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

SMAD1 Loss‐of‐Function Variant Responsible for Congenital Heart Disease

1 Jan 2022

Abstract excerpt

As the most common form of developmental malformation affecting the heart and endothoracic great vessels, congenital heart disease (CHD) confers substantial morbidity and mortality as well as socioeconomic burden on humans globally. Aggregating convincing evidence highlights the genetic origin of CHD, and damaging variations in over 100 genes have been implicated with CHD. Nevertheless, the genetic basis...

Read the complete abstract on PubMed

Topics

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

Share to Congenital heart defects research
Share to Congenital Heart Disease Studies
Share to Genomics and Rare Diseases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 35281600
DOI: 10.1155/2022/9916325

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

SMAD1 Loss‐of‐Function Variant Responsible for Congenital Heart DiseasePMID 35281600Read ↗

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

De novo mutations in histone-modifying genes in congenital heart disease.Semantic proximity Read ↗

An update on the molecular diagnosis of congenital heart disease: focus on loss-of-function mutations.Semantic proximity Read ↗

A Novel TBX1 Loss-of-Function Mutation Associated with Congenital Heart Disease.Semantic proximity Read ↗

Molecular Genetics and Complex Inheritance of Congenital Heart Disease.Semantic proximity Read ↗

KLF13 loss-of-function variation contributes to familial congenital heart defects.Semantic proximity Read ↗

Of mice and men: molecular genetics of congenital heart disease.Semantic proximity Read ↗

Uncovering the Genetic Basis of Congenital Heart Disease: Recent Advancements and Implications for Clinical ManagementSemantic proximity Read ↗

A New TBX5 Loss-of-Function Mutation Contributes to Congenital Heart Defect and Atrioventricular BlockSemantic proximity Read ↗

Other genomic disorders and congenital heart diseaseSemantic proximity Read ↗

Molecular genetics of congenital heart disease.Semantic proximity Read ↗

Genomic analysis of 11,555 probands identifies 60 dominant congenital heart disease genesSemantic proximity Read ↗

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