Cardiomyopathy‐associated mutations in the RS domain affect nuclear localization of RBM20
Gaertner, Anna, Klauke, Baerbel, Felski, Elina, Kassner, Astrid, Brodehl, Andreas, Gerdes, Désirée, Stanasiuk, Caroline, Ebbinghaus, Hans, Schulz, Uwe, Dubowy, Karl‐Otto, Tiesmeier, Jens, Laser, Kai‐Thorsten, Bante, Hendrik, Bergau, Leonard, Sommer, Philipp, Fox, Henrik, Morshuis, Michiel, Gummert, Jan, Milting, Hendrik
Published in Human mutation (01.11.2020)
Published in Human mutation (01.11.2020)
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High proportion of genetic cases in patients with advanced cardiomyopathy including a novel homozygous Plakophilin 2-gene mutation
Klauke, Baerbel, Gaertner-Rommel, Anna, Schulz, Uwe, Kassner, Astrid, Zu Knyphausen, Edzard, Laser, Thorsten, Kececioglu, Deniz, Paluszkiewicz, Lech, Blanz, Ute, Sandica, Eugen, van den Bogaerdt, Antoon J, van Tintelen, J Peter, Gummert, Jan, Milting, Hendrik
Published in PloS one (18.12.2017)
Published in PloS one (18.12.2017)
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Compound Heterozygous FKTN Variants in a Patient with Dilated Cardiomyopathy Led to an Aberrant α-Dystroglycan Pattern
Gaertner, Anna, Burr, Lidia, Klauke, Baerbel, Brodehl, Andreas, Laser, Kai Thorsten, Klingel, Karin, Tiesmeier, Jens, Schulz, Uwe, Knyphausen, Edzard zu, Gummert, Jan, Milting, Hendrik
Published in International journal of molecular sciences (15.06.2022)
Published in International journal of molecular sciences (15.06.2022)
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In vitro Modeling of Ryanodine Receptor 2 Dysfunction Using Human Induced Pluripotent Stem Cells
Fatima, Azra, Xu, Guoxing, Shao, Kaifeng, Papadopoulos, Symeon, Lehmann, Martin, Arnáiz-Cot, Juan J., Rosa, Angelo O., Nguemo, Filomain, Matzkies, Matthias, Dittmann, Sven, Stone, Susannah L., Linke, Matthias, Zechner, Ulrich, Beyer, Vera, Hennies, Hans Christian, Rosenkranz, Stephan, Klauke, Baerbel, Parwani, Abdul S., Haverkamp, Wilhelm, Pfitzer, Gabriele, Farr, Martin, Cleemann, Lars, Morad, Martin, Milting, Hendrik, Hescheler, Juergen, Šaric, Tomo
Published in Cellular physiology and biochemistry (01.01.2011)
Published in Cellular physiology and biochemistry (01.01.2011)
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The Combined Human Genotype of Truncating TTN and RBM20 Mutations Is Associated with Severe and Early Onset of Dilated Cardiomyopathy
Gaertner, Anna, Bloebaum, Julia, Brodehl, Andreas, Klauke, Baerbel, Sielemann, Katharina, Kassner, Astrid, Fox, Henrik, Morshuis, Michiel, Tiesmeier, Jens, Schulz, Uwe, Knoell, Ralph, Gummert, Jan, Milting, Hendrik
Published in Genes (08.06.2021)
Published in Genes (08.06.2021)
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De novo desmin-mutation N116S is associated with arrhythmogenic right ventricular cardiomyopathy
Klauke, Baerbel, Kossmann, Sabine, Gaertner, Anna, Brand, Kristina, Stork, Ines, Brodehl, Andreas, Dieding, Mareike, Walhorn, Volker, Anselmetti, Dario, Gerdes, Désirée, Bohms, Birte, Schulz, Uwe, zu Knyphausen, Edzard, Vorgerd, Matthias, Gummert, Jan, Milting, Hendrik
Published in Human molecular genetics (01.12.2010)
Published in Human molecular genetics (01.12.2010)
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Molecular autopsy of sudden unexplained deaths reveals genetic predispositions for cardiac diseases among young forensic cases
Hellenthal, Nicole, Gaertner-Rommel, Anna, Klauke, Bärbel, Paluszkiewicz, Lech, Stuhr, Markus, Kerner, Thoralf, Farr, Martin, Püschel, Klaus, Milting, Hendrik
Published in Europace (London, England) (01.11.2017)
Published in Europace (London, England) (01.11.2017)
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Journal Article
A homozygous DSC2 deletion associated with arrhythmogenic cardiomyopathy is caused by uniparental isodisomy
Brodehl, Andreas, Weiss, Jürgen, Debus, Jana Davina, Stanasiuk, Caroline, Klauke, Bärbel, Deutsch, Marcus André, Fox, Henrik, Bax, Jördis, Ebbinghaus, Hans, Gärtner, Anna, Tiesmeier, Jens, Laser, Thorsten, Peterschröder, Andreas, Gerull, Brenda, Gummert, Jan, Paluszkiewicz, Lech, Milting, Hendrik
Published in Journal of molecular and cellular cardiology (01.04.2020)
Published in Journal of molecular and cellular cardiology (01.04.2020)
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Journal Article
Functional characterization of the novel DES mutation p.L136P associated with dilated cardiomyopathy reveals a dominant filament assembly defect
Brodehl, Andreas, Dieding, Mareike, Biere, Niklas, Unger, Andreas, Klauke, Bärbel, Walhorn, Volker, Gummert, Jan, Schulz, Uwe, Linke, Wolfgang A, Gerull, Brenda, Vorgert, Matthias, Anselmetti, Dario, Milting, Hendrik
Published in Journal of molecular and cellular cardiology (01.02.2016)
Published in Journal of molecular and cellular cardiology (01.02.2016)
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Journal Article
Dual Color Photoactivation Localization Microscopy of Cardiomyopathy-associated Desmin Mutants
Brodehl, Andreas, Hedde, Per Niklas, Dieding, Mareike, Fatima, Azra, Walhorn, Volker, Gayda, Susan, Šarić, Tomo, Klauke, Bärbel, Gummert, Jan, Anselmetti, Dario, Heilemann, Mike, Nienhaus, Gerd Ulrich, Milting, Hendrik
Published in The Journal of biological chemistry (04.05.2012)
Published in The Journal of biological chemistry (04.05.2012)
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Journal Article
The TMEM43 Newfoundland mutation p.S358L causing ARVC-5 was imported from Europe and increases the stiffness of the cell nucleus
Milting, Hendrik, Klauke, Bärbel, Christensen, Alex Hoerby, Müsebeck, Jörg, Walhorn, Volker, Grannemann, Sören, Münnich, Tamara, Šarić, Tomo, Rasmussen, Torsten Bloch, Jensen, Henrik Kjærulf, Mogensen, Jens, Baecker, Carolin, Romaker, Elena, Laser, Kai Thorsten, zu Knyphausen, Edzard, Kassner, Astrid, Gummert, Jan, Judge, Daniel P, Connors, Sean, Hodgkinson, Kathy, Young, Terry-L, van der Zwaag, Paul A, van Tintelen, J Peter, Anselmetti, Dario
Published in European heart journal (07.04.2015)
Published in European heart journal (07.04.2015)
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The Desmin Mutation DES-c.735G>C Causes Severe Restrictive Cardiomyopathy by Inducing In-Frame Skipping of Exon-3
Brodehl, Andreas, Hain, Carsten, Flottmann, Franziska, Ratnavadivel, Sandra, Gaertner, Anna, Klauke, Bärbel, Kalinowski, Jörn, Körperich, Hermann, Gummert, Jan, Paluszkiewicz, Lech, Deutsch, Marcus-André, Milting, Hendrik
Published in Biomedicines (05.10.2021)
Published in Biomedicines (05.10.2021)
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Journal Article
RBM20 mutations in left ventricular non‐compaction cardiomyopathy
Gaertner, Anna, Klauke, Bärbel, Brodehl, Andreas, Milting, Hendrik
Published in Pediatric investigation (01.03.2020)
Published in Pediatric investigation (01.03.2020)
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Journal Article
A novel desmin (DES) indel mutation causes severe atypical cardiomyopathy in combination with atrioventricular block and skeletal myopathy
Schirmer, Ilona, Dieding, Mareike, Klauke, Bärbel, Brodehl, Andreas, Gaertner‐Rommel, Anna, Walhorn, Volker, Gummert, Jan, Schulz, Uwe, Paluszkiewicz, Lech, Anselmetti, Dario, Milting, Hendrik
Published in Molecular genetics & genomic medicine (01.03.2018)
Published in Molecular genetics & genomic medicine (01.03.2018)
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Journal Article
Composite polymorphisms in the ryanodine receptor 2 gene associated with arrhythmogenic right ventricular cardiomyopathy
MILTING, Hendrik, LUKAS, Nina, KLAUKE, Bärbel, KÖRFER, Reiner, PERROT, Andreas, OSTERZIEL, Karl-Josef, VOGT, Jürgen, PETERS, Stefan, THIELECZEK, Rolf, VARSANYI, Magdolna
Published in Cardiovascular research (01.08.2006)
Published in Cardiovascular research (01.08.2006)
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Journal Article
No Association Between Single Nucleotide Polymorphisms and the Development of Nephrotoxicity After Orthotopic Heart Transplantation
Klauke, Bärbel, PhD, Wirth, Andreas, MSc, Zittermann, Armin, PhD, Bohms, Birte, Tenderich, Gero, MD, Körfer, Reiner, MD, Milting, Hendrik, PhD
Published in The Journal of heart and lung transplantation (01.07.2008)
Published in The Journal of heart and lung transplantation (01.07.2008)
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Journal Article
Abstract 14824: Cardiomyopathy-associated RBM20-mutations Within the RS Domain Lead to Aberrant Splicing of TTN and RYR2 in Human Myocardium and to a Mislocalisation of the RBM20-protein
Gaertner-Rommel, Anna, Klauke, Baerbel, Linke, Wolfgang, Kececioglu, Deniz, Laser, Kai Thorsten, Gummert, Jan, Milting, Hendrik
Published in Circulation (New York, N.Y.) (11.11.2016)
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Published in Circulation (New York, N.Y.) (11.11.2016)
Journal Article
Molecular genetics of arrhythmogenic right ventricular dysplasia/cardiomyopathy
Milting, Hendrik, Klauke, Baerbel
Published in Nature clinical practice cardiovascular medicine (01.10.2008)
Published in Nature clinical practice cardiovascular medicine (01.10.2008)
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