Zobrazeno 1 - 10
of 154
pro vyhledávání: '"Gregor, Andelfinger"'
Treatment of RAF1-Related Obstructive Hypertrophic Cardiomyopathy by MEK Inhibition Using Trametinib
Autor:
Omid Kiamanesh, MD, Steven C. Greenway, MD, Franciscus Dicke, MD, MBA, Brennan Ballantyne, MD, Sasha Mitrovic, RDCS, Kaitlin McGrath, MD, James A. White, MD, William D.T. Kent, MD, Gregor Andelfinger, MD
Publikováno v:
JACC: Case Reports, Vol 29, Iss 13, Pp 102379- (2024)
RASopathies cause nonsarcomeric hypertrophic cardiomyopathy via dysregulated signaling through RAS and upregulated mitogen-activated protein kinase activity. We provide the first report of the successful treatment of an adult with RAF1-associated hyp
Externí odkaz:
https://doaj.org/article/9cbf8ae779bf410c9b90d4e76e614784
Autor:
Nicolas Poirier, Elie Haddad, Michel Duval, Valérie Paquin, Séverine Leclerc, Véronique Lisi, Carolina Marmolejo, Hicham Affia, Paulo Cordeiro, Yves Théorêt, Gregor Andelfinger, Vincent Philippe Lavallée, Sabine Herblot
Publikováno v:
Journal for ImmunoTherapy of Cancer, Vol 12, Iss 5 (2024)
Background Allogeneic hematopoietic stem cell transplantation (HSCT) remains the standard of care for chemotherapy-refractory leukemia patients, but cure rates are still dismal. To prevent leukemia relapse following HSCT, we aim to improve the early
Externí odkaz:
https://doaj.org/article/f0f0716f6dc24b4b8ba472b368e8d196
Autor:
Talita C. Conte, Gilberto Duran-Bishop, Zakaria Orfi, Inès Mokhtari, Alyson Deprez, Isabelle Côté, Thomas Molina, Tae-Yeon Kim, Lydia Tellier, Marie-Pier Roussel, Damien Maggiorani, Basma Benabdallah, Severine Leclerc, Lara Feulner, Ornella Pellerito, Jean Mathieu, Gregor Andelfinger, Cynthia Gagnon, Christian Beauséjour, Serge McGraw, Elise Duchesne, Nicolas A. Dumont
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-17 (2023)
Abstract Muscle stem cells, the engine of muscle repair, are affected in myotonic dystrophy type 1 (DM1); however, the underlying molecular mechanism and the impact on the disease severity are still elusive. Here, we show using patients’ samples th
Externí odkaz:
https://doaj.org/article/72d4142afc3647a1818a01b7490a64b2
Autor:
Andrew T. Song, Renata H.M. Sindeaux, Yuanyi Li, Hicham Affia, Tapan Agnihotri, Severine Leclerc, Patrick Piet van Vliet, Mathieu Colas, Jean-Victor Guimond, Natalie Patey, Lara Feulner, Jean-Sebastien Joyal, Elie Haddad, Luis Barreiro, Gregor Andelfinger
Publikováno v:
Cell Reports, Vol 43, Iss 1, Pp 113616- (2024)
Summary: Macrophages populate the embryo early in gestation, but their role in development is not well defined. In particular, specification and function of macrophages in intestinal development remain little explored. To study this event in the huma
Externí odkaz:
https://doaj.org/article/d3c7df78f95347ef9599f98c5a997049
Autor:
Donghai Liu, Andrew Taehun Song, Xiaoyan Qi, Patrick Piet van Vliet, Jiening Xiao, Feng Xiong, Gregor Andelfinger, Stanley Nattel
Publikováno v:
Nature Communications, Vol 12, Iss 1, Pp 1-14 (2021)
A mutation in Shugoshin-1 causes the Chronic Atrial and Intestinal Dysrhythmia (CAID) Syndrome, but the underlying mechanisms are unknown. Here, the authors show that Shugoshin-1 controls cardiac pacemaker activity by interacting with HCN4 to enhance
Externí odkaz:
https://doaj.org/article/d98ddf71fbdb43a688a704b3014cfe3c
Autor:
Emilie Heckel, Gael Cagnone, Tapan Agnihotri, Bertan Cakir, Ashim Das, Jin Sung Kim, Nicholas Kim, Geneviève Lavoie, Anu Situ, Sheetal Pundir, Ye Sun, Florian Wünnemann, Kerry A. Pierce, Courtney Dennis, Grant A. Mitchell, Sylvain Chemtob, Flavio A. Rezende, Gregor Andelfinger, Clary B. Clish, Philippe P. Roux, Przemyslaw Sapieha, Lois E.H. Smith, Jean-Sébastien Joyal
Publikováno v:
JCI Insight, Vol 7, Iss 6 (2022)
Dyslipidemia and autophagy have been implicated in the pathogenesis of blinding neovascular age-related macular degeneration (NV-AMD). VLDL receptor (VLDLR), expressed in photoreceptors with a high metabolic rate, facilitates the uptake of triglyceri
Externí odkaz:
https://doaj.org/article/2daa7b5d47564630a41d65386cd0a30f
Autor:
Enrique Audain, Anna Wilsdon, Jeroen Breckpot, Jose M G Izarzugaza, Tomas W Fitzgerald, Anne-Karin Kahlert, Alejandro Sifrim, Florian Wünnemann, Yasset Perez-Riverol, Hashim Abdul-Khaliq, Mads Bak, Anne S Bassett, D Woodrow Benson, Felix Berger, Ingo Daehnert, Koenraad Devriendt, Sven Dittrich, Piers Ef Daubeney, Vidu Garg, Karl Hackmann, Kirstin Hoff, Philipp Hofmann, Gregor Dombrowsky, Thomas Pickardt, Ulrike Bauer, Bernard D Keavney, Sabine Klaassen, Hans-Heiner Kramer, Christian R Marshall, Dianna M Milewicz, Scott Lemaire, Joseph S Coselli, Michael E Mitchell, Aoy Tomita-Mitchell, Siddharth K Prakash, Karl Stamm, Alexandre F R Stewart, Candice K Silversides, Reiner Siebert, Brigitte Stiller, Jill A Rosenfeld, Inga Vater, Alex V Postma, Almuth Caliebe, J David Brook, Gregor Andelfinger, Matthew E Hurles, Bernard Thienpont, Lars Allan Larsen, Marc-Phillip Hitz
Publikováno v:
PLoS Genetics, Vol 17, Iss 9, p e1009809 (2021)
[This corrects the article DOI: 10.1371/journal.pgen.1009679.].
Externí odkaz:
https://doaj.org/article/ee3c8898ef0a43729adf837c70afaa5a
Autor:
Enrique Audain, Anna Wilsdon, Jeroen Breckpot, Jose M G Izarzugaza, Tomas W Fitzgerald, Anne-Karin Kahlert, Alejandro Sifrim, Florian Wünnemann, Yasset Perez-Riverol, Hashim Abdul-Khaliq, Mads Bak, Anne S Bassett, D Woodrow Benson, Felix Berger, Ingo Daehnert, Koenraad Devriendt, Sven Dittrich, Piers Ef Daubeney, Vidu Garg, Karl Hackmann, Kirstin Hoff, Philipp Hofmann, Gregor Dombrowsky, Thomas Pickardt, Ulrike Bauer, Bernard D Keavney, Sabine Klaassen, Hans-Heiner Kramer, Christian R Marshall, Dianna M Milewicz, Scott Lemaire, Joseph S Coselli, Michael E Mitchell, Aoy Tomita-Mitchell, Siddharth K Prakash, Karl Stamm, Alexandre F R Stewart, Candice K Silversides, Reiner Siebert, Brigitte Stiller, Jill A Rosenfeld, Inga Vater, Alex V Postma, Almuth Caliebe, J David Brook, Gregor Andelfinger, Matthew E Hurles, Bernard Thienpont, Lars Allan Larsen, Marc-Phillip Hitz
Publikováno v:
PLoS Genetics, Vol 17, Iss 7, p e1009679 (2021)
Numerous genetic studies have established a role for rare genomic variants in Congenital Heart Disease (CHD) at the copy number variation (CNV) and de novo variant (DNV) level. To identify novel haploinsufficient CHD disease genes, we performed an in
Externí odkaz:
https://doaj.org/article/92067f3613e64d39b29f8fdaa8154ba8
Autor:
Maxime Caru, Kateryna Petrykey, Simon Drouin, Patrick Beaulieu, Pascal St-Onge, Valérie Lemay, Laurence Bertout, Caroline Laverdiere, Gregor Andelfinger, Maja Krajinovic, Daniel Sinnett, Daniel Curnier
Publikováno v:
BMC Cancer, Vol 19, Iss 1, Pp 1-8 (2019)
Abstract Background The progress of treatments of childhood acute lymphoblastic leukemia (ALL) has made it possible to reach a survival rate superior to 80%. However, the treatments lead to several long-term adverse effects, including cardiac toxicit
Externí odkaz:
https://doaj.org/article/78e4c4e962c747acb9289c5b4acaa22d
Autor:
Jessica Piché, Natacha Gosset, Lisa-Marie Legault, Alain Pacis, Andrea Oneglia, Maxime Caron, Philippe Chetaille, Luis Barreiro, Donghai Liu, Xioyan Qi, Stanley Nattel, Séverine Leclerc, Mélanie Breton-Larrivée, Serge McGraw, Gregor Andelfinger, Jeroen Bakkers, Bart Loeys, Michel Pucéat
Publikováno v:
Cellular and Molecular Gastroenterology and Hepatology, Vol 7, Iss 2, Pp 411-431 (2019)
Background & Aims: A generalized human pacemaking syndrome, chronic atrial and intestinal dysrhythmia (CAID) (OMIM 616201), is caused by a homozygous SGO1 mutation (K23E), leading to chronic intestinal pseudo-obstruction and arrhythmias. Because CAID
Externí odkaz:
https://doaj.org/article/8a8bdcb4983c41069d137c85a56a870e