Functional Characterization of a GGPPS Variant Identified in Atypical Femoral Fracture Patients and Delineation of the Role of GGPPS in Bone-Relevant Cell Types-Reference-Cited by-同舟云学术

Functional Characterization of a GGPPS Variant Identified in Atypical Femoral Fracture Patients and Delineation of the Role of GGPPS in Bone-Relevant Cell Types

Published:2018-09-24 Issue:12 Volume:33 Page:2091-2098
ISSN:0884-0431
Container-title:Journal of Bone and Mineral Research
language:en
Short-container-title:J Bone Miner Res

Author:

Roca-Ayats Neus¹,Ng Pei Ying²,Garcia-Giralt Natàlia³,Falcó-Mascaró Maite¹,Cozar Mónica¹,Abril Josep Francesc⁴,Quesada Gómez José Manuel⁵,Prieto-Alhambra Daniel⁶⁷,Nogués Xavier³,Dunford James E⁷,Russell R Graham⁷⁸,Baron Roland²,Grinberg Daniel¹,Balcells Susana¹,Díez-Pérez Adolfo³

Affiliation:

1. Department of Genetics; Microbiology, and Statistics, Facultat de Biologia; Universitat de Barcelona; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), ISCIII, IBUB, IRSJD; Barcelona Spain

2. Division of Bone and Mineral Research, Department of Oral Medicine; Harvard School of Dental Medicine, and Department of Medicine; Harvard Medical School; Boston MA USA

3. Musculoskeletal Research Group; IMIM (Hospital del Mar Medical Research Institute); Centro de Investigación Biomédica en Red en Fragilidad y Envejecimiento Saludable (CIBERFES), ISCIII; Barcelona Spain

4. Department of Genetics, Microbiology, and Statistics, Facultat de Biologia; Universitat de Barcelona, IBUB; Barcelona Spain

5. Mineral Metabolism Unit; Instituto Maimónides de Investigación Biomédica de Córdoba (IMIBIC); Hospital Universitario Reina Sofía, CIBERFES, ISCII; Córdoba Spain

6. GREMPAL (Grup de Recerca en Malalties Prevalents de l'Aparell Locomotor), Idiap Jordi Gol Primary Care Research Institute; CIBERFES; Autonomous University of Barcelona; Barcelona Spain

7. NIHR Musculoskeletal BRU and Botnar Research Centre; Nuffield Department of Orthopaedics, Rheumatology, and Musculoskeletal Sciences; University of Oxford; Oxford UK

8. The Mellanby Centre for Bone Research; Department of Oncology and Metabolism; University of Sheffield; Sheffield UK

Funder

Spanish MINECO

FIS, ISCII

Catalan Government

CIBERER

Centro de Investigación Biomédica en Red Fragilidad y Envejecimiento Saludable

F EDER

NIHR Biomedical Research Centre, Oxford, UK

National Institutes of Health

Publisher

Wiley

Subject

Orthopedics and Sports Medicine,Endocrinology, Diabetes and Metabolism

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/jbmr.3580/fullpdf

Reference33 articles.

1. Results of indirect and mixed treatment comparison of fracture efficacy for osteoporosis treatments: a meta-analysis;Freemantle;Osteoporos Int,2013

2. Comparative efficacy of bisphosphonates in short-term fracture prevention for primary osteoporosis: a systematic review with network meta-analyses;Zhou;Osteoporos Int,2016

3. Bisphosphonates can prevent recurrent hip fracture and reduce the mortality in osteoporotic patient with hip fracture: a meta-analysis;Peng;Pak J Med Sci,2016

4. Adverse effects of bisphosphonates: implications for osteoporosis management;Kennel;Mayo Clin Proc,2009

5. Atypical subtrochanteric and diaphyseal femoral fractures: second report of a task force of the American Society for Bone and Mineral Research;Shane;J Bone Miner Res,2014

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4. Expanding the phenotypic and genotypic spectrum of GGPS1 related congenital muscular dystrophy;American Journal of Medical Genetics Part A;2023-12-21

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