Reducing YAP expression in Pkd1 mutant mice does not improve the cystic phenotype

por Formica, Chiara, Kunnen, Sandra, Dauwerse, Johannes G., Mullick, Adam E., Dijkstra, Kyra L., Scharpfenecker, Marion, Peters, Dorien J. M.
Publicado no J Cell Mol Med (2020)

Analysis of mutations within the intron20 splice donor site of CREBBP in patients with and without classical RSTS

por Dauwerse, Johannes G, van Belzen, Martine, van Haeringen, Arie, van Santen, Gijs, van de Lans, Christian, Rahikkala, Elisa, Garavelli, Livia, Breuning, Martijn, Hennekam, Raoul, Peters, Dorien
Publicado no Eur J Hum Genet (2016)

High-Throughput Phenotypic Screening of Kinase Inhibitors to Identify Drug Targets for Polycystic Kidney Disease

por Booij, Tijmen H., Bange, Hester, Leonhard, Wouter N., Yan, Kuan, Fokkelman, Michiel, Kunnen, Steven J., Dauwerse, Johannes G., Qin, Yu, van de Water, Bob, van Westen, Gerard J. P., Peters, Dorien J. M., Price, Leo S.
Publicado no SLAS Discov (2017)

Broad phenotype of cysteine-altering NOTCH3 variants in UK Biobank: CADASIL to nonpenetrance

por Rutten, Julie W., Hack, Remco J., Duering, Marco, Gravesteijn, Gido, Dauwerse, Johannes G., Overzier, Maurice, van den Akker, Erik B., Slagboom, Eline, Holstege, Henne, Nho, Kwangsik, Saykin, Andrew, Dichgans, Martin, Malik, Rainer, Lesnik Oberstein, Saskia A.J.
Publicado no Neurology (2020)

In vitro 3D phenotypic drug screen identifies celastrol as an effective in vivo inhibitor of polycystic kidney disease

por Booij, Tijmen H, Leonhard, Wouter N, Bange, Hester, Yan, Kuan, Fokkelman, Michiel, Plugge, Anna J, Veraar, Kimberley A M, Dauwerse, Johannes G, van Westen, Gerard J P, van de Water, Bob, Price, Leo S, Peters, Dorien J M
Publicado no J Mol Cell Biol (2019)

Naturally occurring NOTCH3 exon skipping attenuates NOTCH3 protein aggregation and disease severity in CADASIL patients

por Gravesteijn, Gido, Dauwerse, Johannes G, Overzier, Maurice, Brouwer, Gwendolyn, Hegeman, Ingrid, Mulder, Aat A, Baas, Frank, Kruit, Mark C, Terwindt, Gisela M, van Duinen, Sjoerd G, Jost, Carolina R, Aartsma-Rus, Annemieke, Lesnik Oberstein, Saskia A J, Rutten, Julie W
Publicado no Hum Mol Genet (2020)

A Unifying Genetic Model for Facioscapulohumeral Muscular Dystrophy

por Lemmers, Richard J.L.F., van der Vliet, Patrick J., Klooster, Rinse, Sacconi, Sabrina, Camaño, Pilar, Dauwerse, Johannes G., Snider, Lauren, Straasheijm, Kirsten R., Jan van Ommen, Gert, Padberg, George W., Miller, Daniel G., Tapscott, Stephen J., Tawil, Rabi, Frants, Rune R., van der Maarel, Silvère M.
Publicado no Science (2010)