Zobrazeno 1 - 10
of 183
pro vyhledávání: '"osteogenesis imperfect"'
Akademický článek
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Publikováno v:
Сахарный диабет, Vol 24, Iss 5, Pp 470-476 (2022)
Osteogenesis imperfecta (OI) is a hereditary connective tissue disorder accompanied by increased bone fragility. Five types of OI are distinguished on the basis of phenotypic manifestations. OI type 1 is characterized by a reduced amount of normal ty
Externí odkaz:
https://doaj.org/article/6d1d461c1b1a4567b4d90fa0a26a56b9
Autor:
Wen-bin Zheng, Jing Hu, Di-Chen Zhao, Bing-Na Zhou, Ou Wang, Yan Jiang, Wei-Bo Xia, Xiao-ping Xing, Mei Li
Publikováno v:
Frontiers in Endocrinology, Vol 13 (2022)
ObjectiveOsteoblasts are discovered to secrete hormones with endocrine effects on metabolism, and osteocalcin (OC) is the most abundant non-collagenous protein in bone. We investigate the relationship between serum OC levels and glycolipid metabolism
Externí odkaz:
https://doaj.org/article/5b6044928d3240b488f22c24cce7fcba
Publikováno v:
Biology, Medicine & Natural Product Chemistry, Vol 10, Iss 1, Pp 23-25 (2021)
Osteogenesis Imperfecta is a hereditary connective tissue disorder due to COL1A1/2 mutation causing gene defect encoding proteins to metabolize collagen. The skeletal manifestation of OI causing bone incompetence, hence the name brittle bone disease.
Externí odkaz:
https://doaj.org/article/05655016db4f4bc282e30ed8b61fbe70
Akademický článek
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Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 8, Pp n/a-n/a (2020)
Abstract Background Wnt signaling pathway plays an important role in promoting ostergenesis. WNT1 mutations have been considered as a major cause of ostergenesis imperfect (OI). We identified an OI patient with pathogenic consanguineous‐derived hom
Externí odkaz:
https://doaj.org/article/7aa94b3c4e7c4970ac42ee60bf7dd1f8
Autor:
Fatemeh Maghami, Seyed Mohammad Bagher Tabei, Hossein Moravej, Hassan Dastsooz, Farzaneh Modarresi, Mohammad Silawi, Mohammad Ali Faghihi
Publikováno v:
BMC Medical Genetics, Vol 19, Iss 1, Pp 1-7 (2018)
Abstract Background Osteogenesis imperfecta (OI) is a group of connective tissue disorder caused by mutations of genes involved in the production of collagen and its supporting proteins. Although the majority of reported OI variants are in COL1A1 and
Externí odkaz:
https://doaj.org/article/dead331679564ed18bfd9864cb0e6edb
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
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Autor:
Siraprapa Tongkobpetch, Noppachart Limpaphayom, Apiruk Sangsin, Thantrira Porntaveetus, Kanya Suphapeetiporn, Vorasuk Shotelersuk
Publikováno v:
Genetics and Molecular Biology, Iss 0 (2017)
Abstract Osteogenesis imperfecta (OI) is genetically heterogeneous. Mutations in COL1A1 and COL1A2 are responsible for at least 90% of the cases, which are transmitted in an autosomal dominant manner or are de novo events. We identified a Thai boy wi
Externí odkaz:
https://doaj.org/article/f6d8921878d945298b31890ff13f61ed
Publikováno v:
Biology, Medicine & Natural Product Chemistry, Vol 10, Iss 1, Pp 23-25 (2021)
Osteogenesis Imperfecta is a hereditary connective tissue disorder due to COL1A1/2 mutation causing gene defect encoding proteins to metabolize collagen. The skeletal manifestation of OI causing bone incompetence, hence the name brittle bone disease.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::de2a30b327c8b8611a3d82d77314c486
http://sciencebiology.org/index.php/BIOMEDICH/article/view/125
http://sciencebiology.org/index.php/BIOMEDICH/article/view/125