ArticleHuman genetics2016
ANKS3 is mutated in a family with autosomal recessive laterality defect.
Article in Human genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 19 citations in OpenAlex.
- Bicc1 ribonucleoprotein complexes specifying organ laterality are licensed by ANKS6-induced structural remodeling of associated ANKS3.PLoS biology · 2023Article
- Article
- An exome-first approach to aid in the diagnosis of primary ciliary dyskinesia.Human genetics · 2020Article
- Nephronophthisis gene products display RNA-binding properties and are recruited to stress granules.Scientific reports · 2020Article
- Kinase Interaction Network Expands Functional and Disease Roles of Human Kinases.Molecular cell · 2020Article
- Molecular and cellular basis of left-right asymmetry in vertebrates.Proceedings of the Japan Academy. Series B, Physical and biological sciences · 2020Review
- Metabolic perturbations caused by depletion of nephronophthisis factor Anks6 in mIMCD3 cells.Metabolomics : Official journal of the Metabolomic Society · 2019Article
- Cilia-localized LKB1 regulates chemokine signaling, macrophage recruitment, and tissue homeostasis in the kidney.The EMBO journal · 2018Article
- Metabolic Phenotyping of Anks3 Depletion in mIMCD-3 cells - a Putative Nephronophthisis Candidate.Scientific reports · 2018Article
- Crystal Structure of Bicc1 SAM Polymer and Mapping of Interactions between the Ciliopathy-Associated Proteins Bicc1, ANKS3, and ANKS6.Structure (London, England : 1993) · 2018Article
- Role of primary cilia in non-dividing and post-mitotic cells.Cell and tissue research · 2017Review
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Authors and funding
5 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Laterality defects are heterogeneous groups of congenital malformations that arise from perturbed asymmetrical development of visceral organs. The central role of the motile cilia-generated nodal flow in breaking early embryonic symmetry is reflected in the large contribution of ciliary genes to the etiology of these disorders. In a consanguineous multiplex family with a laterality defect that resembles situs inversus totalis, and complex congenital heart disease, we combined autozygome and exome analysis to identify a novel homozygous variant in ANKS3. ANKS3 encodes a recently described ciliary protein with known interaction with other ciliary proteins, and deficiency of its zebrafish ortholog causes laterality defects. Consistent with the proposed role of the ANKS3 variant in the pathogenesis of the reported family's phenotype, we show that the mutant RNA failed to rescue the laterality defect in anks3 morphants compared to wild-type RNA. Furthermore, we describe a new mutant anks3 line that also displays laterality defect in the homozygous state. Our study suggests a role for ANKS3 in right-left axis determination in humans.
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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.