Mutational and structural characteristics of four novel heterozygous C-propeptide mutations in the proα1(I) collagen gene in Chinese osteogenesis imperfecta patients-Reference-Cited by-同舟云学术

Mutational and structural characteristics of four novel heterozygous C-propeptide mutations in the proα1(I) collagen gene in Chinese osteogenesis imperfecta patients

Published:2014-01-12 Issue:4 Volume:80 Page:524-531
ISSN:0300-0664
Container-title:Clinical Endocrinology
language:en
Short-container-title:Clin Endocrinol

Author:

Lu Yanqin¹²,Ren Xiuzhi³,Wang Yanzhou⁴,Li Tianyou⁴,Li Fuhui²,Wang Shifu⁵,Xu Chao¹²,Wu Guohua⁶,Li Hu¹²,Li Gongchao¹,Zhao Fei¹²,Wang Ziqiang¹²,Mo Xinkai¹²,Han Jinxiang¹²

Affiliation:

1. Key Laboratory for Biotech-Drugs Ministry of Health; Key Laboratory for Modern Medicine and Technology of Shandong Province; Key Laboratory for Rare & Uncommon Diseases of Shandong Province; Key Laboratory for Virology of Shandong Province; Shandong Medicinal Biotechnology Centre; Shandong Academy of Medical Sciences; Jinan China

2. School of Medicine and Life Sciences; University of Jinan-Shandong Academy of Medical Sciences; Jinan China

3. Department of Orthopaedic Surgery; The People's Hospital of Wuqing District; Tianjin China

4. Department of Paediatric Surgery; Shandong Provincial Hospital Affiliated to Shandong University; Jinan China

5. Department of Laboratory; Qilu Children's Hospital of Shandong University; Jinan China

6. Department of Paediatric Surgery; Langfang Red Cross Orthopedics Hospital; Langfang China

Publisher

Wiley

Subject

Endocrinology, Diabetes and Metabolism,Endocrinology

Reference35 articles.

1. Genetic heterogeneity in osteogenesis imperfecta;Sillence;Journal of Medical Genetics,1979

2. Osteogenesis imperfecta;Rauch;Lancet,2004

3. Folding of carboxyl domain and assembly of procollagen I;Doege;Journal of Biological Chemistry,1986

4. Structural basis of fibrillar collagen trimerization and related genetic disorders;Bourhis;Nature Structural & Molecular Biology,2012

Cited by 13 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Type 1 collagen: Synthesis, structure and key functions in bone mineralization;Differentiation;2024-03

2. New Structural and Single Nucleotide Mutations in Type I and Type II Collagens in Taiwanese Children With Type I and Type II Collagenopathies;Frontiers in Genetics;2021-07-28

3. Genetic analysis in Japanese patients with osteogenesis imperfecta: Genotype and phenotype spectra in 96 probands;Molecular Genetics & Genomic Medicine;2021-05-03

4. Roles of the procollagen C-propeptides in health and disease;Essays in Biochemistry;2019-06-26

5. Splice receptor-site mutation c.697-2A>G of the COL1A1 gene in a Chinese family with osteogenesis imperfecta;Intractable & Rare Diseases Research;2019-05-31