Cell differentiation and matrix organization are differentially affected during bone formation in osteogenesis imperfecta zebrafish models with different genetic defects impacting collagen type I structure
Daponte, Valentina, Tonelli, Francesca, Masiero, Cecilia, Syx, Delfien, Exbrayat-Héritier, Chloé, Biggiogera, Marco, Willaert, Andy, Rossi, Antonio, Coucke, Paul J., Ruggiero, Florence, Forlino, Antonella
Published in Matrix biology (01.08.2023)
Published in Matrix biology (01.08.2023)
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CRISPR/Cas9-mediated homology-directed repair by ssODNs in zebrafish induces complex mutational patterns resulting from genomic integration of repair-template fragments
Boel, Annekatrien, De Saffel, Hanna, Steyaert, Wouter, Callewaert, Bert, De Paepe, Anne, Coucke, Paul J, Willaert, Andy
Published in Disease models & mechanisms (01.10.2018)
Published in Disease models & mechanisms (01.10.2018)
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Zebrafish: A Resourceful Vertebrate Model to Investigate Skeletal Disorders
Tonelli, Francesca, Bek, Jan Willem, Besio, Roberta, De Clercq, Adelbert, Leoni, Laura, Salmon, Phil, Coucke, Paul J, Willaert, Andy, Forlino, Antonella
Published in Frontiers in endocrinology (Lausanne) (31.07.2020)
Published in Frontiers in endocrinology (Lausanne) (31.07.2020)
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Deficiency for the ER-stress transducer OASIS causes severe recessive osteogenesis imperfecta in humans
Symoens, Sofie, Malfait, Fransiska, D'hondt, Sanne, Callewaert, Bert, Dheedene, Annelies, Steyaert, Wouter, Bächinger, Hans Peter, De Paepe, Anne, Kayserili, Hulya, Coucke, Paul J
Published in Orphanet journal of rare diseases (30.09.2013)
Published in Orphanet journal of rare diseases (30.09.2013)
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Zebrafish type I collagen mutants faithfully recapitulate human type I collagenopathies
Gistelinck, Charlotte, Kwon, Ronald Y., Malfait, Fransiska, Symoens, Sofie, Harris, Matthew P., Henke, Katrin, Hawkins, Michael B., Fisher, Shannon, Sips, Patrick, Guillemyn, Brecht, Bek, Jan Willem, Vermassen, Petra, De Saffel, Hanna, Witten, Paul Eckhard, Weis, MaryAnn, De Paepe, Anne, Eyre, David R., Willaert, Andy, Coucke, Paul J.
Published in Proceedings of the National Academy of Sciences - PNAS (21.08.2018)
Published in Proceedings of the National Academy of Sciences - PNAS (21.08.2018)
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Clinical and subclinical findings in heterozygous ABCC6 carriers: results from a Belgian cohort and clinical practice guidelines
Nollet, Lukas, Campens, Laurence, De Zaeytijd, Julie, Leroy, Bart, Hemelsoet, Dimitri, Coucke, Paul J, Vanakker, Olivier M
Published in Journal of medical genetics (01.05.2022)
Published in Journal of medical genetics (01.05.2022)
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Lrp5 Mutant and Crispant Zebrafish Faithfully Model Human Osteoporosis, Establishing the Zebrafish as a Platform for CRISPR‐Based Functional Screening of Osteoporosis Candidate Genes
Bek, Jan Willem, Shochat, Chen, De Clercq, Adelbert, De Saffel, Hanna, Boel, Annekatrien, Metz, Juriaan, Rodenburg, Frans, Karasik, David, Willaert, Andy, Coucke, Paul J
Published in Journal of bone and mineral research (01.09.2021)
Published in Journal of bone and mineral research (01.09.2021)
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Loss of phospholipase PLAAT3 causes a mixed lipodystrophic and neurological syndrome due to impaired PPARγ signaling
Schuermans, Nika, El Chehadeh, Salima, Hemelsoet, Dimitri, Gautheron, Jérémie, Vantyghem, Marie-Christine, Nouioua, Sonia, Tazir, Meriem, Vigouroux, Corinne, Auclair, Martine, Bogaert, Elke, Dufour, Sara, Okawa, Fumiya, Hilbert, Pascale, Van Doninck, Nike, Taquet, Marie-Caroline, Rosseel, Toon, De Clercq, Griet, Debackere, Elke, Van Haverbeke, Carole, Cherif, Ferroudja Ramdane, Urtizberea, Jon Andoni, Chanson, Jean-Baptiste, Funalot, Benoit, Authier, François-Jérôme, Kaya, Sabine, Terryn, Wim, Callens, Steven, Depypere, Bernard, Van Dorpe, Jo, Poppe, Bruce, Impens, Francis, Mizushima, Noboru, Depienne, Christel, Jéru, Isabelle, Dermaut, Bart
Published in Nature genetics (01.11.2023)
Published in Nature genetics (01.11.2023)
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A homozygous pathogenic missense variant broadens the phenotypic and mutational spectrum of CREB3L1-related osteogenesis imperfecta
Guillemyn, Brecht, Kayserili, Hülya, Demuynck, Lynn, Sips, Patrick, De Paepe, Anne, Syx, Delfien, Coucke, Paul J, Malfait, Fransiska, Symoens, Sofie
Published in Human molecular genetics (01.06.2019)
Published in Human molecular genetics (01.06.2019)
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Expressed repeat elements improve RT-qPCR normalization across a wide range of zebrafish gene expression studies
Vanhauwaert, Suzanne, Van Peer, Gert, Rihani, Ali, Janssens, Els, Rondou, Pieter, Lefever, Steve, De Paepe, Anne, Coucke, Paul J, Speleman, Frank, Vandesompele, Jo, Willaert, Andy
Published in PloS one (13.10.2014)
Published in PloS one (13.10.2014)
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G Protein-Coupled Receptor Kinase 6 (GRK6) Regulation of Insulin Processing and Secretion
Varney, Matthew J, Steyaert, Wouter, Coucke, Paul J, Delanghe, Joris R, Benovic, Jeffrey L
Published in The FASEB journal (01.05.2022)
Published in The FASEB journal (01.05.2022)
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G protein–coupled receptor kinase 6 (GRK6) regulates insulin processing and secretion via effects on proinsulin conversion to insulin
Varney, Matthew J., Steyaert, Wouter, Coucke, Paul J., Delanghe, Joris R., Uehling, David E., Joseph, Babu, Marcellus, Richard, Al-awar, Rima, Benovic, Jeffrey L.
Published in The Journal of biological chemistry (01.10.2022)
Published in The Journal of biological chemistry (01.10.2022)
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Journal Article
Loss of Type I Collagen Telopeptide Lysyl Hydroxylation Causes Musculoskeletal Abnormalities in a Zebrafish Model of Bruck Syndrome
Gistelinck, Charlotte, Witten, Paul Eckhard, Huysseune, Ann, Symoens, Sofie, Malfait, Fransiska, Larionova, Daria, Simoens, Pascal, Dierick, Manuel, Van Hoorebeke, Luc, De Paepe, Anne, Kwon, Ronald Y, Weis, MaryAnn, Eyre, David R, Willaert, Andy, Coucke, Paul J
Published in Journal of bone and mineral research (01.11.2016)
Published in Journal of bone and mineral research (01.11.2016)
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RNF216 mutations as a novel cause of autosomal recessive Huntington-like disorder
Santens, Patrick, Van Damme, Tim, Steyaert, Wouter, Willaert, Andy, Sablonnière, Bernard, De Paepe, Anne, Coucke, Paul J, Dermaut, Bart
Published in Neurology (28.04.2015)
Published in Neurology (28.04.2015)
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A tapt1 knock-out zebrafish line with aberrant lens development and impaired vision models human early-onset cataract
Jarayseh, Tamara, Guillemyn, Brecht, De Saffel, Hanna, Bek, Jan Willem, Syx, Delfien, Symoens, Sofie, Gansemans, Yannick, Van Nieuwerburgh, Filip, Jagadeesh, Sujatha, Raja, Jayarekha, Malfait, Fransiska, Coucke, Paul J., De Clercq, Adelbert, Willaert, Andy
Published in Human genetics (01.03.2023)
Published in Human genetics (01.03.2023)
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Phenotypic spectrum of the SMAD3-related aneurysms–osteoarthritis syndrome
van de Laar, Ingrid M B H, van der Linde, Denise, Oei, Edwin H G, Bos, Pieter K, Bessems, Johannes H, Bierma-Zeinstra, Sita M, van Meer, Belle L, Pals, Gerard, Oldenburg, Rogier A, Bekkers, Jos A, Moelker, Adriaan, de Graaf, Bianca M, Matyas, Gabor, Frohn-Mulder, Ingrid M E, Timmermans, Janneke, Hilhorst-Hofstee, Yvonne, Cobben, Jan M, Bruggenwirth, Hennie T, van Laer, Lut, Loeys, Bart, De Backer, Julie, Coucke, Paul J, Dietz, Harry C, Willems, Patrick J, Oostra, Ben A, De Paepe, Anne, Roos-Hesselink, Jolien W, Bertoli-Avella, Aida M, Wessels, Marja W
Published in Journal of medical genetics (01.01.2012)
Published in Journal of medical genetics (01.01.2012)
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Journal Article
Reassessment of causality of ABCC6 missense variants associated with pseudoxanthoma elasticum based on Sherloc
Verschuere, Shana, Navassiolava, Nastassia, Martin, Ludovic, Nevalainen, Pasi I., Coucke, Paul J., Vanakker, Olivier M.
Published in Genetics in medicine (01.01.2021)
Published in Genetics in medicine (01.01.2021)
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Journal Article
Aggressive Cardiovascular Phenotype of Aneurysms-Osteoarthritis Syndrome Caused by Pathogenic SMAD3 Variants
van der Linde, Denise, MSc, van de Laar, Ingrid M.B.H., MD, Bertoli-Avella, Aida M., MD, PhD, Oldenburg, Rogier A., MD, PhD, Bekkers, Jos A., MD, Mattace-Raso, Francesco U.S., MD, PhD, van den Meiracker, Anton H., MD, PhD, Moelker, Adriaan, MD, PhD, van Kooten, Fop, MD, PhD, Frohn-Mulder, Ingrid M.E., MD, Timmermans, Janneke, MD, Moltzer, Els, PhD, Cobben, Jan M., MD, PhD, van Laer, Lut, PhD, Loeys, Bart, MD, PhD, De Backer, Julie, MD, PhD, Coucke, Paul J., PhD, De Paepe, Anne, MD, PhD, Hilhorst-Hofstee, Yvonne, MD, Wessels, Marja W., MD, PhD, Roos-Hesselink, Jolien W., MD, PhD
Published in Journal of the American College of Cardiology (31.07.2012)
Published in Journal of the American College of Cardiology (31.07.2012)
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