Functional analysis of a hypomorphic allele shows that MMP14 catalytic activity is the prime determinant of the Winchester syndrome phenotype-Reference-Cited by-同舟云学术

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

Published:2018-05-08 Issue:16 Volume:27 Page:2775-2788
ISSN:0964-6906
Container-title:Human Molecular Genetics
language:en
Short-container-title:

Author:

de Vos Ivo J H M¹²³,Tao Evelyn Yaqiong¹,Ong Sheena Li Ming¹,Goggi Julian L⁴⁵,Scerri Thomas⁶⁷,Wilson Gabrielle R⁸⁹,Low Chernis Guai Mun¹,Wong Arnette Shi Wei¹,Grussu Dominic¹⁰,Stegmann Alexander P A³¹¹,van Geel Michel²³¹¹,Janssen Renske²³,Amor David J⁸⁹,Bahlo Melanie⁶⁷,Dunn Norris R¹¹²,Carney Thomas J¹²¹³,Lockhart Paul J⁸⁹,Coull Barry J¹⁰,van Steensel Maurice A M¹¹⁰¹²

Affiliation:

1. Institute of Medical Biology (IMB), Agency for Science, Technology and Research (A*STAR), Singapore 138648, Singapore

2. Department of Dermatology, Maastricht University Medical Center+, Maastricht 6202 AZ, The Netherlands

3. School for Oncology and Developmental Biology (GROW), Maastricht University Medical Center+, Maastricht 6200 MD, The Netherlands

4. Singapore Bioimaging Consortium (SBIC), Agency for Science, Technology and Research (A*STAR), Singapore 138667, Singapore

5. Department of Physiology, Yong Loo Lin School of Medicine, National University of Singapore (NUS), Singapore 117593, Singapore

6. Population Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, Parkville 3052, Australia

7. Department of Medical Biology, University of Melbourne, Parkville 3052, Australia

8. Bruce Lefroy Centre for Genetic Health Research, Murdoch Children’s Research Institute, Parkville 3052, Australia

9. Department of Paediatrics, The University of Melbourne, Parkville 3052, Australia

10. Division of Cancer Research, School of Medicine, University of Dundee, Dundee DD1 9SY, UK

11. Department of Clinical Genetics, Maastricht University Medical Center+, Maastricht 6229 HX, The Netherlands

12. Lee Kong Chian School of Medicine, Nanyang Technological University (NTU), Singapore 636921, Singapore

13. Institute of Molecular and Cell Biology (IMCB), Agency for Science, Technology and Research (A*STAR), Singapore 138673, Singapore

Funder

Skin Research Institute of Singapore

Biomedical Research Council Singapore

Agency for Science, Technology and Research

Wellcome Trust

Tenovus Scotland

Victorian Government’s Operational Infrastructure Support Program

Australian Government

NHMRC Senior Research Fellowship

NHMRC Program

NHMRC Career Development Fellowship

Publisher

Oxford University Press (OUP)

Subject

Genetics(clinical),Genetics,Molecular Biology,General Medicine

Link

http://academic.oup.com/hmg/article-pdf/27/16/2775/25428236/ddy168.pdf

Reference56 articles.

1. Two Dutch brothers with Borrone dermato-cardio-skeletal syndrome;van Steensel;Am. J. Med. Genet. A,2007

2. New multisystemic disorder involving heart valves, skin, bones, and joints in two brothers;Borrone;Am. J. Med. Genet,1993

3. Mutations in SH3PXD2B cause Borrone dermato-cardio-skeletal syndrome;Wilson;Eur. J. Med. Genet,2014

4. Disruption of the podosome adaptor protein TKS4 (SH3PXD2B) causes the skeletal dysplasia, eye, and cardiac abnormalities of Frank-Ter Haar syndrome;Iqbal;Am. J. Hum. Genet,2010

5. The novel adaptor protein Tks4 (SH3PXD2B) is required for functional podosome formation;Buschman;Mol. Biol. Cell,2009

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