Mutations That Alter the Carboxy-Terminal-Propeptide Cleavage Site of the Chains of Type I Procollagen Are Associated With a Unique Osteogenesis Imperfecta Phenotype-Reference-Cited by-同舟云学术

Mutations That Alter the Carboxy-Terminal-Propeptide Cleavage Site of the Chains of Type I Procollagen Are Associated With a Unique Osteogenesis Imperfecta Phenotype

Published:2018-04-18 Issue:7 Volume:33 Page:1260-1271
ISSN:0884-0431
Container-title:Journal of Bone and Mineral Research
language:en
Short-container-title:J Bone Miner Res

Author:

Cundy Tim¹,Dray Michael²,Delahunt John³,Hald Jannie Dahl⁴,Langdahl Bente⁴,Li Chumei⁵,Szybowska Marta⁵,Mohammed Shehla⁶,Duncan Emma L⁷,McInerney-Leo Aideen M⁸,Wheeler Patricia G⁹,Roschger Paul¹⁰,Klaushofer Klaus¹⁰,Rai Jyoti¹¹,Weis MaryAnn¹¹,Eyre David¹¹,Schwarze Ulrike¹²,Byers Peter H¹²¹³

Affiliation:

1. Department of Medicine; Faculty of Medical and Health Sciences; University of Auckland; Auckland New Zealand

2. Histology Department; Waikato Hospital; Hamilton New Zealand

3. Department of Medicine; University of Otago; Wellington New Zealand

4. Department of Endocrinology and Metabolism; Aarhus University Hospital; Aarhus Denmark

5. McMaster University Medical Center; Hamilton Canada

6. Department of Clinical Genetics; Guy's Hospital; London UK

7. Institute of Health and Biomedical Innovation; Faculty of Health; Queensland University of Technology; Brisbane Australia

8. Translational Genomics Group, Institute of Health and Biomedical Innovation, Woolloongabba; Queensland University of Technology; Woolloongabba Australia

9. Arnold Palmer Hospital for Children; Orlando FL USA

10. Ludwig Boltzmann Institute of Osteology at the Hanusch Hospital of WGKK and AUVA Trauma Centre Meidling, 1st Medical Department; Hanusch Hospital; Vienna Austria

11. Department of Orthopaedics and Sports Medicine; University of Washington; Seattle WA USA

12. Department of Pathology; University of Washington; Seattle WA USA

13. Department of Medicine; Division of Medical Genetics; University of Washington; Seattle WA USA

Publisher

Wiley

Subject

Orthopedics and Sports Medicine,Endocrinology, Diabetes and Metabolism

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/jbmr.3424/fullpdf

Reference46 articles.

1. Type I procollagen carboxy-terminal proteinase from chick embryo tendons: purification and characterization;Hojima;J Biol Chem,1985

2. 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

3. Genotype-phenotype correlations in nonlethal osteogenesis imperfecta caused by mutations in the helical domain of collagen type I;Rauch;Eur J Hum Genet,2010

4. Relationship between genotype and skeletal phenotype in children and adolescents with osteogenesis imperfecta;Rauch;J Bone Miner Res,2010

5. Sequencing of collagen I in three patients with multiple fractures of unknown aetiology reveals novel mutations causing osteogenesis imperfecta with normal to high BMD (Abstract);Lindahl;Am Soc Bone Miner Res,2007

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