|
1
|
Huang Y, Zhou D, Liu J, Zhou P, Li X and
Wang Z: Germline mutations of the VHL gene in seven Chinese
families with von Hippel-Lindau disease. Int J Mol Med. 29:47–52.
2012.PubMed/NCBI
|
|
2
|
Qi XP, Ma JM, Du ZF, et al: RET germline
mutations identified by exome sequencing in a Chinese multiple
endocrine neoplasia type 2A/familial medullary thyroid carcinoma
family. PLoS One. 6:e203532011. View Article : Google Scholar
|
|
3
|
Qi XP, Chen XL, Ma JM, et al: RET
proto-oncogene genetic screening of families with multiple
endocrine neoplasia type 2 optimizes diagnostic and clinical
management in China. Thyroid. 22:1257–1265. 2012. View Article : Google Scholar
|
|
4
|
Gimenez-Roqueplo AP, Dahia PL and Robledo
M: An update on the genetics of paraganglioma, pheochromocytoma,
and associated hereditary syndromes. Horm Metab Res. 44:328–333.
2012. View Article : Google Scholar : PubMed/NCBI
|
|
5
|
Vicha A, Holzerova M, Krepelova A, et al:
Molecular cytogenetic characterization in four pediatric
pheochromocytomas and paragangliomas. Pathol Oncol Res. 17:801–808.
2011. View Article : Google Scholar : PubMed/NCBI
|
|
6
|
Santarpia L, Lapa D and Benvenga S:
Germline mutation of von Hippel-Lindau (VHL) gene 695 G>A
(R161Q) in a patient with a peculiar phenotype with type 2C VHL
syndrome. Ann N Y Acad Sci. 1073:198–202. 2006. View Article : Google Scholar : PubMed/NCBI
|
|
7
|
Richards FM, Payne SJ, Zbar B, Affara NA,
Ferguson-Smith MA and Maher ER: Molecular analysis of de novo
germline mutations in the von Hippel-Lindau disease gene. Hum Mol
Genet. 4:2139–2143. 1995. View Article : Google Scholar : PubMed/NCBI
|
|
8
|
Neumann HP, Bausch B, McWhinney SR, et al:
Germline mutations in nonsyndromic phaeochromocytoma. N Engl J Med.
346:1459–1466. 2002. View Article : Google Scholar : PubMed/NCBI
|
|
9
|
Neumann HP, Bender BU, Berger DP, et al:
Prevalence, morphology and biology of renal cell carcinoma in von
Hippel-Lindau disease compared to sporadic renal cell carcinoma. J
Urol. 160:1248–1254. 1998. View Article : Google Scholar : PubMed/NCBI
|
|
10
|
Gong K, Zhang N, Zhang K and Na Y: The
relationship of erythropoietin overexpression with von
Hippel-Lindau tumour suppressor gene mutations between
hypoxia-inducible factor-1α and -2α in sporadic clear cell renal
carcinoma. Int J Mol Med. 26:907–912. 2010.PubMed/NCBI
|
|
11
|
Latif F, Tory K, Gnarra J, et al:
Identification of the von Hippel-Lindau disease tumor suppressor
gene. Science. 260:1317–1320. 1993. View Article : Google Scholar : PubMed/NCBI
|
|
12
|
Cantley J, Selman C, Shukla D, et al:
Deletion of the von Hippel-Lindau gene in pancreatic beta cells
impairs glucose homeostasis in mice. J Clin Invest. 119:125–135.
2009.PubMed/NCBI
|
|
13
|
Crossey PA, Richards FM, Foster K, et al:
Identification of intragenic mutations in the von Hippel-Lindau
disease tumour suppressor gene and correlation with disease
phenotype. Hum Mol Genet. 3:1303–1308. 1994. View Article : Google Scholar : PubMed/NCBI
|
|
14
|
Glavac D, Neumann HP, Wittke C, et al:
Mutations in the VHL tumor suppressor gene and associated lesions
in families with von Hippel-Lindau disease from central Europe. Hum
Genet. 99:271–280. 1996.PubMed/NCBI
|
|
15
|
Eng C, Crossey PA, Mulligan LM, et al:
Mutations in the RET protooncogene and the von Hippel-Lindau
disease tumour suppressor gene in sporadic and syndromic
phaeochromocytomas. J Med Genet. 32:934–937. 1995. View Article : Google Scholar : PubMed/NCBI
|
|
16
|
Kondo K, Yao M, Yoshida M, et al:
Comprehensive mutational analysis of the VHL gene in sporadic renal
cell carcinoma: relationship to clinicopathological parameters.
Genes Chromosomes Cancer. 34:58–68. 2002. View Article : Google Scholar : PubMed/NCBI
|
|
17
|
Huang YR, Zhang J, Wang JD and Fan XD:
Genetic study of a large Chinese kindred with von Hippel-Lindau
disease. Chin Med J (Engl). 117:552–557. 2004.PubMed/NCBI
|
|
18
|
Opocher G and Schiavi F: Genetics of
pheochromocytoma and paragangliomas. Best Pract Res Clin Endocrinol
Metab. 24:943–956. 2010. View Article : Google Scholar : PubMed/NCBI
|
|
19
|
Peczkowska M, Cascon A, Prejbisz A, et al:
Extra-adrenal and adrenal phaeochromocytomas associated with a
germline SDHC mutation. Nat Clin Pract Endocrinol Metab. 4:111–115.
2008. View Article : Google Scholar : PubMed/NCBI
|
|
20
|
Astuti D, Douglas F, Lennard TW, et al:
Germline SDHD mutation in familial phaeochromocytoma. Lancet.
357:1181–1182. 2001. View Article : Google Scholar : PubMed/NCBI
|
|
21
|
Comino-Mendez I, Gracia-Aznarez FJ,
Schiavi F, et al: Exome sequencing identifies MAX mutations as a
cause of hereditary pheochromocytoma. Nat Genet. 43:663–667. 2011.
View Article : Google Scholar : PubMed/NCBI
|
|
22
|
Eng C, Clayton D, Schuffeneckeret I, et
al: The relationship between specific RET proto-oncogene mutations
and disease phenotype in multiple endocrine neoplasia type 2.
International RET mutation consortium analysis. JAMA.
276:1575–1579. 1996. View Article : Google Scholar
|
|
23
|
Korpershoek E, Favier J, Gaal J, et al:
SDHA immunohistochemistry detects germline SDHA gene mutations in
apparently sporadic paragangliomas and pheochromocytoma. J Clin
Endocrinol Metab. 96:E1472–E1476. 2011. View Article : Google Scholar : PubMed/NCBI
|
|
24
|
Astuti D, Latif F, Dallol A, et al: Gene
mutations in the succinate dehydrogenase subunit SDHB cause
susceptibility to familial pheochromocytoma and to familial
paraganglioma. Am J Hum Genet. 69:49–54. 2001. View Article : Google Scholar
|
|
25
|
Bayley JP, Kunst HP, Cascon A, et al:
SDHAF2 mutations in familial and sporadic paraganglioma and
phaeochromocytoma. Lancet Oncol. 11:366–372. 2010. View Article : Google Scholar : PubMed/NCBI
|
|
26
|
Bausch B, Koschker AC, Fassnacht M, et al:
Comprehensive mutation scanning of NF1 in apparently sporadic cases
of pheochromocytoma. J Clin Endocrinol Metab. 91:3478–3481. 2006.
View Article : Google Scholar : PubMed/NCBI
|
|
27
|
Neumann HP, Sullivan M, Winter A, et al:
Germline mutations of the TMEM127 gene in patients with
paraganglioma of head and neck and extraadrenal abdominal sites. J
Clin Endocrinol Metab. 96:E1279–E1282. 2011. View Article : Google Scholar : PubMed/NCBI
|
|
28
|
Shuch B, Ricketts CJ, Vocke CD, et al:
Adrenal nodular hyperplasia in hereiditary leiomyomatosis and renal
cell cancer. J Urol. 189:430–435. 2013. View Article : Google Scholar : PubMed/NCBI
|
|
29
|
Dabora SL, Jozwiak S, Franz DN, et al:
Mutational analysis in a cohort of 224 tuberous sclerosis patients
indicates increased severity of TSC2, compared with TSC1, disease
in multiple organs. Am J Hum Genet. 68:64–80. 2001. View Article : Google Scholar : PubMed/NCBI
|
|
30
|
Schmidt L, Junker K, Weirich G, et al: Two
North American families with hereditary papillary renal carcinoma
and identical novel mutations in the MET proto-oncogene. Cancer
Res. 58:1719–1722. 1998.PubMed/NCBI
|
|
31
|
Toro JR, Wei MH, Glenn GM, et al: BHD
mutations, clinical and molecular genetic investigations of
Birt-Hogg-Dubé syndrome: a new series of 50 families and a review
of published reports. J Med Genet. 45:321–331. 2008.PubMed/NCBI
|
|
32
|
Qi XP, Du ZF, Ma JM, et al: Genetic
diagnosis of autosomal dominant polycystic kidney disease by
targeted capture and next-generation sequencing: utility and
limitations. Gene. 516:93–100. 2013. View Article : Google Scholar : PubMed/NCBI
|
|
33
|
Iliopouluos O, Levy AP, Jiang C, Kaelin WG
Jr and Goldberg MA: Negative regulation of hypoxia-inducible genes
by the von Hippel-Lindau protein. Proc Natl Acad Sci USA.
93:10595–10599. 1996. View Article : Google Scholar : PubMed/NCBI
|
|
34
|
Stebbins CE, Kaelin WG Jr and Pavletich
NP: Structure of the VHL-ElonginC-ElonginB complex: implications
for VHL tumor-suppressor function. Science. 284:455–461. 1999.
View Article : Google Scholar : PubMed/NCBI
|
|
35
|
Okuda H, Hirai S, Takaki Y, et al: Direct
interaction of the beta-domain of VHL tumor suppressor protein with
the regulatory domain of atypical PKC isotypes. Biochem Biophys Res
Commun. 263:491–497. 1999. View Article : Google Scholar : PubMed/NCBI
|
|
36
|
Domene C and Illingworth CJ: Effects of
point mutations in pVHL on the binding of HIF-1α. Proteins.
80:733–746. 2012.
|
|
37
|
Arjumand W and Sultana S: Role of VHL gene
mutation in human renal cell carcinoma. Tumour Biol. 33:9–16. 2012.
View Article : Google Scholar : PubMed/NCBI
|
|
38
|
Tong AL, Zeng ZP, Li HZ, et al: von
Hippel-Lindau gene mutation in non-syndromic familial
pheochromocytomas. Ann N Y Acad Sci. 1073:203–207. 2006. View Article : Google Scholar : PubMed/NCBI
|
|
39
|
Akcaglar S, Yavascaoglu I, Vuruskan H and
Oktay B: Genetic evaluation of von Hippel-Lindau disease for early
diagnosis and improved prognosis. Int Urol Nephrol. 40:615–620.
2008. View Article : Google Scholar : PubMed/NCBI
|
|
40
|
Sovinz P, Urban C, Uhrig S, et al:
Pheochromocytoma in a 2.75-year-old-girl with a germline von
Hippel-Lindau mutation Q164R. Am J Med Genet A. 152A:1752–1755.
2010.PubMed/NCBI
|
|
41
|
Walther MM, Choyke PL, Glenn G, Lyne JC,
Rayford W, Venzon D and Linehan WM: Renal cancer in families with
hereditary renal cancer: Prospective analysis of a tumor size
threshold for renal parenchymal sparing surgery. J Urol.
161:1475–1479. 1999. View Article : Google Scholar : PubMed/NCBI
|
|
42
|
Steinbach F, Novick AC, Zincke H, et al:
Treatment of renal-cell carcinoma in von Hippel-Lindau disease: a
multicenter study. J Urol. 153:1812–1816. 1995. View Article : Google Scholar : PubMed/NCBI
|
