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Anna Gaertner-Rommel
Ruhr University Bochum
14Publications
4H-index
38Citations
Publications 14
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...
#1Jana Davina Debus (RUB: Ruhr University Bochum)H-Index: 1
#2Hendrik Milting (RUB: Ruhr University Bochum)H-Index: 26
Last.Anna Gaertner-Rommel (RUB: Ruhr University Bochum)H-Index: 4
view all 7 authors...
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 ...
#1Andreas Brodehl (RUB: Ruhr University Bochum)H-Index: 8
#2Anna Gaertner-Rommel (RUB: Ruhr University Bochum)H-Index: 4
Last.Hendrik Milting (RUB: Ruhr University Bochum)H-Index: 26
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...
#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...
#1Baerbel Klauke (RUB: Ruhr University Bochum)H-Index: 7
#2Anna Gaertner-Rommel (RUB: Ruhr University Bochum)H-Index: 4
Last.Eugen Sandica (RUB: Ruhr University Bochum)H-Index: 6
view all 14 authors...
Cardiomyopathies might lead to end-stage heart disease with the requirement of drastic treatments like bridging up to transplant or heart transplantation. A not precisely known proportion of these diseases are genetically determined. We genotyped 43 index-patients (30 DCM, 10 ARVC, 3 RCM) with advanced or end stage cardiomyopathy using a gene panel which covered 46 known cardiomyopathy disease genes. Fifty-three variants with possible impact on disease in 33 patients were identified. Of these 27...
#1Mareike DiedingH-Index: 6
#2Jana Davina Debus (RUB: Ruhr University Bochum)H-Index: 1
Last.Dario AnselmettiH-Index: 36
view all 7 authors...
Cadherins are calcium dependent adhesion proteins that establish the intercellular mechanical contact by bridging the gap to adjacent cells. Desmoglein-2 (Dsg2) is a specific cadherin of the cell-cell contact in cardiac desmosomes. Mutations in the DSG2-gene are regarded to cause arrhythmogenic (right ventricular) cardiomyopathy (ARVC) which is a rare but severe heart muscle disease. The molecular pathomechanisms of the vast majority of DSG2 mutations, however, are unknown. Here, we investigated...
#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...
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