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Giulia Mearini
University of Hamburg
34Publications
16H-index
823Citations
Publications 34
Newest
Published on May 1, 2019in Pflügers Archiv: European Journal of Physiology 2.77
Maksymilian Prondzynski6
Estimated H-index: 6
(University of Hamburg),
Giulia Mearini16
Estimated H-index: 16
(University of Hamburg),
Lucie Carrier43
Estimated H-index: 43
(University of Hamburg)
Hypertrophic cardiomyopathy (HCM) is an inherited myocardial disease with an estimated prevalence of 1:200 caused by mutations in sarcomeric proteins. It is associated with hypertrophy of the left ventricle, increased interstitial fibrosis, and diastolic dysfunction for heterozygous mutation carriers. Carriers of double heterozygous, compound heterozygous, and homozygous mutations often display more severe forms of cardiomyopathies, ultimately leading to premature death. So far, there is no cura...
1 Citations Source Cite
Published on Apr 24, 2019in Human Mutation 5.36
Konstantinos Kolokotronis , Jirko Kühnisch (Max Delbrück Center for Molecular Medicine)+ 8 AuthorsSabine Klaassen (Humboldt University of Berlin)
Source Cite
Published on Mar 28, 2019in Frontiers in Physiology 3.39
Nico Kresin1
Estimated H-index: 1
,
Sabrina Stücker1
Estimated H-index: 1
+ 7 AuthorsFelix W. Friedrich13
Estimated H-index: 13
Source Cite
Published on May 11, 2017in Nature Protocols 12.42
Kaja Breckwoldt7
Estimated H-index: 7
,
David Letuffe-Brenière2
Estimated H-index: 2
+ 19 AuthorsSandra Laufer2
Estimated H-index: 2
This protocol describes how to generate defined embryoid bodies and subsequent standardized beating engineered heart tissue from human iPSCs using small molecules.
28 Citations Source Cite
Published on Jun 1, 2017in Molecular therapy. Nucleic acids 5.66
Maksymilian Prondzynski6
Estimated H-index: 6
(University of Hamburg),
Elisabeth Krämer10
Estimated H-index: 10
(University of Hamburg)
+ 11 AuthorsHansenArne23
Estimated H-index: 23
(University of Hamburg)
Gene therapy is a promising option for severe forms of genetic diseases. We previously provided evidence for the feasibility of trans -splicing, exon skipping, and gene replacement in a mouse model of hypertrophic cardiomyopathy (HCM) carrying a mutation in MYBPC3 , encoding cardiac myosin-binding protein C (cMyBP-C). Here we used human induced pluripotent stem cell-derived cardiomyocytes (hiPSC-CMs) from an HCM patient carrying a heterozygous c.1358-1359insC MYBPC3 mutation and from a healthy d...
18 Citations Source Cite
Published on Oct 1, 2016in Journal of Cardiac Failure 3.94
Julia Münch5
Estimated H-index: 5
,
Maxim Avanesov7
Estimated H-index: 7
(University of Hamburg)
+ 7 AuthorsMonica Patten4
Estimated H-index: 4
Abstract Background Hypertrophic cardiomyopathy (HCM) is associated with an increased risk of sudden cardiac death due to ventricular tachycardia (VT), and myocardial fibrosis reflects an important risk factor. Several matrix metalloproteinases (MMPs) and procollagen N-terminal propeptides (PNPs) are involved in collagen turnover and discussed as fibrosis biomarkers. We aimed to identify biomarkers that correlate with myocardial fibrosis in late-gadolinium-enhancement cardiac magnetic resonance ...
9 Citations Source Cite
Published on Aug 1, 2016in Journal of Molecular and Cellular Cardiology 5.30
Paul J.M. Wijnker12
Estimated H-index: 12
(University of Hamburg),
Felix W. Friedrich13
Estimated H-index: 13
(University of Hamburg)
+ 7 AuthorsLucie Carrier43
Estimated H-index: 43
(University of Hamburg)
Abstract Hypertrophic cardiomyopathy (HCM) is a cardiac genetic disease characterized by left ventricular hypertrophy, diastolic dysfunction and myocardial disarray. The most frequently mutated gene is MYBPC3 , encoding cardiac myosin-binding protein-C (cMyBP-C). We compared the pathomechanisms of a truncating mutation (c.2373_2374insG) and a missense mutation (c.1591G>C) in MYBPC3 in engineered heart tissue (EHT). EHTs enable to study the direct effects of mutants without interference of second...
13 Citations Source Cite
Published on Dec 1, 2015in Gene 2.50
Lucie Carrier43
Estimated H-index: 43
(University of Hamburg),
Giulia Mearini16
Estimated H-index: 16
(University of Hamburg)
+ 1 AuthorsFriederike Cuello6
Estimated H-index: 6
(University of Hamburg)
Abstract More than 350 individual MYPBC3 mutations have been identified in patients with inherited hypertrophic cardiomyopathy (HCM), thus representing 40–50% of all HCM mutations, making it the most frequently mutated gene in HCM. HCM is considered a disease of the sarcomere and is characterized by left ventricular hypertrophy, myocyte disarray and diastolic dysfunction. MYBPC3 encodes for the thick filament associated protein cardiac myosin-binding protein C (cMyBP-C), a signaling node in card...
46 Citations Source Cite
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