Mareike Dieding
Bielefeld University
Publications 12
#1Ilona Schirmer (RUB: Ruhr University Bochum)H-Index: 3
#2Mareike Dieding (Bielefeld University)H-Index: 6
Last.Dario Anselmetti (Bielefeld University)H-Index: 36
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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...
#1Mareike DiedingH-Index: 6
#2Jana Davina Debus (RUB: Ruhr University Bochum)H-Index: 1
Last.Dario AnselmettiH-Index: 36
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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 (Libin Cardiovascular Institute of Alberta)H-Index: 8
#2Mareike Dieding (Bielefeld University)H-Index: 6
Last.Brenda Gerull (Libin Cardiovascular Institute of Alberta)H-Index: 20
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Abstract Background Dilated cardiomyopathy (DCM) could be caused by mutations in more than 40 different genes. However, the pathogenic impact of specific mutations is in most cases unknown complicating the genetic counseling of affected families. Therefore, functional studies could contribute to distinguish pathogenic mutations and benign variants. Here, we present a novel heterozygous DES missense variant (c.407C > T; p.L136P) identified by next generation sequencing in a DCM patient. DES encod...
#1Thomas JanyH-Index: 2
#2Alexander MorethH-Index: 1
Last.Hartmut BöggeH-Index: 48
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The mechanism of the cytotoxic function of cisplatin and related anticancer drugs is based on their binding to the nucleobases of DNA. The development of new classes of anticancer drugs requires establishing other binding modes. Therefore, we performed a rational design for complexes that target two neighboring phosphates of the DNA backbone by molecular recognition resulting in a family of dinuclear complexes based on 2,7-disubstituted 1,8-naphthalenediol. This rigid backbone preorganizes the t...
#1Andreas Brodehl (Libin Cardiovascular Institute of Alberta)H-Index: 8
#2Mareike Dieding (Bielefeld University)H-Index: 6
Last.Hamdin Cakar (German National Metrology Institute)H-Index: 3
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Background—The intermediate filament protein desmin is encoded by the gene DES and contributes to the mechanical stabilization of the striated muscle sarcomere and cell contacts within the cardiac intercalated disk. DES mutations cause severe skeletal and cardiac muscle diseases with heterogeneous phenotypes. Recently, DES mutations were also found in patients with arrhythmogenic right ventricular cardiomyopathy. Currently, the cellular and molecular pathomechanisms of the DES mutations leading ...
Both fluorescence imaging and atomic force microscopy (AFM) are highly versatile and extensively used in applications ranging from nanotechnology to life sciences. In fluorescence microscopy luminescent dyes serve as position markers. Moreover, they can be used as active reporters of their local vicinity. The dipolar coupling of the tip with the incident light and the fluorophore give rise to a local field and fluorescence enhancement. AFM topographic imaging allows for resolutions down to the a...
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.
#1Anja Rischmüller (Bielefeld University)H-Index: 3
#2Martina Viefhues (Bielefeld University)H-Index: 8
Last.Martin SchleefH-Index: 19
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