Novel compound heterozygous mutations in SERPINH1 cause rare autosomal recessive osteogenesis imperfecta type X

被引:0
作者
Y. Song
D. Zhao
X. Xu
F. Lv
L. Li
Y. Jiang
O. Wang
W. Xia
X. Xing
M. Li
机构
[1] Peking Union Medical College Hospital,Department of Endocrinology, Key Laboratory of Endocrinology, National Health and Family Planning Commission
[2] Chinese Academy of Medical Sciences and Peking Union Medical College,Department of Endocrinology, Beijing Jishuitan Hospital
[3] The Fourth Clinical Medical College of Peking University,undefined
来源
Osteoporosis International | 2018年 / 29卷
关键词
Bisphosphonates; HSP47; Osteogenesis imperfecta;
D O I
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中图分类号
学科分类号
摘要
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页码:1389 / 1396
页数:7
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[1]  
Forlino A(2016)Osteogenesis imperfecta Lancet 387 1657-1671
[2]  
Marini JC(2017)Genetic causes and mechanisms of osteogenesis imperfecta Bone 102 40-49
[3]  
Lim J(2017)Osteogenesis imperfecta due to mutations in non-collagenous genes: lessons in the biology of bone formation Curr Opin Pediatr 26 500-507
[4]  
Grafe I(2017)A novel large fragment deletion in PLS3 causes rare X-linked early-onset osteoporosis and response to zoledronic acid Osteoporos Int 28 2691-2700
[5]  
Alexander S(2017)Novel mutations in FKBP10 in Chinese patients with osteogenesis imperfecta and their treatment with zoledronic acid J Hum Genet 62 205-211
[6]  
Lee B(2014)Novel mutations in FKBP10 and PLOD2 cause rare Bruck syndrome in Chinese patients PLoS One 9 338-347
[7]  
Marini JC(2013)Bone collagen: new clues to its mineralization mechanism from recessive osteogenesis imperfecta Calcif Tissue Int 93 212-218
[8]  
Reich A(1998)The retention of abnormal type I procollagen and correlated expression of HSP 47 in fibroblasts from a patient with lethal osteogenesis imperfecta J Pathol 184 142-151
[9]  
Smith SM(2017)Biology of Hsp47 (serpin H1), a collagen-specific molecular chaperone Semin Cell Dev Biol 62 273-286
[10]  
Lv F(1993)Hsp 47 is localized to regions of type I collagen production in developing murine femurs and molars Connect Tissue Res 29 1309-1319