P
Paul Coucke
Researcher at Ghent University
Publications - 238
Citations - 13452
Paul Coucke is an academic researcher from Ghent University. The author has contributed to research in topics: Pseudoxanthoma elasticum & Gene. The author has an hindex of 55, co-authored 212 publications receiving 11905 citations. Previous affiliations of Paul Coucke include Ghent University Hospital & Baylor College of Medicine.
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Journal ArticleDOI
Tissue-specific mosaicism for a lethal osteogenesis imperfecta COL1A1 mutation causes mild OI/EDS overlap syndrome.
Sofie Symoens,Wouter Steyaert,Lynn Demuynck,Anne De Paepe,Karin E. M. Diderich,Fransiska Malfait,Paul Coucke +6 more
TL;DR: A patient with clinical signs of Ehlers–Danlos syndrome is described, including fragile skin, easy bruising, recurrent luxations, and fractures resembling mild OI, which most likely can be explained by the mosaic state of the mutation.
Journal ArticleDOI
Marfan Syndrome and Related Heritable Thoracic Aortic Aneurysms and Dissections
Julie De Backer,Marjolijn Renard,Laurence Campens,Laura Muiño Mosquera,Anne De Paepe,Paul Coucke,Bert Callewaert,Yskert von Kodolitsch +7 more
TL;DR: This overview aims to address a number of recent insights and developments regarding clinical aspects, etiology, and treatment of Heritable Thoracic Aortic Disease (H-TAD).
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Loss of type I collagen telopeptide lysyl hydroxylation causes musculoskeletal abnormalities in a zebrafish model of Bruck syndrome
Andy Willaert,Charlotte Ghistelinck,P. Eckhard Witten,Ann Huysseune,Pascal Simoens,Sofie Symoens,Fransiska Malfait,Muynck Amelie De,Paepe Anne De,Ronald Y. Kwon,Mary Ann Weiss,David E. Eyre,Paul Coucke +12 more
Journal ArticleDOI
Future perspectives of genome-scale sequencing.
Wouter Steyaert,Steven Callens,Paul Coucke,Bart Dermaut,Dimitri Hemelsoet,Wim Terryn,Bruce Poppe +6 more
TL;DR: With techniques such as whole exome and whole genome sequencing, the diagnostic yield increases serving both the patient and the health care system, guaranteeing a further improvement of the quality of genetic testing.
Journal ArticleDOI
GLUT10-Lacking in Arterial Tortuosity Syndrome-Is Localized to the Endoplasmic Reticulum of Human Fibroblasts.
Alessandra Gamberucci,Paola Marcolongo,Csilla E. Németh,Nicoletta Zoppi,András Szarka,Nicola Chiarelli,Tamás Hegedűs,Marco Ritelli,Giulia Carini,Andy Willaert,Bert Callewaert,Paul Coucke,Angiolo Benedetti,Éva Margittai,Rosella Fulceri,Gábor Bánhegyi,Marina Colombi +16 more
TL;DR: The results demonstrate that GLUT10 is present in the ER, and expresses a strict co-localization with the ER marker protein disulfide isomerase (PDI).