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

doi:10.1093/hmg/ddy168

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 journal › Article › Academic › peer-review

Original language	English
Pages (from-to)	2775-2788
Number of pages	14
Journal	Human Molecular Genetics
Volume	27
Issue number	16
DOIs	https://doi.org/10.1093/hmg/ddy168
Publication status	Published - 15 Aug 2018

Keywords

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

Access to Document

10.1093/hmg/ddy168

https://doi.org/10.1093/hmg/ddy168

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

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. / Functional analysis of a hypomorphic allele shows that MMP14 catalytic activity is the prime determinant of the Winchester syndrome phenotype. In: Human Molecular Genetics. 2018 ; Vol. 27, No. 16. pp. 2775-2788.

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

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

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

year = "2018",

month = aug,

day = "15",

doi = "10.1093/hmg/ddy168",

language = "English",

volume = "27",

pages = "2775--2788",

journal = "Human Molecular Genetics",

issn = "0964-6906",

publisher = "Oxford University Press",

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}

de Vos, IJHM, Tao, EY, Ong, SLM, Goggi, JL, Scerri, T, Wilson, GR, Low, CGM, Wong, ASW, Grussu, D, Stegmann, APA , van Geel, M, Janssen, R, Amor, DJ, Bahlo, M, Dunn, NR, Carney, TJ, Lockhart, PJ, Coull, BJ & van Steensel, MAM 2018, 'Functional analysis of a hypomorphic allele shows that MMP14 catalytic activity is the prime determinant of the Winchester syndrome phenotype', Human Molecular Genetics, vol. 27, no. 16, pp. 2775-2788. https://doi.org/10.1093/hmg/ddy168

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.

In: Human Molecular Genetics, Vol. 27, No. 16, 15.08.2018, p. 2775-2788.

Research output: Contribution to journal › Article › Academic › peer-review

TY - JOUR

T1 - Functional analysis of a hypomorphic allele shows that MMP14 catalytic activity is the prime determinant of the Winchester syndrome phenotype

AU - de Vos, Ivo J. H. M.

AU - Tao, Evelyn Yaqiong

AU - Ong, Sheena Li Ming

AU - Goggi, Julian L.

AU - Scerri, Thomas

AU - Wilson, Gabrielle R.

AU - Low, Chernis Guai Mun

AU - Wong, Arnette Shi Wei

AU - Grussu, Dominic

AU - Stegmann, Alexander P. A.

AU - van Geel, Michel

AU - Janssen, Renske

AU - Amor, David J.

AU - Bahlo, Melanie

AU - Dunn, Norris R.

AU - Carney, Thomas J.

AU - Lockhart, Paul J.

AU - Coull, Barry J.

AU - van Steensel, Maurice A. M.

PY - 2018/8/15

Y1 - 2018/8/15

KW - CARDIO-SKELETAL SYNDROME

KW - ZINC-FINGER TARGETER

KW - CELL-MIGRATION

KW - 1-MATRIX METALLOPROTEINASE

KW - MULTICENTRIC OSTEOLYSIS

KW - MEMBRANE

KW - MT1-MMP

KW - ZEBRAFISH

KW - MUTATION

KW - DISEASE

U2 - 10.1093/hmg/ddy168

DO - 10.1093/hmg/ddy168

M3 - Article

VL - 27

SP - 2775

EP - 2788

JO - Human Molecular Genetics

JF - Human Molecular Genetics

SN - 0964-6906

IS - 16

ER -