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A functional polymorphism in the 5′ UTR of GDF5 is associated with susceptibility to osteoarthritis
It is suggested that decreased GDF5 expression is involved in the pathogenesis of osteoarthritis because of allelic differences on transcriptional activity in chondrogenic cells, with the susceptibility allele showing reduced activity.
Signalling mediated by the endoplasmic reticulum stress transducer OASIS is involved in bone formation
The studies show that OASIS is critical for bone formation through the transcription of Col1a1 and the secretion of bone matrix proteins, and they reveal a new mechanism by which ER stress-induced signalling mediates bone formation.
Identification of a novel non-coding RNA, MIAT, that confers risk of myocardial infarction
Results indicate that the altered expression of MIAT by the SNP may play some role in the pathogenesis of MI.
Regulation of endoplasmic reticulum stress response by a BBF2H7-mediated Sec23a pathway is essential for chondrogenesis
A new link by which ER stress is converted to signalling for the activation of ER-to-Golgi trafficking is provided, indicating that by activating protein secretion the BBF2H7–Sec23a pathway has a crucial role in chondrogenesis.
An aspartic acid repeat polymorphism in asporin inhibits chondrogenesis and increases susceptibility to osteoarthritis
Findings provide another functional link between extracellular matrix proteins, TGF-β activity and disease, suggesting new therapeutic strategies for osteoarthritis.
The combination of SOX5, SOX6, and SOX9 (the SOX trio) provides signals sufficient for induction of permanent cartilage.
Data suggest that the SOX trio provides signals sufficient for the induction of permanent cartilage, and contrary to the conventional chondrogenic techniques, the SoX trio suppressed hypertrophic and osteogenic differentiation at the same time.
Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia
A previously unknown mechanism, activation of a calcium-permeable TRP ion channel, in skeletal dysplasia pathogenesis is defined.
The phenotypic spectrum of COL2A1 mutations
To further elucidate the genotype‐phenotype relationship of type II collagenopathies, COL2A1 mutations were examined in 56 families that were suspected of havingtype II collagenopathy, and found 38 mutations in 41 families that fell along the SED spectrum.
Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases
It is demonstrated that even without prior biological knowledge of cross-phenotype relationships, genetics corresponding to clinical measurements successfully recapture those measurements’ relevance to diseases, and thus can contribute to the elucidation of unknown etiology and pathogenesis.
The Zinc Transporter SLC39A13/ZIP13 Is Required for Connective Tissue Development; Its Involvement in BMP/TGF-β Signaling Pathways
The results reveal a crucial role of SLC39A13/ZIP13 in connective tissue development at least in part due to its involvement in the BMP/TGF-β signaling pathways.