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Page 1
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: coucke p. Hum Mol Genet. 2020 Jun 3;29(9):1476-1488. doi: 10.1093/hmg/ddaa071. Hum Mol Genet. 2020. PMID: 32307537
Arterial Tortuosity Syndrome: An Ascorbate Compartmentalization Disorder?
Boel A, Veszelyi K, Németh CE, Beyens A, Willaert A, Coucke P, Callewaert B, Margittai É. Boel A, et al. Among authors: coucke p. Antioxid Redox Signal. 2021 Apr 10;34(11):875-889. doi: 10.1089/ars.2019.7843. Epub 2019 Nov 14. Antioxid Redox Signal. 2021. PMID: 31621376
Arterial tortuosity syndrome: 40 new families and literature review.
Beyens A, Albuisson J, Boel A, Al-Essa M, Al-Manea W, Bonnet D, Bostan O, Boute O, Busa T, Canham N, Cil E, Coucke PJ, Cousin MA, Dasouki M, De Backer J, De Paepe A, De Schepper S, De Silva D, Devriendt K, De Wandele I, Deyle DR, Dietz H, Dupuis-Girod S, Fontenot E, Fischer-Zirnsak B, Gezdirici A, Ghoumid J, Giuliano F, Diéz NB, Haider MZ, Hardin JS, Jeunemaitre X, Klee EW, Kornak U, Landecho MF, Legrand A, Loeys B, Lyonnet S, Michael H, Moceri P, Mohammed S, Muiño-Mosquera L, Nampoothiri S, Pichler K, Prescott K, Rajeb A, Ramos-Arroyo M, Rossi M, Salih M, Seidahmed MZ, Schaefer E, Steichen-Gersdorf E, Temel S, Uysal F, Vanhomwegen M, Van Laer L, Van Maldergem L, Warner D, Willaert A, Collins TR, Taylor A, Davis EC, Zarate Y, Callewaert B. Beyens A, et al. Among authors: coucke pj. Genet Med. 2018 Oct;20(10):1236-1245. doi: 10.1038/gim.2017.253. Epub 2018 Jan 11. Genet Med. 2018. PMID: 29323665 Free article.
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. Among authors: coucke pj. 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.
Glucose transporter type 10-lacking in arterial tortuosity syndrome-facilitates dehydroascorbic acid transport.
Németh CE, Marcolongo P, Gamberucci A, Fulceri R, Benedetti A, Zoppi N, Ritelli M, Chiarelli N, Colombi M, Willaert A, Callewaert BL, Coucke PJ, Gróf P, Nagy SK, Mészáros T, Bánhegyi G, Margittai É. Németh CE, et al. Among authors: coucke pj. FEBS Lett. 2016 Jun;590(11):1630-40. doi: 10.1002/1873-3468.12204. Epub 2016 May 27. FEBS Lett. 2016. PMID: 27153185 Free article.
GLUT10-Lacking in Arterial Tortuosity Syndrome-Is Localized to the Endoplasmic Reticulum of Human Fibroblasts.
Gamberucci A, Marcolongo P, Németh CE, Zoppi N, Szarka A, Chiarelli N, Hegedűs T, Ritelli M, Carini G, Willaert A, Callewaert BL, Coucke PJ, Benedetti A, Margittai É, Fulceri R, Bánhegyi G, Colombi M. Gamberucci A, et al. Among authors: coucke pj. Int J Mol Sci. 2017 Aug 22;18(8):1820. doi: 10.3390/ijms18081820. Int J Mol Sci. 2017. PMID: 28829359 Free PMC article.
Decreased Nuclear Ascorbate Accumulation Accompanied with Altered Genomic Methylation Pattern in Fibroblasts from Arterial Tortuosity Syndrome Patients.
Németh CE, Nemoda Z, Lőw P, Szabó P, Horváth EZ, Willaert A, Boel A, Callewaert BL, Coucke PJ, Colombi M, Bánhegyi G, Margittai É. Németh CE, et al. Among authors: coucke pj. Oxid Med Cell Longev. 2019 Jan 13;2019:8156592. doi: 10.1155/2019/8156592. eCollection 2019. Oxid Med Cell Longev. 2019. PMID: 30800210 Free PMC article.
Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families.
Callewaert BL, Willaert A, Kerstjens-Frederikse WS, De Backer J, Devriendt K, Albrecht B, Ramos-Arroyo MA, Doco-Fenzy M, Hennekam RC, Pyeritz RE, Krogmann ON, Gillessen-kaesbach G, Wakeling EL, Nik-zainal S, Francannet C, Mauran P, Booth C, Barrow M, Dekens R, Loeys BL, Coucke PJ, De Paepe AM. Callewaert BL, et al. Among authors: coucke pj. Hum Mutat. 2008 Jan;29(1):150-8. doi: 10.1002/humu.20623. Hum Mutat. 2008. PMID: 17935213
538 results