Spondyloepimetaphyseal Dysplasia Joint Laxity Latest Advances
Find the Latest Research About Spondyloepimetaphyseal Dysplasia Joint Laxity
Last Updated: 06/30/2026
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Found 56 publications
Novel KIF22 Variants Disrupt Mitosis in Human Chondrocytes and Expand SEMDJL2 Mechanisms.
Journal: Molecular biology of the cell
Published: June 17, 2026
Novel KIF22 Variants Disrupt Mitosis in Human Chondrocytes and Expand SEMDJL2 Mechanisms.
Journal: bioRxiv : the preprint server for biology
Published: April 10, 2026
Novel KIF22 Variants Disrupt Mitosis in Human Chondrocytes and Expand SEMDJL2 Mechanisms.
Journal: bioRxiv : the preprint server for biology
Published: April 10, 2026
EXOC6B promotes cilial elongation via autophagy-dependent protein turnover.
Journal: Biochemical and biophysical research communications
Published: January 24, 2026
From wheelchair to walking: first reported case in Saudi Arabia of transformative orthopedic surgery in a patient with spondyloepimetaphyseal dysplasia with joint laxity type 3 due to EXOC6B mutation-a case report.
Journal: Journal of medical case reports
Published: August 19, 2025
Cerebellar infarction due to atlantoaxial subluxation in spondyloepimetaphyseal dysplasia-joint laxity type 1 case.
Journal: Clinical dysmorphology
Published: January 14, 2025
Identification of kinesin family member (KIF22) homozygous variants in spondyloepimetaphyseal dysplasia with joint laxity, lepdodactylic type and demonstration of proteoglycan biosynthesis impairment.
Journal: Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research
Published: September 15, 2023
KIF22 regulates mitosis and proliferation of chondrocyte cells.
Journal: iScience
Published: September 04, 2023
Two families with spondylo-epi-metaphyseal dysplasia due to compound heterozygocity in the vWFA domain of MATN3.
Journal: European journal of medical genetics
Published: July 04, 2023
Early insights into the role of Exoc6B associated with spondyloepimetaphyseal dysplasia with joint laxity type 3 in primary ciliogenesis and chondrogenic differentiation in vitro.
Journal: Molecular biology reports
Published: May 15, 2023
Spondyloepimetaphyseal dysplasia with joint laxity type 2: Aggregating the literature and reporting on the life of a 66-year-old man.
Journal: American journal of medical genetics. Part C, Seminars in medical genetics
Published: May 10, 2023
New genetic mutations in a Chinese child with Ehlers-Danlos syndrome-like spondyloepimetaphyseal dysplasia: A case report.
Journal: Frontiers in pediatrics
Published: October 18, 2022
Last Updated: 06/30/2026