ArticleCancer research2014
Genetic evidence of a precisely tuned dysregulation in the hypoxia signaling pathway during oncogenesis.
Article in Cancer research, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
25 citing papers in PubMed, 38 citations in OpenAlex.
- Unraveling the impact of VHL exon 2 mutations in erythrocytosis or von Hippel-Lindau disease identified RNA-binding proteins involved in VHL splicing.American journal of human genetics · 2025Article
- Molecular dynamics reveal potential effects of novel VHL variants on VHL-Elongin C binding in ccRCC patients from Eastern India.Scientific reports · 2025Article
- "Incidentally" discovered Von Hippel Lindau disease: an emerging clinical phenotype.The oncologist · 2025Article
- Article
- Repurposing Synthetic Congeners of a Natural Product Aurone Unveils a Lead Antitumor Agent Inhibiting Folded P-Loop Conformation of MET Receptor Tyrosine Kinase.Pharmaceuticals (Basel, Switzerland) · 2023Article
- Characterization of genetic variants in theHaematologica · 2023Article
- ComprehensiveHaematologica · 2023Article
- Hypoxia-inducible factors: cancer progression and clinical translation.The Journal of clinical investigation · 2022Review
- Impaired oxygen-sensitive regulation of mitochondrial biogenesis within the von Hippel-Lindau syndrome.Nature metabolism · 2022Article
- Early-onset and severe pulmonary arterial hypertension due to a novel compound heterozygous association of rarePulmonary circulation · 2022Article
- Review
- Article
- The Most CommonCancers · 2021Article
- rs779805 Von Hippel-Lindau Gene Polymorphism Induced/Related Polycythemia Entity, Clinical Features, Cancer Association, and Familiar Characteristics.Pathology oncology research : POR · 2021Article
- Dysregulation of Zinc Finger Protein 395 Contributes to the Pathogenesis of Chondrosarcoma.OncoTargets and therapy · 2021Article
- [A case of familial erythrocytosis type 2 caused by VHL gene mutation].Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi · 2020Article
- Genetic screening for monogenic hypertension in hypertensive individuals in a clinical setting.Journal of medical genetics · 2020Article
- Mutational profile and genotype/phenotype correlation of non-familial pheochromocytoma and paraganglioma.Oncotarget · 2019Article
- "Infostery" analysis of short molecular dynamics simulations identifies highly sensitive residues and predicts deleterious mutations.Scientific reports · 2018Article
- Integrative analysis of dysregulated microRNAs and mRNAs in multiple recurrent synchronized renal tumors from patients with von Hippel-Lindau disease.International journal of oncology · 2018Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
27 authors at 10 institutions in 3 countries.
Funding
Abstract
The classic model of tumor suppression implies that malignant transformation requires full "two-hit" inactivation of a tumor-suppressor gene. However, more recent work in mice has led to the proposal of a "continuum" model that involves more fluid concepts such as gene dosage-sensitivity and tissue specificity. Mutations in the tumor-suppressor gene von Hippel-Lindau (VHL) are associated with a complex spectrum of conditions. Homozygotes or compound heterozygotes for the R200W germline mutation in VHL have Chuvash polycythemia, whereas heterozygous carriers are free of disease. Individuals with classic, heterozygous VHL mutations have VHL disease and are at high risk of multiple tumors (e.g., CNS hemangioblastomas, pheochromocytoma, and renal cell carcinoma). We report here an atypical family bearing two VHL gene mutations in cis (R200W and R161Q), together with phenotypic analysis, structural modeling, functional, and transcriptomic studies of these mutants in comparison with classical mutants involved in the different VHL phenotypes. We demonstrate that the complex pattern of disease manifestations observed in VHL syndrome is perfectly correlated with a gradient of VHL protein (pVHL) dysfunction in hypoxia signaling pathways. Thus, by studying naturally occurring familial mutations, our work validates in humans the "continuum" model of tumor suppression.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.