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Jansen-de Vries syndrome: Expansion of the PPM1D clinical and phenotypic spectrum in 34 families.
Wojcik MH, Srivastava S, Agrawal PB, Balci TB, Callewaert B, Calvo PL, Carli D, Caudle M, Colaiacovo S, Cross L, Demetriou K, Drazba K, Dutra-Clarke M, Edwards M, Genetti CA, Grange DK, Hickey SE, Isidor B, Küry S, Lachman HM, Lavillaureix A, Lyons MJ, Marcelis C, Marco EJ, Martinez-Agosto JA, Nowak C, Pizzol A, Planes M, Prijoles EJ, Riberi E, Rush ET, Russell BE, Sachdev R, Schmalz B, Shears D, Stevenson DA, Wilson K, Jansen S, de Vries BBA, Curry CJ. Wojcik MH, et al. Among authors: callewaert b. Am J Med Genet A. 2023 Jul;191(7):1900-1910. doi: 10.1002/ajmg.a.63226. Epub 2023 May 14. Am J Med Genet A. 2023. PMID: 37183572
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. 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.
Aneurysm syndromes caused by mutations in the TGF-beta receptor.
Loeys BL, Schwarze U, Holm T, Callewaert BL, Thomas GH, Pannu H, De Backer JF, Oswald GL, Symoens S, Manouvrier S, Roberts AE, Faravelli F, Greco MA, Pyeritz RE, Milewicz DM, Coucke PJ, Cameron DE, Braverman AC, Byers PH, De Paepe AM, Dietz HC. Loeys BL, et al. N Engl J Med. 2006 Aug 24;355(8):788-98. doi: 10.1056/NEJMoa055695. N Engl J Med. 2006. PMID: 16928994 Free article.
Proteolysis of enteric cell villin by Entamoeba histolytica cysteine proteinases.
Lauwaet T, Oliveira MJ, Callewaert B, De Bruyne G, Saelens X, Ankri S, Vandenabeele P, Mirelman D, Mareel M, Leroy A. Lauwaet T, et al. Among authors: callewaert b. J Biol Chem. 2003 Jun 20;278(25):22650-6. doi: 10.1074/jbc.M300142200. Epub 2003 Apr 10. J Biol Chem. 2003. PMID: 12690119 Free 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. 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.
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. Among authors: callewaert b. PLoS One. 2014 Feb 24;9(2):e89749. doi: 10.1371/journal.pone.0089749. eCollection 2014. PLoS One. 2014. PMID: 24587008 Free PMC article.
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: callewaert b. 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
159 results