Loss of matrilin 1 does not exacerbate the skeletal phenotype in a mouse model of multiple epiphyseal dysplasia caused by a Matn3 V194D mutation
Author:
Affiliation:
1. University of Manchester, Manchester, UK
Publisher
Wiley
Subject
Pharmacology (medical),Immunology,Rheumatology,Immunology and Allergy
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/art.33486
Reference34 articles.
1. Nosology and classification of genetic skeletal disorders: 2006 revision
2. Genetic Disorders of the Skeleton: A Developmental Approach
3. Multiple epiphyseal dysplasia: clinical and radiographic features, differential diagnosis and molecular basis
4. Pseudoachondroplasia and multiple epiphyseal dysplasia: Mutation review, molecular interactions, and genotype to phenotype correlations
5. Pseudoachondroplasia and multiple epiphyseal dysplasia: A 7‐year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution
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1. A novel homozygous missense variant in MATN3 causes spondylo-epimetaphyseal dysplasia Matrilin 3 type in a consanguineous family;European Journal of Medical Genetics;2020-08
2. A novel p.A191D matrilin-3 variant in a Vietnamese family with multiple epiphyseal dysplasia: a case report;BMC Musculoskeletal Disorders;2020-04-07
3. Mice Lacking the Matrilin Family of Extracellular Matrix Proteins Develop Mild Skeletal Abnormalities and Are Susceptible to Age-Associated Osteoarthritis;International Journal of Molecular Sciences;2020-01-19
4. Mechanistic insights into skeletal development gained from genetic disorders;Vertebrate Skeletal Development;2019
5. Extracellular Matrix and Developing Growth Plate;Current Osteoporosis Reports;2014-09-12
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