Výsledky vyhledávání - "Milting, Hendrik (Prof. Dr. rer. nat.)"

The desmin mutation \(\it DES\)-c.735G>C causes severe restrictive cardiomyopathy by inducing in-frame skipping of exon-3

Autor: Brodehl, Andreas, Hain, Carsten, Flottmann, Franziska, Ratnavadivel, Sandra, Gärtner-Rommel, Anna (Dr. rer. nat.), Klauke, Bärbel, Kalinowski, Jörn, Körperich, Hermann (Dr.), Gummert, Jan (Prof. Dr. med.), Paluszkiewicz, Lech, Deutsch, Marcus-André (Dr. med.), Milting, Hendrik (Prof. Dr. rer. nat.)

Currently, little is known about the genetic background of restrictive cardiomyopathy (RCM). Herein, we screened an index patient with RCM in combination with atrial fibrillation using a next generation sequencing (NGS) approach and identified the he

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3579::8bfdc540d95728edc046fd1001d36544
https://hss-opus.ub.ruhr-uni-bochum.de/opus4/files/8619/BrodehlAndreas4.pdf

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De novo missense mutations in \(\it TNNC1\) and \(\it TNNI3\) causing severe infantile cardiomyopathy affect myofilament structure and function and are modulated by troponin targeting agents

Rare pediatric non-compaction and restrictive cardiomyopathy are usually associated with a rapid and severe disease progression. While the non-compaction phenotype is characterized by structural defects and is correlated with systolic dysfunction, th

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3579::d06f239416af150948e744cc1fcd5318
https://hss-opus.ub.ruhr-uni-bochum.de/opus4/files/8984/CimiottiDiana2.pdf

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The combined human genotype of truncating \(\it TTN\) and \(\it RBM20\) mutations is associated with severe and early onset of dilated cardiomyopathy

Autor: Gärtner-Rommel, Anna (Dr. rer. nat.), Bloebaum, Julia (M. Sc.), Brodehl, Andreas, Klauke, Bärbel, Sielemann, Katharina (M.Sc.), Kassner, Astrid (Dipl.), Fox, Henrik (PD Dr. med.), Morshuis, Michiel, Tiesmeier, Jens (Dr. med.), Schulz, Uwe, Knöll, Ralph (Dr. med.), Gummert, Jan (Prof. Dr. med.), Milting, Hendrik (Prof. Dr. rer. nat.)

A major cause of heart failure is cardiomyopathies, with dilated cardiomyopathy (DCM) as the most common form. Over 40 genes are linked to DCM, among them \(\it TTN\) and \(\it RBM20\). Next Generation Sequencing in clinical DCM cohorts revealed trun

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3579::a37b7d2420f6ee0432046c51823655e0
https://hss-opus.ub.ruhr-uni-bochum.de/opus4/files/8393/MiltingHendrik4.pdf

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Restrictive cardiomyopathy is caused by a novel homozygous desmin \(\it (DES)\) mutation p.Y122H leading to a severe filament assembly defect

Autor: Brodehl, Andreas, Pour Hakimi, Seyed Ahmad, Stanasiuk, Caroline (B. Sc.), Ratnavadivel, Sandra, Hendig, Doris (Dr. rer. nat.), Gärtner-Rommel, Anna (Dr. rer. nat.), Gerull, Brenda, Gummert, Jan (Prof. Dr. med.), Paluszkiewicz, Lech, Milting, Hendrik (Prof. Dr. rer. nat.)

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 \(\it DES

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3579::317e7582dea155807f43f395cd6ebd32
https://hss-opus.ub.ruhr-uni-bochum.de/opus4/files/6949/BrodehlAndreas1.pdf

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Molecular autopsy and family screening in a young case of sudden cardiac death reveals an unusually severe case of \(\it FHL1\) related hypertrophic cardiomyopathy

Autor: Gärtner-Rommel, Anna (Dr. rer. nat.), Tiesmeier, Jens (Dr. med.), Jakob, Thomas (Dr. med.), Strickmann, Bernd (Dr. med.), Veit, Gunter, Bachmann-Mennenga, Bernd (Prof. Dr. med.), Paluszkiewicz, Lech, Klingel, Karin (Prof. Dr. med.), Schulz, Uwe, Laser, Kai Thorsten (PD Dr. med.), Karger, Bernd (PD Dr. med.), Pfeiffer, Heidi (Prof. Dr. med.), Milting, Hendrik (Prof. Dr. rer. nat.)

\(\bf Background\) Hypertrophic cardiomyopathy (HCM) is a genetic cardiomyopathy with a prevalence of about 1:200. It is characterized by left ventricular hypertrophy, diastolic dysfunction and interstitial fibrosis; HCM might lead to sudden cardiac

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3579::d998b94f53aac59c9c332c4d8718becb
https://hss-opus.ub.ruhr-uni-bochum.de/opus4/files/7717/GaertnerRommelAnna1.pdf

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Incorporation of desmocollin-2 into the plasma membrane requires \(\it N\)-glycosylation at multiple sites

Autor: Brodehl, Andreas, Stanasiuk, Caroline (B. Sc.), Anselmetti, Dario (Prof. Dr.), Gummert, Jan (Prof. Dr. med.), Milting, Hendrik (Prof. Dr. rer. nat.)

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)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3579::f22b66eee44a1cd662a04dc4d4c94079
https://hss-opus.ub.ruhr-uni-bochum.de/opus4/frontdoor/index/index/docId/8887

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High proportion of genetic cases in patients with advanced cardiomyopathy including a novel homozygous \(\textit {Plakophilin 2}\)-gene mutation

Autor: Klauke, Bärbel, Gärtner-Rommel, Anna (Dr. rer. nat.), Schulz, Uwe, Kassner, Astrid (Dipl.), Knyphausen, Edzard zu, Laser, Kai Thorsten (PD Dr. med.), Kececioglu, Deniz (Prof. Dr. med.), Paluszkiewicz, Lech, Blanz, Ute (Dr. med.), Sandica, Eugen (Dr. med.), Bogaerdt, Antoon J. van den, Tintelen, J. Peter van (Prof. Dr.), Gummert, Jan (Prof. Dr. med.), Milting, Hendrik (Prof. Dr. rer. nat.)

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

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3579::1aab3c1d3a6ac8af47860574b82eb109
https://hss-opus.ub.ruhr-uni-bochum.de/opus4/frontdoor/index/index/docId/7362

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(\textit {In vitro}\) functional analyses of arrhythmogenic right ventricular cardiomyopathy-associated desmoglein-2-missense variations

Autor: Gärtner-Rommel, Anna (Dr. rer. nat.), Klauke, Bärbel, Stork, Ines, Niehaus, Karsten (Prof. Dr.), Niemann, Gesa, Gummert, Jan (Prof. Dr. med.), Milting, Hendrik (Prof. Dr. rer. nat.)

\(\textit {Background}\): Although numerous sequence variants in desmoglein-2 (DSG2) have been associated with arrhythmogenic right ventricular cardiomyopathy (ARVC), the functional impact of new sequence variations is difficult to estimate. \(\texti

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3579::bc2d5c0d67fe1107c7416b2d396c22d8
https://hss-opus.ub.ruhr-uni-bochum.de/opus4/frontdoor/index/index/docId/7218

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