1
|
Maher ER, Neumann HP and Richard S: von
Hippel-Lindau disease: A clinical and scientific review. Eur J Hum
Genet. 19:617–623. 2011. View Article : Google Scholar : PubMed/NCBI
|
2
|
Hes FJ, Höppener JW, Luijt RB and Lips CJ:
Von hippel-lindau disease. Hered Cancer Clin Pract. 3:171–178.
2005. View Article : Google Scholar : PubMed/NCBI
|
3
|
Chen F, Kishida T, Yao M, Hustad T, Glavac
D, Dean M, Gnarra JR, Orcutt ML, Duh FM, Glenn G, et al: Germline
mutations in the von Hippel-Lindau disease tumor suppressor gene:
Correlations with phenotype. Hum Mutat. 5:66–75. 1995. View Article : Google Scholar : PubMed/NCBI
|
4
|
Hoffman MA, Ohh M, Yang H, Klco JM, Ivan M
and Kaelin WG Jr: von Hippel-Lindau protein mutants linked to type
2C VHL disease preserve the ability to downregulate HIF. Hum Mol
Genet. 10:1019–1027. 2001. View Article : Google Scholar : PubMed/NCBI
|
5
|
Neumann HP and Wiestler OD: Clustering of
features of von Hippel-Lindau syndrome: Evidence for a complex
genetic locus. Lancet. 337:1052–1054. 1991. View Article : Google Scholar : PubMed/NCBI
|
6
|
Latif F, Tory K, Gnarra J, Yao M, Duh FM,
Orcutt ML, Stackhouse T, Kuzmin I, Modi W, Geil L, et al:
Identification of the von Hippel-Lindau disease tumor suppressor
gene. Science. 260:1317–1320. 1993. View Article : Google Scholar : PubMed/NCBI
|
7
|
Seizinger BR, Smith DI, Filling-Katz MR,
Neumann H, Green JS, Choyke PL, Anderson KM, Freiman RN, Klauck SM,
Whaley J, et al: Genetic flanking markers refine diagnostic
criteria and provide insights into the genetics of Von Hippel
Lindau disease. Proc Natl Acad Sci USA. 88:2864–2868. 1991.
View Article : Google Scholar : PubMed/NCBI
|
8
|
Maher ER, Yates JR, Harries R, Benjamin C,
Harris R, Moore AT and Ferguson-Smith MA: Clinical features and
natural history of von Hippel-Lindau disease. Q J Med.
77:1151–1163. 1990. View Article : Google Scholar : PubMed/NCBI
|
9
|
Iliopoulos O, Ohh M and Kaelin WG Jr:
pVHL19 is a biologically active product of the von Hippel-Lindau
gene arising from internal translation initiation. Proc Natl Acad
Sci USA. 95:11661–11666. 1998. View Article : Google Scholar : PubMed/NCBI
|
10
|
Min JH, Yang H, Ivan M, Gertler F, Kaelin
WG Jr and Pavletich NP: Structure of an HIF-1alpha-pVHL complex:
Hydroxyproline recognition in signaling. Science. 296:1886–1889.
2002. View Article : Google Scholar : PubMed/NCBI
|
11
|
Ivan M, Kondo K, Yang H, Kim W, Valiando
J, Ohh M, Salic A, Asara JM, Lane WS and Kaelin WG Jr: HIFalpha
targeted for VHL-mediated destruction by proline hydroxylation:
Implications for O2 sensing. Science. 292:464–468. 2001. View Article : Google Scholar : PubMed/NCBI
|
12
|
Jaakkola P, Mole DR, Tian YM, Wilson MI,
Gielbert J, Gaskell SJ, von Kriegsheim A, Hebestreit HF, Mukherji
M, Schofield CJ, et al: Targeting of HIF-alpha to the von
Hippel-Lindau ubiquitylation complex by O2-regulated prolyl
hydroxylation. Science. 292:468–472. 2001. View Article : Google Scholar : PubMed/NCBI
|
13
|
Yu F, White SB, Zhao Q and Lee FS:
HIF-1alpha binding to VHL is regulated by stimulus-sensitive
proline hydroxylation. Proc Natl Acad Sci USA. 98:9630–9635. 2001.
View Article : Google Scholar : PubMed/NCBI
|
14
|
Sun W, Kato H, Kitajima S, Lee KL, Gradin
K, Okamoto T and Poelllinger L: Interaction between von
Hippel-Lindau protein and fatty acid synthase modulates hypoxia
target gene expression. Sci Rep. 7:71902017. View Article : Google Scholar : PubMed/NCBI
|
15
|
Stephen H: Harrison's Neurology in
Clinical Medicine. 2nd editon. McGraw-Hill; London: 2010
|
16
|
Rosai J: Rosai and Ackerman's surgical
pathology-2 Volume Set. 10th Edition. Mosby: 2011, View Article : Google Scholar
|
17
|
Sambrook J and Russell D: Molecular
cloning: A laboratory manual (Third Edition). Cold Spring Harb Lab.
2016.
|
18
|
Enriquez ML, Lal P, Ziober A, Wang L,
Tomaszewski JE and Bing Z: The use of immunohistochemical
expression of SF-1 and EMA in distinguishing adrenocortical tumors
from renal neoplasms. Appl Immunohistochem Mol Morphol. 20:141–145.
2012. View Article : Google Scholar : PubMed/NCBI
|
19
|
Li LT, Jiang G, Chen Q and Zheng JN: Ki67
is a promising molecular target in the diagnosis of cancer
(review). Mol Med Rep. 11:1566–1572. 2015. View Article : Google Scholar : PubMed/NCBI
|
20
|
Barry RE and Krek W: The von Hippel-Lindau
tumour suppressor: A multi-faceted inhibitor of tumourigenesis.
Trends Mol Med. 10:466–472. 2004. View Article : Google Scholar : PubMed/NCBI
|
21
|
Kleymenova E, Everitt JI, Pluta L, Portis
M, Gnarra JR and Walker CL: Susceptibility to vascular neoplasms
but no increased susceptibility to renal carcinogenesis in Vhl
knockout mice. Carcinogenesis. 25:309–315. 2004. View Article : Google Scholar : PubMed/NCBI
|
22
|
Jia D, Tang B, Shi Y, Wang J, Sun Z, Chen
Z, Zhang L, Xia K and Jiang H: A deletion mutation of the VHL gene
associated with a patient with sporadic von Hippel-Lindau disease.
J Clin Neurosci. 20:842–847. 2013. View Article : Google Scholar : PubMed/NCBI
|
23
|
Yang Z, Yang Z, Xiong L, Huang S, Liu J,
Yang L and Miao X: Expression of VHL and HIF-1α and their
clinicopathologic significance in benign and malignant lesions of
the gallbladder. Appl Immunohistochem Mol Morphol. 19:534–539.
2011. View Article : Google Scholar : PubMed/NCBI
|
24
|
Kibel A, Iliopoulos O, DeCaprio JA and
Kaelin WG Jr: Binding of the von Hippel-Lindau tumor suppressor
protein to Elongin B and C. Science. 269:1444–1446. 1995.
View Article : Google Scholar : PubMed/NCBI
|
25
|
Li L, Zhang L, Zhang X, Yan Q, Minamishima
YA, Olumi AF, Mao M, Bartz S and Kaelin WG Jr: Hypoxia-inducible
factor linked to differential kidney cancer risk seen with type 2A
and type 2B VHL mutations. Mol Cell Biol. 27:5381–5392. 2007.
View Article : Google Scholar : PubMed/NCBI
|
26
|
Knudson AG Jr: Mutation and cancer:
Statistical study of retinoblastoma. Proc Natl Acad Sci USA.
68:820–823. 1971. View Article : Google Scholar : PubMed/NCBI
|
27
|
Gnarra JR, Ward JM, Porter FD, Wagner JR,
Devor DE, Grinberg A, Emmert-Buck MR, Westphal H, Klausner RD and
Linehan WM: Defective placental vasculogenesis causes embryonic
lethality in VHL-deficient mice. Proc Natl Acad Sci USA.
94:9102–9107. 1997. View Article : Google Scholar : PubMed/NCBI
|
28
|
Ma W, Tessarollo L, Hong SB, Baba M,
Southon E, Back TC, Spence S, Lobe CG, Sharma N, Maher GW, et al:
Hepatic vascular tumors, angiectasis in multiple organs, and
impaired spermatogenesis in mice with conditional inactivation of
the VHL gene. Cancer Res. 63:5320–5328. 2003.PubMed/NCBI
|
29
|
Corrò C, Hejhal T, Poyet C, Sulser T,
Hermanns T, Winder T, Prager G, Wild PJ, Frew I, Moch H and
Rechsteiner M: Detecting circulating tumor DNA in renal cancer: An
open challenge. Exp Mol Pathol. 102:255–261. 2017. View Article : Google Scholar : PubMed/NCBI
|