Nucleic acids enrichment of fungal pathogens to study host-pathogen interactions

por Rodríguez, Antonio, Guillemyn, Brecht, Coucke, Paul, Vaneechoutte, Mario
Publicado 2019

Loss of TANGO1 Leads to Absence of Bone Mineralization

por Guillemyn, Brecht, Nampoothiri, Sheela, Syx, Delfien, Malfait, Fransiska, Symoens, Sofie
Publicado 2021

The clinical and mutational spectrum of B3GAT3 linkeropathy: two case reports and literature review

por Colman, Marlies, Van Damme, Tim, Steichen-Gersdorf, Elisabeth, Laccone, Franco, Nampoothiri, Sheela, Syx, Delfien, Guillemyn, Brecht, Symoens, Sofie, Malfait, Fransiska
Publicado 2019

Functional characterization of novel MFSD8 pathogenic variants anticipates neurological involvement in juvenile isolated maculopathy

por Bauwens, Miriam, Storch, Stephan, Weisschuh, Nicole, Ceuterick‐de Groote, Chantal, De Rycke, Riet, Guillemyn, Brecht, De Jaegere, Sarah, Coppieters, Frauke, Van Coster, Rudy, Leroy, Bart P., De Baere, Elfride
Publicado 2019

Aberrant binding of mutant HSP47 affects posttranslational modification of type I collagen and leads to osteogenesis imperfecta

por Syx, Delfien, Ishikawa, Yoshihiro, Gebauer, Jan, Boudko, Sergei P., Guillemyn, Brecht, Van Damme, Tim, D’hondt, Sanne, Symoens, Sofie, Nampoothiri, Sheela, Gould, Douglas B., Baumann, Ulrich, Bächinger, Hans Peter, Malfait, Fransiska
Publicado 2021

Bi‐allelic mutation in SEC16B alters collagen trafficking and increases ER stress

por El‐Gazzar, Ahmed, Voraberger, Barbara, Rauch, Frank, Mairhofer, Mario, Schmidt, Katy, Guillemyn, Brecht, Mitulović, Goran, Reiterer, Veronika, Haun, Margot, Mayr, Michaela M, Mayr, Johannes A, Kimeswenger, Susanne, Drews, Oliver, Saraff, Vrinda, Shaw, Nick, Fratzl‐Zelman, Nadja, Symoens, Sofie, Farhan, Hesso, Högler, Wolfgang
Publicado 2023

Biallelic variants in MESD, which encodes a WNT-signaling-related protein, in four new families with recessively inherited osteogenesis imperfecta

por Tran, Thao T., Keller, Rachel B., Guillemyn, Brecht, Pepin, Melanie, Corteville, Jane E., Khatib, Samir, Fallah, Mohammad-Sadegh, Zeinali, Sirous, Malfait, Fransiska, Symoens, Sofie, Coucke, Paul, Witters, Peter, Levtchenko, Elena, Bagherian, Hamideh, Nickerson, Deborah A., Bamshad, Michael J., Chong, Jessica X., Byers, Peter H.
Publicado 2021

Zebrafish type I collagen mutants faithfully recapitulate human type I collagenopathies

por 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.
Publicado 2018

Functional characterization of the first missense variant in CEP78, a founder allele associated with cone‐rod dystrophy, hearing loss, and reduced male fertility

por Ascari, Giulia, Peelman, Frank, Farinelli, Pietro, Rosseel, Toon, Lambrechts, Nina, Wunderlich, Kirsten A., Wagner, Matias, Nikopoulos, Konstantinos, Martens, Pernille, Balikova, Irina, Derycke, Lara, Holtappels, Gabriële, Krysko, Olga, Van Laethem, Thalia, De Jaegere, Sarah, Guillemyn, Brecht, De Rycke, Riet, De Bleecker, Jan, Creytens, David, Van Dorpe, Jo, Gerris, Jan, Bachert, Claus, Neuhofer, Christiane, Walraedt, Sophie, Bischoff, Almut, Pedersen, Lotte B., Klopstock, Thomas, Rivolta, Carlo, Leroy, Bart P., De Baere, Elfride, Coppieters, Frauke
Publicado 2020