ReviewSeminars in cell & developmental biology2021
Role of cilia in the pathogenesis of congenital heart disease.
Review in Seminars in cell & developmental biology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
32 citing papers in PubMed, 47 citations in OpenAlex.
- Phenotypic Expansion and Molecular Implications in Recessive FUZ -Related Ciliopathy.Clinical genetics · 2026Article
- Review
- Broadening horizons: new links between cilia and heart development and disease.Frontiers in cardiovascular medicine · 2026Review
- Tubulin Post-Translational Modifications in Cardiovascular Diseases: Emerging Mechanisms and Therapeutic Modulation by Traditional Chinese Medicine.Drug design, development and therapy · 2026Review
- Loss-of-function variants in ciliary genes confer high risk for tetralogy of Fallot.Science advances · 2025Article
- The prevalence of laterality defects in patients with congenital heart disease.Journal of human genetics · 2025Article
- Ciliary biology intersects autism and congenital heart disease.Development (Cambridge, England) · 2025Article
- Decoding congenital heart disease: a multi-omic framework for cardiac lineage and regulatory dysfunction.Frontiers in cell and developmental biology · 2025Review
- Breaking Left-Right Symmetry by the Interplay of Planar Cell Polarity, Calcium Signaling and Cilia.Cells · 2024Review
- Increased endothelial sclerostin caused by elevated DSCAM mediates multiple trisomy 21 phenotypes.The Journal of clinical investigation · 2024Article
- Identification of a novel MYO1D variant associated with laterality defects, congenital heart diseases, and sperm defects in humans.Frontiers of medicine · 2024Article
- Non-canonical role for the BAF complex subunit DPF3 in mitosis and ciliogenesis.Journal of cell science · 2024Article
- INPP5E Regulates the Distribution of Phospholipids on Cilia in RPE1 Cells.Journal of clinical laboratory analysis · 2024Article
- Cilia Structure and Function in Human Disease.Current opinion in endocrine and metabolic research · 2024Article
- Morphoelastic models discriminate between different mechanisms of left-right asymmetric stomach morphogenesis.Cells & development · 2024Article
- Functions of cilia in cardiac development and disease.Annals of human genetics · 2024Review
- Clinical Characteristics and Immune Responses in Children with Primary Ciliary Dyskinesia during Pneumonia Episodes: A Case-Control Study.Children (Basel, Switzerland) · 2023Article
- Congenital heart defects caused by FOXJ1.Human molecular genetics · 2023Article
- Insights into the genetic architecture of congenital heart disease from animal modeling.Zoological research · 2023Review
- Composition, organization and mechanisms of the transition zone, a gate for the cilium.EMBO reports · 2022Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 1 institution in 1 country.
Funding
Abstract
An essential role for cilia in the pathogenesis of congenital heart disease (CHD) has emerged from findings of a large-scale mouse forward genetic screen. High throughput screening with fetal ultrasound imaging followed by whole exome sequencing analysis recovered a preponderance of cilia related genes and cilia transduced cell signaling genes among mutations identified to cause CHD. The perturbation of left-right patterning in CHD pathogenesis is suggested by the association of CHD with heterotaxy, but also by the finding of the co-occurrence of laterality defects with CHD in birth defect registries. Many of the cilia and cilia cell signaling genes recovered were found to be related to Hedgehog signaling. Studies in mice showed cilia transduced hedgehog signaling coordinates left-right patterning with heart looping and differentiation of the heart tube. Cilia transduced Shh signaling also regulates later events in heart development, including outflow tract septation and formation of the atrioventricular septum. More recent work has shown mutations in cilia related genes may also contribute to valve disease that largely manifest in adult life. Overall, these and other findings show cilia play an important role in CHD and also in more common valve diseases.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.