Skip to main content
Key Specialties
Cardiology Diabetology Endocrinology Gastroenterology Geriatrics and Gerontology Gynecology and Obstetrics Hematology Infectious Disease Internal Medicine Nephrology Neurology Oncology Pediatrics Respiratory Medicine Rheumatology Surgery
Congress Coverage
2024 ACC Congress 2023 ESMO Congress 2023 EASD Congress 2023 ERS Congress 2023 ESC Congress
Clinical Collections
Advances in Alzheimer’s

At a glance: The STEP trials

A round-up of the STEP phase 3 clinical trials evaluating semaglutide for weight loss in people with overweight or obesity.
ADVANCED SEARCH
Log in
Top
BMC Musculoskeletal Disorders
Published in: BMC Musculoskeletal Disorders 1/2015

Open Access 01-12-2015 | Meeting abstract

Animal models and systems biology approaches for the functional validation of genetic determinants of skeletal diseases

Authors: Peter A Bell, Michael D Briggs, EU-FP7 SYBIL

Published in: BMC Musculoskeletal Disorders | Special Issue 1/2015

Login to get access

Excerpt

Rare skeletal diseases are a diverse group of diseases that primarily affect development of the skeleton. There are more than 450 unique phenotypes that, although individually rare, have an overall prevalence of at least 1 per 4,000 children. Pseudoachondroplasia (PSACH) and multiple epiphyseal dysplasia (MED) are skeletal diseases caused by missense mutations/deletions in the genes encoding important cartilage extracellular matrix proteins (ECM), and are characterized by disproportionate short stature, joint pain and early-onset osteoarthritis. …
Metadata
Title
Animal models and systems biology approaches for the functional validation of genetic determinants of skeletal diseases
Authors
Peter A Bell
Michael D Briggs
EU-FP7 SYBIL
Publication date
01-12-2015
Publisher
BioMed Central
Published in
BMC Musculoskeletal Disorders / Issue Special Issue 1/2015
Electronic ISSN: 1471-2474
DOI
https://doi.org/10.1186/1471-2474-16-S1-S18

Other articles of this Special Issue 1/2015

BMC Musculoskeletal Disorders 1/2015 Go to the issue

Meeting abstract

Canine chondrodystrophic intervertebral disc disease (Hansen type I disc disease)

Meeting abstract

Musculoskeletal health from the “One Medicine” perspective – what can we learn from large and small animal models (with emphasis on articular cartilage)?

Meeting abstract

Global burden of osteoarthritis and musculoskeletal diseases

Meeting abstract

Ageing in humans: separating intrinsic ageing from lifestyle effects

Meeting abstract

Mechanisms of FAI cartilage damage: experimental & simulation studies

Meeting abstract

Musculoskeletal health and osteoarthritis in the UK army – the ADVANCE study (Armed Services Trauma Rehabilitation Outcome Study)