Skeletal Dysplasias Associated with Mild Myopathy—A Clinical and Molecular Review

por Piróg, Katarzyna A., Briggs, Michael D.
Publicado 2010

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

por BRIGGS, MICHAEL D., BELL, PETER A., PIROG, KATARZYNA A.
Publicado 2015

Mild Myopathy Is Associated with COMP but Not MATN3 Mutations in Mouse Models of Genetic Skeletal Diseases

por Piróg, Katarzyna A., Katakura, Yoshihisa, Mironov, Aleksandr, Briggs, Michael D.
Publicado 2013

New therapeutic targets in rare genetic skeletal diseases

por Briggs, Michael D, Bell, Peter A, Wright, Michael J, Pirog, Katarzyna A
Publicado 2015

New developments in chondrocyte ER stress and related diseases

por Briggs, Michael D., Dennis, Ella P., Dietmar, Helen F., Pirog, Katarzyna A.
Publicado 2020

Loss of matrilin 1 does not exacerbate the skeletal phenotype in a mouse model of multiple epiphyseal dysplasia caused by a Matn3 V194D mutation

por Bell, Peter A, Piróg, Katarzyna A, Fresquet, Maryline, Thornton, David J, Boot-Handford, Raymond P, Briggs, Michael D
Publicado 2012

A mouse model offers novel insights into the myopathy and tendinopathy often associated with pseudoachondroplasia and multiple epiphyseal dysplasia

por Piróg, Katarzyna A., Jaka, Oihane, Katakura, Yoshihisa, Meadows, Roger S., Kadler, Karl E., Boot-Handford, Raymond P., Briggs, Michael D.
Publicado 2010

Abnormal Chondrocyte Apoptosis in the Cartilage Growth Plate is Influenced by Genetic Background and Deletion of CHOP in a Targeted Mouse Model of Pseudoachondroplasia

por Piróg, Katarzyna A., Irman, Andreja, Young, Siobhan, Halai, Poonam, Bell, Peter A., Boot-Handford, Raymond P., Briggs, Michael D.
Publicado 2014

A Novel Form of Chondrocyte Stress is Triggered by a COMP Mutation Causing Pseudoachondroplasia

por Suleman, Farhana, Gualeni, Benedetta, Gregson, Hannah J, Leighton, Matthew P, Piróg, Katarzyna A, Edwards, Sarah, Holden, Paul, Boot-Handford, Raymond P, Briggs, Michael D
Publicado 2012

XBP1 signalling is essential for alleviating mutant protein aggregation in ER-stress related skeletal disease

por Piróg, Katarzyna A., Dennis, Ella P., Hartley, Claire L., Jackson, Robert M., Soul, Jamie, Schwartz, Jean-Marc, Bateman, John F., Boot-Handford, Raymond P., Briggs, Michael D.
Publicado 2019

Calcium activated nucleotidase 1 (CANT1) is critical for glycosaminoglycan biosynthesis in cartilage and endochondral ossification

por Paganini, Chiara, Monti, Luca, Costantini, Rossella, Besio, Roberta, Lecci, Silvia, Biggiogera, Marco, Tian, Kun, Schwartz, Jean-Marc, Huber, Céline, Cormier-Daire, Valérie, Gibson, Beth G., Pirog, Katarzyna A., Forlino, Antonella, Rossi, Antonio
Publicado 2019

microRNA-seq of cartilage reveals an overabundance of miR-140-3p which contains functional isomiRs

por Woods, Steven, Charlton, Sarah, Cheung, Kat, Hao, Yao, Soul, Jamie, Reynard, Louise N., Crowe, Natalie, Swingler, Tracey E., Skelton, Andrew J., Piróg, Katarzyna A., Miles, Colin G., Tsompani, Dimitra, Jackson, Robert M., Dalmay, Tamas, Clark, Ian M., Barter, Matt J., Young, David A.
Publicado 2020

Increased hippocampal excitability in miR-324-null mice

por Hayman, Dan J., Modebadze, Tamara, Charlton, Sarah, Cheung, Kat, Soul, Jamie, Lin, Hua, Hao, Yao, Miles, Colin G., Tsompani, Dimitra, Jackson, Robert M., Briggs, Michael D., Piróg, Katarzyna A., Clark, Ian M., Barter, Matt J., Clowry, Gavin J., LeBeau, Fiona E. N., Young, David A.
Publicado 2021