Results 321 to 330 of about 619,710 (391)

<i>Atp1b2^Atp1b1</i> Knock-In Mice Exhibit a Cone-Rod Dystrophy-Like Phenotype. [PDF]

Cells
Bartsch S, Atiskova Y, Schlichting S, Becker E, Herrmann M, Bartsch U.   +5 more
europepmc   +1 more source

Age‐related penetrance of phospholamban p.Arg14del cardiomyopathy

European Journal of Heart Failure, EarlyView.
Age‐related penetrance of phospholamban (PLN) p.Arg14del cardiomyopathy. ECG, electrocardiogram; ICD, implantable cardioverter‐defibrillator; LVAD, left ventricular assist device; LVEF, left ventricular ejection fraction; MRI, magnetic resonance imaging; PVC, premature ventricular contraction; SCD, sudden cardiac death; VF, ventricular fibrillation; VT,
Tom E. Verstraelen, Freyja H.M. van Lint, Remco de Brouwer, Virginnio M. Proost, Esmee van Drie, Laurens P. Bosman, Lotte Weverink, Karim Taha, Thais Bueren, Aeilko H. Zwinderman, Cathelijne Dickhoff, Toon Oomen, Bas A. Schoonderwoerd, Tjeerd Germans, Arjan C. Houweling, Juan R. Gimeno‐Blanes, Folkert W. Asselbergs, Paul A. van der Zwaag, Anneline S.J.M. te Riele, Rudolf A. de Boer, Maarten P. van den Berg, J. Peter van Tintelen, Arthur A.M. Wilde   +22 more
wiley   +1 more source

MORC2 is a phosphorylation-dependent DNA compaction machine. [PDF]

Nat Commun
Tan W, Park J, Venugopal H, Lou J, Dias PS, Baldoni PL, Moon KW, Dite TA, Keenan CR, Gurzau AD, Lee J, Johanson TM, Leis A, Yousef J, Vaibhav V, Dagley LF, Ang CS, Corso LD, Davidovich C, Vervoort SJ, Smyth GK, Blewitt ME, Allan RS, Hinde E, D'Arcy S, Ryu JK, Shakeel S.   +26 more
europepmc   +1 more source

Mitochondrial targets in ischaemic heart disease and heart failure, and their potential for a more efficient clinical translation. A scientific statement of the ESC Working Group on Cellular Biology of the Heart and the ESC Working Group on Myocardial Function

European Journal of Heart Failure, EarlyView.
Improving clinical translation of mitoprotective therapies. 31P MRI, phosphorus‐31 magnetic resonance imaging; hiPSC‐CM, human‐induced pluripotent stem cell‐derived cardiomyocyte; IHD, ischaemic heart disease. Abstract Acute myocardial infarction (MI) remains a major cause of death and disability worldwide.
Melanie Paillard, Mahmoud Abdellatif, Ioanna Andreadou, Christian Bär, Luc Bertrand, Bianca J.J.M. Brundel, Gemma Chiva‐Blanch, Sean M. Davidson, Dana Dawson, Fabio Di Lisa, Paul Evans, Zoltan Giricz, Derek J. Hausenloy, Petra Kleinbongard, Frank Lezoualc'h, Elisa Liehn, Christoph Maack, Ange Maguy, Elizabeth Murphy, Cinzia Perrino, Maurizio Pesce, Peter P. Rainer, Katrin Streckfuss‐Bömeke, Matthias Thielmann, Rong Tian, Carlo G. Tocchetti, Jolanda Van Der Velden, Sophie Van Linthout, Serena Zacchigna, Thomas Krieg   +29 more
wiley   +1 more source

Boosting RNA nanotherapeutics with V-ATPase activating non-inflammatory lipid nanoparticles to treat chronic lung injury. [PDF]

Nat Commun
Zhao Z, Shan X, Ding J, Ma B, Li B, Huang W, Yang Q, Fang Y, Chen J, Song C, Wei C, Liu S, Cheng X, Zhang S, Liu Y, Wu H, Luo C, Shu S, Qiao X, Wang Z, Lu X, Miao L.   +21 more
europepmc   +1 more source

Practical management of repeated life‐threatening status epilepticus in Alternating Hemiplegia of Childhood: Case report and literature review

Epileptic Disorders, EarlyView.
Abstract Background Alternating Hemiplegia of Childhood (AHC) is a severe channelopathy that manifests before 18 months of age, primarily caused by pathogenic variants in the ATP1A3 gene. It is characterized by recurrent and disabling episodes of plegia, dystonia, dysautonomia, along with chronic neurological features and cardiac arrhythmias. About 50%
Ramona Cordani, Livia Pisciotta, Michela Stagnaro, Maria Margherita Mancardi, Elisabetta Lampugnani, Luca Manfredini, Lino Nobili, Edvige Veneselli, Elisa De Grandis   +8 more
wiley   +1 more source

Mechanisms of Viral DNA Replication of Human Papillomavirus: E2 Protein-Dependent Recruitment of E1 DNA Helicase to the Origin of DNA Replication. [PDF]

Int J Mol Sci
Rana A, Yilmaz G, Biswas-Fiss EE, Biswas S.   +3 more
europepmc   +1 more source

Precision therapies for genetic epilepsies in 2025: Promises and pitfalls

Epilepsia Open, EarlyView.
Abstract By targeting the underlying etiology, precision therapies offer an exciting paradigm shift to improve the stagnant outcomes of drug‐resistant epilepsies, including developmental and epileptic encephalopathies. Unlike conventional antiseizure medications (ASMs) which only treat the symptoms (seizures) but have no effect on the underlying ...
Shuyu Wang, Emilio Perucca, Samuel F. Berkovic, Piero Perucca   +3 more
wiley   +1 more source