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

ACTA2 mutation and postpartum hemorrhage: a case report.

BMC medical genetics - 4 Dec 2017

Cooper Kylie, Brown Stephen

Abstract excerpt

BACKGROUND: ACTA2 encodes smooth muscle specific α-actin, a critical component or the contractile complex of vascular smooth muscle. Mutations in ACTA2 are the most common genetic cause of thoracic aortic aneurysm, and are also the cause of other disorders, including Moyamoya disease, coronary artery disease and stroke as well as Multisystemic Smooth Muscle Dysfunction Syndrome. We note that ACTA2 is also...

Read the complete abstract on PubMed

Topics

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

Share to Actins
Share to Amino Acid Substitution
Share to Aortic Dissection

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Predisposition to Disease

Share to Infant, Newborn

Share to Mutation, Missense

Share to Pregnancy

Share to Pregnancy Complications, Cardiovascular

Source

Open in PubMed Open full text

Identifiers

PMID: 29202781
DOI: 10.1186/s12881-017-0505-5
PMCID: PMC5715517

Genes

ACTA2

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

ACTA2 mutation and postpartum hemorrhage: a case report.PMID 29202781Read ↗

European reference network for rare vascular diseases (VASCERN) consensus statement for the screening and management of patients with pathogenic ACTA2 variants.Semantic proximity Read ↗

Acute aortic dissections with pregnancy in women with ACTA2 mutations.Semantic proximity Read ↗

Aneurysmal Dilatation of Ductus Arteriosus and Pulmonary Artery in Association With ACTA2 Mutation.Semantic proximity Read ↗

Expanding ACTA2 genotypes with corresponding phenotypes overlapping with smooth muscle dysfunction syndrome.Semantic proximity Read ↗

α-Smooth Muscle Actin and ACTA2 Gene Expressions in Vasculopathies.Semantic proximity Read ↗

Expanding the genetic and phenotypic spectrum of ACTA2-related vasculopathies in a Dutch cohort.Semantic proximity Read ↗

The natural history of a family with aortic dissection associated with a novel ACTA2 variant.Semantic proximity Read ↗

R179H mutation in ACTA2 expanding the phenotype to include prune-belly sequence and skin manifestations.Semantic proximity Read ↗

Neonatal diagnosis of ACTA2-related disease: A case report and review of literature.Semantic proximity Read ↗

Clinical, pathological, and genetic analysis of a Korean family with thoracic aortic aneurysms and dissections carrying a novel Asp26Tyr mutation.Semantic proximity Read ↗

Brachial artery occlusion in a young adult with an ACTA2 thoracic aortic aneurysm.Semantic proximity Read ↗

De novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction.Semantic proximity Read ↗

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