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Andreas Brodehl
University Hospitals of the Ruhr-University of Bochum
CardiomyopathyDesminMutationGeneticsBiology
36Publications
11H-index
413Citations
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Publications 36
Newest
#1Brenda GerullH-Index: 23
#2Andreas Brodehl (University Hospitals of the Ruhr-University of Bochum)H-Index: 11
Arrhythmogenic cardiomyopathy has been clinically defined since the 1980s and causes right or biventricular cardiomyopathy associated with ventricular arrhythmia. Although it is a rare cardiac disease, it is responsible for a significant proportion of sudden cardiac deaths, especially in athletes. The majority of patients with arrhythmogenic cardiomyopathy carry one or more genetic variants in desmosomal genes. In the 1990s, several knockout mouse models of genes encoding for desmosomal proteins...
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#1Miloš KubánekH-Index: 7
#1Milos KubanekH-Index: 9
Last. Tomas Palecek (First Faculty of Medicine, Charles University in Prague)H-Index: 13
view all 22 authors...
Background: The pleomorphic clinical presentation makes the diagnosis of desminopathy difficult. We aimed to describe the prevalence, phenotypic expression, and mitochondrial function of individuals with putative disease-causing desmin (DES) variants identified in patients with an unexplained etiology of cardiomyopathy. Methods: A total of 327 Czech patients underwent whole exome sequencing and detailed phenotyping in probands harboring DES variants. Results: Rare, conserved, and possibly pathog...
1 CitationsSource
#1Andreas Brodehl (RUB: Ruhr University Bochum)H-Index: 11
#2Jürgen WeissH-Index: 1
Last. Anna Gärtner (RUB: Ruhr University Bochum)H-Index: 1
view all 17 authors...
Abstract Aims We aimed to unravel the genetic, molecular and cellular pathomechanisms of DSC2 truncation variants leading to arrhythmogenic cardiomyopathy (ACM). Methods and results We report a homozygous 4-bp DSC2 deletion variant c.1913_1916delAGAA, p.Q638LfsX647hom causing a frameshift carried by an ACM patient. Whole exome sequencing and comparative genomic hybridization analysis support a loss of heterozygosity in a large segment of chromosome 18 indicating segmental interstitial uniparenta...
1 CitationsSource
#1Anna Gaertner (RUB: Ruhr University Bochum)H-Index: 4
#2Bärbel Klauke (RUB: Ruhr University Bochum)H-Index: 7
Last. Hendrik Milting (RUB: Ruhr University Bochum)H-Index: 30
view all 4 authors...
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#1Andreas Brodehl (RUB: Ruhr University Bochum)H-Index: 11
#2Seyed Ahmad Pour Hakimi (Otto-von-Guericke University Magdeburg)H-Index: 1
Last. Hendrik Milting (RUB: Ruhr University Bochum)H-Index: 30
view all 10 authors...
Here, we present a small Iranian family, where the index patient received a diagnosis of restrictive cardiomyopathy (RCM) in combination with atrioventricular (AV) block. Genetic analysis revealed a novel homozygous missense mutation in the DES gene (c.364T > C; p.Y122H), which is absent in human population databases. The mutation is localized in the highly conserved coil-1 desmin subdomain. In silico, prediction tools indicate a deleterious effect of the desmin (DES) mutation p.Y122H. Consequen...
4 CitationsSource
#1Andreas Brodehl (RUB: Ruhr University Bochum)H-Index: 11
#2Hans Ebbinghaus (RUB: Ruhr University Bochum)H-Index: 2
Last. Hendrik Milting (RUB: Ruhr University Bochum)H-Index: 30
view all 7 authors...
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...
14 CitationsSource
#1Anna Gaertner (RUB: Ruhr University Bochum)H-Index: 4
#2Andreas Brodehl (RUB: Ruhr University Bochum)H-Index: 11
Last. Hendrik Milting (RUB: Ruhr University Bochum)H-Index: 30
view all 3 authors...
3 CitationsSource
#1A. V. Marakhonov (Far Eastern Federal University)H-Index: 6
#1Andrey V. Marakhonov (Far Eastern Federal University)H-Index: 1
Last. Mikhail Skoblov (Far Eastern Federal University)H-Index: 2
view all 19 authors...
: Mutations in DES, encoding desmin protein, are associated with different kinds of skeletal and/or cardiac myopathies. However, it is unknown, whether DES mutations are associated with left ventricular hypertrabeculation (LVHT). Here, we performed a clinical examination and subsequent genetic analysis in a family, with two individuals presenting LVHT with conduction disease and skeletal myopathy. The genetic analysis revealed a novel small in-frame deletion within the DES gene, p.Q113_L115del, ...
4 CitationsSource
#1Andreas Brodehl (RUB: Ruhr University Bochum)H-Index: 11
#2Hans Ebbinghaus (RUB: Ruhr University Bochum)H-Index: 2
Last. Hendrik Milting (RUB: Ruhr University Bochum)H-Index: 30
view all 6 authors...
3 CitationsSource
#1Andreas Brodehl (RUB: Ruhr University Bochum)H-Index: 11
#2Caroline Stanasiuk (RUB: Ruhr University Bochum)H-Index: 3
Last. Hendrik Milting (RUB: Ruhr University Bochum)H-Index: 30
view all 5 authors...
: Desmocollin-2 (DSC2) is a desmosomal protein of the cadherin family. Desmosomes are multiprotein complexes, which are involved in cell adhesion of cardiomyocytes and of keratinocytes. The molecular structure of the complete extracellular domain (ECD) of DSC2 was recently described, revealing three disulfide bridges, four N-glycosylation sites, and four O-mannosylation sites. However, the functional relevance of these post-translational modifications for the protein trafficking of DSC2 to the p...
2 CitationsSource
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