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Slc2a10 knock-out mice deficient in ascorbic acid synthesis recapitulate aspects of arterial tortuosity syndrome and display mitochondrial respiration defects.
Boel A, Burger J, Vanhomwegen M, Beyens A, Renard M, Barnhoorn S, Casteleyn C, Reinhardt DP, Descamps B, Vanhove C, van der Pluijm I, Coucke P, Willaert A, Essers J, Callewaert B. Boel A, et al. Among authors: renard m. Hum Mol Genet. 2020 Jun 3;29(9):1476-1488. doi: 10.1093/hmg/ddaa071. Hum Mol Genet. 2020. PMID: 32307537
Altered TGFbeta signaling and cardiovascular manifestations in patients with autosomal recessive cutis laxa type I caused by fibulin-4 deficiency.
Renard M, Holm T, Veith R, Callewaert BL, Adès LC, Baspinar O, Pickart A, Dasouki M, Hoyer J, Rauch A, Trapane P, Earing MG, Coucke PJ, Sakai LY, Dietz HC, De Paepe AM, Loeys BL. Renard M, et al. Eur J Hum Genet. 2010 Aug;18(8):895-901. doi: 10.1038/ejhg.2010.45. Epub 2010 Apr 14. Eur J Hum Genet. 2010. PMID: 20389311 Free PMC article.
Absence of cardiovascular manifestations in a haploinsufficient Tgfbr1 mouse model.
Renard M, Trachet B, Casteleyn C, Campens L, Cornillie P, Callewaert B, Deleye S, Vandeghinste B, van Heijningen PM, Dietz H, De Vos F, Essers J, Staelens S, Segers P, Loeys B, Coucke P, De Paepe A, De Backer J. Renard M, et al. PLoS One. 2014 Feb 24;9(2):e89749. doi: 10.1371/journal.pone.0089749. eCollection 2014. PLoS One. 2014. PMID: 24587008 Free PMC article.
Novel MYH11 and ACTA2 mutations reveal a role for enhanced TGFβ signaling in FTAAD.
Renard M, Callewaert B, Baetens M, Campens L, MacDermot K, Fryns JP, Bonduelle M, Dietz HC, Gaspar IM, Cavaco D, Stattin EL, Schrander-Stumpel C, Coucke P, Loeys B, De Paepe A, De Backer J. Renard M, et al. Int J Cardiol. 2013 May 10;165(2):314-21. doi: 10.1016/j.ijcard.2011.08.079. Epub 2011 Sep 19. Int J Cardiol. 2013. PMID: 21937134 Free PMC article.
503 results