Functional analysis of a hypomorphic allele shows that MMP14 catalytic activity is the prime determinant of the Winchester syndrome phenotype

Ivo J. H. M. de Vos, Evelyn Yaqiong Tao, Sheena Li Ming Ong, Julian L. Goggi, Thomas Scerri, Gabrielle R. Wilson, Chernis Guai Mun Low, Arnette Shi Wei Wong, Dominic Grussu, Alexander P. A. Stegmann, Michel van Geel, Renske Janssen, David J. Amor, Melanie Bahlo, Norris R. Dunn, Thomas J. Carney, Paul J. Lockhart, Barry J. Coull, Maurice A. M. van Steensel

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Pages (from-to)2775-2788
Number of pages14
JournalHuman Molecular Genetics
Volume27
Issue number16
DOIs
Publication statusPublished - 15 Aug 2018

Keywords

  • CARDIO-SKELETAL SYNDROME
  • ZINC-FINGER TARGETER
  • CELL-MIGRATION
  • 1-MATRIX METALLOPROTEINASE
  • MULTICENTRIC OSTEOLYSIS
  • MEMBRANE
  • MT1-MMP
  • ZEBRAFISH
  • MUTATION
  • DISEASE

Cite this

de Vos, I. J. H. M., Tao, E. Y., Ong, S. L. M., Goggi, J. L., Scerri, T., Wilson, G. R., Low, C. G. M., Wong, A. S. W., Grussu, D., Stegmann, A. P. A., van Geel, M., Janssen, R., Amor, D. J., Bahlo, M., Dunn, N. R., Carney, T. J., Lockhart, P. J., Coull, B. J., & van Steensel, M. A. M. (2018). Functional analysis of a hypomorphic allele shows that MMP14 catalytic activity is the prime determinant of the Winchester syndrome phenotype. Human Molecular Genetics, 27(16), 2775-2788. https://doi.org/10.1093/hmg/ddy168