A NovelIFITM5Mutation in Severe Atypical Osteogenesis Imperfecta Type VI Impairs Osteoblast Production of Pigment Epithelium-Derived Factor-Reference-Cited by-同舟云学术

A NovelIFITM5Mutation in Severe Atypical Osteogenesis Imperfecta Type VI Impairs Osteoblast Production of Pigment Epithelium-Derived Factor

Published:2014-05-19 Issue:6 Volume:29 Page:1402-1411
ISSN:0884-0431
Container-title:Journal of Bone and Mineral Research
language:en
Short-container-title:J Bone Miner Res

Author:

Farber Charles R¹²,Reich Adi³,Barnes Aileen M³,Becerra Patricia⁴,Rauch Frank⁵⁶,Cabral Wayne A³,Bae Alison³,Quinlan Aaron¹²,Glorieux Francis H⁵⁶,Clemens Thomas L⁷⁸,Marini Joan C³

Affiliation:

1. Center for Public Health Genomics; University of Virginia; Charlottesville VA USA

2. Departments of Public Health Sciences, Biochemistry, and Molecular Genetics; University of Virginia; Charlottesville VA USA

3. Bone and Extracellular Matrix Branch; NICHD, NIH; Bethesda MD USA

4. Section on Protein Structure and Function; LRCMB, NEI, NIH; Bethesda MD USA

5. Shriners Hospital for Children; Montreal Canada

6. McGill University; Montreal Canada

7. Department of Orthopaedic Surgery; Johns Hopkins School of Medicine; Baltimore MD USA

8. Baltimore VA Medical Center; Baltimore; MD USA

Publisher

Wiley

Subject

Orthopedics and Sports Medicine,Endocrinology, Diabetes and Metabolism

Reference52 articles.

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3. Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans;Marini;Hum Mutat.,2007

4. Type V osteogenesis imperfecta: a new form of brittle bone disease;Glorieux;J Bone Miner Res.,2000

5. Osteogenesis imperfecta type VI: a form of brittle bone disease with a mineralization defect;Glorieux;J Bone Miner Res.,2002

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