Mutations of von Hippel-Lindau tumor-suppressor gene and congenital polycythemia. (Q33905244)

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5 November 2019

case report

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title

Mutations of von Hippel-Lindau tumor-suppressor gene and congenital polycythemia (English)

1 reference

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5 November 2019

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6

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5 November 2019

1

Yves Pastore

1 reference

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5 November 2019

8

Josef T Prchal

1 reference

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5 November 2019

author name string

Katerina Jedlickova

2

1 reference

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5 November 2019

Yongli Guan

3

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5 November 2019

Enli Liu

4

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5 November 2019

James Fahner

5

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5 November 2019

Jaroslav F Prchal

7

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5 November 2019

language of work or name

English

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publication date

3 July 2003

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American Journal of Human Genetics

5 November 2019

published in

1 reference

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5 November 2019

volume

73

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5 November 2019

issue

2

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5 November 2019

page(s)

412-419

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Classification and molecular biology of polycythemias (erythrocytoses) and thrombocytosis

5 November 2019

cites work

1 reference

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Disruption of oxygen homeostasis underlies congenital Chuvash polycythemia

5 July 2018

1 reference

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Structure of an HIF-1alpha -pVHL complex: hydroxyproline recognition in signaling

5 July 2018

1 reference

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C. elegans EGL-9 and mammalian homologs define a family of dioxygenases that regulate HIF by prolyl hydroxylation

5 July 2018

1 reference

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VHL c.505 T>C mutation confers a high age related penetrance but no increased overall mortality

5 July 2018

1 reference

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Contrasting effects on HIF-1alpha regulation by disease-causing pVHL mutations correlate with patterns of tumourigenesis in von Hippel-Lindau disease.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180379

von Hippel-Lindau protein mutants linked to type 2C VHL disease preserve the ability to downregulate HIF.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180379

HIFalpha targeted for VHL-mediated destruction by proline hydroxylation: implications for O2 sensing

5 July 2018

1 reference

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Targeting of HIF-alpha to the von Hippel-Lindau ubiquitylation complex by O2-regulated prolyl hydroxylation

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180379

Genotype-phenotype correlation in von Hippel-Lindau syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180379

HIF-1 and mechanisms of hypoxia sensing

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180379

Ubiquitination of hypoxia-inducible factor requires direct binding to the beta-domain of the von Hippel-Lindau protein

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180379

Tracheal development and the von Hippel-Lindau tumor suppressor homolog in Drosophila

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180379

Synthetic peptides define critical contacts between elongin C, elongin B, and the von Hippel-Lindau protein

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180379

An analysis of phenotypic variation in the familial cancer syndrome von Hippel-Lindau disease: evidence for modifier effects

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180379

Renal cell carcinomas in trichloroethene (TRI) exposed persons are associated with somatic mutations in the von Hippel-Lindau (VHL) tumour suppressor gene

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180379

Isolated familial pheochromocytoma as a variant of von Hippel-Lindau disease

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180379

von Hippel-Lindau disease: genetic, clinical, and imaging features

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180379

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180379

Mutation and childhood cancer: a probabilistic model for the incidence of retinoblastoma

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180379

Mutations in the VHL gene in sporadic apparently congenital polycythemia

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180379

Endemic polycythemia in Russia: mutation in the VHL gene.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180379

Genetic heterogeneity of primary familial and congenital polycythemia

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180379

Molecular genetic analysis of von Hippel-Lindau disease

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180379

Chuvash-type congenital polycythemia in 4 families of Asian and Western European ancestry

29 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/12844285

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Erythrocytosis associated with spontaneous erythroid colony formation and idiopathic hypererythropoietinemia

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/12844285

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Congenital polycythemia in Chuvashia

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/12844285

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1086/377108

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12844285%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12844285%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

PubMed publication ID

12844285

1 reference