Cited by 1,730Renal cell carcinoma treatmentEar and Head TumorsCancer, Hypoxia, and Metabolism

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

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.·1994·Nature Genetics

DOI 10.1038/ng0594-85

Open this paper in CoChat — free account

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.

Integrity signals

Registry

Crossref · 10.1038/ng0594-85

Cites

29 of 29 references verified0 citation errors · 0 not checkable

Statistics

Recomputing p-values needs the paper’s full text.

Claims the paper makes

This paper’s full text isn’t openly available, so its claims and self-check weren’t run. The registry and citation checks still apply.

Claims other papers make about this one

Each is checked against this paper’s own text: does it say what the citing paper says it does?

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-citation
The 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
A mutation in the RET proto-oncogene associated with multiple endocrine neoplasia type 2B and sporadic medullary thyroid carcinoma
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
Diseases of the kidney
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
Point mutations affecting the tyrosine kinase domain of the RET proto-oncogene in Hirschsprung's disease
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

Flagged first, then by citations

Show all 29 references

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).

Sorted by citations

Sunitinib versus Interferon Alfa in Metastatic Renal-Cell Carcinoma
Motzer, R. J., Hutson, T. E., Tomczak, P., Michaelson, M. D., Bukowski, R. M., Rixe, O., Oudard, S. M., Négrier, S., Szczylik, C. A., Kim, S. T., et al. (2007) · New England Journal of Medicine · doi:10.1056/nejmoa065044 · Cited by 5,752
Methylation-specific PCR: a novel PCR assay for methylation status of CpG islands.
Herman, J. G., Graff, J. R., Myöhänen, S., Nelkin, B. D., & Baylin, S. B. (1996) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.93.18.9821 · Cited by 5,634
The tumour suppressor protein VHL targets hypoxia-inducible factors for oxygen-dependent proteolysis
Maxwell, P. H., Wiesener, M. S., Chang, G.-W., Clifford, S. C., Vaux, E. C., Cockman, M. E., Wykoff, C. C., Pugh, C. W., Maher, E. R., & Ratcliffe, P. J. (1999) · Nature · doi:10.1038/20459 · Cited by 5,180
Renal cell carcinoma
Hsieh, J. J., Purdue, M. P., Signoretti, S., Swanton, C., Albiges, L., Schmidinger, M., Heng, D. Y., Larkin, J., & Ficarra, V. (2017) · Nature Reviews Disease Primers · doi:10.1038/nrdp.2017.9 · Cited by 2,426
A Randomized Trial of Bevacizumab, an Anti–Vascular Endothelial Growth Factor Antibody, for Metastatic Renal Cancer
Yang, J. C., Haworth, L. R., Sherry, R. M., Hwu, P., Schwartzentruber, D. J., Topalian, S. L., Steinberg, S. M., Chen, H. X., & Rosenberg, S. A. (2003) · New England Journal of Medicine · doi:10.1056/nejmoa021491 · Cited by 2,704
Renal-Cell Carcinoma
Motzer, R. J., Bander, N. H., & Nanus, D. M. (1996) · New England Journal of Medicine · doi:10.1056/nejm199609193351207 · Cited by 2,239
Self-citation
Chemotherapy and the war on cancer
Chabner, B. A., & Roberts, T. G. (2005) · Nature reviews. Cancer · doi:10.1038/nrc1529 · Cited by 2,231
Alterations in DNA Methylation: A Fundamental Aspect of Neoplasia
Baylln, S. B., Herman, J. G., Graff, J. R., Vertino, P. M., & Issa, J. J. (1997) · Advances in cancer research · doi:10.1016/s0065-230x(08)60702-2 · Cited by 1,919
Renal cell carcinoma
Rini, B. I., Campbell, S. C., & Escudier, B. J. (2009) · The Lancet · doi:10.1016/s0140-6736(09)60229-4 · Cited by 1,634
Activity of SU11248, a Multitargeted Inhibitor of Vascular Endothelial Growth Factor Receptor and Platelet-Derived Growth Factor Receptor, in Patients With Metastatic Renal Cell Carcinoma
Motzer, R. J., Michaelson, M. D., Redman, B. G., Hudes, G. R., Wilding, G., Figlin, R. A., Ginsberg, M. S., Kim, S. T., Baum, C. M., DePrimo, S. E., et al. (2005) · Journal of Clinical Oncology · doi:10.1200/jco.2005.02.2574 · Cited by 1,630
von Hippel-Lindau disease
Lonser, R. R., Glenn, G. M., Walther, M. M., Chew, E. Y., Libutti, S. K., Linehan, W. M., & Oldfield, E. H. (2003) · The Lancet · doi:10.1016/s0140-6736(03)13643-4 · Cited by 1,630
Self-citation
Germline and somatic mutations in the tyrosine kinase domain of the MET proto-oncogene in papillary renal carcinomas
Schmidt, L. S., Duh, F.-M. C., Chen, F., Kishida, T., Glenn, G. M., Choyke, P. L., Scherer, S. W., Zhuang, Z., Lubensky, I. A., Dean, M. C., et al. (1997) · Nature Genetics · doi:10.1038/ng0597-68 · Cited by 1,517
Self-citation
Ubiquitination in disease pathogenesis and treatment
Popovic, D., Vucic, D., & Đikić, I. (2014) · Nature Medicine · doi:10.1038/nm.3739 · Cited by 1,443
Multiple pathways control cell growth and transformation: overlapping and independent activities of p53 and p21Cip1/WAF1/Sdi1
Cox, L. S. (1997) · The Journal of Pathology · doi:10.1002/(sici)1096-9896(199710)183:2 · Cited by 115
Self-citation
Hypoxic control of metastasis
Rankin, E. B., & Giaccia, A. J. (2016) · Science · doi:10.1126/science.aaf4405 · Cited by 1,340
Hypoxia-inducible expression of tumor-associated carbonic anhydrases.
Wykoff, C. C., Beasley, N. J. P., Watson, P. H., Turner, K., Pastorek, J., Sibtain, A., Wilson, G. D., Turley, H., Talks, K., Maxwell, P. H., et al. (2000) · PubMed · Cited by 1,260
Integrated molecular analysis of clear-cell renal cell carcinoma
Sato, Y., Yoshizato, T., Shiraishi, Y., Maekawa, S., Okuno, Y., Kamura, T., Shimamura, T., Sato‐Otsubo, A., Nagae, G., Suzuki, H., et al. (2013) · Nature Genetics · doi:10.1038/ng.2699 · Cited by 1,257
Hypoxia requires Notch signaling to maintain the undifferentiated cell state
Gustafsson, M. V., Zheng, X., Pereira, T., Gradin, K., Jin, S., Lundkvist, J., Ruas, J. L., Poellinger, L., Lendahl, U., & Bondesson, M. (2005) · Developmental Cell · doi:10.1016/j.devcel.2005.09.010 · Cited by 1,109
The FHIT Gene, Spanning the Chromosome 3p14.2 Fragile Site and Renal Carcinoma–Associated t(3;8) Breakpoint, Is Abnormal in Digestive Tract Cancers
Ohta, M., Inoue, H., Cotticelli, M. G., Kastury, K., Baffa, R., Palazzo, J., Siprashvili, Z., Mori, M., McCue, P. A., Druck, T., et al. (1996) · Cell · doi:10.1016/s0092-8674(00)81034-x · Cited by 978
BAP1 loss defines a new class of renal cell carcinoma
Peña‐Llopis, S., Vega-Rubín-de-Celis, S., Liao, A., Leng, N., Pavía-Jiménez, A., Wang, S., Yamasaki, T., Zhrebker, L., Sivanand, S., Spence, P., et al. (2012) · Nature Genetics · doi:10.1038/ng.2323 · Cited by 990
HIF overexpression correlates with biallelic loss of fumarate hydratase in renal cancer: Novel role of fumarate in regulation of HIF stability
Isaacs, J. S., Jung, Y. J., Mole, D. R., Lee, S., Torres-Cabala, C., Chung, Y.-L., Merino, M., Trepel, J., Zbar, B., Toro, J., et al. (2005) · Cancer Cell · doi:10.1016/j.ccr.2005.06.017 · Cited by 958
Self-citation
Role of VHL Gene Mutation in Human Cancer
Kim, W. Y., & Kaelin, W. G. (2004) · Journal of Clinical Oncology · doi:10.1200/jco.2004.05.061 · Cited by 953
HIF-1 and human disease: one highly involved factor
Semenza, G. L. (2000) · Genes & Development · doi:10.1101/gad.14.16.1983 · Cited by 909
Bevacizumab Plus Interferon Alfa Compared With Interferon Alfa Monotherapy in Patients With Metastatic Renal Cell Carcinoma: CALGB 90206
Rini, B. I., Halabi, S., Rosenberg, J. E., Stadler, W. M., Vaena, D. A., Ou, S., Archer, L. E., Atkins, J. N., Picus, J., Czaykowski, P. M., et al. (2008) · Journal of Clinical Oncology · doi:10.1200/jco.2008.16.9847 · Cited by 894
Negative regulation of hypoxia-inducible genes by the von Hippel-Lindau protein.
Iliopoulos, O., Levy, A. P., Jiang, C., Kaelin, W. G., & Goldberg, M. A. (1996) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.93.20.10595 · Cited by 896
Molecular basis of the VHL hereditary cancer syndrome
Kaelin, W. G. (2002) · Nature Reviews Cancer · doi:10.1038/nrc885 · Cited by 865
Structure of the VHL-ElonginC-ElonginB Complex: Implications for VHL Tumor Suppressor Function
Stebbins, C. E., Kaelin, W. G., & Pavletich, N. P. (1999) · Science · doi:10.1126/science.284.5413.455 · Cited by 852
Phase III Trial of Bevacizumab Plus Interferon Alfa Versus Interferon Alfa Monotherapy in Patients With Metastatic Renal Cell Carcinoma: Final Results of CALGB 90206
Rini, B. I., Halabi, S., Rosenberg, J. E., Stadler, W. M., Vaena, D. A., Archer, L. E., Atkins, J. N., Picus, J., Czaykowski, P. M., Dutcher, J. P., et al. (2010) · Journal of Clinical Oncology · doi:10.1200/jco.2009.26.5561 · Cited by 785
VHL, the story of a tumour suppressor gene
Gossage, L., Eisen, T. G., & Maher, E. R. (2014) · Nature reviews. Cancer · doi:10.1038/nrc3844 · Cited by 800
Inhibition of HIF is necessary for tumor suppression by the von Hippel-Lindau protein
Kondo, K., Klco, J., Nakamura, E., Lechpammer, M., & Kaelin, W. G. (2002) · Cancer Cell · doi:10.1016/s1535-6108(02)00043-0 · Cited by 761
The genetic basis of kidney cancer: a metabolic disease
Linehan, W. M., Srinivasan, R., & Schmidt, L. S. (2010) · Nature Reviews Urology · doi:10.1038/nrurol.2010.47 · Cited by 754
Self-citation
von Hippel–Lindau disease: A clinical and scientific review
Maher, E. R., Neumann, H. P. H., & Richard, S. (2011) · European Journal of Human Genetics · doi:10.1038/ejhg.2010.175 · Cited by 744
Targeting renal cell carcinoma with a HIF-2 antagonist
Chen, W., Hill, H., Christie, A., Kim, M. S., Holloman, E., Pavia-Jimenez, A., Homayoun, F., Ma, Y., Patel, N., Yell, P., et al. (2016) · Nature · doi:10.1038/nature19796 · Cited by 709
Tumour suppression by the human von Hippel-Lindau gene product
Iliopoulos, O., Kibel, A. S., Gray, S. G., & Kaelin, W. G. (1995) · Nature Medicine · doi:10.1038/nm0895-822 · Cited by 710
Therapeutic targeting of hypoxia and hypoxia-inducible factors in cancer
Wigerup, C., Påhlman, S., & Bexell, D. (2016) · Pharmacology & Therapeutics · doi:10.1016/j.pharmthera.2016.04.009 · Cited by 687
“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).”
Background
Binding of the von Hippel-Lindau Tumor Suppressor Protein to Elongin B and C
Kibel, A. S., Iliopoulos, O., DeCaprio, J. A., & Kaelin, W. G. (1995) · Science · doi:10.1126/science.7660130 · Cited by 664
Integrated Profiling of MicroRNAs and mRNAs: MicroRNAs Located on Xq27.3 Associate with Clear Cell Renal Cell Carcinoma
Zhou, L., Chen, J., Li, Z., Li, X., Hu, X., Huang, Y., Zhao, X., Liang, C. Y., Wang, Y., Sun, L., et al. (2010) · PLoS ONE · doi:10.1371/journal.pone.0015224 · Cited by 647
Adjuvant sunitinib or sorafenib for high-risk, non-metastatic renal-cell carcinoma (ECOG-ACRIN E2805): a double-blind, placebo-controlled, randomised, phase 3 trial
Haas, N. B., Manola, J. B., Uzzo, R. G., Flaherty, K. T., Wood, C. G., Kane, C. J., Jewett, M. A. S., Dutcher, J. P., Atkins, M. B., Pins, M., et al. (2016) · The Lancet · doi:10.1016/s0140-6736(16)00559-6 · Cited by 631
The Cancer Genome Atlas of renal cell carcinoma: findings and clinical implications
Linehan, W. M., & Ricketts, C. J. (2019) · Nature Reviews Urology · doi:10.1038/s41585-019-0211-5 · Cited by 644
Self-citation
Inhibition of HIF2α Is Sufficient to Suppress pVHL-Defective Tumor Growth
Kondo, K., Kim, W. Y., Lechpammer, M., & Kaelin, W. G. (2003) · PLoS Biology · doi:10.1371/journal.pbio.0000083 · Cited by 611
Renal Tumors in the Birt-Hogg-Dubé Syndrome
Pavlovich, C. P., Walther, M. M., Eyler, R. A., Hewitt, S. M., Zbar, B., Linehan, W. M., & Merino, M. J. (2002) · The American Journal of Surgical Pathology · doi:10.1097/00000478-200212000-00002 · Cited by 601
Self-citation
Improved Identification of von Hippel-Lindau Gene Alterations in Clear Cell Renal Tumors
Nickerson, M. L., Jaeger, E., Shi, Y., Durocher, J. A., Mahurkar, S., Zaridze, D. G., Matveev, V. B., Janout, V., Kollárová, H., Bencko, V., et al. (2008) · Clinical Cancer Research · doi:10.1158/1078-0432.ccr-07-4921 · Cited by 605
Self-citation
Heat shock protein 90 as a molecular target for cancer therapeutics
Isaacs, J. S., Xu, W., & Neckers, L. (2003) · Cancer Cell · doi:10.1016/s1535-6108(03)00029-1 · Cited by 576
Molecular Subsets in Renal Cancer Determine Outcome to Checkpoint and Angiogenesis Blockade
Motzer, R. J., Banchereau, R., Hamidi, H., Powles, T. B., McDermott, D. F., Atkins, M. B., Escudier, B. J., Liu, L.-F., Leng, N., Abbas, A. R., et al. (2020) · Cancer Cell · doi:10.1016/j.ccell.2020.10.011 · Cited by 584
Inhibition of Transcription Elongation by the VHL Tumor Suppressor Protein
Duan, D. R., Pause, A., Burgess, W. H., Aso, T., Chen, D. Y. T., Garrett, K. P., Conaway, R. C., Conaway, J. W., Linehan, W. M., & Klausner, R. D. (1995) · Science · doi:10.1126/science.7660122 · Cited by 566
Self-citation
Germline mutations in the von Hippel-Lindau disease tumor suppressor gene: Correlations with phenotype
Chen, F., Kishida, T., Yao, M., Hustad, T., Glavač, D., Dean, M. C., Gnarra, J. R., Orcutt, M. L., Duh, F.-M. C., Glenn, G. M., et al. (1995) · Human Mutation · doi:10.1002/humu.1380050109 · Cited by 551
Self-citation
KLF4, p21 and context-dependent opposing forces in cancer
Rowland, B. D., & Peeper, D. S. (2005) · Nature reviews. Cancer · doi:10.1038/nrc1780 · Cited by 566
von Hippel-Lindau Disease
Maher, E. R., & Kaelin, W. G. (1997) · Medicine · doi:10.1097/00005792-199711000-00001 · Cited by 532
Understanding Pathologic Variants of Renal Cell Carcinoma: Distilling Therapeutic Opportunities from Biologic Complexity
Shuch, B. M., Amin, A., Armstrong, A. J., Eble, J. N., Ficarra, V., Antonio Lopez-beltran, B., Martignoni, G., Rini, B. I., & Kutikov, A. (2014) · European Urology · doi:10.1016/j.eururo.2014.04.029 · Cited by 536
Post-transcriptional regulation of vascular endothelial growth factor mRNA by the product of the VHL tumor suppressor gene.
Gnarra, J. R., Zhou, S., Merrill, M. J., WAGNER, J. R., Krumm, A., Papavassiliou, E. D., Oldfield, E. H., Klausner, R. D., & Linehan, W. M. (1996) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.93.20.10589 · Cited by 531
Self-citation
Identification of the von Hippel–Lindau tumor-suppressor protein as part of an active E3 ubiquitin ligase complex
Iwai, K., Yamanaka, K., Kamura, T., Minato, N., Conaway, R. C., Conaway, J. W., Klausner, R. D., & Pause, A. (1999) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.96.22.12436 · Cited by 508
Mutation characterization of CFTR gene in 206 Northern Irish CF families: Thirty mutations, including two novel, account for 94% of CF chromosomes
Hughes, D. J., Hill, A. J. M., Maçek, M., Redmond, A. O. B., Nevin, N. C., & Graham, C. A. (1996) · Human Mutation · doi:10.1002/(sici)1098-1004(1996)8:4 · Cited by 26
Self-citation
Renal cell carcinoma
Cairns, P. (2011) · Cancer Biomarkers · doi:10.3233/cbm-2011-0176 · Cited by 511
HIF activation identifies early lesions in VHL kidneys
Mandriota, S. J., Turner, K. J., Davies, D. R., Murray, P. G., Morgan, N. V., Sowter, H. M., Wykoff, C. C., Maher, E. R., Harris, A. L., Ratcliffe, P. J., et al. (2002) · Cancer Cell · doi:10.1016/s1535-6108(02)00071-5 · Cited by 483
The von Hippel-Lindau Tumor Suppressor Protein Is Required for Proper Assembly of an Extracellular Fibronectin Matrix
Ohh, M., Yauch, R. L., Lonergan, K. M., Whaley, J. M., Stemmer-Rachamimov, A. O., Louis, D. N., Gavin, B. J., Kley, N., Kaelin, W. G., & Iliopoulos, O. (1998) · Molecular Cell · doi:10.1016/s1097-2765(00)80096-9 · Cited by 472
The Genetic Basis of Cancer of the Kidney
Linehan, W. M., Walther, M. M., & Zbar, B. (2003) · The Journal of Urology · doi:10.1097/01.ju.0000096060.92397.ed · Cited by 471
Self-citation
Silencing of Epidermal Growth Factor Receptor Suppresses Hypoxia-Inducible Factor-2–Driven VHL −/− Renal Cancer
Smith, K., Gunaratnam, L., Morley, M., Franovic, A., Mekhail, K., & Lee, S. (2005) · Cancer Research · doi:10.1158/0008-5472.can-05-0169 · Cited by 457
The contribution of VHL substrate binding and HIF1-α to the phenotype of VHL loss in renal cell carcinoma
Maranchie, J. K., Vasselli, J. R., Riss, J., Bonifacino, J. S., Linehan, W. M., & Klausner, R. D. (2002) · Cancer Cell · doi:10.1016/s1535-6108(02)00044-2 · Cited by 440
Self-citation
Vascular tumors in livers with targeted inactivation of the von Hippel–Lindau tumor suppressor
Haase, V. H., Glickman, J. N., Socolovsky, M., & Jaenisch, R. (2001) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.98.4.1583 · Cited by 430
RINGs of good and evil: RING finger ubiquitin ligases at the crossroads of tumour suppression and oncogenesis
Lipkowitz, S., & Weissman, A. M. (2011) · Nature reviews. Cancer · doi:10.1038/nrc3120 · Cited by 422
Hypoxia, Hypoxia-inducible Transcription Factors, and Renal Cancer
Schödel, J., Grampp, S., Maher, E. R., Moch, H., Ratcliffe, P. J., Russo, P., & Mole, D. R. (2015) · European Urology · doi:10.1016/j.eururo.2015.08.007 · Cited by 420
Protein Knockdown Using Methyl Bestatin−Ligand Hybrid Molecules: Design and Synthesis of Inducers of Ubiquitination-Mediated Degradation of Cellular Retinoic Acid-Binding Proteins
Itoh, Y., Ishikawa, M., Naito, M., & Hashimoto, Y. (2010) · Journal of the American Chemical Society · doi:10.1021/ja100691p · Cited by 404
Biology and Clinical Development of Vascular Endothelial Growth Factor–Targeted Therapy in Renal Cell Carcinoma
Rini, B. I., & Small, E. J. (2004) · Journal of Clinical Oncology · doi:10.1200/jco.2005.01.186 · Cited by 411
Up-regulation of hypoxia-inducible factors HIF-1α and HIF-2α under normoxic conditions in renal carcinoma cells by von Hippel-Lindau tumor suppressor gene loss of function
Krieg, M., Haas, R., Brauch, H., Acker, T., Flamme, I., & Plate, K. H. (2000) · Oncogene · doi:10.1038/sj.onc.1203938 · Cited by 396
Self-citation
Down-regulation of transmembrane carbonic anhydrases in renal cell carcinoma cell lines by wild-type von Hippel-Lindau transgenes
Ivanov, S. V., Kuzmin, I., Wei, M.-H., Pack, S., Geil, L., Johnson, B. E., Stanbridge, E. J., & Lerman, M. I. (1998) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.95.21.12596 · Cited by 394
Self-citation
DNA Methylation
Singal, R., & Ginder, G. D. (1999) · Blood · doi:10.1182/blood.v93.12.4059 · Cited by 393
High-Throughput Tissue Microarray Analysis to Evaluate Genes Uncovered by cDNA Microarray Screening in Renal Cell Carcinoma
Moch, H., Schraml, P., Bubendorf, L., Mirlacher, M., Kononen, J., Gasser, T., Mihatsch, M. J., Kallioniemi, O., & Sauter, G. (1999) · American Journal Of Pathology · doi:10.1016/s0002-9440(10)65349-7 · Cited by 388
von Hippel-Lindau protein mutants linked to type 2C VHL disease preserve the ability to downregulate HIF.
Hoffman, M. A. (2001) · Human Molecular Genetics · doi:10.1093/hmg/10.10.1019 · Cited by 382
Regulation of Hypoxia-Inducible mRNAs by the von Hippel-Lindau Tumor Suppressor Protein Requires Binding to Complexes Containing Elongins B/C and Cul2
Lonergan, K. M., Iliopoulos, O., Ohh, M., Kamura, T., Conaway, R., Conaway, J. W., & Kaelin, W. G. (1998) · Molecular and Cellular Biology · doi:10.1128/mcb.18.2.732 · Cited by 383
The von Hippel-Lindau tumor suppressor protein is a component of an E3 ubiquitin-protein ligase activityPreprint
Lisztwan, J. H., Imbert, G., Wirbelauer, C., Gstaiger, M., & Krek, W. (1999) · Genes & Development · doi:10.1101/gad.13.14.1822 · Cited by 380
Highly penetrant hereditary cancer syndromes
Nagy, R. S., Sweet, K. M., & Eng, C. (2004) · Oncogene · doi:10.1038/sj.onc.1207714 · Cited by 399
Renal cell carcinoma
Rini, B. I., Campbell, S. C., & Rathmell, W. K. (2006) · Current Opinion in Oncology · doi:10.1097/01.cco.0000219260.60714.c4 · Cited by 380
Methylation associated inactivation of RASSF1A from region 3p21.3 in lung, breast and ovarian tumours
Agathanggelou, A., Honorio, S., Macartney-Coxson, D. P., Martinez, A., Dallol, A., Rader, J. S., Fullwood, P., Chauhan, A., Walker, R. A., Shaw, J., et al. (2001) · Oncogene · doi:10.1038/sj.onc.1204175 · Cited by 378
Self-citation
Contrasting effects on HIF-1alpha regulation by disease-causing pVHL mutations correlate with patterns of tumourigenesis in von Hippel-Lindau disease
Clifford, S. C. (2001) · Human Molecular Genetics · doi:10.1093/hmg/10.10.1029 · Cited by 373
HIF hydroxylation and the mammalian oxygen-sensing pathway
Safran, M., & Kaelin, W. G. (2003) · Journal of Clinical Investigation · doi:10.1172/jci200318181 · Cited by 365
HIF hydroxylation and the mammalian oxygen-sensing pathway
Safran, M., & Kaelin, W. G. (2003) · Journal of Clinical Investigation · doi:10.1172/jci18181 · Cited by 368
Renal Cyst Development in Mice with Conditional Inactivation of the von Hippel-Lindau Tumor Suppressor
Rankin, E. B., Tomaszewski, J. E., & Haase, V. H. (2006) · Cancer Research · doi:10.1158/0008-5472.can-05-3241 · Cited by 363
Use of Antibodies to RCC and CD10 in the Differential Diagnosis of Renal Neoplasms
Avery, A. K., Beckstead, J. H., Renshaw, A. A., & Corless, C. L. (2000) · The American Journal of Surgical Pathology · doi:10.1097/00000478-200002000-00006 · Cited by 351
Up-regulation of Delta-like 4 Ligand in Human Tumor Vasculature and the Role of Basal Expression in Endothelial Cell Function
Patel, N. S., Li, J.-L., Generali, D., Poulsom, R., Cranston, D. W., & Harris, A. L. (2005) · Cancer Research · doi:10.1158/0008-5472.can-05-1208 · Cited by 349
Low mitochondrial respiratory chain content correlates with tumor aggressiveness in renal cell carcinoma
Simonnet, H. (2002) · Carcinogenesis · doi:10.1093/carcin/23.5.759 · Cited by 346
The Concise Handbook of Family Cancer Syndromes
Lindor, N. M., Greene, M. H., & Program, M. F. C. (1998) · JNCI Journal of the National Cancer Institute · doi:10.1093/jnci/90.14.1039 · Cited by 338
The von Hippel-Lindau Tumor Suppressor Gene Product Interacts with Sp1 To Repress Vascular Endothelial Growth Factor Promoter Activity
Mukhopadhyay, D., Knebelmann, B., Cohen, H. T., Karumanchi, S. A., & Sukhatme, V. P. (1997) · Molecular and Cellular Biology · doi:10.1128/mcb.17.9.5629 · Cited by 337
von Hippel-Lindau Disease
Kaelin, W. G. (2006) · Annual Review of Pathology Mechanisms of Disease · doi:10.1146/annurev.pathol.2.010506.092049 · Cited by 349
The Metabolic Basis of Kidney Cancer
Linehan, W. M., Schmidt, L. S., Crooks, D. R., Wei, D., Srinivasan, R., Lang, M., & Ricketts, C. J. (2019) · Cancer Discovery · doi:10.1158/2159-8290.cd-18-1354 · Cited by 350
Self-citation
Regulation of microtubule stability by the von Hippel-Lindau tumour suppressor protein pVHL
Hergovich, A., Lisztwan, J. H., Barry, R. E., Ballschmieter, P., & Krek, W. (2002) · Nature Cell Biology · doi:10.1038/ncb899 · Cited by 334
Deletions of the Short Arm of Chromosome 3 in Solid Tumors and the Search for Suppressor Genes
Kok, K., Naylor, S. L., & Buys, C. H. C. M. (1997) · Advances in cancer research · doi:10.1016/s0065-230x(08)60096-2 · Cited by 334
Oxygen sensors and angiogenesis
Maxwell, P. H., & Ratcliffe, P. J. (2002) · Seminars in Cell and Developmental Biology · doi:10.1006/scdb.2001.0287 · Cited by 333
Elongin (SIII): A Multisubunit Regulator of Elongation by RNA Polymerase II
Aso, T., Lane, W. S., Conaway, J. W., & Conaway, R. C. (1995) · Science · doi:10.1126/science.7660129 · Cited by 327
Up-regulation of vascular endothelial growth factor and its receptors in von Hippel-Lindau disease-associated and sporadic hemangioblastomas.
Wizigmann-Voos, S., Breier, G., Risau, W., & Plate, K. H. (1995) · PubMed · Cited by 326
Geriatric assessment in oncology
Reuben, D. B. (1997) · Cancer · doi:10.1002/(sici)1097-0142(19971001)80:7 · Cited by 48
Identification of the von Hippel-Lindau (VHL) Gene
Linehan, W. M. (1995) · JAMA · doi:10.1001/jama.273.7.564 · Cited by 318
Self-citation
Genetic analysis of von Hippel-Lindau disease
Nordstrom-O'Brien, M., van der Luijt, R. B., van Rooijen, E., van den Ouweland, A. M., Majoor‐Krakauer, D. F., Lolkema, M. P., van Brussel, A. S. A., Voest, E. E., & Giles, R. H. (2010) · Human Mutation · doi:10.1002/humu.21219 · Cited by 320
Molecular Genetics of Clear-Cell Renal Cell Carcinoma
Brugarolas, J. (2014) · Journal of Clinical Oncology · doi:10.1200/jco.2012.45.2003 · Cited by 318
Constitutive activation of hypoxia-inducible genes related to overexpression of hypoxia-inducible factor-1alpha in clear cell renal carcinomas.
Wiesener, M. S., Münchenhagen, P., Berger, I., Morgan, N. V., Roigas, J., Schwiertz, A., Jürgensen, J. S., Gruber, G., Maxwell, P. H., Löning, S. A., et al. (2001) · PubMed · Cited by 308
Expression Profiling of Renal Epithelial Neoplasms
Young, A. N., Amin, M. B., Moreno, C. S., Lim, S. D., Cohen, C., Petros, J. A., Marshall, F. F., & Neish, A. S. (2001) · American Journal Of Pathology · doi:10.1016/s0002-9440(10)64120-x · Cited by 307
A germline insertion in the tuberous sclerosis (Tsc2) gene gives rise to the Eker rat model of dominantly inherited cancer
Kobayashi, T., Hirayama, Y., Kobayashi, E., Kubo, Y., & Hino, O. (1995) · Nature Genetics · doi:10.1038/ng0195-70 · Cited by 303
Treatment of Metastatic Renal Cell Carcinoma With a Combination of Bevacizumab and Erlotinib
Hainsworth, J. D., Sosman, J. A., Spigel, D. R., Edwards, D. L., Baughman, C., & Greco, A. (2005) · Journal of Clinical Oncology · doi:10.1200/jco.2005.01.8234 · Cited by 299
Genetic alterations in breast cancer
Bièche, I., & Lidereau, R. (1995) · Genes Chromosomes and Cancer · doi:10.1002/gcc.2870140402 · Cited by 303
Somatic mutations of the MEN1 tumor suppressor gene in sporadic gastrinomas and insulinomas.
Zhuang, Z., Vortmeyer, A. O., Pack, S., Huang, S., Pham, T. A., Wang, C., Park, W. S., Agarwal, S. K., Debelenko, L., Kester, M. B., et al. (1997) · PubMed · Cited by 294
Self-citation
The candidate tumor suppressor gene, RASSF1A , from human chromosome 3p21.3 is involved in kidney tumorigenesis
Dreijerink, K. M. A., Александровна, Б. Э., Kuzmin, I., Geil, L., Duh, F.-M. C., Angeloni, D., Zbar, B., Lerman, M. I., Stanbridge, E. J., Minna, J. D., et al. (2001) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.131216298 · Cited by 293
Self-citation

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: Gnarra, J.R.
Schmidt, L.
Wei, M.H.
Lubensky, I.
Bander, N.H.
Brauch, H.
Brooks, J.D.
Isaacs, W.B.
Lerman, M.I.
Linehan, W.M.
Venue: Nature Genetics
Publisher: Springer Science and Business Media LLC
Published: 1994-05
Volume: 7
Issue: 1
Pages: 85-90
ISSN: 1061-4036 (ISSN-L)
1546-1718
DOI: 10.1038/ng0594-85
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

About these checks

Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.

Statistics and arithmetic are recomputed, not judged.

Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.

What counts as a claim ›How we measure confidence ›How we check this ›

Are you an author, or do you see a problem with this page? Request a review

Mutations of the VHL tumour suppressor gene in renal carcinoma

Abstract

Overview

Integrity signals

Verification

Claims the paper makes

Claims other papers make about this one

Citations

Cites

Cited by

Related

Metadata

Record

About these checks