{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Kerr BA"],"funding":["NHLBI NIH HHS","National Heart, Lung, and Blood Institute","National Cancer Institute","NCI NIH HHS"],"pagination":["112456"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC7874523"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["399(2)"],"pubmed_abstract":["Identifying patient mutations driving skeletal development disorders has driven our understanding of bone development. Integrin adhesion deficiency disease is caused by a Kindlin-3 (fermitin family member 3) mutation, and its inactivation results in bleeding disorders and osteopenia. In this study, we uncover a role for Kindlin-3 in the differentiation of bone marrow mesenchymal stem cells (BMSCs) down the chondrogenic lineage. Kindlin-3 expression increased with chondrogenic differentiation, similar to RUNX2. BMSCs isolated from a Kindlin-3 deficient patient expressed chondrocyte markers, including SOX9, under basal conditions, which were further enhanced with chondrogenic differentiation. Rescue of integrin activation by a constitutively activated β<sub>3</sub> integrin construct increas"],"journal":["Experimental cell research"],"pubmed_title":["Kindlin-3 mutation in mesenchymal stem cells results in enhanced chondrogenesis."],"pmcid":["PMC7874523"],"funding_grant_id":["R01 HL142772","F32 CA142133","R01 HL071625","P01 HL073311","K99 CA175291"],"pubmed_authors":["Kerr BA","Shi L","Willey JS","Caplan AI","Harris KS","Byzova TV","Lennon DP","Jinnah AH"],"additional_accession":[]},"is_claimable":false,"name":"Kindlin-3 mutation in mesenchymal stem cells results in enhanced chondrogenesis.","description":"Identifying patient mutations driving skeletal development disorders has driven our understanding of bone development. Integrin adhesion deficiency disease is caused by a Kindlin-3 (fermitin family member 3) mutation, and its inactivation results in bleeding disorders and osteopenia. In this study, we uncover a role for Kindlin-3 in the differentiation of bone marrow mesenchymal stem cells (BMSCs) down the chondrogenic lineage. Kindlin-3 expression increased with chondrogenic differentiation, similar to RUNX2. BMSCs isolated from a Kindlin-3 deficient patient expressed chondrocyte markers, including SOX9, under basal conditions, which were further enhanced with chondrogenic differentiation. Rescue of integrin activation by a constitutively activated β<sub>3</sub> integrin construct increas","dates":{"release":"2021-01-01T00:00:00Z","publication":"2021 Feb","modification":"2025-04-03T23:32:22.956Z","creation":"2025-04-03T23:32:22.956Z"},"accession":"S-EPMC7874523","cross_references":{"pubmed":["33417921"],"doi":["10.1016/j.yexcr.2020.112456"]}}