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Andreas Brodehl
Ruhr University Bochum
29Publications
9H-index
293Citations
Publications 29
Newest
In the last few decades, many pathogenic or likely pathogenic genetic mutations in over hundred different genes have been described for non-ischemic, genetic cardiomyopathies. However, the functional knowledge about most of these mutations is still limited because the generation of adequate animal models is time-consuming and challenging. Therefore, human induced pluripotent stem cells (iPSCs) carrying specific cardiomyopathy-associated mutations are a promising alternative. Since the original d...
1 CitationsSource
#1Andrey V. Marakhonov (Far Eastern Federal University)H-Index: 1
#2Andreas Brodehl (RUB: Ruhr University Bochum)H-Index: 9
Last.Mikhail Skoblov (Far Eastern Federal University)H-Index: 2
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1 CitationsSource
#1Anna Gaertner (RUB: Ruhr University Bochum)H-Index: 4
#2Andreas Brodehl (RUB: Ruhr University Bochum)H-Index: 9
Last.Hendrik Milting (RUB: Ruhr University Bochum)H-Index: 27
view all 3 authors...
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#1Andreas Brodehl (Libin Cardiovascular Institute of Alberta)H-Index: 9
#2Saman Rezazadeh (Libin Cardiovascular Institute of Alberta)H-Index: 1
Last.Brenda Gerull (Libin Cardiovascular Institute of Alberta)H-Index: 21
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Arrhythmogenic cardiomyopathy is a genetic heart muscle disorder characterized by fibro-fatty replacement of cardiomyocytes leading to life-threatening ventricular arrhythmias, heart failure, and sudden cardiac death. Mutations in genes encoding cardiac junctional proteins are known to cause about half of cases, while remaining genetic causes are unknown. Using exome sequencing, we identified 2 missense variants (p.H33N and p.H77Y) that were predicted to be damaging in the integrin-linked kinase...
1 CitationsSource
#1Andreas Brodehl (RUB: Ruhr University Bochum)H-Index: 9
#2Hans Ebbinghaus (RUB: Ruhr University Bochum)H-Index: 1
Last.Hendrik Milting (RUB: Ruhr University Bochum)H-Index: 27
view all 6 authors...
2 CitationsSource
#1Andreas Brodehl (RUB: Ruhr University Bochum)H-Index: 9
#2Caroline Stanasiuk (RUB: Ruhr University Bochum)H-Index: 1
Last.Hendrik Milting (RUB: Ruhr University Bochum)H-Index: 27
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#1Jana Davina Debus (RUB: Ruhr University Bochum)H-Index: 1
#2Hendrik Milting (RUB: Ruhr University Bochum)H-Index: 27
Last.Anna Gaertner-Rommel (RUB: Ruhr University Bochum)H-Index: 6
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Abstract Arrhythmogenic right ventricular cardiomyopathy is a heritable cardiac disease causing severe ventricular arrhythmias, heart failure and sudden cardiac death. It is mainly caused by mutations in genes encoding several structural proteins of the cardiac desmosomes including the DSG2 gene encoding the desmosomal cadherin desmoglein-2. Although the molecular structure of the extracellular domain of desmoglein-2 is known, it remains an open question, how mutations in DSG2 contribute to the ...
1 CitationsSource
#1Andreas Brodehl (RUB: Ruhr University Bochum)H-Index: 9
#2Anna Gaertner-Rommel (RUB: Ruhr University Bochum)H-Index: 6
Last.Hendrik Milting (RUB: Ruhr University Bochum)H-Index: 27
view all 3 authors...
Increasing usage of next-generation sequencing techniques pushed during the last decade cardiogenetic diagnostics leading to the identification of a huge number of genetic variants in about 170 genes associated with cardiomyopathies, channelopathies, or syndromes with cardiac involvement. Because of the biochemical and cellular complexity, it is challenging to understand the clinical meaning or even the relevant pathomechanisms of the majority of genetic sequence variants. However, detailed know...
6 CitationsSource
#1Ilona Schirmer (RUB: Ruhr University Bochum)H-Index: 3
#2Mareike Dieding (Bielefeld University)H-Index: 7
Last.Hendrik Milting (RUB: Ruhr University Bochum)H-Index: 27
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Background DES mutations cause different cardiac and skeletal myopathies. Most of them are missense mutations. Methods Using a next-generation sequencing cardiac 174 gene panel, we identified a novel heterozygous in-frame indel mutation (DES-c.493_520del28insGCGT, p.Q165_A174delinsAS) in a Caucasian patient with cardiomyopathy in combination with atrioventricular block and skeletal myopathy. This indel mutation is located in the coding region of the first exon. Family anamnesis revealed a histor...
4 CitationsSource
#1Francisco José Bermúdez-Jiménez (UGR: University of Granada)H-Index: 3
#2Víctor Carriel (UGR: University of Granada)H-Index: 17
Last.Juan Jiménez-Jáimez (UGR: University of Granada)H-Index: 9
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Background —Desmin ( DES ) mutations cause severe skeletal and cardiac muscle disease with heterogeneous phenotypes. Recently, DES mutations were described in patients with inherited arrhythmogenic right ventricular cardiomyopathy/dysplasia (iARVC/D), although their cellular and molecular pathomechanisms are not precisely known. Our aim is to describe clinically and functionally the novel DES -p.Glu401Asp mutation as a cause of inherited left ventricular arrhythmogenic cardiomyopathy/dysplasia (...
12 CitationsSource
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