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

Variable cardiovascular phenotypes associated with SMAD2 pathogenic variants.

Human mutation - 1 Dec 2018

Granadillo Jorge L, Chung Wendy K, Hecht Leah, Corsten-Janssen Nicole, Wegner Daniel, Nij Bijvank Sebastiaan W A, Toler Tomi L, Pineda-Alvarez Daniel E, Douglas Ganka, Murphy Joshua J, Shimony Joshua, Shinawi Marwan

Abstract excerpt

SMAD2 is a downstream effector in the TGF-β signaling pathway, which is important for pattern formation and tissue differentiation. Pathogenic variants in SMAD2 have been reported in association with arterial aneurysms and dissections and in large cohorts of subjects with complex congenital heart disease (CHD). We used whole exome sequencing (WES) to investigate the molecular cause of CHD and other congenital...

Read the complete abstract on PubMed

Topics

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

Share to Aortic Aneurysm
Share to Child

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Child, Preschool

Share to Exome Sequencing

Share to Heart Defects, Congenital

Share to Pregnancy

Share to Smad2 Protein

Source

Identifiers

PMID: 30157302
DOI: 10.1002/humu.23627

Genes

SMAD2

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

Variable cardiovascular phenotypes associated with SMAD2 pathogenic variants.PMID 30157302Read ↗

SMAD2 Mutations Are Associated with Arterial Aneurysms and Dissections.Semantic proximity Read ↗

Novel pathogenic SMAD2 variants in five families with arterial aneurysm and dissection: further delineation of the phenotype.Semantic proximity Read ↗

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

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 ↗

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

Modeling SMAD2 Mutations in Induced Pluripotent Stem Cells Provides Insights Into Cardiovascular Disease Pathogenesis.Semantic 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 ↗

SMAD4 loss-of-function mutation predisposes to congenital heart disease.Semantic proximity Read ↗

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

Candidate Gene Resequencing in a Large Bicuspid Aortic Valve-Associated Thoracic Aortic Aneurysm Cohort: SMAD6 as an Important ContributorSemantic proximity Read ↗

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