Article

Patient-informed CRISPR Screen Identifies FLNB as a Novel Congenital Heart Disease and Ciliopathy Gene

2025-10-15

Abstract excerpt

<h4>ABSTRACT</h4> Heterotaxy (HTX) syndrome is a congenital disorder characterized by abnormal left-right organ placement, often leading to severe congenital heart defects (CHD). Despite advances in sequencing, many CHD/HTX-associated genes remain functionally unvalidated, hindering effective clinical diagnosis and management. Here, we leveraged a high-throughput CRISPR/Cas9 screening approach in the Xenopus mod...

Topics

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

Identifiers and source

Literature Corpus work: e548fdb0-24ef-5b6d-9163-18adb154081b
DOI: 10.1101/2025.10.14.682288

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Patient-informed CRISPR Screen Identifies FLNB as a Novel Congenital Heart Disease and Ciliopathy GeneDOI 10.1101/2025.10.14.682288Read

Patient-informed CRISPR screen identifies FLNB as a congenital heart disease and ciliopathy gene.Semantic proximity Read

Congenital heart defects caused by FOXJ1Semantic proximity Read

Integrative Functional Genomics Identifies ARHGAP10 in the 4q31.2 Locus as a Novel Congenital Heart Disease and Ciliopathy GeneSemantic proximity Read

Ciliary biology intersects autism and congenital heart diseaseSemantic proximity Read

Compound heterozygous DAW1 variants reveal tissue-specific roles in left-right patterning and congenital heart disease without primary ciliary dyskinesiaSemantic proximity Read

CFAP45, a heterotaxy and congenital heart disease gene, affects cilia stability.Semantic proximity Read

Genetic drivers of congenital cardiac fibrosis.Semantic proximity Read

Ciliary biology intersects autism and congenital heart diseaseSemantic proximity Read

Ciliopathies in Complex Congenital Heart Disease: Molecular Genetics, Embryologic Mechanisms and Clinical Implications.Semantic proximity Read

Systems Analysis Implicates WAVE2 Complex in the Pathogenesis of Developmental Left-Sided Obstructive Heart DefectsSemantic proximity Read

Reduced NODAL signaling strength via mutation of several pathway members including FOXH1 is linked to human heart defects and holoprosencephaly.Semantic proximity Read

Using CRISPR/Cas9 to investigate the role of candidate human disease gene orthologs in CionaSemantic proximity Read