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

Autor: de Vos IJHM; Institute of Medical Biology (IMB), Agency for Science, Technology and Research (A*STAR), Singapore 138648, Singapore.; Department of Dermatology, Maastricht University Medical Center+, Maastricht 6202 AZ, The Netherlands.; School for Oncology and Developmental Biology (GROW), Maastricht University Medical Center+, Maastricht 6200 MD, The Netherlands., Tao EY; Institute of Medical Biology (IMB), Agency for Science, Technology and Research (A*STAR), Singapore 138648, Singapore., Ong SLM; Institute of Medical Biology (IMB), Agency for Science, Technology and Research (A*STAR), Singapore 138648, Singapore., Goggi JL; Singapore Bioimaging Consortium (SBIC), Agency for Science, Technology and Research (A*STAR), Singapore 138667, Singapore.; Department of Physiology, Yong Loo Lin School of Medicine, National University of Singapore (NUS), Singapore 117593, Singapore., Scerri T; Population Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, Parkville 3052, Australia.; Department of Medical Biology, University of Melbourne, Parkville 3052, Australia., Wilson GR; Bruce Lefroy Centre for Genetic Health Research, Murdoch Children's Research Institute, Parkville 3052, Australia.; Department of Paediatrics, The University of Melbourne, Parkville 3052, Australia., Low CGM; Institute of Medical Biology (IMB), Agency for Science, Technology and Research (A*STAR), Singapore 138648, Singapore., Wong ASW; Institute of Medical Biology (IMB), Agency for Science, Technology and Research (A*STAR), Singapore 138648, Singapore., Grussu D; Division of Cancer Research, School of Medicine, University of Dundee, Dundee DD1 9SY, UK., Stegmann APA; School for Oncology and Developmental Biology (GROW), Maastricht University Medical Center+, Maastricht 6200 MD, The Netherlands.; Department of Clinical Genetics, Maastricht University Medical Center+, Maastricht 6229 HX, The Netherlands., van Geel M; Department of Dermatology, Maastricht University Medical Center+, Maastricht 6202 AZ, The Netherlands.; School for Oncology and Developmental Biology (GROW), Maastricht University Medical Center+, Maastricht 6200 MD, The Netherlands.; Department of Clinical Genetics, Maastricht University Medical Center+, Maastricht 6229 HX, The Netherlands., Janssen R; Department of Dermatology, Maastricht University Medical Center+, Maastricht 6202 AZ, The Netherlands.; School for Oncology and Developmental Biology (GROW), Maastricht University Medical Center+, Maastricht 6200 MD, The Netherlands., Amor DJ; Bruce Lefroy Centre for Genetic Health Research, Murdoch Children's Research Institute, Parkville 3052, Australia.; Department of Paediatrics, The University of Melbourne, Parkville 3052, Australia., Bahlo M; Population Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, Parkville 3052, Australia.; Department of Medical Biology, University of Melbourne, Parkville 3052, Australia., Dunn NR; Institute of Medical Biology (IMB), Agency for Science, Technology and Research (A*STAR), Singapore 138648, Singapore.; Lee Kong Chian School of Medicine, Nanyang Technological University (NTU), Singapore 636921, Singapore., Carney TJ; Lee Kong Chian School of Medicine, Nanyang Technological University (NTU), Singapore 636921, Singapore.; Institute of Molecular and Cell Biology (IMCB), Agency for Science, Technology and Research (A*STAR), Singapore 138673, Singapore., Lockhart PJ; Bruce Lefroy Centre for Genetic Health Research, Murdoch Children's Research Institute, Parkville 3052, Australia.; Department of Paediatrics, The University of Melbourne, Parkville 3052, Australia., Coull BJ; Division of Cancer Research, School of Medicine, University of Dundee, Dundee DD1 9SY, UK., van Steensel MAM; Institute of Medical Biology (IMB), Agency for Science, Technology and Research (A*STAR), Singapore 138648, Singapore.; Division of Cancer Research, School of Medicine, University of Dundee, Dundee DD1 9SY, UK.; Lee Kong Chian School of Medicine, Nanyang Technological University (NTU), Singapore 636921, Singapore.

Publikováno v: Human molecular genetics [Hum Mol Genet] 2018 Aug 15; Vol. 27 (16), pp. 2775-2788.