Functional analysis of a hypomorphic allele shows that MMP14 catalytic activity is the prime determinant of the Winchester syndrome phenotype
Ivo JHM 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 PA Stegmann, Michel van Geel, Renske Janssen, David J Amor, Melanie Bahlo, Norris R Dunn, Thomas J Carney, Paul J Lockhart, Barry J Coull, Maurice AM van Steensel
Human Molecular Genetics | OXFORD UNIV PRESS | Published : 2018
Awarded by Tenovus Scotland
Awarded by Australian Government (NHMRC Senior Research Fellowship)
Awarded by Australian Government (NHMRC Program Grant)
Awarded by Australian Government (NHMRC Career Development Fellowship)
This work was supported by the Skin Research Institute of Singapore (to M.A.M.v.S. and E.Y.T.), the Biomedical Research Council Singapore (to M.A.M.v.S.), the Agency for Science, Technology and Research (A*STAR Research Attachment Programme to I.J.H.M.d.V.), the Wellcome Trust (DGEM to M.A.M.v.S. and B.J.C.), Tenovus Scotland (T15/22 and T15/62 to M.A.M.v.S. and B.J.C.), the Victorian Government's Operational Infrastructure Support Program, and the Australian Government (NHMRC Senior Research Fellowship 110297 and NHMRC Program Grant 1054618 to M.B., NHMRC Career Development Fellowship GNT1032364 to P.J.L.). Funding to pay the Open Access publication charges for this article was provided by COAF (Charities Open Access Fund) awarded to the University of Dundee.