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Article

A vitronectin M381T polymorphism increases risk of hemangioblastoma in patients with VHL gene defect.

Journal of molecular medicine (Berlin, Germany) - 1 Jun 2009

Huang Jing-Shan, Lin Chih-Ming, Cheng Yu-Che, Hung Kun-Long, Chien Chih-Cheng, Chen Shao-Kuan, Chang Chih-Ju, Chen Chan-Wei, Huang Chi-Jung

Abstract excerpt

Hemangioblastomas, highly vascular tumors, occur sporadically or associated with von Hippel-Lindau (VHL) disease. Diverse mutations in the VHL gene inactivate the VHL protein and constitute the molecular etiology of the disease. Changes in VHL gene were analyzed in patients with multiplex ligatio...

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Source

Identifiers

PMID: 19288063
DOI: 10.1007/s00109-009-0456-1

Genes

VHL

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19288063-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

A vitronectin M381T polymorphism increases risk of hemangioblastoma in patients with VHL gene defect.PMID 19288063Read ↗

Sporadic hemangioblastomas are characterized by cryptic VHL inactivation.Semantic proximity Read ↗

Association of a polymorphism of the ACVRL1 gene with sporadic arteriovenous malformations of the central nervous systemSemantic proximity Read ↗

Genotype-phenotype analysis of von Hippel-Lindau syndrome in Korean families: HIF-α binding site missense mutations elevate age-specific risk for CNS hemangioblastoma.Semantic proximity Read ↗

Frequency of Von Hippel‐Lindau germline mutations in classic and non‐classic Von Hippel‐Lindau disease identified by DNA sequencing, Southern blot analysis and multiplex ligation‐dependent probe amplificationSemantic proximity Read ↗

Intronic mutation of the VHL gene associated with central nervous system hemangioblastomas in two Chinese families with Von Hippel-Lindau disease: case report.Semantic proximity Read ↗

Deletion of the von Hippel-Lindau Gene in Hemangioblasts Causes Hemangioblastoma-like Lesions in Murine RetinaSemantic proximity Read ↗

Identification of a new VHL exon and complex splicing alterations in familial erythrocytosis or von Hippel-Lindau disease.Semantic proximity Read ↗

Investigation of germline VHL variants in Iranian patients with retinal capillary hemangioblastoma and genotype-phenotype analysis.Semantic proximity Read ↗

VHL mutation analysis in patients with isolated central nervous system haemangioblastomaSemantic proximity Read ↗

Exploring the role of defective fibronectin matrix assembly in the VHL-associated CNS hemangioblastoma.Semantic proximity Read ↗

Genotype-phenotype correlation in von Hippel-Lindau disease with retinal angiomatosis.Semantic proximity Read ↗

Proteostasis Modulation in Germline Missense von Hippel Lindau DiseaseSemantic proximity Read ↗

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