Zobrazeno 1 - 10
of 785
pro vyhledávání: '"Miikka, Vikkula"'
Autor:
Sophie Welsch, Antoine Harvengt, Paola Gallo, Manon Martin, Dominique Beckers, Thierry Mouraux, Nicole Seret, Marie-Christine Lebrethon, Raphaël Helaers, Pascal Brouillard, Miikka Vikkula, Philippe A. Lysy
Publikováno v:
Diabetes & Metabolism Journal, Vol 48, Iss 5, Pp 949-959 (2024)
Background Recent diabetes subclassifications have improved the differentiation between patients with type 1 diabetes mellitus (T1DM) and type 2 diabetes mellitus despite several overlapping features, yet without considering genetic forms of diabetes
Externí odkaz:
https://doaj.org/article/77abe0ff27a345cba7ee84224367e612
Autor:
Nicole Revencu, Astrid Eijkelenboom, Claire Bracquemart, Pia Alhopuro, Judith Armstrong, Eulalia Baselga, Claudia Cesario, Maria Lisa Dentici, Melanie Eyries, Sofia Frisk, Helena Gásdal Karstensen, Nagore Gene-Olaciregui, Sirpa Kivirikko, Cinzia Lavarino, Inger-Lise Mero, Rodolphe Michiels, Elisa Pisaneschi, Bitten Schönewolf-Greulich, Ilse Wieland, Martin Zenker, Miikka Vikkula
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-14 (2024)
Abstract Background Vascular anomalies caused by somatic (postzygotic) variants are clinically and genetically heterogeneous diseases with overlapping or distinct entities. The genetic knowledge in this field is rapidly growing, and genetic testing i
Externí odkaz:
https://doaj.org/article/96cebae7c62045a88a31471616db7dd4
Autor:
Emmanuel Seront, Antoine Froidure, Nicole Revencu, Valerie Dekeuleneer, Philippe Clapuyt, Dana Dumitriu, Miikka Vikkula, Laurence M. Boon
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-6 (2024)
Abstract Repurposing anticancer drugs to vascular malformations has significantly improved patient outcomes. Complex Lymphatic Anomalies (CLA) are part of the spectrum of lymphatic malformations (LMs) that share similar oncogenic mutations to cancer.
Externí odkaz:
https://doaj.org/article/27565a7accc341e589e0e8225fd143af
Autor:
Nicole Revencu, Astrid Eijkelenboom, Claire Bracquemart, Pia Alhopuro, Judith Armstrong, Eulalia Baselga, Claudia Cesario, Maria Lisa Dentici, Melanie Eyries, Sofia Frisk, Helena Gásdal Karstensen, Nagore Gene‑Olaciregui, Sirpa Kivirikko, Cinzia Lavarino, Inger‑Lise Mero, Rodolphe Michiels, Elisa Pisaneschi, Bitten Schönewolf‑Greulich, Ilse Wieland, Martin Zenker, Miikka Vikkula
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-2 (2024)
Externí odkaz:
https://doaj.org/article/cc63cf2072d440f7ae2985dfe1cfb842
Autor:
Themis-Areti A. Andreoti, Aleksandra Tuleja, Yvonne Döring, Massimo Maiolo, André Schaller, Erik Vassella, Christiane Zweier, Laurence M. Boon, Miikka Vikkula, Jochen Rössler, Sarah M. Bernhard, Iris Baumgartner
Publikováno v:
Journal of Vascular Anomalies, Vol 4, Iss 4, p e076 (2023)
Objectives:. Parkes Weber syndrome (PWS) is a rare disorder that combines overgrowth, capillary malformations, and arteriovenous malformations (AVM)/arteriovenous fistulas, for which underlying activating mutations in the ras/mitogen-activated protei
Externí odkaz:
https://doaj.org/article/850e7ad90b9f43efbf058bf71390aee9
Autor:
Emmanuel Seront, An Van Damme, Catherine Legrand, Annouk Bisdorff-Bresson, Philippe Orcel, Thomas Funck-Brentano, Marie-Antoinette Sevestre, Anne Dompmartin, Isabelle Quere, Pascal Brouillard, Nicole Revencu, Martina De Bortoli, Frank Hammer, Philippe Clapuyt, Dana Dumitriu, Miikka Vikkula, Laurence M. Boon
Publikováno v:
JCI Insight, Vol 8, Iss 21 (2023)
BACKGROUND Slow-flow vascular malformations frequently harbor activating mutations in the PI3K/AKT/mTOR cascade. Phase II trials pinpointed sirolimus effectiveness as a drug therapy. Efficacy and safety of sirolimus thus need to be evaluated in large
Externí odkaz:
https://doaj.org/article/b4013dff8ad94c219c38422656c3b99e
Publikováno v:
PLoS Computational Biology, Vol 19, Iss 9, p e1011488 (2023)
The development of high-throughput next-generation sequencing technologies and large-scale genetic association studies produced numerous advances in the biostatistics field. Various aggregation tests, i.e. statistical methods that analyze association
Externí odkaz:
https://doaj.org/article/e36359d2ab3548cd9b7a5869cd08232f
Autor:
Anne Dompmartin, Eulalia Baselga, Laurence M. Boon, Andrea Diociaiuti, Veronika Dvorakova, May El Hachem, Paolo Gasparella, Emir Haxhija, Nader Ghaffarpour, Kristiina Kyrklund, Alan D. Irvine, Friedrich G. Kapp, Jochen Rößler, Päivi Salminen, Caroline van den Bosch, Carine van der Vleuten, Leo Schultze Kool, Miikka Vikkula
Publikováno v:
Journal of Vascular Anomalies, Vol 4, Iss 2, p e064 (2023)
Objective(s):. To elaborate expert consensus patient pathways to guide patients and physicians toward efficient diagnostics and management of patients with venous malformations. Methods:. VASCERN-VASCA (https://vascern.eu/) is a European network of m
Externí odkaz:
https://doaj.org/article/c0e5da68d8ac422abba0cd40b9c4244d
Autor:
Yalda Afshar, Feyiang Ma, Austin Quach, Anhyo Jeong, Hannah L Sunshine, Vanessa Freitas, Yasaman Jami-Alahmadi, Raphael Helaers, Xinmin Li, Matteo Pellegrini, James A Wohlschlegel, Casey E Romanoski, Miikka Vikkula, M Luisa Iruela-Arispe
Publikováno v:
eLife, Vol 12 (2023)
Environmental cues, such as physical forces and heterotypic cell interactions play a critical role in cell function, yet their collective contributions to transcriptional changes are unclear. Focusing on human endothelial cells, we performed broad in
Externí odkaz:
https://doaj.org/article/f5af08e56062488ea026c573d9c0968d
Autor:
Sofia Papadimitriou, Barbara Gravel, Charlotte Nachtegael, Elfride De Baere, Bart Loeys, Miikka Vikkula, Guillaume Smits, Tom Lenaerts
Publikováno v:
HGG Advances, Vol 4, Iss 1, Pp 100165- (2023)
Summary: Although standards and guidelines for the interpretation of variants identified in genes that cause Mendelian disorders have been developed, this is not the case for more complex genetic models including variant combinations in multiple gene
Externí odkaz:
https://doaj.org/article/d3ecc6ad8c4244848d97af835e35cfb5