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Functional analysis of a hypomorphic allele shows that MMP14 catalytic activity is the prime determinant of the Winchester syndrome phenotype.
de Vos, Ivo J H M; Tao, Evelyn Yaqiong; Ong, Sheena Li Ming; Goggi, Julian L; Scerri, Thomas; Wilson, Gabrielle R; Low, Chernis Guai Mun; Wong, Arnette Shi Wei; Grussu, Dominic; Stegmann, Alexander P A; van Geel, Michel; Janssen, Renske; Amor, David J; Bahlo, Melanie; Dunn, Norris R; Carney, Thomas J; Lockhart, Paul J; Coull, Barry J; van Steensel, Maurice A M.
Afiliação
  • de Vos IJHM; Institute of Medical Biology (IMB), Agency for Science, Technology and Research (A*STAR), Singapore 138648, Singapore.
  • Tao EY; Department of Dermatology, Maastricht University Medical Center+, Maastricht 6202 AZ, The Netherlands.
  • Ong SLM; School for Oncology and Developmental Biology (GROW), Maastricht University Medical Center+, Maastricht 6200 MD, The Netherlands.
  • Goggi JL; Institute of Medical Biology (IMB), Agency for Science, Technology and Research (A*STAR), Singapore 138648, Singapore.
  • Scerri T; Institute of Medical Biology (IMB), Agency for Science, Technology and Research (A*STAR), Singapore 138648, Singapore.
  • Wilson GR; Singapore Bioimaging Consortium (SBIC), Agency for Science, Technology and Research (A*STAR), Singapore 138667, Singapore.
  • Low CGM; Department of Physiology, Yong Loo Lin School of Medicine, National University of Singapore (NUS), Singapore 117593, Singapore.
  • Wong ASW; Population Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, Parkville 3052, Australia.
  • Grussu D; Department of Medical Biology, University of Melbourne, Parkville 3052, Australia.
  • Stegmann APA; Bruce Lefroy Centre for Genetic Health Research, Murdoch Children's Research Institute, Parkville 3052, Australia.
  • van Geel M; Department of Paediatrics, The University of Melbourne, Parkville 3052, Australia.
  • Janssen R; Institute of Medical Biology (IMB), Agency for Science, Technology and Research (A*STAR), Singapore 138648, Singapore.
  • Amor DJ; Institute of Medical Biology (IMB), Agency for Science, Technology and Research (A*STAR), Singapore 138648, Singapore.
  • Bahlo M; Division of Cancer Research, School of Medicine, University of Dundee, Dundee DD1 9SY, UK.
  • Dunn NR; School for Oncology and Developmental Biology (GROW), Maastricht University Medical Center+, Maastricht 6200 MD, The Netherlands.
  • Carney TJ; Department of Clinical Genetics, Maastricht University Medical Center+, Maastricht 6229 HX, The Netherlands.
  • Lockhart PJ; Department of Dermatology, Maastricht University Medical Center+, Maastricht 6202 AZ, The Netherlands.
  • Coull BJ; School for Oncology and Developmental Biology (GROW), Maastricht University Medical Center+, Maastricht 6200 MD, The Netherlands.
  • van Steensel MAM; Department of Clinical Genetics, Maastricht University Medical Center+, Maastricht 6229 HX, The Netherlands.
Hum Mol Genet ; 27(16): 2775-2788, 2018 08 15.
Article em En | MEDLINE | ID: mdl-29741626
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Osteólise / Osteoporose / Anormalidades Múltiplas / Anormalidades Craniofaciais / Contratura / Opacidade da Córnea / Metaloproteinase 14 da Matriz / Transtornos do Crescimento Limite: Animals / Humans Idioma: En Ano de publicação: 2018 Tipo de documento: Article
Texto completo
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Osteólise / Osteoporose / Anormalidades Múltiplas / Anormalidades Craniofaciais / Contratura / Opacidade da Córnea / Metaloproteinase 14 da Matriz / Transtornos do Crescimento Limite: Animals / Humans Idioma: En Ano de publicação: 2018 Tipo de documento: Article