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Bärbel Klauke
Ruhr University Bochum
20Publications
5H-index
130Citations
Publications 20
Newest
#1Andreas Brodehl (RUB: Ruhr University Bochum)H-Index: 8
#2Hans Ebbinghaus (RUB: Ruhr University Bochum)H-Index: 1
Last.Hendrik Milting (RUB: Ruhr University Bochum)H-Index: 26
view all 6 authors...
#1Ilona Schirmer (RUB: Ruhr University Bochum)H-Index: 3
#2Mareike Dieding (Bielefeld University)H-Index: 6
Last.Dario Anselmetti (Bielefeld University)H-Index: 36
view all 11 authors...
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...
#1Andreas Brodehl (RUB: Ruhr University Bochum)H-Index: 8
#2Anna Gaertner-Rommel (RUB: Ruhr University Bochum)H-Index: 4
Last.Dario Anselmetti (Bielefeld University)H-Index: 36
view all 13 authors...
Restrictive cardiomyopathy (RCM) is a rare heart disease characterized by diastolic dysfunction and atrial enlargement. The genetic etiology of RCM is not completely known. We identified by a next-generation sequencing panel the novel CRYAB missense mutation c.326A>G, p.D109G in a small family with RCM in combination with skeletal myopathy with an early onset of the disease. CRYAB encodes αB-Crystallin, a member of the small heat shock protein family, which is highly expressed in cardiac and ske...
#1Nicole HellenthalH-Index: 1
#2Anna Gaertner-Rommel (RUB: Ruhr University Bochum)H-Index: 4
Last.Hendrik Milting (RUB: Ruhr University Bochum)H-Index: 26
view all 9 authors...
Aims Coronary artery disease accounts for the majority of sudden cardiac deaths (SCD) in the older population whereas cardiomyopathies and arrhythmogenic abnormalities predominate in younger SCD victims (<35 years) with a significant genetic component. The elucidation of the pathogenetic cause of death might be relevant for the prevention of further deaths within affected families. Aim of this study was to determine the portion of underlying genetic heart diseases among unexplained putative SCD ...
#1José M. Pérez-Pomares (UMA: University of Málaga)H-Index: 32
Last.Nicole WagnerH-Index: 25
view all 27 authors...
# 470 Extracardiac endothelium patterns embryonic coronary arterio-venous connections {#article-title-2} Recent reports suggest that mammalian embryonic coronary endothelium (CoE) develops from the sinus venosus and ventricular endocardium. Although several studies in non-mammalian vertebrates have proven that extracardiac endothelial cells also participate in CoE development, the contribution of such cells to mammalian CoE is regarded to be minor and non-significant. Using classic (Wt1Cre) and ...
# 37 MicroRNA-494 reduces ATF3 expression and promotes heart failure in cardiac hypertrophic remodeling in vivo {#article-title-2} Background: Heart failure is a leading cause of death in industrialized nations especially in the aging populations. Novel approaches to treat the heart after acute injury and to improve cardiac hypertrophic remodeling and heart failure processes remain unsatisfactory. Activating transcription factor 3 (ATF3) is a member of the ATF/cAMP­response element­binding prote...
#1Hendrik Milting (RUB: Ruhr University Bochum)H-Index: 26
#2Bärbel Klauke (RUB: Ruhr University Bochum)H-Index: 5
Last.Henrik Kjærulf Jensen (Aarhus University Hospital)H-Index: 34
view all 24 authors...
Aims Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a rare genetic condition caused predominantly by mutations within desmosomal genes. The mutation leading to ARVC-5 was recently identified on the island of Newfoundland and caused by the fully penetrant missense mutation p.S358L in TMEM43 . Although TMEM43 -p.S358L mutation carriers were also found in the USA, Germany, and Denmark, the genetic relationship between North American and European patients and the disease mechanism of this...
Recently, Hedberg et al1 identified a DES mutation (p.P419S) in a Swedish family, suffering from myofibrillar myopathy (MFM) in combination with arrhythmogenic right ventricular cardiomyopathy (ARVC), by next-generation sequencing. Originally, a linkage analysis indicated that the genetic defect is located on chromosome 10q22.3 in this family.2 The analysis of muscle biopsies of affected patients demonstrated an aggregation of desmin and further proteins.
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