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Objective: To detect potential mutation of COL2A1 gene in two children suspected for Kniest dysplasia.
Methods: The 54 exons and splicing regions of the COL2A1 gene were amplified with PCR and the product was subjected to direct sequencing.
Results: A missense mutation (c.905C>T, p.Ala302Val) was found in the coding region of the COL2A1 gene, which has been previously reported in abroad. The patients appeared to have short trunk dwarfism, enlarged joints and midface hypoplasia.
Conclusion: The probands are the first cases of Kniest dysplasia described in China, and so was the p.Ala302Val mutation.
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http://dx.doi.org/10.3760/cma.j.issn.1003-9406.2015.03.004 | DOI Listing |
Int Immunopharmacol
March 2025
Department of Sports Medicine, The First Affiliated Hospital, Kunming Medical University, Kunming 650032, Yunnan, China. Electronic address:
Background: Osteoarthritis (OA) is a common joint disease with an incompletely understood pathogenesis. SDF-1, a key factor in cartilage matrix degradation, is involved in OA cartilage degeneration, yet its mechanism, especially regarding ferroptosis, remains unclear. This study focuses on elucidating the role of SDF-1-induced chondrocyte ferroptosis and the IL6/HIF-1α signalling axis in OA.
View Article and Find Full Text PDFSci Rep
March 2025
Department of Regenerative Medicine, Innovative medicine centre, Santariskiu g. 5, Vilnius, LT-08406, Lithuania.
The aim of the present study was to elucidate the utility of Mesenchymal Stem Cell Antigen-1 (MSCA1) (tissue nonspecific alkaline phosphatase (TNAP)) as a potential marker for purification of human chondrocyte fraction with less heterogenous phenotype from those with osteogenic properties. Chondrocytes were isolated from human osteoarthritis cartilage and sorted according to MSCA1 expression by MACS (Magnetic-activated cell sorting) and FACS (Fluorescence-activated cell sorting) techniques (MSCA1 and MSCA1), analyzed for gene expression, osteogenic and adipogenic differentiation capacities, and were compared between the sorted populations. Gene expression analyses revealed upregulation in osteogenic genes (ALPL and RUNX2) and significantly lower expression of chondrocyte-specific genes (COL2A1, SOX9 and MIA) in sorted MSCA1, as compared to MSCA1.
View Article and Find Full Text PDFActa Obstet Gynecol Scand
March 2025
Department of Medical Genetics, Changzhou Maternal and Child Health Care Hospital, Changzhou Medical Center of Nanjing Medical University, Changzhou, Jiangsu, China.
Introduction: Genetic factors are considered to be the main factors leading to fetal skeletal dysplasia (SD), and chromosomal microarray analysis (CMA) has been used clinically for the detection of SD fetuses. At present, whole exome sequencing (WES) has been applied in SD fetuses, but there is still a lack of data accumulation. The aim of this study is to perform sequential prenatal diagnosis for fetuses with SD indicated by ultrasound and to explore the clinical value of CMA followed by WES.
View Article and Find Full Text PDFCell Mol Life Sci
March 2025
School of Biomedical Sciences, Faculty of Medicine, The Chinese University of Hong Kong, Shatin, Hong Kong SAR, China.
Campomelic Dysplasia (CD) is a rare congenital disease caused by haploinsufficiency (HI) in SOX9. Patients with CD typically present with skeletal abnormalities and 75% of them have sex reversal. In this study, we use CRISPR/Cas9 to generate a human induced pluripotent stem cell (hiPSC) model from a heathy male donor, based on a previously reported SOX9 splice site mutation in a CD patients.
View Article and Find Full Text PDFOsteoarthritis Cartilage
February 2025
Shanghai Key Laboratory of Orthopedic Implants, Department of Orthopedic Surgery, Shanghai Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China. Electronic address:
Objective: Abnormal mechanical stress is a key factor in osteoarthritis (OA) pathogenesis. This study aims to investigate the role of the mechanosensitive ion channel Piezo1 in activating the cyclic GMP-AMP synthase (cGAS)-stimulator of interferon genes (STING) pathway and its contribution to cartilage degradation in OA.
Methods: We conducted both in vivo and in vitro experiments.
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