Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Topics Community

Article

The Role of VHL in the Development of von Hippel-Lindau Disease and Erythrocytosis.

Genes - 17 Feb 2022

Hudler Petra, Urbancic Mojca

Abstract excerpt

Von Hippel-Lindau disease (VHL disease or VHL syndrome) is a familial multisystem neoplastic syndrome stemming from germline disease-associated variants of the VHL tumor suppressor gene on chromosome 3. VHL is involved, through the EPO-VHL-HIF signaling axis, in oxygen sensing and adaptive response to hypoxia, as well as in numerous HIF-independent pathways. The diverse roles of VHL confirm its implication in...

Topics

Genotype
Humans
Mutation
Polycythemia
Von Hippel-Lindau Tumor Suppressor Protein
von Hippel-Lindau Disease

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 35205407
DOI: 10.3390/genes13020362
PMCID: PMC8871608

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

The Role of VHL in the Development of von Hippel-Lindau Disease and Erythrocytosis.PMID 35205407Read ↗

von Hippel-Lindau Disease: an UpdateSemantic proximity Read ↗

[From gene to disease; Von Hippel-Lindau disease].Semantic proximity Read ↗

Role of VHL gene mutation in human cancer.Semantic proximity Read ↗

Von Hippel–Lindau Disease: Molecular Pathological Basis, Clinical Criteria, Genetic Testing, Clinical Features of Tumors and TreatmentSemantic proximity Read ↗

Systemic <i>VHL</i> gene functions and the VHL diseaseSemantic proximity Read ↗

Genetics, Pathophysiology, and Current Challenges in Von Hippel-Lindau Disease TherapeuticsSemantic proximity Read ↗

VON HIPPEL–LINDAU DISEASESemantic proximity Read ↗

Von hippel-lindau disease: a genetic and clinical review.Semantic proximity Read ↗

Dysregulation of the HIF pathway due to VHL mutation causing severe erythrocytosis and pulmonary arterial hypertension.Semantic proximity Read ↗

Von Hippel-Lindau disease.Semantic proximity Read ↗

Von Hippel-Lindau Disease: Genetics and Role of Genetic Counseling in a Multiple Neoplasia Syndrome.Semantic proximity Read ↗

Genetically heterogeneous origins of idiopathic erythrocytosis.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.