Evidence map›Paper›PMID 33382518›Full record

ArticleHuman mutation2021

Mutations in KIF7 implicated in idiopathic scoliosis in humans and axial curvatures in zebrafish.

Elizabeth A Terhune, Melissa T Cuevas, Anna M Monley, Cambria I Wethey, Xiaomi Chen, Maria V Cattell, Melisa N Bayrak, Morgan R Bland, Brittan Sutphin, George Devon Trahan and 10 more

Open access · greenAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Human mutation, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.

0numbers the graph read from it
0cells of the map it votes in
21citing papers in PubMed
1.5field-weighted citation impact, top 17% of its field
1 · What the graph read from it

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.

2 · The registry

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.

3 · Its place in the literature

Who cites it

21 citing papers in PubMed, 29 citations in OpenAlex.

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  14. Zebrafish: an important model for understanding scoliosis.Cellular and molecular life sciences : CMLS · 2022
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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

20 authors at 5 institutions in 1 country.

Elizabeth A TerhuneDepartment of Orthopedics, University of Colorado Anschutz Medical Campus, Aurora, Colorado, USA.
Melissa T CuevasDepartment of Orthopedics, University of Colorado Anschutz Medical Campus, Aurora, Colorado, USA.
Anna M MonleyDepartment of Orthopedics, University of Colorado Anschutz Medical Campus, Aurora, Colorado, USA.ORCID 0000-0002-1287-6275
Cambria I WetheyDepartment of Orthopedics, University of Colorado Anschutz Medical Campus, Aurora, Colorado, USA.
Xiaomi ChenDepartment of Orthopedics, University of Colorado Anschutz Medical Campus, Aurora, Colorado, USA.
Maria V CattellDepartment of Orthopedics, University of Colorado Anschutz Medical Campus, Aurora, Colorado, USA.
Melisa N BayrakDepartment of Nutritional Sciences, Dell Pediatrics Research Institute, The University of Texas at Austin, Austin, Texas, USA.
Morgan R BlandDepartment of Orthopedics, University of Colorado Anschutz Medical Campus, Aurora, Colorado, USA.
Brittan SutphinDepartment of Orthopedics, University of Colorado Anschutz Medical Campus, Aurora, Colorado, USA.
George Devon TrahanDepartment of Pediatrics, University of Colorado Anschutz Medical Campus, Aurora, Colorado, USA.
Matthew R G TaylorDepartment of Cardiology, University of Colorado Anschutz Medical Campus, Aurora, Colorado, USA.
Lee A NiswanderDepartment of Pediatrics, University of Colorado Anschutz Medical Campus, Aurora, Colorado, USA.
Kenneth L JonesDepartment of Pediatrics, University of Colorado Anschutz Medical Campus, Aurora, Colorado, USA.
Erin E BaschalDepartment of Orthopedics, University of Colorado Anschutz Medical Campus, Aurora, Colorado, USA.ORCID 0000-0002-8936-434X
Lilian AntunesDepartment of Orthopedics, Washington University School of Medicine, St. Louis, Missouri, USA.
Matthew DobbsDepartment of Orthopedics, Washington University School of Medicine, St. Louis, Missouri, USA.
Christina GurnettDepartment of Neurology, Washington University School of Medicine, St. Louis, Missouri, USA.
Bruce AppelDepartment of Molecular, Cellular and Developmental Biology, University of Colorado Boulder, Boulder, Colorado, USA.
Ryan GrayDepartment of Nutritional Sciences, Dell Pediatrics Research Institute, The University of Texas at Austin, Austin, Texas, USA.ORCID 0000-0001-9668-6497
Nancy Hadley MillerDepartment of Orthopedics, University of Colorado Anschutz Medical Campus, Aurora, Colorado, USA.ORCID 0000-0002-8107-3943
University of Colorado Anschutz Medical Campus · USWashington University in St. Louis · USChildren's Hospital Colorado · USThe University of Texas at Austin · USUniversity of Colorado Boulder · US

Funding

NIH Prior Approval Process ProfessionalUL1TR002535 · NCATS · UNIVERSITY OF COLORADO DENVER · PI SOKOL, RONALD J. · 2018 to 2022
$51.1M
Genetic Risk Factors for Severe ScoliosisR01AR067715 · NIAMS · WASHINGTON UNIVERSITY · PI DOBBS, MATTHEW BARRETT, GURNETT, CHRISTINA · 2015 to 2024
$6.0M
Institutional Career Development CoreKL2TR002534 · NCATS · UNIVERSITY OF COLORADO DENVER · PI BURNHAM, ELLEN L · 2018 to 2022
$4.6M
Towards a Mechanistic Undestanding of Adolscent Idiopathic ScoliosisR01AR072009 · NIAMS · UNIVERSITY OF TEXAS AT AUSTIN · PI Ryan Scott Gray · 2017 to 2026
$3.9M
NRSA Training CoreTL1TR002533 · NCATS · UNIVERSITY OF COLORADO DENVER · PI CICUTTO, LISA · 2018 to 2022
$3.0M
Familial idiopathic scoliosis: gene discovery and functional studiesR01AR068292 · NIAMS · UNIVERSITY OF COLORADO DENVER · PI HADLEY-MILLER, NANCY · 2015 to 2019
$1.7M
NCATS NIH HHS KL2 TR002534NCATS NIH HHS TL1 TR002533NCATS NIH HHS UL1 TR002535NIAMS NIH HHS R01 AR067715NIAMS NIH HHS R01 AR068292NIAMS NIH HHS R01AR068292NIAMS NIH HHS R01 AR072009
6 · The paper itself

Abstract

Idiopathic scoliosis (IS) is a spinal disorder affecting up to 3% of otherwise healthy children. IS has a strong familial genetic component and is believed to be genetically complex due to significant variability in phenotype and heritability. Previous studies identified putative loci and variants possibly contributing to IS susceptibility, including within extracellular matrix, cilia, and actin networks, but the genetic architecture and underlying mechanisms remain unresolved. Here, we used whole-exome sequencing from three affected individuals in a multigenerational family with IS and identified 19 uncommon variants (minor allele frequency < 0.05). Genotyping of additional family members identified a candidate heterozygous variant (H1115Q, G>C, rs142032413) within the ciliary gene KIF7, a regulator within the hedgehog (Hh) signaling pathway. Resequencing of the second cohort of unrelated IS individuals and controls identified several severe mutations in KIF7 in affected individuals only. Subsequently, we generated a mutant zebrafish model of kif7 using CRISPR-Cas9. kif7

Indexed as

KinesinsScoliosisZebrafishAnimalsCiliaHumansMutationZebrafish ProteinsKIF7 protein, humanKif7 protein, zebrafishKinesinsZebrafish Proteinsexome sequencinggenetic variantsidiopathic scoliosisKIF7zebrafish

Identifiers

PMID33382518
PMCPMC8049985
OpenAlexW3116617220

What OpenQuestion holds

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Registered trials

None linked

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.