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

Pulmonary Arterial Hypertension and Hereditary Haemorrhagic Telangiectasia

17 Oct 2018

Abstract excerpt

Hereditary haemorrhagic telangiectasia (HHT) is an autosomal dominant inherited disease characterised by multisystemic vascular dysplasia. Heritable pulmonary arterial hypertension (HPAH) is a rare but severe complication of HHT. Both diseases can be the result of genetic mutations in ACVLR1 and ENG encoding for proteins involved in the transforming growth factor-beta (TGF-β) superfamily, a signalling pathway...

Read the complete abstract on PubMed

Topics

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

Share to Pulmonary Hypertension Research and Treatments
Share to Vascular Anomalies and Treatments

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 30336550
DOI: 10.3390/ijms19103203

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Pulmonary Arterial Hypertension and Hereditary Haemorrhagic TelangiectasiaPMID 30336550Read ↗

Pulmonary hypertension associated with hereditary haemorrhagic telangiectasia: from genetics to clinical management.Semantic proximity Read ↗

Hereditary haemorrhagic telangiectasia and pulmonary arteriovenous malformations: issues in clinical management and review of pathogenic mechanisms.Semantic proximity Read ↗

Pulmonary Vascular Complications in Hereditary Hemorrhagic Telangiectasia and the Underlying Pathophysiology.Semantic proximity Read ↗

Hereditary Haemorrhagic Telangiectasia, an Inherited Vascular Disorder in Need of Improved Evidence-Based Pharmaceutical Interventions.Semantic proximity Read ↗

An update on preclinical models of hereditary haemorrhagic telangiectasia: Insights into disease mechanismsSemantic proximity Read ↗

Hereditary haemorrhagic telangiectasia: a clinical and scientific review.Semantic proximity Read ↗

Pulmonary arterio-venous malformations in a patient with a novel mutation in exon 10 of the ACVRL1 gene.Semantic proximity Read ↗

Hereditary haemorrhagic telangiectasia: current views on genetics and mechanisms of diseaseSemantic proximity Read ↗

Molecular defects in rare bleeding disorders: hereditary haemorrhagic telangiectasia.Semantic proximity Read ↗

Pulmonary arterial hypertension in hereditary hemorrhagic telangiectasia associated with ACVRL1 mutation: a case report.Semantic proximity Read ↗

Hereditary haemorrhagic telangiectasia (Osler-Weber-Rendu syndrome): a view from the 21st centurySemantic proximity Read ↗

Mutations in the ENG, ACVRL1, and SMAD4 genes and clinical manifestations of hereditary haemorrhagic telangiectasia: experience from the Center for Osler’s Disease, Uppsala University HospitalSemantic proximity Read ↗

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