An exploration of alternative therapeutic targets for aortic disease in Marfan syndrome

Authors: Van Den Heuvel, Lotte J.F., Peeters, Silke, Meester, Josephina A.N., Coucke, Paul J., Loeys, Bart L.

Source: In Drug Discovery Today July 2024 29(7)

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

Authors: Daponte, Valentina, Tonelli, Francesca, Masiero, Cecilia, Syx, Delfien, Exbrayat-Héritier, Chloé, Biggiogera, Marco, Willaert, Andy, Rossi, Antonio, Coucke, Paul J., Ruggiero, Florence, Forlino, Antonella

Source: In Matrix Biology August 2023 121:105-126

CRISPR-SID : Identifying EZH2 as a druggable target for desmoid tumors via in vivo dependency mapping

Authors: Naert, Thomas, Tulkens, Dieter, Van Nieuwenhuysen, Tom, Przybyl, Joanna, Demuynck, Suzan, van de Rijn, Matt, Al-Jazrawe, Mushriq, Alman, Benjamin A., Coucke, Paul J., De Leeneer, Kim, Vanhove, Christian, Savvides, Savvas N., Creytens, David, Vleminckx, Kris

Source: Proceedings of the National Academy of Sciences of the United States of America, 2021 Nov . 118(47), 1-12.

Access URL: https://www.jstor.org/stable/27094006

G protein–coupled receptor kinase 6 (GRK6) regulates insulin processing and secretion via effects on proinsulin conversion to insulin

Authors: Varney, Matthew J., Steyaert, Wouter, Coucke, Paul J., Delanghe, Joris R., Uehling, David E., Joseph, Babu, Marcellus, Richard, Al-awar, Rima, Benovic, Jeffrey L.

Source: In Journal of Biological Chemistry October 2022 298(10)

Hypergastrinemia, a clue leading to the identification of an atypical form of diabetes mellitus type 2

Authors: Steyaert, Wouter, Varney, Matthew J., Benovic, Jeffrey L., Creemers, John, Speeckaert, Marijn M., Coucke, Paul J., Delanghe, Joris R.

Source: Clinica chimica acta. 532:79-83

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100172884819.0x000001&indx=1&recIds=ETOCvdc_100172884819.0x000001

Crispant analysis in zebrafish as a tool for rapid functional screening of disease-causing genes for bone fragility.

Authors: Debaenst, Sophie, Jarayseh, Tamara, De Saffel, Hanna, Bek, Jan Willem, Boone, Matthieu, Josipovic, Ivan, Kibleur, Pierre, Kwon, Ronald Y., Coucke, Paul J., Willaert, Andy

Source: eLife; 1/16/2025, p1-20, 20p

Minocycline Attenuates Excessive DNA Damage Response and Reduces Ectopic Calcification in Pseudoxanthoma Elasticum

Authors: Nollet, Lukas, Van Gils, Matthias, Willaert, Andy, Coucke, Paul J., Vanakker, Olivier M.

Source: In Journal of Investigative Dermatology June 2022 142(6):1629-1638

Comprehensive validation of a diagnostic strategy for sequencing genes with one or multiple pseudogenes using pseudoxanthoma elasticum as a model

Authors: Steyaert, Wouter, Verschuere, Shana, Coucke, Paul J., Vanakker, Olivier M.

Source: In Journal of Genetics and Genomics 20 April 2021 48(4):289-299

Reassessment of causality of ABCC6 missense variants associated with pseudoxanthoma elasticum based on Sherloc

Authors: Verschuere, Shana, Navassiolava, Nastassia, Martin, Ludovic, Nevalainen, Pasi I., Coucke, Paul J., Vanakker, Olivier M.

Source: In Genetics in Medicine January 2021 23(1):131-139

Lrp5 Mutant and Crispant Zebrafish Faithfully Model Human Osteoporosis, Establishing the Zebrafish as a Platform for CRISPR‐Based Functional Screening of Osteoporosis Candidate Genes

Authors: Bek, Jan Willem, Shochat, Chen, De Clercq, Adelbert, De Saffel, Hanna, Boel, Annekatrien, Metz, Juriaan, Rodenburg, Frans, Karasik, David, Willaert, Andy, Coucke, Paul J

Source: Journal of bone and mineral research. 36(9):1749-1764

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100130136233.0x000001&indx=1&recIds=ETOCvdc_100130136233.0x000001

The corneoscleral shape in Marfan syndrome

Authors: Vanhonsebrouck, Eva, Consejo, Alejandra, Coucke, Paul J., Leroy, Bart P., Kreps, Elke O.

Source: Acta ophthalmologica. 99(4):405-410

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100121973657.0x000001&indx=1&recIds=ETOCvdc_100121973657.0x000001

Photoconvertible fluorescent proteins: a versatile tool in zebrafish skeletal imaging

Authors: Bek, Jan Willem, De Clercq, Adelbert, De Saffel, Hanna, Soenens, Mieke, Huysseune, Ann, Witten, P. Eckhard, Coucke, Paul J., Willaert, Andy

Source: Journal of fish biology. 98(4):1007-1017

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100119314179.0x000001&indx=1&recIds=ETOCvdc_100119314179.0x000001

The ZE-Tunnel: An Affordable, Easy-to-Assemble, and User-Friendly Benchtop Zebrafish Swim Tunnel

Authors: Bek, Jan Willem, De Clercq, Adelbert, Coucke, Paul J, Willaert, Andy

Source: Zebrafish. 18(1):29-41

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100154139140.0x000001&indx=1&recIds=ETOCvdc_100154139140.0x000001

New insights on the clinical variability of FKBP10 mutations

Authors: Essawi, Osama H., Tapaneeyaphan, Piyanoot, Symoens, Sofie, Gistelinck C, Charlotte, Malfait, Fransiska, Eyre, David R., Essawi, Tamer, Callewaert, Bert, Coucke, Paul J.

Source: In European Journal of Medical Genetics September 2020 63(9)

VEGFA variants as prognostic markers for the retinopathy in pseudoxanthoma elasticum

Authors: De Vilder, Eva Y.G., Hosen, Mohammad J., Martin, Ludovic, De Zaeytijd, Julie, Leroy, Bart P., Ebran, Jean‐Marc, Coucke, Paul J., De Paepe, Anne, Vanakker, Olivier M.

Source: Clinical genetics. 98(1):74-79

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100111763563.0x000001&indx=1&recIds=ETOCvdc_100111763563.0x000001

Gonadal Mosaicism as a Rare Inheritance Pattern in Recessive Genodermatoses: Report of Two Cases with Pseudoxanthoma Elasticum and Literature Review.

Authors: Dangreau, Lisa, Hosen, Mohammad J., De Zaeytijd, Julie, Leroy, Bart P., Coucke, Paul J., Vanakker, Olivier M.

Source: Current Issues in Molecular Biology; Sep2024, Vol. 46 Issue 9, p9998-10007, 10p

Zebrafish type I collagen mutants faithfully recapitulate human type I collagenopathies

Authors: 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.

Source: Proceedings of the National Academy of Sciences of the United States of America, 2018 Aug . 115(34), E8037-E8046.

Access URL: https://www.jstor.org/stable/26530207

Arterial tortuosity syndrome: 40 new families and literature review

Authors: Beyens, Aude, Albuisson, Juliette, Boel, Annekatrien, Al-Essa, Mazen, Al-Manea, Waheed, Bonnet, Damien, Bostan, Ozlem, Boute, Odile, Busa, Tiffany, Canham, Nathalie, Cil, Ergun, Coucke, Paul J., Cousin, Margot A., Dasouki, Majed, De Backer, Julie, De Paepe, Anne, De Schepper, Sofie, De Silva, Deepthi, Devriendt, Koenraad, De Wandele, Inge, Deyle, David R., Dietz, Harry, Dupuis-Girod, Sophie, Fontenot, Eudice, Fischer-Zirnsak, Björn, Gezdirici, Alper, Ghoumid, Jamal, Giuliano, Fabienne, Diéz, Neus Baena, Haider, Mohammed Z., Hardin, Joshua S., Jeunemaitre, Xavier, Klee, Eric W., Kornak, Uwe, Landecho, Manuel F., Legrand, Anne, Loeys, Bart, Lyonnet, Stanislas, Michael, Helen, Moceri, Pamela, Mohammed, Shehla, Muiño-Mosquera, Laura, Nampoothiri, Sheela, Pichler, Karin, Prescott, Katrina, Rajeb, Anna, Ramos-Arroyo, Maria, Rossi, Massimiliano, Salih, Mustafa, Seidahmed, Mohammed Z., Schaefer, Elise, Steichen-Gersdorf, Elisabeth, Temel, Sehime, Uysal, Fahrettin, Vanhomwegen, Marine, Van Laer, Lut, Van Maldergem, Lionel, Warner, David, Willaert, Andy, Collins, Tom R., Taylor, Andrea, Davis, Elaine C., Zarate, Yuri, Callewaert, Bert

Source: In Genetics in Medicine October 2018 20(10):1236-1245

A homozygous pathogenic missense variant broadens the phenotypic and mutational spectrum of CREB3L1-related osteogenesis imperfecta

Authors: Guillemyn, Brecht, Kayserili, Hülya, Demuynck, Lynn, Sips, Patrick, De Paepe, Anne, Syx, Delfien, Coucke, Paul J, Malfait, Fransiska, Symoens, Sofie

Source: Human molecular genetics. 28(11):1801-1809

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100094671901.0x000001&indx=1&recIds=ETOCvdc_100094671901.0x000001

G Protein‐Coupled Receptor Kinase 6 (GRK6) Regulation of Insulin Processing and Secretion

Authors: Varney, Matthew J., Steyaert, Wouter, Coucke, Paul J., Delanghe, Joris R., Benovic, Jeffrey L.

Source: FASEB journal. 36

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100196492664.0x000001&indx=1&recIds=ETOCvdc_100196492664.0x000001