Affiliation: Humboldt University
- Growth hormone treatment in dilated cardiomyopathyA Perrot
Charitz Franz Volhard Klinik am Max Delbrück Centrum für Molekulare Medizin, Humboldt Universitat zu Berlin, Germany
J Card Surg 16:127-31. 2001..There is a marked increase in LV mass in patients with dilated cardiomyopathy given GH. Changes in LV mass are related to changes in serum IGF-1 concentrations...
- Gene expression analysis of human tissue from patients with cardiomyopathies: a new tool for guiding therapies in the future?Andreas Perrot
Charité Universitätsmedizin Berlin Kardiologie am Campus Buch and Virchow Klinikum, und Max Delbrück Centrum für Molekulare Medizin, Berlin, Germany
J Card Surg 20:S17-9. 2005..The long-term goal is to find a tool that will help to guide medical and surgical therapies in cardiomyopathies and other heart diseases...
- [Cardiac manifestations of muscular dystrophies]A Perrot
Charite, Universitatsmedizin Berlin, Kardiologie am Campus Virchow Klinikum und Campus Buch und Max Delbrück Centrum für Molekulare Medizin, Wiltbergstr 50, 13125 Berlin, Germany
Z Kardiol 94:312-20. 2005..There is a strong need for a close collaboration between neurologists and cardiologists in order to provide optimal disease management for the affected patients...
- Prevalence of cardiac beta-myosin heavy chain gene mutations in patients with hypertrophic cardiomyopathyAndreas Perrot
Kardiologie am Campus Buch und Virchow Klinikum, Charité Universitätsmedizin Berlin und Max Delbrück Centrum für Molekulare Medizin, Wiltbergstrasse 50, 13125 Berlin, Germany
J Mol Med (Berl) 83:468-77. 2005..The increasing application of genetic screening and the increasing knowledge about genotype-phenotype correlations will hopefully lead to an improved clinical management of HCM patients...
- Investigation of a family with autosomal dominant dilated cardiomyopathy defines a novel locus on chromosome 2q14-q22M Jung
Mikrosatellitenzentrum, Max Delbrück Centrum, Berlin, Germany
Am J Hum Genet 65:1068-77. 1999..73 at recombination fraction 0 at D2S2339. The identification of an additional locus for familial autosomal dominant DCM underlines the genetic heterogeneity and may assist in the elucidation of the causes of this disease...
- [Genetics of dilated cardiomyopathy]K J Osterziel
Franz Volhard Klinik Charité Humboldt Universität zu Berlin 13122 Berlin, Germany
Z Kardiol 90:461-9. 2001..Better understanding of the expression and function of disease genes may eventually result in new diagnostic and therapeutic tools in order to improve the prognosis of this severe disorder...
- Genetic and phenotypic analysis of dilated cardiomyopathy with conduction system disease: demand for strategies in the management of presymptomatic lamin A/C mutant carriersAndreas Perrot
Charité Universitätsmedizin Berlin Kardiologie am Campus Buch and Virchow Klinikum, und Max Delbrück Centrum für Molekulare Medizin, Wiltbergstr 50, 13125 Berlin, Germany
Eur J Heart Fail 8:484-93. 2006..One-third of cases of dilated cardiomyopathy (DCM) is of familial aetiology. Several genes have been reported to cause the autosomal dominant form of DCM...
- Deletion of Glu at codon 13 in the TCAP gene encoding the Z-disc protein titin-cap/telethonin is a rare non-synonymous polymorphismAndreas Perrot
Mol Genet Metab 88:199-200. 2006
- Novel sequence variants in dysferlin-deficient muscular dystrophy leading to mRNA decay and possible C2-domain misfoldingKatrin Wenzel
Department of Cardiology, Franz Volhard Clinic, Helios Clinic, Berlin, Germany
Hum Mutat 27:599-600. 2006..Nonsense mediated RNA decay or changes in the three-dimensional protein structure resulting in intracellular dysferlin aggregates and finally the lack of dysferlin protein were identified as consequences of the novel DYSF variants...
- Composite polymorphisms in the ryanodine receptor 2 gene associated with arrhythmogenic right ventricular cardiomyopathyHendrik Milting
Herz und Diabeteszentrum NRW, Klinik der Ruhr Universität Bochum, Erich und Hanna Klessmann Institut für Kardiovaskuläre Forschung und Entwicklung, GeorgStr 11, 32545 Bad Oeynhausen, Germany
Cardiovasc Res 71:496-505. 2006..Mutations in the cardiac ryanodine receptor (RYR2) gene have been reported to cause arrhythmogenic right ventricular cardiomyopathy (ARVC). The molecular mechanisms by which genetic modifications lead to ARVC are still not well understood...
- Is there a common genetic basis for all familial cardiomyopathies?Andreas Perrot
Eur J Heart Fail 9:4-6. 2007
- Mutations in MYOZ1 as well as MYOZ2 encoding the calsarcins are not associated with idiopathic and familial dilated cardiomyopathyMaximilian G Posch
Mol Genet Metab 91:207-8. 2007
- A DNA resequencing array for pathogenic mutation detection in hypertrophic cardiomyopathySiv Fokstuen
Genetic Medicine, University Hospitals of Geneva, Geneva, Switzerland
Hum Mutat 29:879-85. 2008..The high-throughput HCM resequencing array is the most rapid and cost-effective tool for molecular testing of HCM to date; it thus has considerable potential in diagnostic and predictive testing, and prognostic stratification...
- Beyond the sarcomere: CSRP3 mutations cause hypertrophic cardiomyopathyChristian Geier
Charite Universitatsmedizin Berlin, Campus Virchow Klinikum, Med Klinik m S Kardiologie, 13353 Berlin, Germany
Hum Mol Genet 17:2753-65. 2008..Our results support the view that HCM is not exclusively a sarcomeric disease and also suggest that impaired mechano-sensory stress signalling might be involved in the pathogenesis of HCM...
- Systematic analysis of the regulatory and essential myosin light chain genes: genetic variants and mutations in hypertrophic cardiomyopathyZhyldyz T Kabaeva
Charité Kardiologie, Campus Buch und Virchow Klinikum, Humboldt Universitat zu Berlin, Germany
Eur J Hum Genet 10:741-8. 2002..In conclusion, myosin light chain mutations are a very rare cause of HCM responsible for about 1% of cases. Mutations in MYL2 could be associated with both benign and malignant HCM phenotype...
- [Familial dilated cardiomyopathy]Karl Josef Osterziel
Medizinische Klinik mit Schwerpunkt Molekulare und Klinische Kardiologie, Campus Virchow Klinikum, Berlin
Herz 30:529-34. 2005..Until then, clinical examination of family members and, in case of familial DCM, genetic counseling are recommended in the work-up of patients with idiopathic DCM...
- A missense variant in desmoglein-2 predisposes to dilated cardiomyopathyMaximilian G Posch
Experimental and Clinical Research Center ECRC, Max Delbruck Center for Molecular Medicine, Berlin, Germany
Mol Genet Metab 95:74-80. 2008..Thus, our study identified the DSG2-V55M polymorphism as a novel risk variant for DCM associated with shortened desmosomes of the cardiac intercalated disc...
- Dilated cardiomyopathy: more genes means more phenotypesKarl Josef Osterziel
Eur Heart J 26:751-4. 2005
- [Molecular basis of heart failure and dilated cardiomyopathy]Karl Josef Osterziel
Universitatsklinikum Charite, Kardiologie am Campus Virchow Klinkum und Campus Buch, Berlin
Herz 27:816-8. 2002..Better understanding of the expression and function of disease genes may lead to new diagnostic and therapeutic tools...
- Expression profiling of human idiopathic dilated cardiomyopathyRafal Grzeskowiak
Max Planck Institute for Molecular Genetics, Ihnestr 73, 14195 Berlin, Germany
Cardiovasc Res 59:400-11. 2003..By hierarchical clustering and functional annotation of the deregulated genes we examined extensive changes in the cellular and molecular processes associated to DCM...
- Mutations in the human muscle LIM protein gene in families with hypertrophic cardiomyopathyChristian Geier
Universitätsklinikum Charité Kardiologie am Campus Buch und Virchow Klinikum, Humboldt Universitat zu Berlin, Berlin, Germany
Circulation 107:1390-5. 2003..MLP-knockout mice develop a marked cardiac hypertrophy reaction and dilated cardiomyopathy (DCM). MLP is therefore a candidate gene for heritable forms of hypertrophic cardiomyopathy (HCM) and DCM in humans...
- Sequence analysis of myozenin 2 in 438 European patients with familial hypertrophic cardiomyopathyMaximilian G Posch
Department of Cardiology Charite, Universitatsmedizin Berlin, Campus Virchow, Berlin, Germany
Med Sci Monit 14:CR372-4. 2008..Very recently mutations in MYOZ2 were reported as a cause for HCM. To assess the prevalence of MYOZ2 mutations among European HCM patients, coding exons weree analyzed for genetic variants in 438 patients...
- Fabry disease: focus on cardiac manifestations and molecular mechanismsAndreas Perrot
University Hospital Charite, Cardiology at Campus Virchow Klinikum and Campus Buch, Humboldt University Berlin, Germany
Herz 27:699-702. 2002..This enzyme replacement therapy could be one of the first examples for causal treatment of left ventricular hypertrophy. Therefore, early diagnosis of hypertrophy patients with the cardiac variant of Fabry disease is important...
- Mutations in GATA4, NKX2.5, CRELD1, and BMP4 are infrequently found in patients with congenital cardiac septal defectsMaximilian G Posch
Charite Universitatsmedizin Berlin, Cardiology at Campus Buch and Helios Klinikum Berlin Buch and Max Delbrück Center for Molecular Medicine, Berlin, Germany
Am J Med Genet A 146:251-3. 2008
- Letter by Geier et al regarding article, "Hypertrophic cardiomyopathy is predominantly a disease of left ventricular outflow tract obstruction"Christian Geier
Circulation 115:e622; author reply e623. 2007
- The G-231A polymorphism in the endothelin-A receptor gene is associated with lower aortic pressure in patients with dilated cardiomyopathyRalph Telgmann
Leibniz Institute for Arteriosclerosis Research, Department of Molecular Genetics of Cardiovascular Disease, University of Muenster, Domagkstrasse 3, D 48149 Muenster, Germany
Am J Hypertens 20:32-7. 2007..The aim of this study was to determine whether polymorphisms in the ET(A) receptor gene might be associated with the severity of DCM...
- Mutations in the EGF-CFC gene cryptic are an infrequent cause of congenital heart diseaseCemil Ozcelik
Max Delbruck Center for Molecular Medicine, Robert Roessle Strasse 10, 13125, Berlin, Germany
Pediatr Cardiol 27:695-8. 2006..We conclude that CFC1 variants could be a rare cause of congenital heart disease in patients without laterality defects...
- Effects of ACE gene insertion/deletion polymorphism on response to spironolactone in patients with chronic heart failureMariantonietta Cicoira
Dipartimento di Scienze Biomediche e Chirurgiche, Sezione di Cardiologia, Universita degli Studi di Verona, Verona, Italy
Am J Med 116:657-61. 2004..We hypothesized that the benefits of spironolactone, which inhibits downstream elements of ACE-mediated abnormalities, may depend on ACE genotype...
- Hypertrophic cardiomyopathy-related beta-myosin mutations cause highly variable calcium sensitivity with functional imbalances among individual muscle cellsSebastian E Kirschner
Molecular and Cell Physiology, Medical School Hannover, Germany
Am J Physiol Heart Circ Physiol 288:H1242-51. 2005..More importantly, the variability in pCa(50) from fiber to fiber is likely to cause imbalances in force generation and be the primary cause for contractile dysfunction and development of disarray in the myocardium...
- Hypertrophic cardiomyopathy in a Portuguese population: mutations in the myosin-binding protein C geneNuno Cardim
Servico de Cardiologia, Hospital Pulido Valente, Lisboa, Portugal
Rev Port Cardiol 24:1463-76. 2005..Until now, however, no systematic review has been published on mutations of this gene in a Portuguese population...
- Usefulness of Doppler myocardial imaging for identification of mutation carriers of familial hypertrophic cardiomyopathyNuno Cardim
Department of Cardiology, Hospital Pulido Valente, Lisbon, Portugal
Am J Cardiol 90:128-32. 2002..These results show that DMI is more sensitive than conventional echocardiography and establishes a new and highly accurate method for the noninvasive screening of MCs of the disease...
- Calcineurin in human heart hypertrophyOliver Ritter
Department of Medicine, University of Wuerzburg, Germany
Circulation 105:2265-9. 2002..In contrast, few data are available about calcineurin activity in patients with pressure overload or cardiomyopathic hypertrophy who are not in cardiac failure...