COL1A1 gene
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چکیده
A particular mutation in the COL1A1 gene causes infantile cortical hyperostosis, commonly known as Caffey disease. The signs and symptoms of Caffey disease are usually apparent by the time an infant is 5 months old. This condition is characterized by swelling of soft tissues (muscles, for example), pain, and excessive new bone formation (hyperostosis). The bone abnormalities mainly affect the jawbone, collarbones (clavicles), and the shafts (diaphyses) of long bones in the arms and legs. For unknown reasons, the pain and swelling associated with Caffey disease typically go away within a few months. Through a normal process called bone remodeling, which replaces old bone tissue with new bone, the excess bone is usually reabsorbed by the body and undetectable on x-ray images by the age of 2.
منابع مشابه
Next-Generation Sequencing Reveals One Novel Missense Mutation in COL1A2 Gene in an Iranian Family with Osteogenesis imperfecta
Background: Osteogenesis imperfecta (OI) is a clinically and genetically heterogeneous disorder characterized by bone loss and bone fragility. The aim of this study was to investigate the variants of three genes involved in the pathogenesis of OI. Methods: Molecular genetic analyses were performed for COL1A1, COL1A2, and CRTAP genes in an Iranian family with OI. The DNA samples were analyzed by...
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We have studied the role of DNA methylation in repression of the murine alpha 1 type I collagen (COL1A1) gene in Mov13 fibroblasts. In Mov13 mice, a retroviral provirus has inserted into the first intron of the COL1A1 gene and blocks its expression at the level of transcriptional initiation. We found that regulatory sequences in the COL1A1 promoter region that are involved in the tissue-specifi...
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Fusion of the collagen type I a 1 (COL1A1) gene with the platelet-derived growth factor B-chain (PDGFB) gene has been pointed out in dermatofibrosarcoma protuberans. Various exons of the COL1A1 gene have been shown to be involved in the fusion with exon 2 of the PDGFB gene. We studied the breakpoints of the COL1A1 gene using formalin-fixed, paraffin-embedded tumour specimens from five patients ...
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