Article

Functionally significant, novel variants of <i>BMP4</i> are associated with isolated congenital heart disease

2025-05-29

Abstract excerpt

<h4> Abstract </h4> Bone morphogenetic proteins (BMPs) are multipotent cytokines of TGFβ super family, involved in wide range of biological processes including embryonic development, tissue differentiation, cell proliferation, migration and organogenesis. BMP signaling also plays a pivotal role during different phases of cardiogenesis. Although genetic variations in several components of BMP signaling have been...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 2e10204e-2193-5b46-8b91-deeb29f6e608
DOI: 10.1101/2025.05.26.656099

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Functionally significant, novel variants of <i>BMP4</i> are associated with isolated congenital heart diseaseDOI 10.1101/2025.05.26.656099Read

Implication of novel variants of <i>BMP2</i> in isolated congenital heart disease: Functional characterization by <i>in silico</i> and <i>invitro</i> approachesSemantic proximity Read

Deciphering the functional association of novel variants of <i>BMP7</i> in isolated congenital heart disease by integrating <i>in vitro</i> and <i>in silico</i> approachesSemantic proximity Read

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

Characterization of human bone morphogenetic protein gene variants for possible roles in congenital heart disease.Semantic proximity Read

Discovery and functional investigation of BMP4 as a new causative gene for human congenital heart diseaseSemantic proximity Read

Common variations in BMP4 confer genetic susceptibility to sporadic congenital heart disease in a Han Chinese population.Semantic proximity Read

SMAD1 Loss‐of‐Function Variant Responsible for Congenital Heart DiseaseSemantic proximity Read

Clinical significance linked to functional defects in bone morphogenetic protein type 2 receptor, BMPR2.Semantic proximity Read

BMP signaling in congenital heart disease: New developments and future directionsSemantic proximity Read

Association of IRX4 synonymous variants with congenital heart disease: Leveraging in-silico approaches to predict the functional impactSemantic proximity Read

Single-cell RNA sequencing reveals that BMPR2 mutation regulates right ventricular function via ID genes.Semantic proximity Read

A Novel Heterozygous c.1024A>G Variant in BMPR1B Causes Either Isolated Brachydactyly Type A4 With Variable Expressivity or Incomplete Type A4 Overlapping Type D in a Chinese Han Pedigree.Semantic proximity Read