The DOI matches its Crossref record; 29 of the 29 references it cites were found in a registry or an index.
Mutations of the VHL tumour suppressor gene in renal carcinoma
Abstract
Multiple, bilateral renal carcinomas are a frequent occurrence in von Hippel-Lindau (VHL) disease. To elucidate the aetiological role of the VHL gene in human kidney tumorigenesis, localized and advanced tumours from 110 patients with sporadic renal carcinoma were analysed for VHL mutations and loss of heterozygosity (LOH). VHL mutations were identified in 57% of clear cell renal carcinomas analysed and LOH was observed in 98% of those samples. Moreover, VHL was mutated and lost in a renal tumour from a patient with familial renal carcinoma carrying the constitutional translocation, t(3;8)(p14;q24). The identification of VHL mutations in a majority of localized and advanced sporadic renal carcinomas and in a second form of hereditary renal carcinoma indicates that the VHL gene plays a critical part in the origin of this malignancy.
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In the citing paper
“In ccRCC, VHL loss impairs degradation of HIF-α proteins, leading to HIF accumulation irrespective of oxygen levels (Gnarra et al., 1994;Krieg et al., 2000).”
From Therapeutic targeting of hypoxia and hypoxia-inducible factors in cancer (2016) · cites this paper as Gnarra et al., 1994
In the citing paper
“In addition, most sporadic ccRCCs lose VHL function through genomic alterations”
From Hypoxic control of metastasis (2016) · cites this paper as [25]
Citations
Cites
Identification of the von Hippel-Lindau Disease Tumor Suppressor Gene
Latif, F., Tory, K., Gnarra, J. R., Yao, M., Duh, F.-M. C., Orcutt, M. L., Stackhouse, T. M., Kuzmin, I., Modi, W. S., Geil, L., et al. (1993) · Science · doi:10.1126/science.8493574 · Cited by 2,971
Self-citationThe Results of Radical Nephrectomy for Renal Cell Carcinoma
Robson, C. J., Churchill, B. M., & Anderson, W. D. (1969) · The Journal of Urology · doi:10.1016/s0022-5347(17)62331-0 · Cited by 1,303
Mutations in the RET proto-oncogene are associated with MEN 2A and FMTC
Donis-Keller, H., Dou, S., Chi, D., Carlson, K. M., Toshima, K., Lairmore, T. C., Howe, J. R., Moley, J. F., Goodfellow, P. J., & Wells, S. A. (1993) · Human Molecular Genetics · doi:10.1093/hmg/2.7.851 · Cited by 1,298
Hereditary cancer, oncogenes, and antioncogenes.
Knudson, A. G. (1985) · PubMed · Cited by 1,218
The Results of Radical Nephrectomy for Renal Cell Carcinoma
Robson, C. J., Churchill, B. M., & Anderson, W. D. (2016) · The Journal of Urology · doi:10.1016/j.juro.2016.10.095 · Cited by 1,160
Hofstra, R. M. W., Landsvater, R. M., Ceccherini, I., Stulp, R. P., Stelwagen, T., Luo, Y., Pasini, B., Höppener, J. W. M., van Amstel, H. K. P., Romeo, G., et al. (1994) · Nature · doi:10.1038/367375a0 · Cited by 1,143
Strauss, M. B., & Welt, L. G. (1963) · Little, Brown eBooks · Cited by 823
Mutations of the RET proto-oncogene in Hirschsprung's disease
Edery, P., Lyonnet, S., Mulligan, L. M., Pelet, A., Dow, E., Abel, L., Holder, S., Nihoul‐Feketé, C., Ponder, B. A. J., & Münnich, A. (1994) · Nature · doi:10.1038/367378a0 · Cited by 746
Romeo, G., Ronchetto, P., Luo, Y., Barone, V., Seri, M., Ceccherini, I., Pasini, B., Bocciardi, R., Lerone, M., Kääriäinen, H., et al. (1994) · Nature · doi:10.1038/367377a0 · Cited by 698
Specific mutations of the RET proto-oncogene are related to disease phenotype in MEN 2A and FMTC
Mulligan, L. M., Eng, C., Healey, C. S., Clayton, D. G., Kwok, J. B., Gardner, E., Ponder, M. A., Frilling, A., Jackson, C. E., Lehnert, H., et al. (1994) · Nature Genetics · doi:10.1038/ng0194-70 · Cited by 643
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Research works printed but not linked: 1
- Glenn, G.M., Choyke, P.L., Zbar, B. & Linehan, W.M. von Hippel-Lindau disease: clinical review and molecular genetics. Problems Urol. 4, 312–330 (1990).
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Items 1,001–1,002 of 1,002
Li, C., Qin, C., Li, X., Wang, J., Li, Y., & Sun, Q. (2026) · International Journal of Oncology · doi:10.3892/ijo.2026.5845 · Cited by 3
Berner (1996) · doi:10.1002/(sici)1098-2264(199612)17:4
Metadata
- Authors
- Gnarra, J. R., Tory, K., Weng, Y., Schmidt, L., Wei, M. H., Li, H., Latif, F., Liu, S., Chen, F., Duh, F.-M., Lubensky, I., Duan, D. R., Florence, C., Pozzatti, R., Walther, M. M., Bander, N. H., Grossman, H. B., Brauch, H., Pomer, S., Brooks, J. D., Isaacs, W. B., Lerman, M. I., Zbar, B., & Linehan, W. M.
- Affiliations
- National Cancer Institute (US)
- Frederick National Laboratory for Cancer Research (US)
- National Institutes of Health (US)
- Cornell University (US)
- University of Michigan (US)
- Technical University of Munich (DE)
- Heidelberg University (DE)
- Johns Hopkins University (US)
- ORCID
- Venue
- Nature Genetics
- Published
- 1994-05
- Volume
- 7
- Issue
- 1
- Pages
- 85-90
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- OpenAlex
- W2010160635
- Cited by
- 1,730
- References
- 29
- Citations by year
- 2026: 17 · 2025: 25 · 2024: 30 · 2023: 38 · 2022: 38 · 2021: 45 · 2020: 56 · 2019: 47 · 2018: 45 · 2017: 42 · 2016: 57 · 2015: 35 · 2014: 70 · 2013: 66 · 2012: 62
- FWCI
- 61.77
- Type
- journal article
- Language
- en
- Open access
- closed
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature Genetics (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Health Sciences › Medicine › Oncology › Renal cell carcinoma treatment
- Health Sciences › Medicine › Oncology › Ear and Head Tumors
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Cancer Research › Cancer, Hypoxia, and Metabolism
- Keywords
- VHL gene, von Hippel-Lindau disease, renal carcinoma, clear cell renal cell carcinoma, loss of heterozygosity
- MeSH terms
- Base Sequence, Carcinoma, DNA Mutational Analysis, DNA, Neoplasm, von Hippel-Lindau Disease, Humans, Kidney Neoplasms, Molecular Sequence Data, Mutation, Organ Specificity, Polymorphism, Restriction Fragment Length, Genes, Tumor Suppressor, Neoplasms, Second Primary, Sequence Deletion, Adenocarcinoma, Clear Cell
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