ArticleScientific reports2017
Analysis of Craniocardiac Malformations in Xenopus using Optical Coherence Tomography.
Article in Scientific reports, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
21 citing papers in PubMed, 30 citations in OpenAlex.
- Identification and Characterization of Static Craniofacial Defects in Pre-MetamorphicJournal of developmental biology · 2025Article
- Novel Variants in VARS2 Demonstrate the Phenotypic Variability of a Rare Mitochondriopathy That Responds to Valine Supplementation.Journal of inherited metabolic disease · 2025Article
- Multiscale and recursive unmixing of spatiotemporal rhythms for live-cell and intravital cardiac microscopy.Nature cardiovascular research · 2025Article
- Review
- CC2D1A causes ciliopathy, intellectual disability, heterotaxy, renal dysplasia, and abnormal CSF flow.Life science alliance · 2024Article
- Modelling human genetic disorders in Xenopus tropicalis.Disease models & mechanisms · 2024Review
- CFAP45, a heterotaxy and congenital heart disease gene, affects cilia stability.Developmental biology · 2023Article
- Pleiotropic role of TRAF7 in skull-base meningiomas and congenital heart disease.Proceedings of the National Academy of Sciences of the United States of America · 2023Article
- Open-source, highly efficient, post-acquisition synchronization for 4D dual-contrast imaging of the mouse embryonic heart over development with optical coherence tomography.Biomedical optics express · 2023Article
- Article
- Xenopus as a platform for discovery of genes relevant to human disease.Current topics in developmental biology · 2021Review
- Paired Box 9 (PAX9), the RNA polymerase II transcription factor, regulates human ribosome biogenesis and craniofacial development.PLoS genetics · 2020Article
- Disrupted ER membrane protein complex-mediated topogenesis drives congenital neural crest defects.The Journal of clinical investigation · 2020Article
- Visualizing flow in an intact CSF network using optical coherence tomography: implications for human congenital hydrocephalus.Scientific reports · 2019Article
- The Many Faces ofFrontiers in physiology · 2019Article
- Quantitative Phenotyping ofFrontiers in physiology · 2019Article
- Review
- Wolf-Hirschhorn Syndrome-Associated Genes Are Enriched in Motile Neural Crest Cells and Affect Craniofacial Development inFrontiers in physiology · 2019Article
- Article
- Functional Assays to Screen and Dissect Genomic Hits: Doubling Down on the National Investment in Genomic Research.Circulation. Genomic and precision medicine · 2018Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors at 2 institutions in 2 countries.
Funding
Abstract
Birth defects affect 3% of children in the United States. Among the birth defects, congenital heart disease and craniofacial malformations are major causes of mortality and morbidity. Unfortunately, the genetic mechanisms underlying craniocardiac malformations remain largely uncharacterized. To address this, human genomic studies are identifying sequence variations in patients, resulting in numerous candidate genes. However, the molecular mechanisms of pathogenesis for most candidate genes are unknown. Therefore, there is a need for functional analyses in rapid and efficient animal models of human disease. Here, we coupled the frog Xenopus tropicalis with Optical Coherence Tomography (OCT) to create a fast and efficient system for testing craniocardiac candidate genes. OCT can image cross-sections of microscopic structures in vivo at resolutions approaching histology. Here, we identify optimal OCT imaging planes to visualize and quantitate Xenopus heart and facial structures establishing normative data. Next we evaluate known human congenital heart diseases: cardiomyopathy and heterotaxy. Finally, we examine craniofacial defects by a known human teratogen, cyclopamine. We recapitulate human phenotypes readily and quantify the functional and structural defects. Using this approach, we can quickly test human craniocardiac candidate genes for phenocopy as a critical first step towards understanding disease mechanisms of the candidate genes.
Indexed as
Identifiers
What OpenQuestion holds
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.