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

SMAD3 pathogenic variants: risk for thoracic aortic disease and associated complications from the Montalcino Aortic Consortium.

Journal of medical genetics - 1 Apr 2019

Hostetler Ellen M, Regalado Ellen S, Guo Dong-Chuan, Hanna Nadine, Arnaud Pauline, Muiño-Mosquera Laura, Callewaert Bert Louis, Lee Kwanghyuk, Leal Suzanne M, Wallace Stephanie E, Rideout Andrea L, Dyack Sarah, Aatre Rajani D, Boileau Catherine, De Backer Julie, Jondeau Guillaume, Milewicz Dianna M

Abstract excerpt

BACKGROUND: Pathogenic variants in SMAD3 cause thoracic aortic aneurysms and dissections, along with aneurysms and rupture of other arteries. Here, we examined differences in clinical presentation of aortic events (dissection or surgical repair of an aneurysm) with respect to age and variant type in an international cohort of individuals with SMAD3 variants. METHODS: Aortic status and events, vital status and...

Read the complete abstract on PubMed

Topics

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

Share to Amino Acid Substitution
Share to Aortic Aneurysm, Thoracic

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Child, Preschool

Share to Genetic Association Studies

Share to Prognosis

Share to Protein Domains

Share to Risk Factors

Share to Smad3 Protein

Source

Identifiers

PMID: 30661052
DOI: 10.1136/jmedgenet-2018-105583

Genes

SMAD3

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

SMAD3 pathogenic variants: risk for thoracic aortic disease and associated complications from the Montalcino Aortic Consortium.PMID 30661052Read ↗

Clinical and genetic data of 22 new patients with SMAD3 pathogenic variants and review of the literature.Semantic proximity Read ↗

SMAD4 rare variants in individuals and families with thoracic aortic aneurysms and dissectionsSemantic proximity Read ↗

Exome Sequencing Identifies SMAD3 Mutations as a Cause of Familial Thoracic Aortic Aneurysm and Dissection With Intracranial and Other Arterial AneurysmsSemantic proximity Read ↗

Sexual dimorphism in SMAD3 pathogenic variant-harbouring individualsSemantic proximity Read ↗

Functional analysis of cell lines derived from SMAD3-related Loeys-Dietz Syndrome patients provides insights into genotype-phenotype relationsSemantic proximity Read ↗

Comparative Risks of Initial Aortic Events Associated With Genetic Thoracic Aortic Disease.Semantic proximity Read ↗

Clinical Implications of Identifying Pathogenic Variants in Individuals With Thoracic Aortic DissectionSemantic proximity Read ↗

Clinical implications of identifying pathogenic variants in aortic dissection patients with whole exome sequencingSemantic proximity Read ↗

Variable cardiovascular phenotypes associated with SMAD2 pathogenic variants.Semantic proximity Read ↗

The genetics of aortopathies: Hereditary thoracic aortic aneurysms and dissections.Semantic proximity Read ↗

Insights on Prevalence of Hereditary Aortic Thoracic Disease and Impact on Family Screening in Routine Clinical Cardiothoracic Surgery CareSemantic proximity Read ↗

Aggressive cardiovascular phenotype of aneurysms-osteoarthritis syndrome caused by pathogenic SMAD3 variants.Semantic proximity Read ↗

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