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Osteogenesis imperfecta is a group of genetic disorders, all of which cause bone fragility. OI has high genetic heterogeneity , that is, many different genetic mutations lead to the same or similar sets of observable symptoms ( phenotypes ).
[1] [2] This disorder is unique from osteogenesis imperfecta because of the presence of cortical defects and the absence of defective collagen or osteopenia. [3] It is not exactly known whether this condition is autosomal dominant or autosomal recessive. It has been described in 2 non-consanguineous families. [4] [5]
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 ...
He has published over 130 original articles, has contributed over 30 book chapters, 8 books/monographs, and has contributed to conference proceedings more than a dozen times. He has been a peer reviewer/editor to 8 different groups/journals. [6] Sillence created the standard four-type system of osteogenesis imperfecta in 1979. [7]
1277 12842 Ensembl ENSG00000108821 ENSMUSG00000001506 UniProt P02452 P11087 RefSeq (mRNA) NM_000088 NM_007742 RefSeq (protein) NP_000079 NP_031768 Location (UCSC) Chr 17: 50.18 – 50.2 Mb Chr 11: 94.83 – 94.84 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Collagen, type I, alpha 1, also known as alpha-1 type I collagen, is a protein that in humans is encoded by the COL1A1 gene ...
Leprecan is a protein associated with osteogenesis imperfecta [1] type VIII. Leprecan is part of a superfamily of 2OG-Fe(II) dioxygenase, along with DNA repair protein AlkB, and disease resistant EGL-9. The enzyme was found to be a type of hydroxylases used in the substrate formation of protein glycosylation. [2]
It was first discovered in 1972 by Bianchine et al. when they described three families with osteogenesis imperfecta, pseudoglioma, retinoblastoma, and recurrence of bone fractures. [ 8 ] References
The genetics of Bruck syndrome differs from osteogenesis imperfecta. Osteogenesis imperfecta usually involves autosomal dominant mutations to COL1A1 or COL1A2 which encode type 1 procollagen. [ 6 ] Bruck syndrome is linked to mutations in two genes, and therefore is divided in two types.