Zobrazeno 1 - 10 of 171 pro vyhledávání: '"A J, van Essen"'
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Akademický článek
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
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4
PTCH1mutant human cerebellar organoids are associated with altered neural development and early pathways of medulloblastoma oncogenesis
Autor: Max J. van Essen, Joey Riepsaame, Sally A. Cowley, John Jacob, Esther B. E. Becker
SummaryPatched 1 (PTCH1) is the primary receptor for Sonic Hedgehog (SHH) ligand and negatively regulates SHH signalling, an essential pathway in human embryogenesis. Loss-of-function mutations inPTCH1are associated with altered neuronal development
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::8406be046014c426aa39438eb60a2ac5
https://doi.org/10.1101/2023.05.10.540200
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5
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
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6
Biomarker signature and pathophysiological pathways in chronic heart failure patients with metabolic syndrome
Autor: Camilla C S, van der Hoef, Eva M, Boorsma, Johanna E, Emmens, Bart J, van Essen, Marco, Metra, Leong L, Ng, Stefan D, Anker, Kenneth, Dickstein, Ify R, Mordi, Adel, Dihoum, Chim C, Lang, Dirk J, van Veldhuisen, Carolyn S P, Lam, Adriaan A, Voors
Publikováno v: European journal of heart failure.
The comorbidities that collectively define metabolic syndrome are common in patients with heart failure. However, the role of metabolic syndrome in the pathophysiology of heart failure is not well understood. We therefore investigated the clinical an
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::9c43c6e0a3b20984f4ce535e57f6ea7e
https://pubmed.ncbi.nlm.nih.gov/36597718
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8
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
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9
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
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10
Visual Outcomes after Endoscopic Endonasal Transsphenoidal Resection of Pituitary Adenomas: Our Institutional Experience
Autor: Arthur T.J. van der Boog, Tristan P.C. van Doormaal, G. Johan Amelink, Stephan F.J. Belunek, Christine A.E. Eenhorst, Max J. van Essen, Nayan Lamba, Maria M. van Genderen, Joost J.C. Verhoeff, Peter H. Gosselaar, Ivo S. Muskens, Marike L. D. Broekman, Aline M.E. Stades
Publikováno v: Journal of Neurological Surgery Part B: Skull Base, 82, E79-E87. THIEME MEDICAL PUBL INC
J Neurol Surg B Skull Base
Objectives Visual dysfunction in patients with pituitary adenomas is a clear indication for endoscopic endonasal transsphenoidal surgery (EETS). However, the visual outcomes vary greatly among patients and it remains unclear what tumor, patient, and
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f726fac6e9a2560004c2c8113fe4aad2
https://doi.org/10.1055/s-0039-3402020
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