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Osteogenesis imperfecta (IPA: / ˌ ɒ s t i oʊ ˈ dʒ ɛ n ə s ɪ s ˌ ɪ m p ɜːr ˈ f ɛ k t ə /; [4] OI), colloquially known as brittle bone disease, is a group of genetic disorders that all result in bones that break easily.
These alterations negatively affect tissues that are rich in type I collagen, such as the skin, bones, teeth, and tendons, leading to the signs and symptoms of type III osteogenesis imperfecta. Osteogenesis imperfecta, type IV : Several different types of mutations in the COL1A1 gene cause osteogenesis imperfecta type IV.
73835 Ensembl ENSG00000206013 ENSMUSG00000025489 UniProt A6NNB3 O88728 RefSeq (mRNA) NM_001025295 NM_053088 RefSeq (protein) NP_001020466 NP_444318 Location (UCSC) Chr 11: 0.3 – 0.3 Mb Chr 7: 140.53 – 140.53 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Interferon-induced transmembrane protein 5 is a gene that encodes a membrane protein thought to play a role in bone ...
Bone disease refers to the medical conditions which affect the bone. [1] Terminology ... Osteogenesis imperfecta [18] Osteomalacia [19] Osteomyelitis [20] Osteopenia [21]
Connective tissue diseases can be classified into two groups: (1) a group of relatively rare genetic disorders affecting the primary structure of connective tissue; and (2) a number of acquired conditions where the connective tissues are the site of multiple, more or less distinct immune and inflammatory reactions.
When looking at the mice’s bones, they found that the menopausal mice had components like lower bone mineral density in a certain area of the tibia called the metaphysis.
Figures in film, television, video games and novels depicted as having osteogenesis imperfecta include: Samuel L. Jackson's character Elijah Price in M. Night Shyamalan's 2000 film Unbreakable and its 2019 follow-up Glass, who was born with type I osteogenesis imperfecta and who adopts his childhood nickname "Mr. Glass" as a villain identity. [62]
TODAY/AOL 'Ideal to Real' body image survey results. Brynn Mannino. Updated July 14, 2016 at 10:10 PM. ... USA TODAY. California roads buried in mud after powerful storm triggers landslides.