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  1. Last 7 days
  2. www.sciencedirect.com www.sciencedirect.com
    Sequence Variations in the von Hippel–Lindau Tumor Suppressor Gene in Patients with Intracranial Aneurysms
    1
    1. ClingenBaseline 31 Oct 2026
      The possible involvement of mutations in the VHL gene in aneurysm formation was supported by the fact that deregulations of various proteins and mediators occur in VHL disease that are involved in maintaining the structure of the arterial wall,18, 19, 20 including vascular endothelial growth factor (VEGF), matrix metalloproteinases (MMPs), collagen type III, fibronectin, elastase, laminin, alpha-1 antitrypsin, fibroblast growth factor, transforming growth factor (TGF), platelet-derived growth factor (PDGF), polycystin, fibrillin,18 and hypoxia-inducible factor (HIF).19, 20 Figure 2 reviews the effects that potentially facilitate aneurysm formation. Therefore, we investigated 200 patients with intracranial aneurysms and 100 probands of a random sample of the normal population for sequence variations in the VHL tumor suppressor gene using DHPLC.
      ExperimentalAssay ClinVarID:93330 ClinVarID:178692 ClinVarID:371898 ClinVarID:2223 ClinVarID:135951 ClinVarID:127830 ClinVarID:1244574 inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    sciencedirect.com/science/article/pii/S1052305713000220
  3. Oct 2026
  4. www.sciencedirect.com www.sciencedirect.com
    Sequence Variations in the von Hippel–Lindau Tumor Suppressor Gene in Patients with Intracranial Aneurysms
    1
    1. ClingenBaseline 22 Oct 2026
      c.463 + 8C > T (intron 2)

      PatientID: None

      KindredID: 6

      Case: Sex, Age, Ethnicity unknown

      DiseaseAssertion: dilatation of the cerebral artery

      FamilyInfo: None

      CasePresentingHPOs: HP:0004944 (dilatation of the cerebral artery)

      CaseHPOFreeText: Patient had an intracranial aneurysm

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: c.463+8C>T

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: 127830 https://www.ncbi.nlm.nih.gov/clinvar/variation/127830/

      CAID: N/A

      gnomAD: 0.0005055 https://gnomad.broadinstitute.org/variant/3-10188328-C-T

      VariantEvidence: N/A

      MutationType: splice_site_variant

      CivicName: Splice Region (c.463+8C>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:dilatationofthecerebralartery Mutation:Germline RefSeq:NM_000551.2 cDNAposition:463 ClinVarID:127830 ClinVarID:Yes MutationType:splice_site_variant NoFamilyInfo CivicName:SpliceRegion(c.463+8C>T) ExperimentalAssay inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
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    sciencedirect.com/science/article/pii/S1052305713000220