Search Results - "Schirmer, Ilona"

Novel Desmin Mutation p.Glu401Asp Impairs Filament Formation, Disrupts Cell Membrane Integrity, and Causes Severe Arrhythmogenic Left Ventricular Cardiomyopathy/Dysplasia by Bermúdez-Jiménez, Francisco José, Carriel, Víctor, Brodehl, Andreas, Alaminos, Miguel, Campos, Antonio, Schirmer, Ilona, Milting, Hendrik, Abril, Beatriz Álvarez, Álvarez, Miguel, López-Fernández, Silvia, García-Giustiniani, Diego, Monserrat, Lorenzo, Tercedor, Luis, Jiménez-Jáimez, Juan

“…BACKGROUND:Desmin (DES) mutations cause severe skeletal and cardiac muscle disease with heterogeneous phenotypes. Recently, DES mutations were described in…”
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Soluble adenylyl cyclase: A novel player in cardiac hypertrophy induced by isoprenaline or pressure overload by Schirmer, Ilona, Bualeong, Tippaporn, Budde, Heidi, Cimiotti, Diana, Appukuttan, Avinash, Klein, Nicole, Steinwascher, Philip, Reusch, Peter, Mügge, Andreas, Meyer, Rainer, Ladilov, Yury, Jaquet, Kornelia

“…In contrast to the membrane bound adenylyl cyclases, the soluble adenylyl cyclase (sAC) is activated by bicarbonate and divalent ions including calcium. sAC is…”
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The novel αB‐crystallin (CRYAB) mutation p.D109G causes restrictive cardiomyopathy by Brodehl, Andreas, Gaertner‐Rommel, Anna, Klauke, Bärbel, Grewe, Simon Andre, Schirmer, Ilona, Peterschröder, Andreas, Faber, Lothar, Vorgerd, Matthias, Gummert, Jan, Anselmetti, Dario, Schulz, Uwe, Paluszkiewicz, Lech, Milting, Hendrik

“…Restrictive cardiomyopathy (RCM) is a rare heart disease characterized by diastolic dysfunction and atrial enlargement. The genetic etiology of RCM is not…”
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The multiple proarrhythmic roles of cardiac calcium-handling abnormalities: triggered activity, conduction abnormalities, beat-to-beat variability, and adverse remodelling by Heijman, Jordi, Schirmer, Ilona, Dobrev, Dobromir

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Calcium Handling Abnormalities as a Target for Atrial Fibrillation Therapeutics: How Close to Clinical Implementation? by Heijman, Jordi, Voigt, Niels, Ghezelbash, Shokoufeh, Schirmer, Ilona, Dobrev, Dobromir

“…Atrial fibrillation (AF) is the most common cardiac arrhythmia with a substantial impact on morbidity and mortality. Antiarrhythmic drugs play a major role in…”
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A novel desmin (DES) indel mutation causes severe atypical cardiomyopathy in combination with atrioventricular block and skeletal myopathy by Schirmer, Ilona, Dieding, Mareike, Klauke, Bärbel, Brodehl, Andreas, Gaertner‐Rommel, Anna, Walhorn, Volker, Gummert, Jan, Schulz, Uwe, Paluszkiewicz, Lech, Anselmetti, Dario, Milting, Hendrik

“…Background DES mutations cause different cardiac and skeletal myopathies. Most of them are missense mutations. Methods Using a next‐generation sequencing…”
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