Risultati della ricerca - Andy Willaert
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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 di Annekatrien Boel, Hanna De Saffel, Wouter Steyaert, Bert Callewaert, Anne De Paepe, Paul Coucke, Andy Willaert
Pubblicazione 2018Artigo -
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Multi-omics analysis in human retina uncovers ultraconserved cis-regulatory elements at rare eye disease loci di Víctor López-Soriano, Alfredo Dueñas Rey, Rajarshi Mukherjee, Chris F. Inglehearn, Frauke Coppieters, Miriam Bauwens, Andy Willaert, Elfride De Baere
Pubblicazione 2024Artigo -
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Recessive osteogenesis imperfecta caused by LEPRE1 mutations: clinical documentation and identification of the splice form responsible for prolyl 3-hydroxylation di Andy Willaert, Fransiska Malfait, Sofie Symoens, Kris Gevaert, Hülya Kayserili, André Mégarbané, Geert Mortier, JG Leroy, Paul Coucke, Anne De Paepe
Pubblicazione 2008Artigo -
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Cell differentiation and matrix organization are differentially affected during bone formation in osteogenesis imperfecta zebrafish models with different genetic defects impacting... di Valentina Daponte, Francesca Tonelli, Cecilia Masiero, Delfien Syx, Chloé Exbrayat-Heritier, Marco Biggiogera, Andy Willaert, Antonio Rossi, Paul Coucke, Florence Ruggiero, Antonella Forlino
Pubblicazione 2023Artigo -
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Expressed Repeat Elements Improve RT-qPCR Normalization across a Wide Range of Zebrafish Gene Expression Studies di Suzanne Vanhauwaert, Gert Van Peer, Ali Rihani, Els Janssens, Pieter Rondou, Steve Lefever, Anne De Paepe, Paul Coucke, Frank Speleman, Jo Vandesompele, Andy Willaert
Pubblicazione 2014Artigo -
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GLUT10 is required for the development of the cardiovascular system and the notochord and connects mitochondrial function to TGFβ signaling di Andy Willaert, Sandeep Khatri, Bert Callewaert, Paul Coucke, Seth D. Crosby, Joseph G. H. Lee, Elaine C. Davis, Sruti Shiva, Michael Tsang, Anne De Paepe, Zsolt Urbán
Pubblicazione 2011Artigo -
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CRISPR/Cas9 mediated knockout of rb1 and rbl1 leads to rapid and penetrant retinoblastoma development in Xenopus tropicalis di Thomas Naert, Robin Colpaert, Tom Van Nieuwenhuysen, Dionysia Dimitrakopoulou, Jannick Leœn, Jurgen Haustraete, Annekatrien Boel, Wouter Steyaert, Trees Lepez, Dieter Deforce, Andy Willaert, David Creytens, Kris Vleminckx
Pubblicazione 2016Artigo -
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Maximizing CRISPR/Cas9 phenotype penetrance applying predictive modeling of editing outcomes in Xenopus and zebrafish embryos di Thomas Naert, Dieter Tulkens, Nicole A. Edwards, Marjolein Carron, Nikko‐Ideen Shaidani, Marcin Wlizla, Annekatrien Boel, Suzan Demuynck, Marko E. Horb, Paul Coucke, Andy Willaert, Aaron M. Zorn, Kris Vleminckx
Pubblicazione 2020Artigo -
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Loss of Type I Collagen Telopeptide Lysyl Hydroxylation Causes Musculoskeletal Abnormalities in a Zebrafish Model of Bruck Syndrome di Charlotte Gistelinck, P. Eckhard Witten, Ann Huysseune, Sofie Symoens, Fransiska Malfait, Daria Larionova, Pascal Simoens, Manuel Dierick, Luc Van Hoorebeke, Anne De Paepe, Ronald Y. Kwon, MaryAnn Weis, David R. Eyre, Andy Willaert, Paul Coucke
Pubblicazione 2016Artigo -
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Defective Initiation of Glycosaminoglycan Synthesis due to B3GALT6 Mutations Causes a Pleiotropic Ehlers-Danlos-Syndrome-like Connective Tissue Disorder di Fransiska Malfait, Ariana Kariminejad, Tim Van Damme, Caroline Gauche, Delfien Syx, Faten Merhi‐Soussi, Sandrine Gulberti, Sofie Symoens, Suzanne Vanhauwaert, Andy Willaert, Bita Bozorgmehr, Mohamad Hasan Kariminejad, Nazanin Ebrahimiadib, Ingrid Haußer, Ann Huysseune, Sylvie Fournel‐Gigleux, Anne De Paepe
Pubblicazione 2013Artigo -
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Mutations in <i>FKBP10</i> cause recessive osteogenesis imperfecta and bruck syndrome di Brian Kelley, Fransiska Malfait, Luisa Bonafé, Dustin Baldridge, Erica P. Homan, Sofie Symoens, Andy Willaert, Nursel Elçioğlu, Lionel Van Maldergem, Christine Verellen‐Dumoulin, Y. Gillerot, Dobrawa Napierala, Deborah Krakow, Peter Beighton, Andrea Superti‐Furga, Anne De Paepe, Brendan Lee
Pubblicazione 2010Artigo -
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Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome di Paul Coucke, Andy Willaert, Marja W. Wessels, Bert Callewaert, Nicoletta Zoppi, Julie De Backer, Joyce E. Fox, Grazia M.S. Mancini, Marios Kambouris, Rita Gardella, Fabio Facchetti, Patrick J. Willems, Ramses Forsyth, Harry C. Dietz, Sergio Barlati, Marina Colombi, Bart Loeys, Anne De Paepe
Pubblicazione 2006Artigo -
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Genetic Defects in TAPT1 Disrupt Ciliogenesis and Cause a Complex Lethal Osteochondrodysplasia di Sofie Symoens, Aileen M. Barnes, Charlotte Gistelinck, Fransiska Malfait, Brecht Guillemyn, Wouter Steyaert, Delfien Syx, Sanne D’hondt, Martine Biervliet, Julie De Backer, P. Eckhard Witten, Sergey Leikin, Elena Makareeva, Gabriele Gillessen‐Kaesbach, Ann Huysseune, Kris Vleminckx, Andy Willaert, Anne De Paepe, Joan C. Marini, Paul Coucke
Pubblicazione 2015Artigo -
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Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis di 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, J.M. Naeyaert, Jo Vandesompele, Frank Speleman, Kristin Verschueren, Paul Coucke, Geert Mortier
Pubblicazione 2004Artigo -
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Zebrafish type I collagen mutants faithfully recapitulate human type I collagenopathies di Charlotte Gistelinck, Ronald Y. Kwon, Fransiska Malfait, Sofie Symoens, Matthew P. Harris, Katrin Henke, M. Brent Hawkins, Shannon Fisher, Patrick Sips, Brecht Guillemyn, Jan Willem Bek, Petra Vermassen, Hanna De Saffel, P. Eckhard Witten, MaryAnn Weis, Anne De Paepe, David R. Eyre, Andy Willaert, Paul Coucke
Pubblicazione 2018Artigo -
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Zebrafish Collagen Type I: Molecular and Biochemical Characterization of the Major Structural Protein in Bone and Skin di Charlotte Gistelinck, Roberta Gioia, Assunta Gagliardi, Francesca Tonelli, Loredana Marchese, Laura Bianchi, Claudia Landi, Luca Bini, Ann Huysseune, P. Eckhard Witten, An Staes, Kris Gevaert, Nina De Rocker, Björn Menten, Fransiska Malfait, Sergey Leikin, Silvia Carra, Ruggero Tenni, Antonio Rossi, Anne De Paepe, Paul Coucke, Andy Willaert, Antonella Forlino
Pubblicazione 2016Artigo -
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Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families di Bert Callewaert, Andy Willaert, Wilhelmina S. Kerstjens‐Frederikse, Julie De Backer, Koenraad Devriendt, Bruno Albrecht, María A. Ramos-Arroyo, M. Doco‐Fenzy, R Hennekam, Reed E. Pyeritz, O.N. Krogmann, Gabrielle Gillessen-Kaesbach, Emma Wakeling, Serena Nik‐Zainal, Christine Francannet, P. Mauran, C. Booth, Margaret Barrow, R. Dekens, Bart Loeys, Paul Coucke, Anne M. De Paepe
Pubblicazione 2007Artigo
Strumenti per la ricerca:
Soggetti correlati
Biology
Genetics
Gene
Zebrafish
Computational biology
Medicine
Phenotype
Anatomy
Endocrinology
Cell biology
Mutation
Pathology
CRISPR
Chemistry
Osteogenesis imperfecta
Type I collagen
Cas9
Genome
Internal medicine
Bioinformatics
Evolutionary biology
Extracellular matrix
Genome editing
Genomics
Xenopus
Biochemistry
Cartilage
Collagen, type I, alpha 1
Compound heterozygosity
Connective Tissue Disorder