abstract]

"The DNA sequence, annotation and analysis of human chromosome 3."
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Nature440:1194-1198(2006) [PubMed] [Europe PMC] [Abstract]

Mural R.J. , Istrail S. , Sutton G.G. , Florea L. , Halpern A.L. , Mobarry C.M. , Lippert R. , Walenz B. , Shatkay H. , Dew I. , Miller J.R. , Flanigan M.J. , Edwards N.J. , Bolanos R. , Fasulo D. , Halldorsson B.V. , Hannenhalli S. , Turner R. , Yooseph S. , Lu F. , Nusskern D.R. , Shue B.C. , Zheng X.H. , Zhong F. , Delcher A.L. , Huson D.H. , Kravitz S.A. , Mouchard L. , Reinert K. , Remington K.A. , Clark A.G. , Waterman M.S. , Eichler E.E. , Adams M.D. , Hunkapiller M.W. , Myers E.W. , Venter J.C. more...
Submitted (2005-07) to the EMBL/GenBank/DDBJ databases

"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res.14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]

Wenzel M.
Submitted (1996-04) to the EMBL/GenBank/DDBJ databases

"Expression of the von Hippel-Lindau disease tumour suppressor gene during human embryogenesis."
Richards F.M. , Schofield P.N. , Fleming S. , Maher E.R.
Hum. Mol. Genet.5:639-644(1996) [PubMed] [Europe PMC] [Abstract]

"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. , Lee S. , Worrel R. , Chen D.Y.T. , Burgess W.H. , Linehan W.M. , Klausner R.D.
Proc. Natl. Acad. Sci. U.S.A.94:2156-2161(1997) [PubMed] [Europe PMC] [Abstract]

"A second major native von Hippel-Lindau gene product, initiated from an internal translation start site, functions as a tumor suppressor."
Schoenfeld A. , Davidowitz E.J. , Burk R.D.
Proc. Natl. Acad. Sci. U.S.A.95:8817-8822(1998) [PubMed] [Europe PMC] [Abstract]

"Binding of the von Hippel-Lindau tumor suppressor protein to Elongin B and C."
Kibel A. , Iliopoulos O. , DeCaprio J.A. , Kaelin W.G. Jr.
Science269:1444-1446(1995) [PubMed] [Europe PMC] [Abstract]

"pVHL19 is a biologically active product of the von Hippel-Lindau gene arising from internal translation initiation."
Iliopoulos O. , Ohh M. , Kaelin W.G. Jr.
Proc. Natl. Acad. Sci. U.S.A.95:11661-11666(1998) [PubMed] [Europe PMC] [Abstract]

"Formation of the VHL-elongin BC tumor suppressor complex is mediated by the chaperonin TRiC."
Feldman D.E. , Thulasiraman V. , Ferreyra R.G. , Frydman J.
Mol. Cell4:1051-1061(1999) [PubMed] [Europe PMC] [Abstract]

"Mechanism of regulation of the hypoxia-inducible factor-1 alpha by the von Hippel-Lindau tumor suppressor protein."
Tanimoto K. , Makino Y. , Pereira T. , Poellinger L.
EMBO J.19:4298-4309(2000) [PubMed] [Europe PMC] [Abstract]

"Muf1, a novel elongin BC-interacting leucine-rich repeat protein that can assemble with Cul5 and Rbx1 to reconstitute a ubiquitin ligase."
Kamura T. , Burian D. , Yan Q. , Schmidt S.L. , Lane W.S. , Querido E. , Branton P.E. , Shilatifard A. , Conaway R.C. , Conaway J.W.
J. Biol. Chem.276:29748-29753(2001) [PubMed] [Europe PMC] [Abstract]

"FIH-1: a novel protein that interacts with HIF-1alpha and VHL to mediate repression of HIF-1 transcriptional activity."
Mahon P.C. , Hirota K. , Semenza G.L.
Genes Dev.15:2675-2686(2001) [PubMed] [Europe PMC] [Abstract]

"Ubiquitination of a novel deubiquitinating enzyme requires direct binding to von Hippel-Lindau tumor suppressor protein."
Li Z. , Na X. , Wang D. , Schoen S.R. , Messing E.M. , Wu G.
J. Biol. Chem.277:4656-4662(2002) [PubMed] [Europe PMC] [Abstract]

"The von Hippel-Lindau tumor suppressor stabilizes novel plant homeodomain protein Jade-1."
Zhou M.I. , Wang H. , Ross J.J. , Kuzmin I. , Xu C. , Cohen H.T.
J. Biol. Chem.277:39887-39898(2002) [PubMed] [Europe PMC] [Abstract]

"The TRC8 hereditary kidney cancer gene suppresses growth and functions with VHL in a common pathway."
Gemmill R.M. , Bemis L.T. , Lee J.P. , Sozen M.A. , Baron A. , Zeng C. , Erickson P.F. , Hooper J.E. , Drabkin H.A.
Oncogene21:3507-3516(2002) [PubMed] [Europe PMC] [Abstract]

"SUMO-specific protease 1 is essential for stabilization of HIF1alpha during hypoxia."
Cheng J. , Kang X. , Zhang S. , Yeh E.T.H.
Cell131:584-595(2007) [PubMed] [Europe PMC] [Abstract]

"Erythrocytosis-associated HIF-2alpha mutations demonstrate a critical role for residues C-terminal to the hydroxylacceptor proline."
Furlow P.W. , Percy M.J. , Sutherland S. , Bierl C. , McMullin M.F. , Master S.R. , Lappin T.R. , Lee F.S.
J. Biol. Chem.284:9050-9058(2009) [PubMed] [Europe PMC] [Abstract]

"Oxygen-regulated beta(2)-adrenergic receptor hydroxylation by EGLN3 and ubiquitylation by pVHL."
Xie L. , Xiao K. , Whalen E.J. , Forrester M.T. , Freeman R.S. , Fong G. , Gygi S.P. , Lefkowitz R.J. , Stamler J.S.
Sci. Signal.2:RA33-RA33(2009) [PubMed] [Europe PMC] [Abstract]

"The LIMD1 protein bridges an association between the prolyl hydroxylases and VHL to repress HIF-1 activity."
Foxler D.E. , Bridge K.S. , James V. , Webb T.M. , Mee M. , Wong S.C. , Feng Y. , Constantin-Teodosiu D. , Petursdottir T.E. , Bjornsson J. , Ingvarsson S. , Ratcliffe P.J. , Longmore G.D. , Sharp T.V.
Nat. Cell Biol.14:201-208(2012) [PubMed] [Europe PMC] [Abstract]

"Structure of an HIF-1alpha-pVHL complex: hydroxyproline recognition in signaling."
Min J.-H. , Yang H. , Ivan M. , Gertler F. , Kaelin W.G. Jr. , Pavletich N.P.
Science296:1886-1889(2002) [PubMed] [Europe PMC] [Abstract]

"Structural basis for the recognition of hydroxyproline in HIF-1 alpha by pVHL."
Hon W.-C. , Wilson M.I. , Harlos K. , Claridge T.D.W. , Schofield C.J. , Pugh C.W. , Maxwell P.H. , Ratcliffe P.J. , Stuart D.I. , Jones E.Y.
Nature417:975-978(2002) [PubMed] [Europe PMC] [Abstract]

"Structure of the VHL-ElonginC-ElonginB complex: implications for VHL tumor suppressor function."
Stebbins C.E. , Kaelin W.G. Jr. , Pavletich N.P.
Science284:455-461(1999) [PubMed] [Europe PMC] [Abstract]

"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) [PubMed] [Europe PMC] [Abstract]

"Molecular analysis of the von Hippel-Lindau disease tumor suppressor gene in human lung cancer cell lines."
Sekido Y. , Bader S. , Latif F. , Gnarra J.R. , Gazdar A.F. , Linehan W.M. , Zbar B. , Lerman M.I. , Minna J.D.
Oncogene9:1599-1604(1994) [PubMed] [Europe PMC] [Abstract]

"Identification of intragenic mutations in the von Hippel-Lindau disease tumour suppressor gene and correlation with disease phenotype."
Crossey P.A. , Richards F.M. , Foster K. , Green J.S. , Prowse A. , Latif F. , Lerman M.I. , Zbar B. , Affara N.A. , Ferguson-Smith M.A. , Maher E.R.
Hum. Mol. Genet.3:1303-1308(1994) [PubMed] [Europe PMC] [Abstract]

"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 J.R. , Orcutt M.L. , Duh F.-M. , Glenn G. , Green J.S. , Hsia Y.E. , Lamiell J. , Li H. , Wei M.H. , Schmidt L. , Tory K. , Kuzmin I. , Stackhouse T. , Latif F. , Linehan W.M. , Lerman M.I. , Zbar B. more...
Hum. Mutat.5:66-75(1995) [PubMed] [Europe PMC] [Abstract]

"Germline mutations in the von Hippel-Lindau disease (VHL) gene in Japanese VHL. Clinical Research Group for VHL in Japan."
Kondo K. , Sakai N. , Kaneko S. , Kobayashi K. , Hosaka M. , Ito S. , Fujii S. , Yamamoto I. , Kim I. , Miyagami M. , Shidara N. , Shinohara N. , Koyanagi T. , Kato N. , Yamanaka H. , Kuratu J. , Fujioka M. , Nakatsu H. , Shimazaki J. , Yoshida J. , Sugita K. , Hirao Y. , Okajima E. , Tanigawa T. , Sato S. , Fujino H. , Nagata M. , Kanayama H. , Kagawa S. , Yamashima T. , Furuta T. , Saito Y. , Kanno H. , Yao M. , Shuin T. more...
Hum. Mol. Genet.4:2233-2237(1995) [PubMed] [Europe PMC] [Abstract]

"Molecular genetic diagnosis of von Hippel-Lindau disease in familial phaeochromocytoma."
Crossey P.A. , Eng C. , Ginalska-Malinowska M. , Lennard T.W.J. , Wheeler D.C. , Ponder B.A.J. , Maher E.R.
J. Med. Genet.32:885-886(1995) [PubMed] [Europe PMC] [Abstract]

"Mutations in the RET proto-oncogene and the von Hippel-Lindau disease tumour suppressor gene in sporadic and syndromic phaeochromocytomas."
Eng C. , Crossey P.A. , Mulligan L.M. , Healey C.S. , Houghton C. , Prowse A. , Chew S.L. , Dahia P.L.M. , O'Riordan J.L.H. , Toledo S.P.A. , Smith D.P. , Maher E.R. , Ponder B.A.J.
J. Med. Genet.32:934-937(1995) [PubMed] [Europe PMC] [Abstract]

"Phenotypic expression in von Hippel-Lindau disease: correlations with germline VHL gene mutations."
Maher E.R. , Webster A.R. , Richards F.M. , Green J.S. , Crossey P.A. , Payne S.J. , Moore A.T.
J. Med. Genet.33:328-332(1996) [PubMed] [Europe PMC] [Abstract]

"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 E.R. , Richards F.M. , Crossey P.A. , Webster A.R. , Affara N.A. , Ferguson-Smith M.A. , Brauch H. , Glavac D. , Neumann H.P.H. , Tisherman S. , Mulvihill J.J. , Gross D.J. , Shuin T. , Whaley J. , Seizinger B. , Kley N. , Olschwang S. , Boisson C. , Richard S. , Lips C.H.M. , Linehan W.M. , Lerman M.I. more...
Hum. Mutat.8:348-357(1996) [PubMed] [Europe PMC] [Abstract]

"Germline mutations detected in the von Hippel-Lindau disease tumor suppressor gene by Southern blot and direct genomic DNA sequencing."
Li C. , Weber G. , Ekman P. , Lagercrantz J. , Norlen B.J. , Aakerstroem G. , Nordenskjoeld M. , Bergerheim U.S.R.
Hum. Mutat. Suppl.1:S31-S33(1998) [PubMed] [Europe PMC] [Abstract]

"Three novel mutations in the von Hippel-Lindau tumour suppressor gene in Italian patients."
Mandich P. , Montera M. , Bellone E. , Trojani A. , Daniele S. , Ajmar F.
Hum. Mutat. Suppl.1:S268-S270(1998) [PubMed] [Europe PMC] [Abstract]

"Variable penetrance of familial pheochromocytoma associated with the von Hippel-Lindau gene mutation, S68W."
Martin R. , Hockey A. , Walpole I. , Goldblatt J.
Hum. Mutat.12:71-71(1998) [PubMed] [Europe PMC] [Abstract]

"Improved detection of germline mutations in the von Hippel-Lindau disease tumor suppressor gene."
Stolle C. , Glenn G. , Zbar B. , Humphrey J.S. , Choyke P. , Walther M. , Pack S. , Hurley K. , Andrey C. , Klausner R. , Linehan W.M.
Hum. Mutat.12:417-423(1998) [PubMed] [Europe PMC] [Abstract]

"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) [PubMed] [Europe PMC] [Abstract]

"Germline mutations in the vhl gene in patients presenting with phaeochromocytomas."
van der Harst E. , de Krijger R.R. , Dinjens W.N.M. , Weeks L.E. , Bonjer H.J. , Bruining H.A. , Lamberts S.W.J. , Koper J.W.
Int. J. Cancer77:337-340(1998) [PubMed] [Europe PMC] [Abstract]

Murigia M.

"Two distinct phenotypes caused by two different missense mutations in the same codon of the VHL gene."
Bradley J.F. , Collins D.L. , Schimke R.N. , Parrott H.N. , Rothberg P.G.
Am. J. Med. Genet.87:163-167(1999) [PubMed] [Europe PMC] [Abstract]

"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 M.T. , Bouvier R. , Droz D. , Chretien Y. , Marechal J.M. , Richard S. , Junien C. , Beroud C.
Hum. Mutat.13:464-475(1999) [PubMed] [Europe PMC] [Abstract]

"Paraneoplastic erythrocytosis associated with an inactivating point mutation of the von Hippel-Lindau gene in a renal cell carcinoma."
Wiesener M.S. , Seyfarth M. , Warnecke C. , Juergensen J.S. , Rosenberger C. , Morgan N.V. , Maher E.R. , Frei U. , Eckardt K.-U.
Blood99:3562-3565(2002) [PubMed] [Europe PMC] [Abstract]

"Germ-line mutations in nonsyndromic pheochromocytoma."
The Freiburg-Warsaw-Columbus pheochromocytoma study group , Neumann H.P.H. , Bausch B. , McWhinney S.R. , Bender B.U. , Gimm O. , Franke G. , Schipper J. , Klisch J. , Altehoefer C. , Zerres K. , Januszewicz A. , Smith W.M. , Munk R. , Manz T. , Glaesker S. , Apel T.W. , Treier M. , Reineke M. , Walz M.K. , Hoang-Vu C. , Brauckhoff M. , Klein-Franke A. , Klose P. , Schmidt H. , Maier-Woelfle M. , Peczkowska M. , Szmigielski C. , Eng C. more...
N. Engl. J. Med.346:1459-1466(2002) [PubMed] [Europe PMC] [Abstract]

"Mutations of von Hippel-Lindau tumor-suppressor gene and congenital polycythemia."
Pastore Y.D. , Jedlickova K. , Guan Y. , Liu E. , Fahner J. , Hasle H. , Prchal J.F. , Prchal J.T.
Am. J. Hum. Genet.73:412-419(2003) [PubMed] [Europe PMC] [Abstract]

"Mutations in the SDHB gene are associated with extra-adrenal and/or malignant phaeochromocytomas."
Gimenez-Roqueplo A.-P. , Favier J. , Rustin P. , Rieubland C. , Crespin M. , Nau V. , Khau Van Kien P. , Corvol P. , Plouin P.-F. , Jeunemaitre X.
Cancer Res.63:5615-5621(2003) [PubMed] [Europe PMC] [Abstract]

Pastore Y.D. , Jedlickova K. , Guan Y. , Liu E. , Fahner J. , Hasle H. , Prchal J.F. , Prchal J.T.
Am. J. Hum. Genet.74:598-598(2004)

"Mutations in the VHL gene in sporadic apparently congenital polycythemia."
Pastore Y.D. , Jelinek J. , Ang S. , Guan Y. , Liu E. , Jedlickova K. , Krishnamurti L. , Prchal J.T.
Blood101:1591-1595(2003) [PubMed] [Europe PMC] [Abstract]

"The von Hippel-Lindau (VHL) germline mutation V84L manifests as early-onset bilateral pheochromocytoma."
Abbott M.-A. , Nathanson K.L. , Nightingale S. , Maher E.R. , Greenstein R.M.
Am. J. Med. Genet. A140:685-690(2006) [PubMed] [Europe PMC] [Abstract]

"Patterns of somatic mutation in human cancer genomes."
Greenman C. , Stephens P. , Smith R. , Dalgliesh G.L. , Hunter C. , Bignell G. , Davies H. , Teague J. , Butler A. , Stevens C. , Edkins S. , O'Meara S. , Vastrik I. , Schmidt E.E. , Avis T. , Barthorpe S. , Bhamra G. , Buck G. , Choudhury B. , Clements J. , Cole J. , Dicks E. , Forbes S. , Gray K. , Halliday K. , Harrison R. , Hills K. , Hinton J. , Jenkinson A. , Jones D. , Menzies A. , Mironenko T. , Perry J. , Raine K. , Richardson D. , Shepherd R. , Small A. , Tofts C. , Varian J. , Webb T. , West S. , Widaa S. , Yates A. , Cahill D.P. , Louis D.N. , Goldstraw P. , Nicholson A.G. , Brasseur F. , Looijenga L. , Weber B.L. , Chiew Y.-E. , DeFazio A. , Greaves M.F. , Green A.R. , Campbell P. , Birney E. , Easton D.F. , Chenevix-Trench G. , Tan M.-H. , Khoo S.K. , Teh B.T. , Yuen S.T. , Leung S.Y. , Wooster R. , Futreal P.A. , Stratton M.R. more...
Nature446:153-158(2007) [PubMed] [Europe PMC] [Abstract]