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
Recurrent Mutation in the First Zinc Finger of the Orphan Nuclear Receptor NR2E3 Causes Autosomal Dominant Retinitis Pigmentosa
Frauke Coppieters,Bart P. Leroy,Diane Beysen,Jan Hellemans,Karolien De Bosscher,Guy Haegeman,Kirsten Robberecht,Wim Wuyts,Paul Coucke,Elfride De Baere +9 more
TL;DR: A different pathogenetic mechanism is proposed for these distinct dominant and recessive phenotypes, which may be attributed to the dual key role of NR2E3 in the regulation of photoreceptor-specific genes during rod development and maintenance.
Journal ArticleDOI
Total absence of the alpha2(I) chain of collagen type I causes a rare form of Ehlers-Danlos syndrome with hypermobility and propensity to cardiac valvular problems.
TL;DR: Biochemical analysis of collagens extracted from skin fibroblasts is a powerful tool to detect the subset of patients with complete absence of proα2(I) collagen chains, and in these patients, careful cardiac follow up with ultrasonography is highly recommended because of the risk for cardiac valvular problems in adulthood.
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A mutation update on the LDS‐associated genes TGFB2/3 and SMAD2/3
Dorien Schepers,Giada Tortora,Giada Tortora,Hiroko Morisaki,Gretchen MacCarrick,Mark E. Lindsay,David Liang,Sarju G. Mehta,Jennifer Hague,Judith M.A. Verhagen,Ingrid M.B.H. van de Laar,Marja W. Wessels,Y. Detisch,Mieke M. van Haelst,Annette F. Baas,Klaske D. Lichtenbelt,Kees P.J. Braun,Denise van der Linde,Jolien W. Roos-Hesselink,George McGillivray,Josephina A.N. Meester,Isabelle Maystadt,Paul Coucke,Elie El-Khoury,Sandhya Parkash,Birgitte Rode Diness,Lotte Risom,Ingrid Scurr,Yvonne Hilhorst-Hofstee,Takayuki Morisaki,Julie Richer,Julie Désir,Marlies Kempers,Andrea L. Rideout,Gabrielle Horne,Christopher P. Bennett,Elisa Rahikkala,Geert Vandeweyer,Maaike Alaerts,Aline Verstraeten,Hal Dietz,Lut Van Laer,Bart Loeys,Bart Loeys +43 more
TL;DR: The clinical manifestations of LDS clearly indicates that LDS concerns a disorder with a broad phenotypical spectrum that is still emerging as more patients will be identified, and the role of disturbed TGF‐β signaling in LDS pathogenesis is emphasized.
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A Mutation in CABP2, Expressed in Cochlear Hair Cells, Causes Autosomal-Recessive Hearing Impairment
Isabelle Schrauwen,Sarah Helfmann,Akira Inagaki,Friederike Predoehl,Mohammad Amin Tabatabaiefar,Mohammad Amin Tabatabaiefar,Maria Magdalena Picher,Manou Sommen,Celia Zazo Seco,Jaap Oostrik,Hannie Kremer,Annelies Dheedene,Charlotte Claes,Erik Fransen,Morteza Hashemzadeh Chaleshtori,Paul Coucke,Amy S. Lee,Tobias Moser,Guy Van Camp +18 more
TL;DR: It is shown that genetic defects in CABP2 cause moderate-to-severe sensorineural hearing impairment and might cause a hypofunctional CaBP2 defective in Ca(2+) sensing and effector regulation in the inner ear.
Journal ArticleDOI
The new Ghent criteria for Marfan syndrome: what do they change?
Laurence Faivre,Gwenaëlle Collod-Béroud,Lesley C. Adès,Lesley C. Adès,Eloisa Arbustini,Anne H. Child,Bert Callewaert,Bart Loeys,Christine Binquet,Elodie Gautier,Karin Mayer,Mine Arslan-Kirchner,Maurizia Grasso,Christophe Béroud,Dalil Hamroun,Claire Bonithon-Kopp,H. Plauchu,Peter N. Robinson,J. De Backer,Paul Coucke,Uta Francke,O Bouchot,Jean-Eric Wolf,Chantal Stheneur,Nadine Hanna,Delphine Detaint,A. De Paepe,Catherine Boileau,Guillaume Jondeau +28 more
TL;DR: The new Ghent criteria for Marfan syndrome: what do they change?