(Q36102876)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22367913%20AND%20SRC:MED&resulttype=core&format=json

24 January 2020

title

Two new mutations in the HIF2A gene associated with erythrocytosis (English)

1 reference

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24 January 2020

13

1 reference

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24 January 2020

author name string

Melanie J Percy

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22367913%20AND%20SRC:MED&resulttype=core&format=json

24 January 2020

Yu Jin Chung

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22367913%20AND%20SRC:MED&resulttype=core&format=json

24 January 2020

Claire Harrison

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22367913%20AND%20SRC:MED&resulttype=core&format=json

24 January 2020

Jane Mercieca

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22367913%20AND%20SRC:MED&resulttype=core&format=json

24 January 2020

A Victor Hoffbrand

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22367913%20AND%20SRC:MED&resulttype=core&format=json

24 January 2020

Carla L Dinardo

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22367913%20AND%20SRC:MED&resulttype=core&format=json

24 January 2020

Paulo C J L Santos

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22367913%20AND%20SRC:MED&resulttype=core&format=json

24 January 2020

Guilherme H H Fonseca

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22367913%20AND%20SRC:MED&resulttype=core&format=json

24 January 2020

Sandra F M Gualandro

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22367913%20AND%20SRC:MED&resulttype=core&format=json

24 January 2020

Alexandre C Pereira

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22367913%20AND%20SRC:MED&resulttype=core&format=json

24 January 2020

Terence R J Lappin

11

1 reference

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24 January 2020

Mary Frances McMullin

12

1 reference

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24 January 2020

publication date

24 February 2012

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22367913%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Hematology

24 January 2020

published in

1 reference

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24 January 2020

volume

87

1 reference

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24 January 2020

issue

4

1 reference

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24 January 2020

page(s)

439-442

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22367913%20AND%20SRC:MED&resulttype=core&format=json

Hypoxia. 5. Hypoxia and hematopoiesis

24 January 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3399664

HIF pathway mutations and erythrocytosis

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3399664

Hypoxia-inducible factors and the response to hypoxic stress

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3399664

The HIF pathway and erythrocytosis

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3399664

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3399664

Sequencing of 50 human exomes reveals adaptation to high altitude

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3399664

Natural selection on EPAS1 (HIF2alpha) associated with low hemoglobin concentration in Tibetan highlanders

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3399664

Genetic evidence for high-altitude adaptation in Tibet

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3399664

Regulated oxygen sensing by protein hydroxylation in renal erythropoietin-producing cells

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3399664

Structural basis for binding of hypoxia-inducible factor to the oxygen-sensing prolyl hydroxylases

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3399664

Erythrocytosis-associated HIF-2alpha mutations demonstrate a critical role for residues C-terminal to the hydroxylacceptor proline

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3399664

Oxygen sensing by metazoans: the central role of the HIF hydroxylase pathway

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3399664

Novel exon 12 mutations in the HIF2A gene associated with erythrocytosis

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3399664

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3399664

Erythropoietin after a century of research: younger than ever

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3399664

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3399664

Oxygen-dependent and tissue-specific regulation of erythropoietin gene expression

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3399664

Oxygen sensing by HIF hydroxylases

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3399664

Disruption of oxygen homeostasis underlies congenital Chuvash polycythemia

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3399664

Sequence determinants in hypoxia-inducible factor-1alpha for hydroxylation by the prolyl hydroxylases PHD1, PHD2, and PHD3.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3399664

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3399664

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3399664

Autosomal dominant erythrocytosis and pulmonary arterial hypertension associated with an activating HIF2 alpha mutation.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3399664

Familial erythrocytosis: molecular links to red blood cell control.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3399664

A novel heterozygous HIF2AM535I mutation reinforces the role of oxygen sensing pathway disturbances in the pathogenesis of familial erythrocytosis.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3399664

23 September 2018

Identifiers

DOI

10.1002/AJH.23123

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22367913%20AND%20SRC:MED&resulttype=core&format=json

release_hlr5kfsl35exrli7fbfheuzdgi

24 January 2020

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/hlr5kfsl35exrli7fbfheuzdgi

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22367913%20AND%20SRC:MED&resulttype=core&format=json

24 January 2020

1 reference

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