Associated Papers
Involvement of kinesins in skeletal dysplasia: a review.
Bouchenafa R et al.
American Journal of Physiology. Cell Physiology, 2024
KIF22 regulates mitosis and proliferation of chondrocyte cells.
Kawaue H et al.
Iscience, 2024
Identification of kinesin family member (KIF22) homozygous variants in spondyloepimetaphyseal dysplasia with joint laxity, lepdodactylic type and demonstration of proteoglycan biosynthesis impairment.
Dubail J et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2024
Impact of deep phenotyping: high diagnostic yield in a diverse pediatric population of 172 patients through clinical whole-genome sequencing at a single center.
Akgun-Dogan O et al.
Frontiers in Genetics, 2024
38560291 (PubMed )
Supplement: Table2.XLSX › Sheet1
Spondyloepimetaphyseal dysplasia with joint laxity type 2: Aggregating the literature and reporting on the life of a 66-year-old man.
Beke A et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2023
Pathogenic mutations in the chromokinesin KIF22 disrupt anaphase chromosome segregation.
Thompson AF et al.
Elife, 2022
Forty-five patient-derived xenografts capture the clinical and biological heterogeneity of Wilms tumor.
Murphy AJ et al.
Nature Communications, 2019
31862972 (PubMed )
Supplement: 41467_2019_13646_MOESM6_ESM.xlsx › WES_SNV
Genetic Evaluation of 114 Chinese Short Stature Children in the Next Generation Era: a Single Center Study.
Huang Z et al.
Cellular Physiology and Biochemistry : International Journal of Experimental Cellular Physiology, Biochemistry, and Pharmacology, 2018
Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type: longitudinal observation of radiographic findings in a child heterozygous for a KIF22 mutation.
Tüysüz B et al.
Pediatric Radiology, 2015
Whole-exome sequencing identifies mutations of KIF22 in spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type.
Min BJ et al.
American Journal of Human Genetics, 2011
Recurrent dominant mutations affecting two adjacent residues in the motor domain of the monomeric kinesin KIF22 result in skeletal dysplasia and joint laxity.
Boyden ED et al.
American Journal of Human Genetics, 2011
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