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
A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2
Bart Loeys,Junji Chen,Enid Neptune,Daniel P. Judge,Megan Podowski,Tammy M. Holm,Jennifer Meyers,Carmen C. Leitch,Nicholas Katsanis,Neda A. Sharifi,F Lauren Xu,Loretha Myers,Philip J. Spevak,Duke E. Cameron,Julie De Backer,Jan Hellemans,Yan Chen,Elaine C. Davis,Catherine L. Webb,Wolfram Kress,Paul Coucke,Daniel B. Rifkin,Anne De Paepe,Harry C. Dietz +23 more
TL;DR: These data definitively implicate perturbation of TGFβ signaling in many common human phenotypes, including craniosynostosis, cleft palate, arterial aneurysms, congenital heart disease and mental retardation, and suggest that comprehensive mechanistic insight will require consideration of both primary and compensatory events.
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Aneurysm Syndromes Caused by Mutations in the TGF-β Receptor
Bart Loeys,Bart Loeys,Ulrike Schwarze,Tammy M. Holm,Bert Callewaert,George H. Thomas,George H. Thomas,Hariyadarshi Pannu,Julie De Backer,Gretchen L. Oswald,Sofie Symoens,Sylvie Manouvrier,Amy E. Roberts,Francesca Faravelli,M. Alba Greco,Reed E. Pyeritz,Dianna M. Milewicz,Paul Coucke,Duke E. Cameron,Alan C. Braverman,Peter H. Byers,Anne De Paepe,Harry C. Dietz,Harry C. Dietz +23 more
TL;DR: An additional cohort of 40 patients who had vascular Ehlers–Danlos syndrome without the characteristic type III collagen abnormalities or the craniofacial features of the Loeys–Dietz syndrome were screened and a mutation in TGFBR1 or TGF BR2 was found.
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Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans
Joan C. Marini,Antonella Forlino,Antonella Forlino,Wayne A. Cabral,Aileen M. Barnes,James D. San Antonio,Sarah A. Milgrom,James C. Hyland,Jarmo Körkkö,Darwin J. Prockop,Anne De Paepe,Paul Coucke,Sofie Symoens,Francis H. Glorieux,Peter J. Roughley,Alan M. Lund,Kaija Kuurila-Svahn,Heini Hartikka,Daniel H. Cohn,Deborah Krakow,Monica Mottes,Ulrike Schwarze,Diana Chen,Kathleen Yang,Christine D Kuslich,James Troendle,Raymond Dalgleish,Peter H. Byers +27 more
TL;DR: The data on genotype–phenotype relationships indicate that the two collagen chains play very different roles in matrix integrity and that phenotype depends on intracellular and extracellular events.
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Effect of mutation type and location on clinical outcome in 1,013 probands with marfan syndrome or related phenotypes and FBN1 mutations : An international study
Laurence Faivre,Gwenaëlle Collod-Béroud,Gwenaëlle Collod-Béroud,Bart Loeys,Anne H. Child,Christine Binquet,Elodie Gautier,Bert Callewaert,Eloisa Arbustini,Kenneth H. Mayer,Mine Arslan-Kirchner,A Kiotsekoglou,P Comeglio,Nicola Marziliano,Hal Dietz,Dorothy Halliday,Christophe Béroud,Christophe Béroud,Claire Bonithon-Kopp,Mireille Claustres,Christine Muti,H. Plauchu,Peter N. Robinson,Lesley C. Adès,Andrew Biggin,B. Benetts,Maggie Brett,Katherine Holman,J. De Backer,Paul Coucke,Uta Francke,A. De Paepe,Guillaume Jondeau,Catherine Boileau +33 more
TL;DR: In this paper, the authors investigated the correlation between the fibrillin-1 (FBN1) genotype and the nature and severity of the clinical phenotype, including skeletal, cardiovascular, ophthalmologic, skin, pulmonary, and dural.
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Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis.
Jan Hellemans,Olena Preobrazhenska,Andy Willaert,Philippe Debeer,Peter Verdonk,Teresa Costa,Katrien Janssens,Björn Menten,Nadine Van Roy,Stefan Vermeulen,Ravi Savarirayan,Wim Van Hul,Filip Vanhoenacker,Danny Huylebroeck,Anne De Paepe,Jean-Marie Naeyaert,Jo Vandesompele,Frank Speleman,Kristin Verschueren,Paul Coucke,Geert Mortier +20 more
TL;DR: In this study, LEMD3 interacted with BMP and activin-TGFβ receptor–activated Smads and antagonized both signaling pathways in human cells and interacted with XMAN1, the Xenopus laevis ortholog, which antagonizes BMP signaling during embryogenesis.