References
- Kim JJ, Rini BI, Hansel DE. Von Hippel Lindau syndrome. Advances in Experimental Medicine and Biology 2010;685:228-249. Available from: http://www.ncbi.nlm.nih.gov/pubmed/20687511. [last accessed 12 Apr 2013]
- Rasmussen A, Alonso E, Ochoa A, et al. Uptake of genetic testing and long-term tumor surveillance in von Hippel-Lindau disease. BMC Medical Genetics 2010;11:4
- Von Hippel E. Über eine sehr seltene Erkrankung der Netzhaut. Klin Beobachtungen Arch Ophthalmol 1904;59:83–106
- Lindau A. Zur Frage der Angiomatosis retinae und ihrer Hirnkomplikationen. Acta Ophthalmol 1927;4:193–226
- Maher ER. Von Hippel-Lindau disease. Current Molecular Medicine 2004;4(8):833–842. Available from: http://www.ncbi.nlm.nih.gov/pubmed/15579030. [last accessed 12 Apr 2013]
- Dandanell M, Friis-Hansen L, Sunde L, et al. Identification of 3 novel VHL germ-line mutations in Danish VHL patients. BMC Medical Genetics 2012;13:54
- Neumann HP, Wiestler OD. Clustering of features of von Hippel-Lindau syndrome: evidence for a complex genetic locus. Lancet 1991;337(8749):1052–1054. Available from: http://www.ncbi.nlm.nih.gov/pubmed/1673491. [last accessed 13 Apr 2013]
- Hoffman MA, Ohh M, Yang H, et al. von Hippel-Lindau protein mutants linked to type 2C VHL disease preserve the ability to downregulate HIF. Human Molecular Genetics 2001;10(10):1019–1027. Available from: http://www.ncbi.nlm.nih.gov/pubmed/11331612. [last accessed 12 Apr 2013]
- Brauch H, Kishida T, Glavac D, et al. Von Hippel-Lindau (VHL) disease with pheochromocytoma in the Black Forest region of Germany: Evidence for a founder effect. Human Genetics 1995;95(5):551–556. Available from: http://www.ncbi.nlm.nih.gov/pubmed/7759077. [last accessed 7 Mar 2013]
- Chew EY. Ocular manifestations of von Hippel-Lindau disease: Clinical and genetic investigations. Transactions of the American Ophthalmological Society 2005;103:495–511. Available from: http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1447586&tool=pmcentrez&rendertype=abstract. [last accessed 12 Apr 2013]
- Chan C-C, Collins ABD, Chew EY. Molecular pathology of eyes with von Hippel-Lindau (VHL) Disease: A review. Retina (Philadelphia, Pa.) 2007;27(1):1–7
- Stebbins CE, Kaelin WG, Pavletich NP. Structure of the VHL-ElonginC-ElonginB complex: Implications for VHL tumor suppressor function. Science (New York, NY) 1999;284(5413):455–461. Available from: http://www.ncbi.nlm.nih.gov/pubmed/10205047. [last accessed 12 Apr 2013]
- Kamura T, Koepp DM, Conrad MN, et al. Rbx1, a component of the VHL tumor suppressor complex and SCF ubiquitin ligase. Science (New York, NY) 1999;284(5414):657–661. Available from: http://www.ncbi.nlm.nih.gov/pubmed/10213691. [last accessed 12 Apr 2013]
- Ohh M, Park CW, Ivan M, et al. Ubiquitination of hypoxia-inducible factor requires direct binding to the beta-domain of the von Hippel-Lindau protein. Nature Cell Biology 2000;2(7):423–427
- Yang H, Minamishima YA, Yan Q, et al. pVHL acts as an adaptor to promote the inhibitory phosphorylation of the NF-kappaB agonist Card9 by CK2. Molecular Cell 2007;28(1):15–27
- Thoma CR, Toso A, Gutbrodt KL, et al. VHL loss causes spindle misorientation and chromosome instability. Nature Cell Biology 2009;11(8):994–1001
- Sharma S V, Lee DY, Li B, et al. A chromatin-mediated reversible drug-tolerant state in cancer cell subpopulations. Cell 2010;141(1):69–80
- Mikhaylova O, Ignacak ML, Barankiewicz TJ, et al. The von Hippel-Lindau tumor suppressor protein and Egl-9-Type proline hydroxylases regulate the large subunit of RNA polymerase II in response to oxidative stress. Molecular and Cellular Biology 2008;28(8):2701–2717
- Semenza GL. Hypoxia-inducible factor 1 (HIF-1) pathway. Science’s STKE: Signal Transduction Knowledge Environment 2007;2007(407):cm8
- Niu X, Zhang T, Liao L, et al. The von Hippel-Lindau tumor suppressor protein regulates gene expression and tumor growth through histone demethylase JARID1C. Oncogene 2012;31(6):776–786
- Semenza GL. Targeting HIF-1 for cancer therapy. Nature Reviews Cancer 2003;3(10):721–732
- Kaelin WG. Molecular basis of the VHL hereditary cancer syndrome. Nature Reviews Cancer 2002;2(9):673–682
- Gergics P, Patocs A, Toth M, et al. Germline VHL gene mutations in Hungarian families with von Hippel-Lindau disease and patients with apparently sporadic unilateral pheochromocytomas. European Journal of Endocrinology/European Federation of Endocrine Societies 2009;161(3):495–502
- Nordstrom-O’Brien M, Van der Luijt RB, Van Rooijen E, et al. Genetic analysis of von Hippel-Lindau disease. Human Mutation 2010;31(5):521–537. Available from: http://www.ncbi.nlm.nih.gov/pubmed/20151405. [last accessed 4 Mar 2013]
- Crossey PA, Eng C, Ginalska-Malinowska M, et al. Molecular genetic diagnosis of von Hippel-Lindau disease in familial phaeochromocytoma. Journal of Medical Genetics 1995;32(11):885–886. Available from: http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1051741&tool=pmcentrez&rendertype=abstract. [last accessed 12 Apr 2013]
- Woodward ER, Eng C, McMahon R, et al. Genetic predisposition to phaeochromocytoma: analysis of candidate genes GDNF, RET and VHL. Human Molecular Genetics 1997;6(7):1051–1056. Available from: http://www.ncbi.nlm.nih.gov/pubmed/9215674. [last accessed 12 Apr 2013]
- Champion KJ, Guinea M, Dammai V, Hsu T. Endothelial function of von Hippel-Lindau tumor suppressor gene: Control of fibroblast growth factor receptor signaling. Cancer Research 2008;68(12):4649–4657
- Chan DA, Sutphin PD, Denko NC, Giaccia AJ. Role of prolyl hydroxylation in oncogenically stabilized hypoxia-inducible factor-1alpha. The Journal of Biological Chemistry 2002;277(42):40112–40117
- Mack FA, Rathmell WK, Arsham AM, et al. Loss of pVHL is sufficient to cause HIF dysregulation in primary cells but does not promote tumor growth. Cancer Cell 2003;3(1):75–88. Available from: http://www.ncbi.nlm.nih.gov/pubmed/12559177. [last accessed 12 Apr 2013]
- Iliopoulos O, Levy AP, Jiang C, et al. Negative regulation of hypoxia-inducible genes by the von Hippel-Lindau protein. Proceedings of the National Academy of Sciences of the United States of America 1996;93(20):10595–10599. Available from: http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=38198&tool=pmcentrez&rendertype=abstract. [last accessed 12 Apr 2013]
- Gnarra JR, Duan DR, Weng Y, et al. Molecular cloning of the von Hippel-Lindau tumor suppressor gene and its role in renal carcinoma. Biochimica et Biophysica Acta 1996;1242(3):201–210. Available from: http://www.ncbi.nlm.nih.gov/pubmed/8603073. [last accessed 12 Apr 2013]
- Park S, Chan C-C. Von Hippel-Lindau disease (VHL): A need for a murine model with retinal hemangioblastoma. Histology and Histopathology 2012;27(8):975–984. Available from: http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=3407271&tool=pmcentrez&rendertype=abstract. [last accessed 12 Apr 2013]
- Zhang H, Qian DZ, Tan YS, et al. Digoxin and other cardiac glycosides inhibit HIF-1alpha synthesis and block tumor growth. Proceedings of the National Academy of Sciences of the United States of America 2008;105(50):19579–19586
- Bhat Singh R, Amare Kadam PS. Investigation of tumor suppressor genes apart from VHL on 3p by deletion mapping in sporadic clear cell renal cell carcinoma (cRCC). Urologic Oncology 2011; http://dx.doi.org/10.1016/j.urolonc.2011.08.012
- Roe J-S, Kim H-R, Hwang I-Y, et al. von Hippel-Lindau protein promotes Skp2 destabilization on DNA damage. Oncogene 2011;30(28):3127–3138
- Escobar B, De Cárcer G, Fernández-Miranda G, et al. Brick1 is an essential regulator of actin cytoskeleton required for embryonic development and cell transformation. Cancer Research 2010;70(22):9349–9359
- Dandanell M, Friis-Hansen L, et al. Identification of 3 novel VHL germ-line mutations in Danish VHL patients. BMC Medical Genetics 2012;13:54
- Nordstrom-O’Brien M, Van der Luijt RB, Van Rooijen E, et al. Genetic analysis of von Hippel-Lindau disease. Human Mutation 2010;31(5):521–537
- Hes FJ, Lips CJ, Van der Luijt RB. Molecular genetic aspects of Von Hippel-Lindau (VHL) disease and criteria for DNA analysis in subjects at risk. The Netherlands Journal of Medicine 2001;59(5):235–243. Available from: http://www.ncbi.nlm.nih.gov/pubmed/11705643. [last accessed 13 Apr 2013]
- Lamiell JM, Salazar FG, Hsia YE. von Hippel-Lindau disease affecting 43 members of a single kindred. Medicine 1989;68(1):1–29. Available from: http://www.ncbi.nlm.nih.gov/pubmed/2642584. [last accessed 13 Apr 2013]
- Lonser RR, Glenn GM, Walther M, et al. von Hippel-Lindau disease. Lancet 2003;361(9374):2059–2067. Available from: http://www.ncbi.nlm.nih.gov/pubmed/12814730. [last accessed 25 Mar 2013]
- Melmon KL, Rosen SW. Lindau’s Disease: Review of the Literature and Study of a Large Kindred. The American Journal of Medicine 1964;36:595–617. Available from: http://www.ncbi.nlm.nih.gov/pubmed/14142412. [last accessed 13 Apr 2013]
- Webster AR, Maher ER, Moore AT. Clinical characteristics of ocular angiomatosis in von Hippel-Lindau disease and correlation with germline mutation. Archives of Ophthalmology 1999;117(3):371–378. Available from: http://www.ncbi.nlm.nih.gov/pubmed/10088816. [last accessed 12 Apr 2013]
- Hes FJ, McKee S, Taphoorn MJ, et al. Cryptic von Hippel-Lindau disease: Germline mutations in patients with haemangioblastoma only. Journal of Medical Genetics 2000;37(12):939–943. Available from: http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1734505&tool=pmcentrez&rendertype=abstract. [last accessed 13 Apr 2013]
- Hogan J, Turner A, Tucker K, Warwick L. Unintended diagnosis of Von Hippel Lindau syndrome using Array Comparative Genomic Hybridization (CGH): Counseling challenges arising from unexpected information. Journal of Genetic Counseling 2013;22(1):22–26
- Choyke PL, Glenn GM, Walther MM, et al. von Hippel-Lindau disease: Genetic, clinical, and imaging features. Radiology 1995;194(3):629–642. Available from: http://www.ncbi.nlm.nih.gov/pubmed/7862955. [last accessed 13 Apr 2013]
- Heimann H, Jmor F, Damato B. Imaging of retinal and choroidal vascular tumours. Eye (London, England) 2013;27(2):208–216. Available from: http://www.ncbi.nlm.nih.gov/pubmed/23196648. [last accessed 18 Mar 2013]
- Shields JA, Decker WL, Sanborn GE, et al. Presumed acquired retinal hemangiomas. Ophthalmology 1983;90(11):1292–1300. Available from: http://www.ncbi.nlm.nih.gov/pubmed/6664668. [last accessed 12 Apr 2013]
- Gaudric A, Krivosic V, Duguid G, et al. Vitreoretinal surgery for severe retinal capillary hemangiomas in von hippel-lindau disease. Ophthalmology 2011;118(1):142–149. Available from: http://www.ncbi.nlm.nih.gov/pubmed/20801520. [last accessed 13 Apr 2013]
- Singh AD, Shields CL, Shields JA. von Hippel-Lindau disease. Survey of Ophthalmology 2001;46(2):117–142. Available from: http://www.ncbi.nlm.nih.gov/pubmed/11578646. [last accessed 12 Apr 2013]
- Fraser L, Watts S, Cargill A, et al. Study comparing two types of screening provision for people with von Hippel-Lindau disease. Familial Cancer 2007;6(1):103–111
- McCabe CM, Flynn HW, Shields CL, et al. Juxtapapillary capillary hemangiomas. Clinical features and visual acuity outcomes. Ophthalmology 2000;107(12):2240–2248. Available from: http://www.ncbi.nlm.nih.gov/pubmed/11097604. [last accessed 12 Apr 2013]
- Inoue M, Yamazaki K, Shinoda K, et al. A clinicopathologic case report on macular hole associated with von Hippel-Lindau disease: A novel ultrastructural finding of wormlike, wavy tangles of filaments. Graefe’s Archive for Clinical and Experimental Ophthalmology = Albrecht von Graefes Archiv für Klinische und Experimentelle Ophthalmologie 2004;242(10):881–886
- Aumiller MS. Juxtapapillary hemangioma: A case report and review of clinical features and management of von Hippel-Lindau disease. Optometry (St. Louis, Mo) 2005;76(8):442–449
- Aumiller MS. Juxtapapillary hemangioma: A case report and review of clinical features and management of von Hippel-Lindau disease. Optometry (St. Louis, Mo) 2005;76(8):442–449
- Toy BC, Agrón E, Nigam D, et al. Longitudinal analysis of retinal hemangioblastomatosis and visual function in ocular von Hippel-Lindau disease. Ophthalmology 2012;119(12):2622–2630. Available from: http://www.ncbi.nlm.nih.gov/pubmed/22906772. [last accessed 13 Apr 2013]
- Wong WT, Agrón E, Coleman HR, et al. Genotype-phenotype correlation in von Hippel-Lindau disease with retinal angiomatosis. Archives of Ophthalmology 2007;125(2):239–245. Available from: http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=3019103&tool=pmcentrez&rendertype=abstract. [last accessed 13 Apr 2013]
- Mettu P, Agrón E, Samtani S, et al. Genotype-phenotype correlation in ocular von Hippel-Lindau (VHL) disease: The effect of missense mutation position on ocular VHL phenotype. Investigative Ophthalmology & Visual Science 2010;51(9):4464–4470. Available from: http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=2941163&tool=pmcentrez&rendertype=abstract. [last accessed 13 Apr 2013]
- Chan CC, Vortmeyer AO, Chew EY, et al. VHL gene deletion and enhanced VEGF gene expression detected in the stromal cells of retinal angioma. Archives of Ophthalmology 1999;117(5):625–630. Available from: http://www.ncbi.nlm.nih.gov/pubmed/10326959. [last accessed 12 Apr 2013]
- Los M, Aarsman CJ, Terpstra L, et al. Elevated ocular levels of vascular endothelial growth factor in patients with von Hippel-Lindau disease. Annals of Oncology: Official Journal of the European Society for Medical Oncology/ESMO 1997;8(10):1015–1022. Available from: http://www.ncbi.nlm.nih.gov/pubmed/9402176. [last accessed 12 Apr 2013]
- Böhling T, Hatva E, Kujala M, et al. Expression of growth factors and growth factor receptors in capillary hemangioblastoma. Journal of Neuropathology and Experimental Neurology 1996;55(5):522–527. Available from: http://www.ncbi.nlm.nih.gov/pubmed/8627342. [last accessed 19 Apr 2013]
- Ivan M, Kaelin WG. The von Hippel-Lindau tumor suppressor protein. Current Opinion in Genetics & Development 2001;11(1):27–34. Available from: http://www.ncbi.nlm.nih.gov/pubmed/11163147. [last accessed 12 Apr 2013]
- Kaelin WG. Cancer: Many vessels, faulty gene. Nature 1999;399(6733):203–204
- Senger DR, Galli SJ, Dvorak AM, et al. Tumor cells secrete a vascular permeability factor that promotes accumulation of ascites fluid. Science (New York, NY) 1983;219(4587):983–985. Available from: http://www.ncbi.nlm.nih.gov/pubmed/6823562. [last accessed 14 Mar 2013]
- Leung DW, Cachianes G, Kuang WJ, et al. Vascular endothelial growth factor is a secreted angiogenic mitogen. Science (New York, NY) 1989;246(4935):1306–1309. Available from: http://www.ncbi.nlm.nih.gov/pubmed/2479986. [last accessed 21 Mar 2013]
- Keck PJ, Hauser SD, Krivi G, et al. Vascular permeability factor, an endothelial cell mitogen related to PDGF. Science (New York, NY) 1989;246(4935):1309–1312. Available from: http://www.ncbi.nlm.nih.gov/pubmed/2479987. [last accessed 6 Mar 2013]
- Aiello LP, George DJ, Cahill MT, et al. Rapid and durable recovery of visual function in a patient with von Hippel-Lindau syndrome after systemic therapy with vascular endothelial growth factor receptor inhibitor su5416. Ophthalmology 2002;109(9):1745–1751. Available from: http://www.ncbi.nlm.nih.gov/pubmed/12208726. [last accessed 12 Apr 2013]
- Ferrara N, Davis-Smyth T. The biology of vascular endothelial growth factor. Endocrine Reviews 1997;18(1):4–25. Available from: http://www.ncbi.nlm.nih.gov/pubmed/9034784. [last accessed 23 Mar 2013]
- Benjamin LE, Keshet E. Conditional switching of vascular endothelial growth factor (VEGF) expression in tumors: Induction of endothelial cell shedding and regression of hemangioblastoma-like vessels by VEGF withdrawal. Proceedings of the National Academy of Sciences of the United States of America 1997;94(16):8761–8766. Available from: http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=23118&tool=pmcentrez&rendertype=abstract. [last accessed 13 Apr 2013]
- Mendel DB, Laird AD, Smolich BD, et al. Development of SU5416, a selective small molecule inhibitor of VEGF receptor tyrosine kinase activity, as an anti-angiogenesis agent. Anti-Cancer Drug Design 2000;15(1):29–41. Available from: http://www.ncbi.nlm.nih.gov/pubmed/10888034. [last accessed 13 Apr 2013]
- Ryan AM, Eppler DB, Hagler KE, et al. Preclinical safety evaluation of rhuMAbVEGF, an antiangiogenic humanized monoclonal antibody. Toxicologic Pathology 1999;27(1):78–86. Available from: http://www.ncbi.nlm.nih.gov/pubmed/10367678. [last accessed 13 Apr 2013]
- Drevs J, Hofmann I, Hugenschmidt H, et al. Effects of PTK787/ZK 222584, a specific inhibitor of vascular endothelial growth factor receptor tyrosine kinases, on primary tumor, metastasis, vessel density, and blood flow in a murine renal cell carcinoma model. Cancer Research 2000;60(17):4819–4824. Available from: http://www.ncbi.nlm.nih.gov/pubmed/10987292. [last accessed 13 Apr 2013]
- Via LE, Gore-Langton RE, Pluda JM. Clinical trials referral resource: Current clinical trials administering the antiangiogenesis agent SU5416. Oncology (Williston Park, NY) 2000;14(9):1312, 1315–6,1321–3. Available from: http://www.ncbi.nlm.nih.gov/pubmed/11033829. [last accessed 13 Apr 2013]
- Chan C-C, Chew EY, Shen D, et al. Expression of stem cells markers in ocular hemangioblastoma associated with von Hippel-Lindau (VHL) disease. Molecular Vision 2005;11:697–704. Available from: http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1876780&tool=pmcentrez&rendertype=abstract. [last accessed 13 Apr 2013]
- Vogel TWA, Brouwers FM, Lubensky IA, et al. Differential expression of erythropoietin and its receptor in von hippel-lindau-associated and multiple endocrine neoplasia type 2-associated pheochromocytomas. The Journal of Clinical Endocrinology and Metabolism 2005;90(6):3747–3751. Available from: http://www.ncbi.nlm.nih.gov/pubmed/15769989. [last accessed 13 Apr 2013]
- Rosenblatt MI, Azar DT. Anti-angiogenic therapy: Prospects for treatment of ocular tumors. Seminars in Ophthalmology 2006;21(3):151–160. Available from: http://www.ncbi.nlm.nih.gov/pubmed/16912013. [last accessed 13 Apr 2013]
- Girmens JF, Erginay A, Massin P, et al. Treatment of von Hippel-Lindau retinal hemangioblastoma by the vascular endothelial growth factor receptor inhibitor SU5416 is more effective for associated macular edema than for hemangioblastomas. American Journal of Ophthalmology 2003;136(1):194–196. Available from: http://www.ncbi.nlm.nih.gov/pubmed/12834696. [last accessed 13 Apr 2013]
- Von Buelow M, Pape S, Hoerauf H. Systemic bevacizumab treatment of a juxtapapillary retinal haemangioma. Acta Ophthalmologica Scandinavica 2007;85(1):114–116. Available from: http://www.ncbi.nlm.nih.gov/pubmed/17244223. [last accessed 13 Apr 2013]
- Melillo G. Targeting hypoxia cell signaling for cancer therapy. Cancer Metastasis Reviews 2007;26(2):341–352. Available from: http://www.ncbi.nlm.nih.gov/pubmed/17415529. [last accessed 13 Apr 2013]