ArticleAmerican journal of human genetics2011
Recurrent dominant mutations affecting two adjacent residues in the motor domain of the monomeric kinesin KIF22 result in skeletal dysplasia and joint laxity.
Article in American journal of human genetics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 21 papers.
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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.
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Who cites it
21 citing papers in PubMed, 34 citations in OpenAlex.
- Novel KIF22 Variants Disrupt Mitosis in Human Chondrocytes and Expand SEMDJL2 Mechanisms.bioRxiv : the preprint server for biology · 2026Article
- Involvement of kinesins in skeletal dysplasia: a review.American journal of physiology. Cell physiology · 2024Review
- Article
- Dominant negative variants in KIF5B cause osteogenesis imperfecta via down regulation of mTOR signaling.PLoS genetics · 2023Article
- Biallelic KIF24 Variants Are Responsible for a Spectrum of Skeletal Disorders Ranging From Lethal Skeletal Ciliopathy to Severe Acromesomelic Dysplasia.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2022Article
- Pathogenic mutations in the chromokinesin KIF22 disrupt anaphase chromosome segregation.eLife · 2022Article
- ALS-associated KIF5A mutations abolish autoinhibition resulting in a toxic gain of function.Cell reports · 2022Article
- Theobroma cacao improves bone growth by modulating defective ciliogenesis in a mouse model of achondroplasia.Bone research · 2022Article
- KIF5B modulates central spindle organization in late-stage cytokinesis in chondrocytes.Cell & bioscience · 2019Article
- Spondyloepimetaphysial Dysplasia with Joint Laxity in Three Siblings withMolecular syndromology · 2017Article
- A novel multiple joint dislocation syndrome associated with a homozygous nonsense variant in the EXOC6B gene.European journal of human genetics : EJHG · 2016Article
- Genome-wide association reveals QTL for growth, bone and in vivo carcass traits as assessed by computed tomography in Scottish Blackface lambs.Genetics, selection, evolution : GSE · 2016Article
- Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type: longitudinal observation of radiographic findings in a child heterozygous for a KIF22 mutation.Pediatric radiology · 2015Observational
- A somatic MAP3K3 mutation is associated with verrucous venous malformation.American journal of human genetics · 2015Article
- Advances in Skeletal Dysplasia Genetics.Annual review of genomics and human genetics · 2015Review
- Human CFEOM1 mutations attenuate KIF21A autoinhibition and cause oculomotor axon stalling.Neuron · 2014Article
- Exome sequencing greatly expedites the progressive research of Mendelian diseases.Frontiers of medicine · 2014Review
- Next-generation sequencing: a frameshift in skeletal dysplasia gene discovery.Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA · 2014Review
- Paroxysmal kinesigenic dyskinesia caused by 16p11.2 microdeletion.Tremor and other hyperkinetic movements (New York, N.Y.) · 2014Article
- Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disorders.American journal of human genetics · 2013Article
Corrections and comments
- Erratum issuedTanackovich, Goranka [corrected to Tanackovic, Goranka]
Authors and funding
32 authors at 20 institutions in 11 countries.
Funding
Abstract
Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type (lepto-SEMDJL, aka SEMDJL, Hall type), is an autosomal dominant skeletal disorder that, in spite of being relatively common among skeletal dysplasias, has eluded molecular elucidation so far. We used whole-exome sequencing of five unrelated individuals with lepto-SEMDJL to identify mutations in KIF22 as the cause of this skeletal condition. Missense mutations affecting one of two adjacent amino acids in the motor domain of KIF22 were present in 20 familial cases from eight families and in 12 other sporadic cases. The skeletal and connective tissue phenotype produced by these specific mutations point to functions of KIF22 beyond those previously ascribed functions involving chromosome segregation. Although we have found Kif22 to be strongly upregulated at the growth plate, the precise pathogenetic mechanisms remain to be elucidated.
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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.