Paul J Coucke
Affiliation: Ghent University
Coucke P, Willaert A, Wessels M, Callewaert B, Zoppi N, De Backer J, et al
. Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome. Nat Genet. 2006;38:452-7 pubmed
..Our data could provide new insight on the mechanisms causing microangiopathic changes associated with diabetes and suggest that therapeutic compounds intervening with TGFbeta signaling represent a new treatment strategy. ..
Symoens S, Malfait F, D hondt S, Callewaert B, Dheedene A, Steyaert W, et al
. Deficiency for the ER-stress transducer OASIS causes severe recessive osteogenesis imperfecta in humans. Orphanet J Rare Dis. 2013;8:154 pubmed publisher
..This is the first report linking CREB3L1 to human recessive OI, thereby expanding the OI gene spectrum. ..
Campens L, Callewaert B, MuiÃ±o Mosquera L, Renard M, Symoens S, De Paepe A, et al
. Gene panel sequencing in heritable thoracic aortic disorders and related entities - results of comprehensive testing in a cohort of 264 patients. Orphanet J Rare Dis. 2015;10:9 pubmed publisher
..Our observations emphasize the clinical overlap between patients harboring mutations in syndromic and nonsyndromic H-TAD related genes as well as within syndromic H-TAD entities, justifying a widespread application of this technique. ..
Vanakker O, Callewaert B, Malfait F, Coucke P. The Genetics of Soft Connective Tissue Disorders. Annu Rev Genomics Hum Genet. 2015;16:229-55 pubmed publisher
..Although difficult challenges remain, recent findings have expanded our pathophysiological understanding and may lead to targeted therapies in the near future. ..
Haddaji Mastouri M, De Coster P, Zaghabani A, Trabelsi S, May Y, Saad A, et al
. Characterization of a novel mutation in PAX9 gene in a family with non-syndromic dental agenesis. Arch Oral Biol. 2016;71:110-116 pubmed publisher
..It most likely results in nonsense mediated RNA decay and haploinsifficiency that reduce the transactivation capacity of PAX9. ..
Acke F, Malfait F, Vanakker O, Steyaert W, De Leeneer K, Mortier G, et al
. Novel pathogenic COL11A1/COL11A2 variants in Stickler syndrome detected by targeted NGS and exome sequencing. Mol Genet Metab. 2014;113:230-5 pubmed publisher
Symoens S, Barnes A, Gistelinck C, Malfait F, Guillemyn B, Steyaert W, et al
. Genetic Defects in TAPT1 Disrupt Ciliogenesis and Cause a Complex Lethal Osteochondrodysplasia. Am J Hum Genet. 2015;97:521-34 pubmed publisher
..Knockdown of tapt1b in zebrafish induces severe craniofacial cartilage malformations and delayed ossification, which is shown to be associated with aberrant differentiation of cranial neural crest cells. ..
Gamberucci A, Marcolongo P, NÃ©meth C, Zoppi N, Szarka A, Chiarelli N, et al
. GLUT10-Lacking in Arterial Tortuosity Syndrome-Is Localized to the Endoplasmic Reticulum of Human Fibroblasts. Int J Mol Sci. 2017;18: pubmed publisher
..Expression of exogenous, tagged GLUT10 in fibroblasts from an ATS patient revealed a strict co-localization with the ER marker protein disulfide isomerase (PDI). The results demonstrate that GLUT10 is present in the ER. ..