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Items: 3

1.
GLUT10 deficiency leads to oxidative stress and non-canonical αvβ3 integrin-mediated TGFβ signalling associated with extracellular matrix disarray in arterial tortuosity syndrome skin fibroblasts
Nicoletta Zoppi, Nicola Chiarelli, Valeria Cinquina, Marco Ritelli, Marina Colombi
Hum Mol Genet. 2015 Dec 1; 24(23): 6769–6787. Published online 2015 Sep 16. doi: 10.1093/hmg/ddv382
PMCID:
PMC4634379
AbstractArticlePDF–1.2M
2.
GLUT10 is required for the development of the cardiovascular system and the notochord and connects mitochondrial function to TGFβ signaling
Andy Willaert, Sandeep Khatri, Bert L. Callewaert, Paul J. Coucke, Seth D. Crosby, Joseph G. H. Lee, Elaine C. Davis, Sruti Shiva, Michael Tsang, Anne De Paepe, Zsolt Urban
Hum Mol Genet. 2012 Mar 15; 21(6): 1248–1259. Published online 2011 Nov 24. doi: 10.1093/hmg/ddr555
PMCID:
PMC3284116
AbstractArticlePDF–455K
3.
Homozygosity mapping of a gene for arterial tortuosity syndrome to chromosome 20q13
P Coucke, M Wessels, P Van Acker, R Gardella, S Barlati, P Willems, M Colombi, A De Paepe
J Med Genet. 2003 Oct; 40(10): 747–751. doi: 10.1136/jmg.40.10.747
PMCID:
PMC1735278
SummaryPDF–365K

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