Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

A Knock-in Mouse Model of Human PHD2 Gene-associated Erythrocytosis Establishes a Haploinsufficiency Mechanism

12 Oct 2013

Abstract excerpt

The central pathway for controlling red cell mass is the PHD (prolyl hydroxylase domain protein):hypoxia-inducible factor (HIF) pathway. HIF, which is negatively regulated by PHD, activates numerous genes, including ones involved in erythropoiesis, such as the ERYTHROPOIETIN (EPO) gene. Recent studies have implicated PHD2 as the key PHD isoform regulating red cell mass. Studies of humans have identified...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Cancer, Hypoxia, and Metabolism
Share to Lipid metabolism and disorders
Share to Metabolism, Diabetes, and Cancer

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 24121508
DOI: 10.1074/jbc.m113.482364

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A Knock-in Mouse Model of Human PHD2 Gene-associated Erythrocytosis Establishes a Haploinsufficiency MechanismPMID 24121508Read ↗

The role of PHD2 mutations in the pathogenesis of erythrocytosisSemantic proximity Read ↗

Isolated erythrocytosis: study of 67 patients and identification of three novel germ-line mutations in the prolyl hydroxylase domain protein 2 (PHD2) geneSemantic proximity Read ↗

Cardiopulmonary phenotype associated with human PHD2 mutation.Semantic proximity Read ↗

Somatic inactivation of the PHD2 prolyl hydroxylase causes polycythemia and congestive heart failure.Semantic proximity Read ↗

A novel erythrocytosis-associated PHD2 mutation suggests the location of a HIF binding groove.Semantic proximity Read ↗

HIF pathway mutations and erythrocytosis.Semantic proximity Read ↗

Congenital erythrocytosis.Semantic proximity Read ↗

Oxygen sensing: recent insights from idiopathic erythrocytosis.Semantic proximity Read ↗

Alteration of the DNA Methylation Signature of Renal Erythropoietin-Producing Cells Governs the Sensitivity to Drugs Targeting the Hypoxia-Response Pathway in Kidney Disease ProgressionSemantic proximity Read ↗

<i>PHD2</i> Mutation and Congenital Erythrocytosis with ParagangliomaSemantic proximity Read ↗

Molecular Insights into the Oxygen-Sensing Pathway and Erythropoietin Expression Regulation in ErythropoiesisSemantic proximity Read ↗

Familial erythrocytosis arising from a gain-of-function mutation in the HIF2A gene of the oxygen sensing pathway.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.