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Article: Overgrowth with increased proliferation of fibroblast and matrix metalloproteinase activity related to reduced TIMP1: a newly recognized syndrome?

TitleOvergrowth with increased proliferation of fibroblast and matrix metalloproteinase activity related to reduced TIMP1: a newly recognized syndrome?
Authors
KeywordsMetalloproteinase (MMP)
Overgrowth
Tissue inhibitors of metalloproteinase (TIMP)
Chondroitin sulfate
Collagen type 1
Chondroitin sulfate
Doxycycline
Enoxaparin
Nitric oxide
Stromelysin
Tissue inhibitor of metalloproteinase 1
Issue Date2012
PublisherJohn Wiley & Sons, Inc. The Journal's web site is located at http://www3.interscience.wiley.com/journal/117928899/grouphome/home.html
Citation
American Journal of Medical Genetics. Part A, 2012, v. 158A n. 10, p. 2373-2381 How to Cite?
AbstractWe report on a child with prenatal onset of overgrowth associated with thick, excessive wrinkled skin and other abnormalities including cleft palate, Chiari malformation and polymicrogyria. His clinical features do not resemble any of the known reported overgrowth syndromes. Genetic evaluations, including karyotype, oligoarray, methylation-sensitive multiplex ligation-dependent probe amplification (MLPA) for 11p11.2 region, CDKN1C sequencing, GPC3 sequencing and dosage analysis, and HRAS sequencing, have been un-revealing. Immunohistochemistry done on the patient's cultured skin fibroblasts showed normally assembled elastic fibers and normal pattern of chondroitin sulfate deposition with defective deposition of Collagen I fibers. In addition, there were high levels of immuno-detectable metalloproteinase 3 (MMP3) and undetectable tissue inhibitor of metalloproteinase 1 (TIMP1). The defective collagen deposition in the fibroblast culture could be reversed by the broad spectrum MMP inhibitor, doxycycline. We also present evidence that the fibroblasts of this patient have an increased rate of cellular proliferation. We propose that this is a previously unrecognized overgrowth syndrome associated with increased cellular proliferation and defective collagen I deposition due to an imbalance between MMP and TIMP in fibroblasts. © 2012 Wiley Periodicals, Inc.
Persistent Identifierhttp://hdl.handle.net/10722/152804
ISSN
2015 Impact Factor: 2.082
2015 SCImago Journal Rankings: 1.115
ISI Accession Number ID

 

DC FieldValueLanguage
dc.contributor.authorChung, BHYen_US
dc.contributor.authorHinek, Aen_US
dc.contributor.authorKeating, Sen_US
dc.contributor.authorWeksberg, Ren_US
dc.contributor.authorShah, Ven_US
dc.contributor.authorBlaser, Sen_US
dc.contributor.authorHawkins, Cen_US
dc.contributor.authorChitayat, Den_US
dc.date.accessioned2012-07-16T09:48:42Z-
dc.date.available2012-07-16T09:48:42Z-
dc.date.issued2012en_US
dc.identifier.citationAmerican Journal of Medical Genetics. Part A, 2012, v. 158A n. 10, p. 2373-2381en_US
dc.identifier.issn1552-4825-
dc.identifier.urihttp://hdl.handle.net/10722/152804-
dc.description.abstractWe report on a child with prenatal onset of overgrowth associated with thick, excessive wrinkled skin and other abnormalities including cleft palate, Chiari malformation and polymicrogyria. His clinical features do not resemble any of the known reported overgrowth syndromes. Genetic evaluations, including karyotype, oligoarray, methylation-sensitive multiplex ligation-dependent probe amplification (MLPA) for 11p11.2 region, CDKN1C sequencing, GPC3 sequencing and dosage analysis, and HRAS sequencing, have been un-revealing. Immunohistochemistry done on the patient's cultured skin fibroblasts showed normally assembled elastic fibers and normal pattern of chondroitin sulfate deposition with defective deposition of Collagen I fibers. In addition, there were high levels of immuno-detectable metalloproteinase 3 (MMP3) and undetectable tissue inhibitor of metalloproteinase 1 (TIMP1). The defective collagen deposition in the fibroblast culture could be reversed by the broad spectrum MMP inhibitor, doxycycline. We also present evidence that the fibroblasts of this patient have an increased rate of cellular proliferation. We propose that this is a previously unrecognized overgrowth syndrome associated with increased cellular proliferation and defective collagen I deposition due to an imbalance between MMP and TIMP in fibroblasts. © 2012 Wiley Periodicals, Inc.-
dc.languageengen_US
dc.publisherJohn Wiley & Sons, Inc. The Journal's web site is located at http://www3.interscience.wiley.com/journal/117928899/grouphome/home.html-
dc.relation.ispartofAmerican Journal of Medical Genetics. Part Aen_US
dc.rightsAmerican Journal of Medical Genetics. Part A. Copyright © John Wiley & Sons, Inc.-
dc.subjectMetalloproteinase (MMP)-
dc.subjectOvergrowth-
dc.subjectTissue inhibitors of metalloproteinase (TIMP)-
dc.subjectChondroitin sulfate-
dc.subjectCollagen type 1-
dc.subjectChondroitin sulfate-
dc.subjectDoxycycline-
dc.subjectEnoxaparin-
dc.subjectNitric oxide-
dc.subjectStromelysin-
dc.subjectTissue inhibitor of metalloproteinase 1-
dc.titleOvergrowth with increased proliferation of fibroblast and matrix metalloproteinase activity related to reduced TIMP1: a newly recognized syndrome?en_US
dc.typeArticleen_US
dc.identifier.emailChung, BHY: bhychung@hku.hken_US
dc.identifier.emailChitayat, D: dchitayat@mtsinai.on.ca-
dc.identifier.authorityChung, BHY=rp00473en_US
dc.description.naturelink_to_subscribed_fulltext-
dc.identifier.doi10.1002/ajmg.a.35570-
dc.identifier.pmid22965799-
dc.identifier.scopuseid_2-s2.0-84866505194-
dc.identifier.hkuros201969en_US
dc.identifier.volume158A-
dc.identifier.issue10-
dc.identifier.spage2373-
dc.identifier.epage2381-
dc.identifier.eissn1552-4833-
dc.identifier.isiWOS:000310070700003-
dc.publisher.placeUnited States-

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