The utility of mouse models to provide information regarding the pathomolecular mechanisms in human genetic skeletal diseases: The emerging role of endoplasmic reticulum stress (Review)

• Published in: International journal of molecular medicine Vol. 35; no. 6; pp. 1483 - 1492
• Main Authors: BRIGGS, MICHAEL D, BELL, PETER A, PIROG, KATARZYNA A
• Format: Journal Article
• Language: English
• Published: Greece D.A. Spandidos 01.06.2015; Spandidos Publications; Spandidos Publications UK Ltd
• Subjects: Achondroplasia - genetics; Achondroplasia - metabolism; Achondroplasia - pathology; Animals; Apoptosis; Bone diseases; cartilage; Cartilage Oligomeric Matrix Protein - genetics; Cartilage Oligomeric Matrix Protein - metabolism; Cell culture; Collagen; Development and progression; Disease; disease mechanisms; Disease Models, Animal; Endoplasmic reticulum; endoplasmic reticulum stress; Gene mutations; Genes; Genetic disorders; Genetic research; Health aspects; Humans; Identification and classification; Matrilin Proteins - genetics; Matrilin Proteins - metabolism; Mice; mouse models; multiple epiphyseal dysplasia; Mutation; Osteochondrodysplasias - genetics; Osteochondrodysplasias - metabolism; Osteochondrodysplasias - pathology; Phenotype; Proteins; pseudoachondroplasia; Retention; Rodents; skeletal dysplasia; Studies

Genetic skeletal diseases (GSDs) are an extremely diverse and complex group of rare genetic diseases that primarily affect the development and homeostasis of the osseous skeleton. There are more than 450 unique and well-characterised phenotypes that range in severity from relatively mild to severe a...