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

Dominant-negative ALK2 allele associates with congenital heart defects.

Circulation - 23 Jun 2009

Smith Kelly A, Joziasse Irene C, Chocron Sonja, van Dinther Maarten, Guryev Victor, Verhoeven Manon C, Rehmann Holger, van der Smagt Jasper J, Doevendans Pieter A, Cuppen Edwin, Mulder Barbara J, Ten Dijke Peter, Bakkers Jeroen

Abstract excerpt

BACKGROUND: Serious congenital heart defects occur as a result of improper atrioventricular septum (AVS) development during embryogenesis. Despite extensive knowledge of the genetic control of AVS development, few genetic lesions have been identified that are responsible for AVS-associated congenital heart defects. METHODS AND RESULTS: We sequenced 32 genes known to be important in AVS development in patients...

Read the complete abstract on PubMed

Topics

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

Share to Activin Receptors, Type I
Share to Chlorocebus aethiops

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to COS Cells

Share to Heart Septal Defects

Share to Myocardium

Share to Netherlands

Share to Zebrafish

Source

Identifiers

PMID: 19506109
DOI: 10.1161/CIRCULATIONAHA.108.843714

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 · 11 closest

Dominant-negative ALK2 allele associates with congenital heart defects.PMID 19506109Read ↗

ALK2 mutation in a patient with Down's syndrome and a congenital heart defect.Semantic proximity Read ↗

The expanding clinical phenotype of germline ABL1-associated congenital heart defects and skeletal malformations syndrome.Semantic proximity Read ↗

Human ABL1 deficiency syndrome (HADS) is a recognizable syndrome distinct from ABL1-related congenital heart defects and skeletal malformations syndrome.Semantic proximity Read ↗

Involvement of a novel GATA4 mutation in atrial septal defectsSemantic proximity Read ↗

Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformationsSemantic proximity Read ↗

Cardiac outflow tract defects in mice lacking ALK2 in neural crest cells.Semantic proximity Read ↗

A Novel Missense Mutation of the ABL1 Gene in a Child With Congenital Heart Defects and Skeletal Malformations Syndrome.Semantic proximity Read ↗

Variant BMP receptor mutations causing fibrodysplasia ossificans progressiva (FOP) in humans show BMP ligand-independent receptor activation in zebrafish.Semantic proximity Read ↗

Role of mutation and pharmacologic block of human KCNH2 in vasculogenesis and fetal mortality: partial rescue by transforming growth factor-β.Semantic proximity Read ↗

Functional modeling in zebrafish demonstrates that the atrial-fibrillation-associated geneGREM2regulates cardiac laterality, cardiomyocyte differentiation and atrial rhythmSemantic proximity Read ↗

A mutation in the Kozak sequence of GATA4 hampers translation in a family with atrial septal defects.Semantic proximity Read ↗

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