scholarly journals Cyclic Pamidronate Treatment in Two Korean Boys with Osteogenesis Imperfecta Type I Caused by COL1A1 Mutations - Case Report

2017 ◽  
Vol 03 (01) ◽  
Author(s):  
Jinkyung Kong ◽  
Ah Young Seo ◽  
Sung Yoon Cho ◽  
Dong Kyu Jin ◽  
Heon Seok Han
Keyword(s):  
Case Report ◽  
Osteogenesis Imperfecta ◽  
Type I ◽  
Osteogenesis Imperfecta Type ◽  
Osteogenesis Imperfecta Type I

scholarly journals Osteogenesis imperfecta type I: A case report

2014 ◽  
Vol 7 (6) ◽  
pp. 1535-1538 ◽  
Author(s):  
JIANMIN REN ◽  
XIAOJIE XU ◽  
XIANGDONG JIAN ◽  
JIERU WANG
Keyword(s):  
Case Report ◽  
Osteogenesis Imperfecta ◽  
Type I ◽  
Osteogenesis Imperfecta Type ◽  
Osteogenesis Imperfecta Type I

Effects of treatment with etidronate and alfacalcidol for osteogenesis imperfecta type I: a case report

2003 ◽  
Vol 8 (2) ◽  
pp. 243-247 ◽  
Author(s):  
J.u. Iwamoto ◽  
Kenjiro Matsu ◽  
Tsuyoshi Takeda ◽  
Shoichi Ichimura ◽  
Mitsuyoshi Uzawa
Keyword(s):  
Case Report ◽  
Osteogenesis Imperfecta ◽  
Type I ◽  
Osteogenesis Imperfecta Type ◽  
Osteogenesis Imperfecta Type I

A novel transgenic murine model with persistently brittle bones simulating osteogenesis imperfecta type I

Bone ◽  
2019 ◽  
Vol 127 ◽  
pp. 646-655 ◽  
Author(s):  
Yi Liu ◽  
Jianhai Wang ◽  
Shuo Liu ◽  
Mingjie Kuang ◽  
Yaqing Jing ◽  
...  
Keyword(s):  
Osteogenesis Imperfecta ◽  
Murine Model ◽  
Type I ◽  
Osteogenesis Imperfecta Type ◽  
Transgenic Murine Model ◽  
Brittle Bones ◽  
Osteogenesis Imperfecta Type I

scholarly journals Muscle Anatomy and Dynamic Muscle Function in Osteogenesis Imperfecta Type I

2014 ◽  
Vol 99 (2) ◽  
pp. E356-E362 ◽  
Author(s):  
Louis-Nicolas Veilleux ◽  
Martin Lemay ◽  
Annie Pouliot-Laforte ◽  
Moira S. Cheung ◽  
Francis H. Glorieux ◽  
...  
Keyword(s):  
Osteogenesis Imperfecta ◽  
Muscle Function ◽  
Type I ◽  
Osteogenesis Imperfecta Type ◽  
Osteogenesis Imperfecta Type I

Type I Collagen Biosynthesis by Skin Fibroblasts from Patients with Idiopathic Juvenile Osteoporosis

1995 ◽  
Vol 89 (1) ◽  
pp. 69-73 ◽  
Author(s):  
Andrew E. Pocock ◽  
Martin J. O. Francis ◽  
Roger Smith
Keyword(s):  
Osteogenesis Imperfecta ◽  
Type I Collagen ◽  
The Other ◽  
Type I ◽  
Osteogenesis Imperfecta Type ◽  
Unrelated Control ◽  
Type Iii ◽  
Collagen Peptides ◽  
Idiopathic Juvenile Osteoporosis ◽  
Osteogenesis Imperfecta Type I

1. Skin fibroblast lines were cultured from nine patients who had the features of idiopathic juvenile osteoporosis, six relatives, five unrelated control subjects and three unrelated patients with osteogenesis imperfecta type I. Some patients with idiopathic juvenile osteoporosis were adults whose previous osteoporosis was in remission. Two patients with idiopathic juvenile osteoporosis were siblings and one patient with idiopathic juvenile osteoporosis had a daughter with severe osteogenesis imperfecta (type III). 2. The ratio of type III to type I collagen, synthesized by fibroblasts, was increased in two of the patients with osteogenesis imperfecta type I and in the daughter with osteogenesis imperfecta type III, but was normal in all the other patients with idiopathic juvenile osteoporosis and the other relatives. 3. Radiolabelled collagen was digested by cyanogen bromide and separated on SDS-PAGE. Unreduced collagen peptides migrated normally, except those from both the two siblings with idiopathic juvenile osteoporosis. In these two lines, abnormal migration suggested the presence of collagen I mutations. 4. The secretion of synthesized collagen by these two idiopathic juvenile osteoporosis lines and two others was reduced to only 43–45% as compared with a line from a 13-year-old control subject, which was defined as 100%. The three osteogenesis imperfecta type I lines secreted 18–37%, the other five idiopathic juvenile osteoporosis lines secreted 57–75%, the relatives (including the daughter with severe osteogenesis imperfecta) secreted 49–115% and the controls secreted 69–102%. 5. We conclude that qualitative abnormalities of type I collagen associated with a reduction in total secreted collagen synthesis may occur in a minority of patients with idiopathic juvenile osteoporosis; these patients could represent a subset of patients with this disorder.

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