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A Deep Intronic Splice Variant in COL1A1 Causing Osteogenesis Imperfecta Type II.
Am J Med Genet A
December 2024
Department of Internal Medicine, Amsterdam University Medical Center, Amsterdam, The Netherlands.
Osteogenesis imperfecta (OI) is a rare disease, hallmarked by bone fragility, multiple fractures, and deformities, and is commonly caused by pathogenic variants in the genes encoding type I collagen. Type II OI is the most severe form and is lethal in the perinatal period. Here, we report recurrence of perinatal lethal OI in two fetuses due to parental mosaicism for a deep intronic pathogenic variant at c.
View Article and Find Full Text PDFThe impact of obesity on sleep, pulmonary and chest wall restriction in Osteogenesis Imperfecta: a pilot study.
Orphanet J Rare Dis
December 2024
Dipartimento di Elettronica, Informazione e Bioingegneria, Politecnico di Milano, Piazza Leonardo da Vinci, 20133, Milan, Italy.
Introduction: Osteogenesis Imperfecta (OI) is characterised by brittle bones, severe skeletal deformities, low sleep quality, and restricted breathing. We aimed to distinguish how disease and obesity affect these results.
Methods: According to BMI, we considered four groups of peer adults (median age: 35.
GraphLOGIC: Lethality prediction of osteogenesis imperfecta on type I collagen by a mechanics-informed graph neural network.
Int J Biol Macromol
December 2024
Department of Civil Engineering, National Taiwan University, Taipei 106, Taiwan; Department of Biomedical Engineering, National Taiwan University, Taipei 106, Taiwan. Electronic address:
Collagen plays a crucial role in human bodies and has a significant presence in connective tissues. As such, the impact of collagen mutations can be devastating. Osteogenesis imperfecta (OI), a rare genetic disease affecting 1 in every 15,000 to 20,000 people, is one such example characterized by brittle bones.
View Article and Find Full Text PDFA novel chemical chaperone ameliorates osteoblast homeostasis and extracellular matrix in osteogenesis imperfecta.
Life Sci
December 2024
Department of Molecular Medicine, Biochemistry Unit, University of Pavia, Pavia, Italy. Electronic address:
Aims: Osteogenesis imperfecta (OI) is a collagen I-related heritable family of skeletal diseases associated to extreme bone fragility and deformity. Its classical forms are caused by dominant mutations in COL1A1 and COL1A2, which encode for the protein α chains, and are characterized by impairment in collagen I structure, folding, and secretion. Mutant collagen I assembles in an altered extracellular matrix affecting mineralization and bone properties and partially accumulating inside the cells, leading to impaired trafficking and cellular stress.
View Article and Find Full Text PDFTrabecular bone scores in children with osteogenesis imperfecta respond differently to bisphosphonate treatment depending on disease severity.
Front Pediatr
December 2024
Department of Pediatrics, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama, Japan.
Introduction: Osteogenesis imperfecta (OI) is a congenital skeletal disorder characterized by bone fragility. Bisphosphonates (BISs) have become the mainstream treatment in children with OI. However, an optimal treatment protocol has not yet been established, while BIS treatment tends to be administered to normalize bone mineral density (BMD).
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