Zobrazeno 1 - 10
of 22
pro vyhledávání: '"Yu-Wen Song"'
Autor:
Lu-Jiao Li, Fang Lyu, Yu-Wen Song, Ou Wang, Yan Jiang, Wei-Bo Xia, Xiao-Ping Xing, Mei Li, Xin Chen
Publikováno v:
Chinese Medical Journal, Vol 132, Iss 2, Pp 145-153 (2019)
Abstract. Background:. Osteogenesis imperfecta (OI), a heritable bone fragility disorder, is mainly caused by mutations in COL1A1 gene encoding α1 chain of type I collagen. This study aimed to investigate the COL1A1 mutation spectrum and quantitativ
Externí odkaz:
https://doaj.org/article/12a69068ecfc4001ba1ae6c743729241
Autor:
Yu-Xiao Zhao, Yu-Wen Song, Liang Zhang, Feng-Jie Zheng, Xue-Meng Wang, Xiang-Hua Zhuang, Fei Wu, Jian Liu
Publikováno v:
Clinics, Vol 75 (2020)
OBJECTIVES: Previous studies have not shown any correlation between bile acid metabolism and bone mineral density (BMD) in women with postmenopausal osteoporosis. Thus, the current study evaluated the association between bile acid levels as well as B
Externí odkaz:
https://doaj.org/article/0aa243acc50d4cb8868515f415c3f329
Autor:
Shuyan Yu, Pan Shang, Xianghua Zhuang, Feng-Jie Zheng, Shihong Chen, Zhe Pan, Feng Han, Yu-Wen Song
Publikováno v:
Biochemical and Biophysical Research Communications. 525:286-291
Lipin1 is important in lipid synthesis because of its phosphatidate phosphatase activity, and it also functions as transcriptional coactivators to regulate the expression of genes involved in lipid metabolism. We found that fld mice exhibit cognitive
Autor:
Lu-jiao Li, Yu-wen Song, Xiu-xiu Wei, Ou Wang, Weibo Xia, Xiuli Zhao, Xiaoping Xing, Xiao-jie Xu, Fang Lv, Mei Li, Asan, Yan Jiang
Publikováno v:
Clinica Chimica Acta. 489:21-28
Background Osteogenesis imperfecta (OI) is a group of hereditary disorders characterized by low bone mass and recurrent fractures. OI patients of autosomal recessive inheritance are extremely rare, of which OI type XIII is attributable to mutation in
Akademický článek
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Akademický článek
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Autor:
Yu-wen Song, Wenbo Wang, Qianqian Pang, J. Du, X.-L. Lian, Xiaoping Xing, Ou Wang, Weibo Xia, Yan Jiang, Ming Li
Publikováno v:
Journal of endocrinological investigation. 42(10)
Primary hypertrophic osteoarthropathy (PHO) is an inherited disease characterized by digital clubbing, periostosis and pachydermia with defects in the degradation of prostaglandin E2 (PGE2). Mutations in SLCO2A1 gene-encoding prostaglandin transporte
Autor:
Yi Liu, Ou Wang, Weibo Xia, Dou-dou Ma, Xiao-jie Xu, Yu-wen Song, Yan Jiang, Fang Lv, Xiaoping Xing, Li-jie Song, Mei Li, Jian-yi Wang, Asan
Publikováno v:
Clinica Chimica Acta. 461:172-180
Backgrounds Osteogenesis imperfecta (OI) is a rare inherited disease characterized by increased bone fragility and vulnerability to fractures. Recently, WNT1 is identified as a new candidate gene for OI, here we detect pathogenic mutations in WNT1 an
Autor:
Yu-wen Song, Yan Jiang, Ou Wang, Weibo Xia, Jian-yi Wang, Yi Liu, Li-jie Song, Mei Li, Jiawei Wang, Xiao-jie Xu, Fang Lv, Asan, Xiaoping Xing
Publikováno v:
Journal of Human Genetics. 61:539-545
Osteogenesis imperfecta (OI) is a group of clinically and genetically heterogeneous disorders characterized by decreased bone mass and recurrent bone fractures. Transmembrane protein 38B (TMEM38B) gene encodes trimeric intracellular cation channel ty
Autor:
Peng Gao, Lu-jiao Li, Xiao-jie Xu, Mei Li, Fang Lv, Yan Jiang, Xiaoping Xing, Yu-wen Song, Ou Wang, Weibo Xia
Publikováno v:
Clinica chimica acta; international journal of clinical chemistry. 468
Background Congenital insensitivity to pain with anhidrosis (CIPA) is an extremely rare autosomal recessive autonomic and sensory neuropathy. CIPA is associated with various mutations in NTRK1 . Cases Two unrelated Chinese patients presented separate