PTCH1-mutant human cerebellar organoids exhibit altered neural development and recapitulate early medulloblastoma tumorigenesis

Autor: Max J. van Essen, Elizabeth J. Apsley, Joey Riepsaame, Ruijie Xu, Paul A. Northcott, Sally A. Cowley, John Jacob, Esther B. E. Becker

Publikováno v: Disease Models & Mechanisms, Vol 17, Iss 2 (2024)

Externí odkaz: https://doaj.org/article/6dd8bd19ab6c4c6d90c14eaf46139909

Deconstructing cerebellar development cell by cell.

Autor: Max J van Essen, Samuel Nayler, Esther B E Becker, John Jacob

Publikováno v: PLoS Genetics, Vol 16, Iss 4, p e1008630 (2020)

The cerebellum is a pivotal centre for the integration and processing of motor and sensory information. Its extended development into the postnatal period makes this structure vulnerable to a variety of pathologies, including neoplasia. These propert

Externí odkaz: https://doaj.org/article/a769b56466644a36a930919be7a005f7

Albuminuria as a marker of systemic congestion in patients with heart failure

Autor: Eva M Boorsma, Jozine M ter Maaten, Kevin Damman, Bart J van Essen, Faiez Zannad, Dirk J van Veldhuisen, Nilesh J Samani, Kenneth Dickstein, Marco Metra, Gerasimos Filippatos, Chim C Lang, Leong Ng, Stefan D Anker, John G Cleland, Pierpaolo Pellicori, Ron T Gansevoort, Hiddo J L Heerspink, Adriaan A Voors, Johanna E Emmens

Publikováno v: European Heart Journal
European Heart Journal, 2023, 44 (5), pp.368-380. ⟨10.1093/eurheartj/ehac528⟩
European Heart Journal, 44(5):ehac528, 368-380. Oxford University Press

Aims Albuminuria is common in patients with heart failure and associated with worse outcomes. The underlying pathophysiological mechanism of albuminuria in heart failure is still incompletely understood. The association of clinical characteristics an

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b60f2fed201c592006289a8183d5a402
https://hal.univ-lorraine.fr/hal-03798590/document

Sex versus gender-related differences in new-onset heart failure with preserved and reduced left ventricular ejection fraction

Autor: H Qin, B T Santema, J E Emmens, B J Van Essen, R T Gansevoort, S J L Bakker, R A De Boer, A A Voors

Publikováno v: European Heart Journal. 43

Aims Sex refers to genetic and biological characteristics, whereas gender reflects psychosocial norms, roles and behaviors. Sex differences in new-onset heart failure are well described, but gender differences in new-onset heart failure with preserve

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::3dbdf4b37b762c372a506639afc063f8
https://doi.org/10.1093/eurheartj/ehac544.882

Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7

Autor: Robert A. Hegele, Maria Iascone, Kevin A. Shapiro, Nicolas Chatron, Marwan Shinawi, Joel Charrow, Jeffrey W. Innis, Luitgard Graul-Neumann, Joanna Goes Castro Meira, Anna Lehman, Dawn L. Earl, Victoria R. Sanders, Shannon Rego, David A. Sweetser, Clémantine Dimartino, Wilhelmina S. Kerstjens-Frederikse, Antonio Vitobello, Davor Lessel, Daniel Grinberg, Laurence Faivre, Ryan Peretz, Katherine M. Christensen, Emma Reesor, Erin Beaver, Elizabeth Wohler, Margot R.F. Reijnders, Deborah Barbouth, Anna Cereda, Kaja Kristine Selmer, Melissa A. Walker, Barbro Stadheim, Alessandro Serretti, Helen Kingston, Jill Clayton-Smith, Raymond Lewandowski, Bernarda Lozić, Robert Stratton, Amelia Kirby, Anne H. O’Donnell-Luria, Sara Gabbiadini, Susanna Balcells, Myriam Oufadem, Christel Thauvin, Maha Aly, Wendy K. Chung, Susan M. White, Lauren C. Briere, Thomas Smol, Stanislas Lyonnet, Roberto Colombo, Catherine E. Keegan, Marie T. McDonald, Melanie Parisot, Tiong Yang Tan, Brian Wong, Christopher T. Gordon, Magnus Dehli Vigeland, Frances A. High, Emily Bryant, Audrey Labalme, Nara Sobreira, Arnold Munnich, Jeanne Amiel, Dayna Morel Swols, Raquel Rabionet, Laura Castilla-Vallmanya, Jennifer Heeley, Gunnar Houge, Michael J. Gambello, Bernardo Blanco-Sánchez, Lynn Pais, Olena M. Vaske, Roser Urreizti, Alison Wray, Veronique Pingault, Damien Sanlaville, John Christodoulou, John Millichap, Valérie Cormier-Daire, Parul Jayakar, Helen Cox, Frédéric Tran Mau-Them, Belinda Chong, Victoria Mok Siu, Anne Slavotinek, Antonie J. van Essen, Ingvild Aukrust, Lorne A. Clarke, Rachel Gannaway, Anne Dieux-Coeslier, Patrick Nitschké, Tony Yao, Simon Sadedin, Danielle Karlowicz, Christelle Rougeot, Christine Bole-Feysot, Sandra Yang, Megan T. Cho, Gaetan Lesca, Christiane Zweier

Publikováno v: Dipòsit Digital de la UB
Universidad de Barcelona
Genetics in Medicine, 22(7), 1215-1226. Nature Publishing Group
Genet Med

PURPOSE: Somatic variants in tumor necrosis factor receptor-associated factor 7 (TRAF7) cause meningioma, while germline variants have recently been identified in seven patients with developmental delay and cardiac, facial, and digital anomalies. We

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8ecbcc89382dda63f833e0863a3f1a46
https://cris.maastrichtuniversity.nl/en/publications/219e6f2d-7e00-41f9-b48c-41e6857f0ee8