Novel exon 12 mutations in the HIF2A gene associated with erythrocytosis (Q24649372)

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Language	Label	Description	Also known as
English	Novel exon 12 mutations in the HIF2A gene associated with erythrocytosis	scientific article

Statements

instance of

scholarly article

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case report

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title

Novel exon 12 mutations in the HIF2A gene associated with erythrocytosis (English)

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main subject

cell biology

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author name string

Melanie J Percy

series ordinal

1

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Philip A Beer

series ordinal

2

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Gavin Campbell

series ordinal

3

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Ad W Dekker

series ordinal

4

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Anthony R Green

series ordinal

5

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David Oscier

series ordinal

6

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M Glenn Rainey

series ordinal

7

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Richard van Wijk

series ordinal

8

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Marion Wood

series ordinal

9

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Terence R J Lappin

series ordinal

10

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Mary Frances McMullin

series ordinal

11

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Frank S Lee

series ordinal

12

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language of work or name

English

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publication date

1 June 2008

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published in

Blood

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volume

111

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issue

11

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page(s)

5400-2

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cites work

A gain-of-function mutation in the HIF2A gene in familial erythrocytosis

1 reference

stated in

PubMed Central

reference URL

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7 April 2017

A novel erythrocytosis-associated PHD2 mutation suggests the location of a HIF binding groove

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PubMed Central

reference URL

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retrieved

7 April 2017

A family with erythrocytosis establishes a role for prolyl hydroxylase domain protein 2 in oxygen homeostasis

1 reference

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PubMed Central

reference URL

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7 April 2017

Structural basis for the recognition of hydroxyproline in HIF-1 alpha by pVHL

1 reference

stated in

PubMed Central

reference URL

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retrieved

7 April 2017

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

1 reference

stated in

PubMed Central

reference URL

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retrieved

7 April 2017

A conserved family of prolyl-4-hydroxylases that modify HIF

1 reference

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PubMed Central

reference URL

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retrieved

7 April 2017

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

1 reference

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PubMed Central

reference URL

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7 April 2017

HIF-1alpha binding to VHL is regulated by stimulus-sensitive proline hydroxylation

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2396730

retrieved

7 April 2017

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

1 reference

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PubMed Central

reference URL

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7 April 2017

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

1 reference

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PubMed Central

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7 April 2017

Von Hippel-Lindau-dependent polycythemia is endemic on the island of Ischia: identification of a novel cluster.

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PubMed Central

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28 September 2017

Role of VHL gene mutation in human cancer

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PubMed Central

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28 September 2017

Disruption of oxygen homeostasis underlies congenital Chuvash polycythemia

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PubMed Central

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28 September 2017

Congenital disorder of oxygen sensing: association of the homozygous Chuvash polycythemia VHL mutation with thrombosis and vascular abnormalities but not tumors

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PubMed Central

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retrieved

30 May 2018

Disturbance in the HIF-1alpha pathway associated with erythrocytosis: further evidences brought by frameshift and nonsense mutations in the prolyl hydroxylase domain protein 2 (PHD2) gene

1 reference

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PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2396730

retrieved

28 November 2018

Life with oxygen

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stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2396730

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28 November 2018

Mutations in the von Hippel-Lindau (VHL) tumor suppressor gene and VHL-haplotype analysis in patients with presumable congenital erythrocytosis.

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PubMed Central

reference URL

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28 November 2018

Mutations in the VHL gene in sporadic apparently congenital polycythemia

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2396730

retrieved

28 November 2018

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

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/18378852

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

DOI

10.1182/BLOOD-2008-02-137703

1 reference

stated in

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

3573649

OpenCitations bibliographic resource ID

3573649

1 reference

stated in

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

3573649

PMC publication ID

2396730

1 reference

stated in

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

3573649

PubMed publication ID

18378852

1 reference

stated in

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

3573649

ResearchGate publication ID

5473518

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