ArticleAmerican journal of human genetics2015
Genetic Defects in TAPT1 Disrupt Ciliogenesis and Cause a Complex Lethal Osteochondrodysplasia.
Article in American journal of human genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers, 1 of them a synthesis that pooled it.
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Who cites it
33 citing papers in PubMed, 1 synthesis or guideline pooled it, 49 citations in OpenAlex.
- Mapping the Diverse Genetic Disorders and Rare Diseases Among the Syrian Population: Implications on Refugee Health and Health Services in Host Countries.Journal of immigrant and minority health · 2020Pooled it
- Mining of important genetic loci and evaluation of genetic effects for growth traits in Baicheng You Chicken.Poultry science · 2026Article
- Genome-wide association study dissection of candidate genes for fleece traits in Inner Mongolia cashmere goats based on whole-genome resequencing data.Animal bioscience · 2026Article
- Spatial transcriptomics for gene discovery identifiesbioRxiv : the preprint server for biology · 2026Article
- TAPT1 interacts with SUCO to maintain the homeostasis of newly synthesized proteins and brain development in mice.Proceedings of the National Academy of Sciences of the United States of America · 2025Article
- Leveraging genome-wide association analyses with chip and imputed data emerges potential pleiotropic region for four duck growth traits.Scientific reports · 2025Article
- Article
- Unraveling the DNA methylation landscape in dog blood across breeds.BMC genomics · 2024Article
- Plasmodium SEY1 is a novel druggable target that contributes to imidazolopiperazine mechanism of action.Research square · 2024Article
- Genome-wide association study for bone quality of ducks during the laying period.Poultry science · 2024Article
- Evaluation of genetic differentiation and search for candidate genes for reproductive traits in pigs.Animal bioscience · 2024Article
- Skeletal ciliopathy: pathogenesis and related signaling pathways.Molecular and cellular biochemistry · 2024Review
- Dominant negative variants in KIF5B cause osteogenesis imperfecta via down regulation of mTOR signaling.PLoS genetics · 2023Article
- TAPT1-at the crossroads of extracellular matrix and signaling in Osteogenesis imperfecta.EMBO molecular medicine · 2023Article
- A tapt1 knock-out zebrafish line with aberrant lens development and impaired vision models human early-onset cataract.Human genetics · 2023Article
- A progeroid syndrome caused by a deep intronic variant in TAPT1 is revealed by RNA/SI-NET sequencing.EMBO molecular medicine · 2023Article
- Golgi Dysfunctions in Ciliopathies.Cells · 2022Review
- Identification of Key Candidate Genes for Beak Length Phenotype by Whole-Genome Resequencing in Geese.Frontiers in veterinary science · 2022Article
- Runx1 protects against the pathological progression of osteoarthritis.Bone research · 2021Article
- Clinical and genetic heterogeneity of primary ciliopathies (Review).International journal of molecular medicine · 2021Review
Corrections and comments
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Authors and funding
20 authors at 4 institutions in 3 countries.
Funding
Abstract
The evolutionarily conserved transmembrane anterior posterior transformation 1 protein, encoded by TAPT1, is involved in murine axial skeletal patterning, but its cellular function remains unknown. Our study demonstrates that TAPT1 mutations underlie a complex congenital syndrome, showing clinical overlap between lethal skeletal dysplasias and ciliopathies. This syndrome is characterized by fetal lethality, severe hypomineralization of the entire skeleton and intra-uterine fractures, and multiple congenital developmental anomalies affecting the brain, lungs, and kidneys. We establish that wild-type TAPT1 localizes to the centrosome and/or ciliary basal body, whereas defective TAPT1 mislocalizes to the cytoplasm and disrupts Golgi morphology and trafficking and normal primary cilium formation. Knockdown of tapt1b in zebrafish induces severe craniofacial cartilage malformations and delayed ossification, which is shown to be associated with aberrant differentiation of cranial neural crest cells.
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