(Q36605344)

15 August 2017

A novel EPAS1/HIF2A germline mutation in a congenital polycythemia with paraganglioma (English)

1 reference

15 August 2017

0 references

8

Karel Pacak

1 reference

15 August 2017

Felipe R Lorenzo

1

1 reference

15 August 2017

Chunzhang Yang

2

1 reference

15 August 2017

Mark Ng Tang Fui

3

1 reference

15 August 2017

Hariprasad Vankayalapati

4

1 reference

15 August 2017

Zhengping Zhuang

5

1 reference

15 August 2017

Thanh Huynh

6

1 reference

15 August 2017

Mathis Grossmann

7

1 reference

15 August 2017

Josef T Prchal

9

1 reference

15 August 2017

23 October 2012

1 reference

Journal of Molecular Medicine

15 August 2017

1 reference

15 August 2017

91

1 reference

15 August 2017

4

1 reference

15 August 2017

507-512

1 reference

https://scigraph.springernature.com/pub.10.1007/s00109-012-0967-z

15 August 2017

0 references

cites work

Somatic HIF2A gain-of-function mutations in paraganglioma with polycythemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3570726

Transformation by the (R)-enantiomer of 2-hydroxyglutarate linked to EGLN activation.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3570726

Hypoxia-inducible factors in physiology and medicine

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3570726

Distinct deregulation of the hypoxia inducible factor by PHD2 mutants identified in germline DNA of patients with polycythemia

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3570726

Hypoxia. 5. Hypoxia and hematopoiesis

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3570726

Regulation of oxygen homeostasis by hypoxia-inducible factor 1.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3570726

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3570726

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3570726

HIF-1 mediates the Warburg effect in clear cell renal carcinoma

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3570726

Acute postnatal ablation of Hif-2alpha results in anemia

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3570726

Hypoxia-inducible factor-1 deficiency results in dysregulated erythropoiesis signaling and iron homeostasis in mouse development

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3570726

Structural basis for PAS domain heterodimerization in the basic helix-loop-helix-PAS transcription factor hypoxia-inducible factor

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3570726

Classification and molecular biology of polycythemias (erythrocytoses) and thrombocytosis

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3570726

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3570726

Disruption of oxygen homeostasis underlies congenital Chuvash polycythemia

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3570726

Genotype-phenotype correlation in von Hippel-Lindau syndrome

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3570726

HIF-1 and mechanisms of hypoxia sensing

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3570726

Absence of polycythemia in a child with a unique erythropoietin receptor mutation in a family with autosomal dominant primary polycythemia

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3570726

Endothelial PAS domain protein 1 (EPAS1), a transcription factor selectively expressed in endothelial cells

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3570726

General involvement of hypoxia-inducible factor 1 in transcriptional response to hypoxia

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3570726

PHD2 mutation and congenital erythrocytosis with paraganglioma.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3570726

Endemic polycythemia in Russia: mutation in the VHL gene.

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3570726

Molecular genetic analysis of von Hippel-Lindau disease.

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3570726

10.1007/S00109-012-0967-Z

20 September 2018

Identifiers

DOI

1 reference

15 August 2017

1 reference

15 August 2017

1 reference