Associated Papers
Genetically inspired organoids prevent joint degeneration and alleviate chondrocyte senescence via Col11a1-HIF1α-mediated glycolysis-OXPHOS metabolism shift.
Sun Y et al.
Clinical and Translational Medicine, 2024
Splice-altering variant in COL11A1 as a cause of nonsyndromic hearing loss DFNA37.
Booth KT et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Clinical and molecular analysis of UAE fibrochondrogenesis patients expands the phenotype and reveals two COL11A1 homozygous null mutations.
Akawi NA et al.
Clinical Genetics, 2012
A recessive form of Marshall syndrome is caused by a mutation in the COL11A1 gene.
Khalifa O et al.
Journal of Medical Genetics, 2012
Fibrochondrogenesis results from mutations in the COL11A1 type XI collagen gene.
Tompson SW et al.
American Journal of Human Genetics, 2010
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