Autosomal Recessive Osteogenesis Imperfecta Caused by a Novel Homozygous COL1A2 Mutation
Sign Up to like & getrecommendations! Published in 2018 at "Calcified Tissue International"
DOI: 10.1007/s00223-018-0414-4
Abstract: Osteogenesis imperfecta (OI) is a skeletal dysplasia characterized by brittle bones and extraskeletal manifestations. The disease phenotype varies greatly. Most commonly, OI arises from monoallelic mutations in one of the two genes encoding type I… read more here.
Keywords: novel homozygous; col1a2; caused novel; osteogenesis imperfecta ... See more keywords
MiR‐1297 attenuates high glucose‐induced injury in HK‐2 cells via targeting COL1A2
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DOI: 10.1111/nep.13881
Abstract: In this study, we aimed to explore whether COL1A2 and miR‐1297 participated in the progression of diabetic nephropathy (DN) in vitro and classified the underlying mechanisms. read more here.
Keywords: col1a2; attenuates high; 1297 attenuates; col1a2 mir ... See more keywords
Influence of type I collagen polymorphisms and risk of anterior cruciate ligament rupture in athletes: a case-control study
Sign Up to like & getrecommendations! Published in 2022 at "BMC Musculoskeletal Disorders"
DOI: 10.1186/s12891-022-05105-2
Abstract: Background Anterior cruciate ligament (ACL) rupture is a common and severe knee injury in sports and occurs mostly due to noncontact injuries. There is an increasing amount of evidence associating ACL rupture to single nucleotide… read more here.
Keywords: acl rupture; risk; rupture; anterior cruciate ... See more keywords
Comprehensive analysis of endoplasmic reticulum-related and secretome gene expression profiles in the progression of non-alcoholic fatty liver disease
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DOI: 10.3389/fendo.2022.967016
Abstract: Endoplasmic reticulum (ER) is the principal organelle for protein synthesis, such as hepatokines and transmembrane proteins, and is critical for maintaining physiological function. Dysfunction of ER is associated with metabolic disorders. However, the role of… read more here.
Keywords: endoplasmic reticulum; progression; expression; analysis ... See more keywords
Regulation of COL1A2, AKT3 genes, and related signaling pathway in the pathology of congenital talipes equinovarus
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Pediatrics"
DOI: 10.3389/fped.2022.890109
Abstract: Congenital talipes equinovarus (CTEV) is one of the most common congenital limb defects in children, which is a multifactorial and complex disease that associates with many unknown genetic, social-demographic, and environmental risk factors. Emerging evidence… read more here.
Keywords: col1a2 akt3; signaling pathway; pathology; congenital talipes ... See more keywords