{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,19]],"date-time":"2026-05-19T23:33:30Z","timestamp":1779233610637,"version":"3.51.4"},"reference-count":30,"publisher":"Springer Science and Business Media LLC","issue":"4","license":[{"start":{"date-parts":[[2012,2,23]],"date-time":"2012-02-23T00:00:00Z","timestamp":1329955200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Hum Genet"],"published-print":{"date-parts":[[2012,4]]},"DOI":"10.1038\/jhg.2012.10","type":"journal-article","created":{"date-parts":[[2012,2,23]],"date-time":"2012-02-23T07:20:03Z","timestamp":1329981603000},"page":"238-243","source":"Crossref","is-referenced-by-count":47,"title":["Family history of von Hippel\u2013Lindau disease was uncommon in Chinese patients: suggesting the higher frequency of de novo mutations in VHL gene in these patients"],"prefix":"10.1038","volume":"57","author":[{"given":"Pengjie","family":"Wu","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ning","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xi","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xianghui","family":"Ning","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Teng","family":"Li","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dingfang","family":"Bu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kan","family":"Gong","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2012,2,23]]},"reference":[{"key":"BFjhg201210_CR1","doi-asserted-by":"publisher","first-page":"1052","DOI":"10.1016\/0140-6736(91)91705-Y","volume":"337","author":"HP Neumann","year":"1991","unstructured":"Neumann, H. P. & Wiestler, O. D. Clustering of features of von Hippel-Lindau syndrome: evidence for a complex genetic locus. Lancet 337, 1052\u20131054 (1991).","journal-title":"Lancet"},{"key":"BFjhg201210_CR2","doi-asserted-by":"publisher","first-page":"1151","DOI":"10.1093\/qjmed\/77.2.1151","volume":"77","author":"ER Maher","year":"1990","unstructured":"Maher, E. R., Yates, J. R., Harries, R., Benjamin, C., Harris, R., Moore, A. T. et al. Clinical features and natural history of von Hippel-Lindau disease. Q. J. Med. 77, 1151\u20131163 (1990).","journal-title":"Q. J. Med."},{"key":"BFjhg201210_CR3","doi-asserted-by":"publisher","first-page":"117","DOI":"10.1016\/S0039-6257(01)00245-4","volume":"46","author":"AD Singh","year":"2001","unstructured":"Singh, A. D., Shields, C. L. & Shields, J. A. von Hippel\u2013Lindau Disease. Surv. Ophthalmol. 46, 117\u2013142 (2001).","journal-title":"Surv. Ophthalmol."},{"key":"BFjhg201210_CR4","doi-asserted-by":"publisher","first-page":"2059","DOI":"10.1016\/S0140-6736(03)13643-4","volume":"361","author":"RR Lonser","year":"2003","unstructured":"Lonser, R. R., Glenn, G. M., Walther, M., Chew, E. Y., Libutti, S. K., Linehan, W. M. et al. von Hippel-Lindau disease. Lancet 361, 2059\u20132067 (2003).","journal-title":"Lancet"},{"key":"BFjhg201210_CR5","doi-asserted-by":"publisher","first-page":"617","DOI":"10.1038\/ejhg.2010.175","volume":"19","author":"ER Maher","year":"2011","unstructured":"Maher, E. R., Neumann, H. P. & Richard, S. von Hippel-Lindau disease: a clinical and scientific review. Eur. J. Hum. Genet. 19, 617\u2013623 (2011).","journal-title":"Eur. J. Hum. Genet."},{"key":"BFjhg201210_CR6","doi-asserted-by":"publisher","first-page":"1317","DOI":"10.1126\/science.8493574","volume":"260","author":"F Latif","year":"1993","unstructured":"Latif, F., Tory, K., Gnarra, J., Yao, M., Duh, F. M., Orcutt, M. L. et al. Identification of the von Hippel-Lindau disease tumor suppressor gene. Science 260, 1317\u20131320 (1993).","journal-title":"Science"},{"key":"BFjhg201210_CR7","doi-asserted-by":"publisher","first-page":"575","DOI":"10.1038\/ki.1997.82","volume":"51","author":"AP Levy","year":"1997","unstructured":"Levy, A. P., Levy, N. S., Iliopoulos, O., Jiang, C., Kaplin, W. G. Jr. & Goldberg, M. A. Regulation of vascular endothelial growth factor by hypoxia and its modulation by the von Hippel-Lindau tumor suppressor gene. Kidney Int. 51, 575\u2013578 (1997).","journal-title":"Kidney Int."},{"key":"BFjhg201210_CR8","doi-asserted-by":"publisher","first-page":"670","DOI":"10.1172\/JCI114759","volume":"86","author":"S Kourembanas","year":"1990","unstructured":"Kourembanas, S., Hannan, R. L. & Faller, D. V. Oxygen tension regulates the expression of the platelet-derived growth factor-B chain gene in human endothelial cells. J. Clin. Invest. 86, 670\u2013674 (1990).","journal-title":"J. Clin. Invest."},{"key":"BFjhg201210_CR9","doi-asserted-by":"publisher","first-page":"5435","DOI":"10.1038\/sj.onc.1203938","volume":"19","author":"M Krieg","year":"2000","unstructured":"Krieg, M., Haas, R., Brauch, H., Acker, T., Flamme, I. & Plate, K H Up-regulation of hypoxia-inducible factors HIF-1alpha and HIF-2alpha under normoxic conditions in renal carcinoma cells by von Hippel-Lindau tumor suppressor gene loss of function. Oncogene 19, 5435\u20135443 (2000).","journal-title":"Oncogene"},{"key":"BFjhg201210_CR10","doi-asserted-by":"publisher","first-page":"2703","DOI":"10.1097\/01.ASN.0000092803.69761.41","volume":"14","author":"WG Kaelin","year":"2003","unstructured":"Kaelin, W. G. The von Hippel-Lindau Gene, Kidney Cancer, and Oxygen Sensing. J. Am. Soc. Nephrol. 14, 2703\u20132711 (2003).","journal-title":"J. Am. Soc. Nephrol."},{"key":"BFjhg201210_CR11","first-page":"521","volume":"31","author":"M Nordstrom-O\u2019Brien","year":"2010","unstructured":"Nordstrom-O\u2019Brien, M., van der Luijt, R. B., van Rooijen, E., van den Ouweland, A. M., Majoor-Krakauer, D. F., Lolkema, M. P. et al. Genetic analysis of von Hippel-Lindau disease. Hum. Mutat. 31, 521\u2013537 (2010).","journal-title":"Hum. Mutat."},{"key":"BFjhg201210_CR12","doi-asserted-by":"publisher","first-page":"376","DOI":"10.1007\/s004390100500","volume":"108","author":"B Klein","year":"2001","unstructured":"Klein, B., Weirich, G. & Brauch, H. DHPLC-based germline mutation screening in the analysis of the VHL tumor suppressor gene: usefulness and limitations. Hum. Genet. 108, 376\u2013384 (2001).","journal-title":"Hum. Genet."},{"key":"BFjhg201210_CR13","doi-asserted-by":"publisher","first-page":"417","DOI":"10.1002\/(SICI)1098-1004(1998)12:6<417::AID-HUMU8>3.0.CO;2-K","volume":"12","author":"C Stolle","year":"1998","unstructured":"Stolle, C., Glenn, G., Zbar, B., Humphrey, J. S., Choyke, P., Walther, M. et al. Improved detection of germline mutations in the von Hippel-Lindau disease tumor suppressor gene. Hum. Mutat. 12, 417\u2013423 (1998).","journal-title":"Hum. Mutat."},{"key":"BFjhg201210_CR14","doi-asserted-by":"publisher","first-page":"77","DOI":"10.3346\/jkms.2009.24.1.77","volume":"24","author":"HJ Cho","year":"2009","unstructured":"Cho, H. J., Ki, C. S. & Kim, J. W. Improved detection of germline mutations in Korean VHL patients by multiple ligation-dependent probe amplification analysis. J. Korean. Med. Sci. 24, 77\u201383 (2009).","journal-title":"J. Korean. Med. Sci."},{"key":"BFjhg201210_CR15","doi-asserted-by":"publisher","first-page":"e31","DOI":"10.1136\/jmg.40.3.e31","volume":"40","author":"JC Rocha","year":"2003","unstructured":"Rocha, J. C., Silva, R. L., Mendonca, B. B., Marui, S., Simpson, A. J. & Camargo, A. A. High frequency of novel germline mutations in the VHL gene in the heterogeneous population of Brazil. J. Med. Genet. 40, e31 (2003).","journal-title":"J. Med. Genet."},{"key":"BFjhg201210_CR16","doi-asserted-by":"publisher","first-page":"E38","DOI":"10.1136\/jmg.39.7.e38","volume":"39","author":"C Cybulski","year":"2002","unstructured":"Cybulski, C., Krzystolik, K., Murgia, A., Gorski, B., Debniak, T., Jakubowska, A. et al. Germline mutations in the von Hippel-Lindau (VHL) gene in patients from Poland: disease presentation in patients with deletions of the entire VHL gene. J. Med. Genet. 39, E38 (2002).","journal-title":"J. Med. Genet."},{"key":"BFjhg201210_CR17","doi-asserted-by":"publisher","first-page":"1211","DOI":"10.1007\/s00432-008-0399-x","volume":"134","author":"J Zhang","year":"2008","unstructured":"Zhang, J., Huang, Y., Pan, J., Liu, D., Zhou, L., Xue, W. et al. Germline mutations in the von Hippel-Lindau disease (VHL) gene in mainland Chinese families. J. Cancer. Res. Clin. Oncol. 134, 1211\u20131218 (2008).","journal-title":"J. Cancer. Res. Clin. Oncol."},{"key":"BFjhg201210_CR18","doi-asserted-by":"publisher","first-page":"2139","DOI":"10.1093\/hmg\/4.11.2139","volume":"4","author":"FM Richards","year":"1995","unstructured":"Richards, F. M., Payne, S. J., Zbar, B., Affara, N. A., Ferguson-Smith, M. A. & Maher, E. R. Molecular analysis of de novo germline mutations in the von Hippel-Lindau disease gene. Hum. Mol. Genet. 4, 2139\u20132143 (1995).","journal-title":"Hum. Mol. Genet."},{"key":"BFjhg201210_CR19","doi-asserted-by":"publisher","first-page":"84","DOI":"10.1086\/302726","volume":"66","author":"MT Sgambati","year":"2000","unstructured":"Sgambati, M. T., Stolle, C., Choyke, P. L., Walther, M. M., Zbar, B., Linehan, W. M. et al. Mosaicism in von Hippel-Lindau disease: lessons from kindreds with germline mutations identified in offspring with mosaic parents. Am. J. Hum. Genet. 66, 84\u201391 (2000).","journal-title":"Am. J. Hum. Genet."},{"key":"BFjhg201210_CR20","first-page":"237","volume":"124","author":"WK Siu","year":"2011","unstructured":"Siu, W. K., Ma, R. C., Lam, C. W., Mak, C. M., Yuen, Y. P., Lo, F. M. et al. Molecular basis of von Hippel-Lindau syndrome in Chinese patients. Chin. Med. J. (Engl). 124, 237\u2013241 (2011).","journal-title":"Chin. Med. J. (Engl)."},{"key":"BFjhg201210_CR21","doi-asserted-by":"publisher","first-page":"348","DOI":"10.1002\/(SICI)1098-1004(1996)8:4<348::AID-HUMU8>3.0.CO;2-3","volume":"8","author":"B Zbar","year":"1996","unstructured":"Zbar, B., Kishida, T., Chen, F., Schmidt, L., Maher, E. R., Richards, F. M. et al. Germline mutations in the Von Hippel-Lindau disease (VHL) gene in families from North America, Europe, and Japan. Hum. Mutat. 8, 348\u2013357 (1996).","journal-title":"Hum. Mutat."},{"key":"BFjhg201210_CR22","doi-asserted-by":"publisher","first-page":"203","DOI":"10.1196\/annals.1353.022","volume":"1073","author":"AL Tong","year":"2006","unstructured":"Tong, A. L., Zeng, Z. P., Li, H. Z., Yang, D., Lu, L., Li, M. et al. von Hippel-Lindau gene mutation in non-syndromic familial pheochromocytomas. Ann. N. Y. Acad. Sci. 1073, 203\u2013207 (2006).","journal-title":"Ann. N. Y. Acad. Sci."},{"key":"BFjhg201210_CR23","doi-asserted-by":"publisher","first-page":"743","DOI":"10.1179\/174313209X382421","volume":"31","author":"XC Mao","year":"2009","unstructured":"Mao, X. C., Su, Z. P., Yu, W. Q., Zheng, W. M. & Zeng, Y. J. Familial and genetic researches on three Chinese families with von Hippel-Lindau disease. Neurol. Res. 31, 743\u2013747 (2009).","journal-title":"Neurol. Res."},{"key":"BFjhg201210_CR24","first-page":"365","volume":"24","author":"DH Zhou","year":"2007","unstructured":"Zhou, D. H., Wang, Y. M., Lan, T., Dong, Y. C., Zhang, B., Li, W. P. et al. [Mutation screening of VHL gene in a Chinese family with nonsyndromic pheochromocytoma]. Zhonghua. Yi. Xue. Yi. Chuan. Xue. Za. Zhi. 24, 365\u2013368 (2007).","journal-title":"Zhonghua. Yi. Xue. Yi. Chuan. Xue. Za. Zhi."},{"key":"BFjhg201210_CR25","doi-asserted-by":"publisher","first-page":"452","DOI":"10.1111\/j.1440-1827.2010.02540.x","volume":"60","author":"J Zhou","year":"2010","unstructured":"Zhou, J., Wang, J., Li, N., Zhang, X., Zhou, H., Zhang, R. et al. Molecularly genetic analysis of von Hippel-Lindau associated central nervous system hemangioblastoma. Pathol. Int. 60, 452\u2013458 (2010).","journal-title":"Pathol. Int."},{"key":"BFjhg201210_CR26","doi-asserted-by":"publisher","first-page":"1303","DOI":"10.1093\/hmg\/3.8.1303","volume":"3","author":"PA Crossey","year":"1994","unstructured":"Crossey, P. A., Richards, F. M., Foster, K., Green, J. S., Prowse, A., Latif, F. 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\u20131308 (1994).","journal-title":"Hum. Mol. Genet."},{"key":"BFjhg201210_CR27","doi-asserted-by":"publisher","first-page":"143","DOI":"10.1002\/humu.20385","volume":"28","author":"KR Ong","year":"2007","unstructured":"Ong, K. R., Woodward, E. R., Killick, P., Lim, C., Macdonald, F. & Maher, E. R. Genotype-phenotype correlations in von Hippel-Lindau disease. Hum. Mutat. 28, 143\u2013149 (2007).","journal-title":"Hum. Mutat."},{"key":"BFjhg201210_CR28","doi-asserted-by":"publisher","first-page":"84","DOI":"10.1002\/prot.22419","volume":"77","author":"JR Forman","year":"2009","unstructured":"Forman, J. R., Worth, C. L., Bickerton, G. R., Eisen, T. G. & Blundell, T. L. Structural bioinformatics mutation analysis reveals genotype-phenotype correlations in von Hippel-Lindau disease and suggests molecular mechanisms of tumorigenesis. Proteins 77, 84\u201396 (2009).","journal-title":"Proteins"},{"key":"BFjhg201210_CR29","doi-asserted-by":"publisher","first-page":"155","DOI":"10.1016\/j.ccr.2005.06.015","volume":"8","author":"S Lee","year":"2005","unstructured":"Lee, S., Nakamura, E., Yang, H., Wei, W., Linggi, M. S., Sajan, M. P. et al. Neuronal apoptosis linked to EglN3 prolyl hydroxylase and familial pheochromocytoma genes: developmental culling and cancer. Cancer Cell 8, 155\u2013167 (2005).","journal-title":"Cancer Cell"},{"key":"BFjhg201210_CR30","doi-asserted-by":"publisher","first-page":"395","DOI":"10.1016\/j.molcel.2006.04.006","volume":"22","author":"JS Roe","year":"2006","unstructured":"Roe, J. S., Kim, H., Lee, S. M., Kim, S. T., Cho, E. J. & Youn, H. D. p53 stabilization and transactivation by a von Hippel-Lindau protein. Mol. Cell 22, 395\u2013405 (2006).","journal-title":"Mol. Cell"}],"container-title":["Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/jhg201210.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/jhg201210","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/jhg201210.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,18]],"date-time":"2023-05-18T17:29:30Z","timestamp":1684430970000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/jhg201210"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,2,23]]},"references-count":30,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2012,4]]}},"alternative-id":["BFjhg201210"],"URL":"https:\/\/doi.org\/10.1038\/jhg.2012.10","relation":{},"ISSN":["1434-5161","1435-232X"],"issn-type":[{"value":"1434-5161","type":"print"},{"value":"1435-232X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,2,23]]}}}