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Bärbel Klauke
Ruhr University Bochum
Single-nucleotide polymorphismCardiologyCardiomyopathyDesminMedicine
22Publications
7H-index
171Citations
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Publications 22
Newest
#1Andreas Brodehl (RUB: Ruhr University Bochum)H-Index: 10
#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...
Source
#1Andreas Brodehl (RUB: Ruhr University Bochum)H-Index: 10
#2Hans Ebbinghaus (RUB: Ruhr University Bochum)H-Index: 2
Last. Hendrik Milting (RUB: Ruhr University Bochum)H-Index: 30
view all 6 authors...
2 CitationsSource
Source
#1Ilona Schirmer (RUB: Ruhr University Bochum)H-Index: 4
#2Mareike Dieding (Bielefeld University)H-Index: 7
Last. Hendrik Milting (RUB: Ruhr University Bochum)H-Index: 30
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...
4 CitationsSource
#1Ilona SchirmerH-Index: 4
#2Mareike DiedingH-Index: 7
Last. Hendrik MiltingH-Index: 30
view all 7 authors...
Source
#1Andreas Brodehl (RUB: Ruhr University Bochum)H-Index: 10
#2Anna Gaertner-Rommel (RUB: Ruhr University Bochum)H-Index: 7
Last. Hendrik Milting (RUB: Ruhr University Bochum)H-Index: 30
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...
10 CitationsSource
#1Nicole HellenthalH-Index: 1
#2Anna Gaertner-Rommel (RUB: Ruhr University Bochum)H-Index: 7
Last. Hendrik Milting (RUB: Ruhr University Bochum)H-Index: 30
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 ...
7 CitationsSource
#2Bärbel KlaukeH-Index: 7
Last. Steve Marston (NIH: National Institutes of Health)H-Index: 20
view all 24 authors...
# 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...
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#1José M. Pérez-Pomares (UMA: University of Málaga)H-Index: 33
Last. Kalliopi Pilichou (UNIPD: University of Padua)H-Index: 18
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 ...
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