ArticleG3 (Bethesda, Md.)2018
Idiopathic Scoliosis Families Highlight Actin-Based and Microtubule-Based Cellular Projections and Extracellular Matrix in Disease Etiology.
Article in G3 (Bethesda, Md.), 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 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.
The trial behind it
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Who cites it
15 citing papers in PubMed, 24 citations in OpenAlex.
- The role of cilia during organogenesis in zebrafish.Open biology · 2023Review
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- Article
- Knowledge mapping of idiopathic scoliosis genes and research hotspots (2002-2022): a bibliometric analysis.Frontiers in pediatrics · 2023Review
- Resolving primary pathomechanisms driving idiopathic-like spinal curvature using a newiScience · 2022Article
- Genetic variants associated with the occurrence and progression of adolescent idiopathic scoliosis: a systematic review protocol.Systematic reviews · 2022Article
- Altered mechanotransduction in adolescent idiopathic scoliosis osteoblasts: an exploratory in vitro study.Scientific reports · 2022Article
- The axonemal dynein heavy chain 10 gene is essential for monocilia motility and spine alignment in zebrafish.Developmental biology · 2022Article
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- Article
- The orthopedic characterization of cfap298Scientific reports · 2021Article
- Mutations in KIF7 implicated in idiopathic scoliosis in humans and axial curvatures in zebrafish.Human mutation · 2021Article
- Exome sequencing analysis identifies frequent oligogenic involvement andJournal of medical genetics · 2020Article
- Coding Variants Coupled With Rapid Modeling in Zebrafish Implicate Dynein Genes,Frontiers in cell and developmental biology · 2020Article
- The cartilage matrisome in adolescent idiopathic scoliosis.Bone research · 2020Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
14 authors at 3 institutions in 1 country.
Funding
Abstract
Idiopathic scoliosis (IS) is a structural lateral spinal curvature of ≥10° that affects up to 3% of otherwise healthy children and can lead to life-long problems in severe cases. It is well-established that IS is a genetic disorder. Previous studies have identified genes that may contribute to the IS phenotype, but the overall genetic etiology of IS is not well understood. We used exome sequencing to study five multigenerational families with IS. Bioinformatic analyses identified unique and low frequency variants (minor allele frequency ≤5%) that were present in all sequenced members of the family. Across the five families, we identified a total of 270 variants with predicted functional consequences in 246 genes, and found that eight genes were shared by two families. We performed GO term enrichment analyses, with the hypothesis that certain functional annotations or pathways would be enriched in the 246 genes identified in our IS families. Using three complementary programs to complete these analyses, we identified enriched categories that include stereocilia and other actin-based cellular projections, cilia and other microtubule-based cellular projections, and the extracellular matrix (ECM). Our results suggest that there are multiple paths to IS and provide a foundation for future studies of IS pathogenesis.
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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.