Germ-line mutation analysis in patients with von Hippel-Lindau disease in Japan: an extended study of 77 families. (Q55312690)

1 July 2018

title

Germ-line mutation analysis in patients with von Hippel-Lindau disease in Japan: an extended study of 77 families. (English)

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1 July 2018

von Hippel-Lindau disease

main subject

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M Yoshida

1

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1 July 2018

S Ashida

2

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1 July 2018

K Kondo

3

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1 July 2018

K Kobayashi

4

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1 July 2018

H Kanno

5

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1 July 2018

N Shinohara

6

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1 July 2018

N Shitara

7

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1 July 2018

T Kishida

8

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1 July 2018

S Kawakami

9

1 reference

1 July 2018

M Baba

10

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1 July 2018

I Yamamoto

11

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1 July 2018

M Hosaka

12

1 reference

1 July 2018

T Shuin

13

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1 July 2018

M Yao

14

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1 July 2018

publication date

1 February 2000

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1 July 2018

number of pages

9

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Japanese Journal of Cancer Research

inferred from page(s)

published in

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1 July 2018

volume

91

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1 July 2018

issue

2

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1 July 2018

page(s)

204-212

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1 July 2018

An important von Hippel-Lindau tumor suppressor domain mediates Sp1-binding and self-association

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3 July 2018

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Rbx1, a component of the VHL tumor suppressor complex and SCF ubiquitin ligase

3 July 2018

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Structure of the VHL-ElonginC-ElonginB complex: implications for VHL tumor suppressor function

3 July 2018

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pVHL19 is a biologically active product of the von Hippel-Lindau gene arising from internal translation initiation

3 July 2018

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A second major native von Hippel-Lindau gene product, initiated from an internal translation start site, functions as a tumor suppressor.

3 July 2018

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The von Hippel-Lindau tumor suppressor protein is required for proper assembly of an extracellular fibronectin matrix

3 July 2018

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Regulation of hypoxia-inducible mRNAs by the von Hippel-Lindau tumor suppressor protein requires binding to complexes containing elongins B/C and Cul2

3 July 2018

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Allelic deletion and mutation of the von Hippel-Lindau (VHL) tumor suppressor gene in pancreatic microcystic adenomas.

3 July 2018

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The von Hippel-Lindau tumor suppressor gene product interacts with Sp1 to repress vascular endothelial growth factor promoter activity

3 July 2018

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Somatic inactivation of the VHL gene in Von Hippel-Lindau disease tumors.

3 July 2018

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

3 July 2018

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Lessons from hereditary colorectal cancer

3 July 2018

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Mutations in the RET proto-oncogene and the von Hippel-Lindau disease tumour suppressor gene in sporadic and syndromic phaeochromocytomas

3 July 2018

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Identification of a novel protein (VBP-1) binding to the von Hippel-Lindau (VHL) tumor suppressor gene product

3 July 2018

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Molecular genetic diagnosis of von Hippel-Lindau disease: analysis of five Japanese families.

3 July 2018

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Somatic von Hippel-Lindau mutation in clear cell papillary cystadenoma of the epididymis

3 July 2018

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Identification of the von Hippel-Lindau disease tumor suppressor gene

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5926327

Frequent somatic mutations and loss of heterozygosity of the von Hippel-Lindau tumor suppressor gene in primary human renal cell carcinomas.

3 July 2018

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Somatic mutations of the von Hippel-Lindau tumor suppressor gene in sporadic central nervous system hemangioblastomas.

3 July 2018

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Mutations of the VHL tumour suppressor gene in renal carcinoma

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5926327

Somatic mutations of the von Hippel-Lindau disease tumour suppressor gene in non-familial clear cell renal carcinoma

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5926327

Cloning and characterization of a mouse gene with homology to the human von Hippel-Lindau disease tumor suppressor gene: implications for the potential organization of the human von Hippel-Lindau disease gene

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5926327

Binding of the von Hippel-Lindau tumor suppressor protein to Elongin B and C

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5926327

Inhibition of transcription elongation by the VHL tumor suppressor protein

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5926327

Characterization of the VHL tumor suppressor gene product: localization, complex formation, and the effect of natural inactivating mutations

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5926327

Assessing the underlying pattern of human germline mutations: lessons from the factor IX gene

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5926327

Third International Meeting on von Hippel-Lindau disease.

3 July 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5926327

Improved detection of germline mutations in the von Hippel-Lindau disease tumor suppressor gene

12 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5926327

Direct Interaction of the β-Domain of VHL Tumor Suppressor Protein with the Regulatory Domain of Atypical PKC Isotypes

12 August 2018

1 reference

Crossref

https://api.crossref.org/works/10.1111%2FJ.1349-7006.2000.TB00933.X

VHL gene mutation and clear-cell renal carcinomas

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/10761708

12 December 2020

inferred from PubMed ID database lookup

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

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/10761708

12 December 2020

inferred from PubMed ID database lookup

Cellular proteins that bind the von Hippel-Lindau disease gene product: mapping of binding domains and the effect of missense mutations

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/10761708

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1111/J.1349-7006.2000.TB00933.X

1 reference

1 July 2018

PMCID

5926327

1 reference

1 July 2018

PubMed ID

10761708

1 reference

1 July 2018