Bert L Callewaert
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Explore the profile of Bert L Callewaert including associated specialties, affiliations and a list of published articles.
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13
Citations
1549
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Recent Articles
1.
Brunet T, McWalter K, Mayerhanser K, Anbouba G, Armstrong-Javors A, Bader I, et al.
Genet Med
. 2020 Nov;
23(2):384-395.
PMID: 33173220
Purpose: We sought to delineate the genotypic and phenotypic spectrum of female and male individuals with X-linked, MSL3-related disorder (Basilicata-Akhtar syndrome). Methods: Twenty-five individuals (15 males, 10 females) with causative...
2.
Nemeth C, Nemoda Z, Low P, Szabo P, Horvath E, Willaert A, et al.
Oxid Med Cell Longev
. 2019 Feb;
2019:8156592.
PMID: 30800210
Ascorbate requiring Fe/2-oxoglutarate-dependent dioxygenases located in the nucleoplasm have been shown to participate in epigenetic regulation of gene expression via histone and DNA demethylation. Transport of dehydroascorbic acid is impaired...
3.
Renard M, Francis C, Ghosh R, Scott A, Witmer P, Ades L, et al.
J Am Coll Cardiol
. 2018 Aug;
72(6):605-615.
PMID: 30071989
Background: Thoracic aortic aneurysms progressively enlarge and predispose to acute aortic dissections. Up to 25% of individuals with thoracic aortic disease harbor an underlying Mendelian pathogenic variant. An evidence-based strategy...
4.
Kreps E, Van Herzeele I, Callewaert B
Ophthalmic Genet
. 2017 Nov;
39(2):268-270.
PMID: 29182461
Background: To describe ocular and vascular findings in a patient with multiple endocrine neoplasia type 2B. Materials And Methods: Case report of a 31-year-old male who was referred for ocular...
5.
Gamberucci A, Marcolongo P, Nemeth C, Zoppi N, Szarka A, Chiarelli N, et al.
Int J Mol Sci
. 2017 Aug;
18(8).
PMID: 28829359
GLUT10 belongs to a family of transporters that catalyze the uptake of sugars/polyols by facilitated diffusion. Loss-of-function mutations in the gene encoding GLUT10 are responsible for arterial tortuosity syndrome (ATS)....
6.
Nemeth C, Marcolongo P, Gamberucci A, Fulceri R, Benedetti A, Zoppi N, et al.
FEBS Lett
. 2016 May;
590(11):1630-40.
PMID: 27153185
Loss-of-function mutations in the gene encoding GLUT10 are responsible for arterial tortuosity syndrome (ATS), a rare connective tissue disorder. In this study GLUT10-mediated dehydroascorbic acid (DAA) transport was investigated, supposing...
7.
Hadj-Rabia S, Callewaert B, Bourrat E, Kempers M, Plomp A, Layet V, et al.
Orphanet J Rare Dis
. 2013 Feb;
8:36.
PMID: 23442826
Background: Elastin gene mutations have been associated with a variety of phenotypes. Autosomal dominant cutis laxa (ADCL) is a rare disorder that presents with lax skin, typical facial characteristics, inguinal...
8.
Willaert A, Khatri S, Callewaert B, Coucke P, Crosby S, Lee J, et al.
Hum Mol Genet
. 2011 Nov;
21(6):1248-59.
PMID: 22116938
Growth factor signaling results in dramatic phenotypic changes in cells, which require commensurate alterations in cellular metabolism. Mutations in SLC2A10/GLUT10, a member of the facilitative glucose transporter family, are associated...
9.
Loeys B, Dietz H, Braverman A, Callewaert B, De Backer J, Devereux R, et al.
J Med Genet
. 2010 Jul;
47(7):476-85.
PMID: 20591885
The diagnosis of Marfan syndrome (MFS) relies on defined clinical criteria (Ghent nosology), outlined by international expert opinion to facilitate accurate recognition of this genetic aneurysm syndrome and to improve...
10.
Renard M, Holm T, Veith R, Callewaert B, Ades L, Baspinar O, et al.
Eur J Hum Genet
. 2010 Apr;
18(8):895-901.
PMID: 20389311
Fibulin-4 is a member of the fibulin family, a group of extracellular matrix proteins prominently expressed in medial layers of large veins and arteries. Involvement of the FBLN4 gene in...