(Q36837871)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18711622%20AND%20SRC:MED&resulttype=core&format=json

12 January 2020

review article

2 references

6 November 2020

Familial erythrocytosis arising from a gain-of-function mutation in the HIF2A gene of the oxygen sensing pathway (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18711622%20AND%20SRC:MED&resulttype=core&format=json

12 January 2020

1 reference

6 November 2020

1 reference

2 August 2019

1 reference

6 November 2020

1 reference

12 October 2019

basic helix-loop-helix transcription factor

1 reference

1 November 2020

1 reference

4 July 2020

genetic predisposition to disease

1 reference

10 September 2020

1 reference

Melanie J Percy

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18711622%20AND%20SRC:MED&resulttype=core&format=json

12 January 2020

publication date

1 May 2008

15 references

6 March 2019

20 June 2019

30 June 2019

2 August 2019

14 September 2019

12 October 2019

18 October 2019

4 November 2019

11 December 2019

22 December 2019

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18711622%20AND%20SRC:MED&resulttype=core&format=json

12 January 2020

4 July 2020

23 July 2020

1 November 2020

6 November 2020

Ulster Medical Journal

14 references

20 June 2019

30 June 2019

2 August 2019

14 September 2019

12 October 2019

18 October 2019

4 November 2019

11 December 2019

22 December 2019

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18711622%20AND%20SRC:MED&resulttype=core&format=json

12 January 2020

4 July 2020

23 July 2020

1 November 2020

6 November 2020

77

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18711622%20AND%20SRC:MED&resulttype=core&format=json

12 January 2020

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18711622%20AND%20SRC:MED&resulttype=core&format=json

12 January 2020

page(s)

86-88

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18711622%20AND%20SRC:MED&resulttype=core&format=json

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

12 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=2516423

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2516423

Acute postnatal ablation of Hif-2alpha results in anemia

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2516423

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2516423

A common polymorphism in the oxygen-dependent degradation (ODD) domain of hypoxia inducible factor-1alpha (HIF-1alpha) does not impair Pro-564 hydroxylation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2516423

Disruption of oxygen homeostasis underlies congenital Chuvash polycythemia

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2516423

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2516423

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

5 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18711622

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

The worldwide distribution of the VHL 598C&gt;T mutation indicates a single founding event

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18711622

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18711622%20AND%20SRC:MED&resulttype=core&format=json

12 January 2020

PubMed publication ID

18711622

1 reference