Discover Community Create You

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

Article

A variety of phenotype with R161Q germline mutation of the von Hippel-Lindau tumor suppressor gene in Japanese kindred.

International journal of molecular medicine - 1 Mar 2004

Iida Keiji, Okimura Yasuhiko, Takahashi Kentaro, Inomata Sumie, Iguchi Genzo, Kaji Hidesuke, Chihara Kazuo

Abstract excerpt

Von Hippel-Lindau (VHL) syndrome is an autosomal dominant neoplastic disorder characterized by hemangioblastomas of the central nervous system and retina, renal cell carcinomas, pheochromocytoma, and islet cell tumors. This syndrome is closely related with the VHL, a tumor suppressor gene, implying that loss of function or inactivating mutations of both alleles or copies of this gene cause tumor formation. The...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Genes, Tumor Suppressor
Share to Germ-Line Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Tumor Suppressor Proteins

Share to Twins, Monozygotic

Share to Ubiquitin-Protein Ligases

Share to von Hippel-Lindau Disease

Share to Von Hippel-Lindau Tumor Suppressor Protein

Source

Identifiers

PMID: 14767570

Genes

VHL

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A variety of phenotype with R161Q germline mutation of the von Hippel-Lindau tumor suppressor gene in Japanese kindred.PMID 14767570Read ↗

Germline mutations in the Von Hippel-Lindau disease (VHL) gene in families from North America, Europe, and Japan.Semantic proximity Read ↗

Germline mutations in the von Hippel-Lindau disease (VHL) gene in Japanese VHL. Clinical Research Group for VHL in Japan.Semantic proximity Read ↗

Genotype-phenotype correlations in Chinese von Hippel-Lindau disease patients.Semantic proximity Read ↗

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

Clinical and genetic investigation of a multi-generational Chinese family afflicted with Von Hippel-Lindau disease.Semantic proximity Read ↗

Genotype-specific neoplastic risk profiles in patients with VHL diseaseSemantic proximity Read ↗

Von Hippel‐Lindau diseaseSemantic proximity Read ↗

von Hippel-Lindau disease: recent advances and therapeutic perspectives.Semantic proximity Read ↗

Germline mutation of Glu70Lys is highly frequent in Korean patients with von Hippel-Lindau (VHL) disease.Semantic 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 ↗

Germ-line mutation analysis in patients with von Hippel-Lindau disease in Japan: an extended study of 77 families.Semantic proximity Read ↗

Molecular genetic analysis and mutation screening of the VHL gene in a Japanese family with von Hippel-Lindau disease.Semantic proximity Read ↗

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