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Article

Altered hypoxia inducible factor regulation in hereditary haemorrhagic telangiectasia.

Scientific reports - 7 Apr 2022

Wrobeln Anna, Leu Tristan, Jablonska Jadwiga, Geisthoff Urban, Lang Stephan, Fandrey Joachim, Droege Freya

Abstract excerpt

Patients with hereditary haemorrhagic telangiectasia (HHT), also known as Rendu-Osler-Weber syndrome, suffer from the consequences of abnormal vessel structures. These structures can lead to haemorrhages or shunt effects in liver, lungs and brain. This inherited and rare disease is characterized by mutations affecting the transforming growth factor-β (TGF-β)/Bone Morphogenetic Protein (BMP) pathway that results...

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Share to Arteriovenous Malformations
Share to Hypoxia-Inducible Factor 1, alpha Subunit

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Telangiectasia, Hereditary Hemorrhagic

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Source

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Identifiers

PMID: 35393474
DOI: 10.1038/s41598-022-09759-9
PMCID: PMC8988913

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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