Common susceptibility alleles andSQSTM1mutations predict disease extent and severity in a multinational study of patients with Paget's disease-Reference-Cited by-同舟云学术

Common susceptibility alleles andSQSTM1mutations predict disease extent and severity in a multinational study of patients with Paget's disease

Published:2013-10-18 Issue:11 Volume:28 Page:2338-2346
ISSN:0884-0431
Container-title:Journal of Bone and Mineral Research
language:en
Short-container-title:J Bone Miner Res

Author:

Albagha Omar ME¹,Visconti Micaela Rios¹,Alonso Nerea¹,Wani Sachin¹,Goodman Kirsteen²,Fraser William D³,Gennari Luigi⁴,Merlotti Daniela⁴,Gianfrancesco Fernando⁵,Esposito Teresa⁵,Rendina Domenico⁶,di Stefano Marco⁷,Isaia Giancarlo⁷,Brandi Maria Luisa⁸,Giusti Francesca⁸,Del Pino-Montes Javier⁹,Corral-Gudino Luis¹⁰,Gonzalez-Sarmiento Rogelio⁹,Ward Lynley¹¹,Rea Sarah L¹²,Ratajczak Thomas¹¹¹²,Walsh John P¹¹¹³,Ralston Stuart H¹²

Affiliation:

1. Rheumatic Diseases Unit, Institute of Genetics and Molecular Medicine; University of Edinburgh; Edinburgh UK

2. Edinburgh Clinical Trials Unit, Institute of Genetics and Molecular Medicine; University of Edinburgh; Edinburgh UK

3. Department of Medicine; University of East Anglia; Norwich UK

4. Department of Internal Medicine, Endocrine Metabolic Sciences and Biochemistry; University of Siena; Siena Italy

5. Institute of Genetics and Biophysics “Adriano Buzzati-Traverso”; Italian National Research Council; Naples Italy

6. Department of Clinical and Experimental Medicine; Federico II University; Naples Italy

7. Medical Science Department; University of Torino; Torino Italy

8. Bone Metabolic Unit, Department of Internal Medicine; University of Florence; Florence Italy

9. Departamento de Medicina; Universidad de Salamanca, Siervicio de Reumatología, Hospital Universitario de Salamanca, Instituto de Invéstigación Biomedica de Salamanca, IBSAL; Salamanca Spain

10. Servicio de Medicina Interna; Hospital el Bierzo, Ponferrada, Leon, Instituto de Invéstigación Biomedica de Salamanca, IBSAL; Salamanca Spain

11. Department of Endocrinology and Diabetes; Sir Charles Gairdner Hospital; Nedlands Australia

12. Western Australian Institute for Medical Research, Centre for Medical Research; University of Western Australia; Crawley Australia

13. School of Medicine and Pharmacology; University of Western Australia; Crawley Australia

Publisher

Wiley

Subject

Orthopedics and Sports Medicine,Endocrinology, Diabetes and Metabolism

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/jbmr.1975/fullpdf

Reference31 articles.

1. Incidence and natural history of Paget's disease of bone in England and Wales;van Staa;J Bone Miner Res.,2002

2. Clinical determinants of quality of life in Paget's disease of bone;Langston;Calcif Tissue Int.,2007

3. Paget's disease of bone and quality of life;Gold;J Bone Miner Res.,1996

4. Recurrent mutation of the gene encoding sequestosome 1 (SQSTM1/p62) in Paget disease of bone;Laurin;Am J Hum Genet.,2002

5. Domain specific mutations in sequestosome 1 (SQSTM1) cause familial and sporadic Paget's disease;Hocking;Hum Mol Genet.,2002

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