Genomes and Genes
Affiliation: University of Regensburg
- Mutation spectrum in a large cohort of unrelated consecutive patients with hypertrophic cardiomyopathyJ Erdmann
Department of Internal Medicine II Cardiology, University of Regensburg, Regensburg, Germany
Clin Genet 64:339-49. 2003..Systematic mutation screening in large samples of HCM patients leads to a genetic diagnosis in about 30% of unrelated index patients and in about 57% of patients with a positive family history...
- KCNJ11 polymorphisms and sudden cardiac death in patients with acute myocardial infarctionA Jeron
Klinik und Poliklinik fur Innere Medizin II, Klinikum der Universitat Regensburg, Franz Josef Strauss Allee 11, Regensburg 93042, Germany
J Mol Cell Cardiol 36:287-93. 2004..Opening of the K(ATP) channel during ischemia results in action potential shortening in various studies and may therefore influence the outcome of AMI patients...
- The human serotonin 7 (5-HT7) receptor gene: genomic organization and systematic mutation screening in schizophrenia and bipolar affective disorderJ Erdmann
Institute of Human Genetics, University of Bonn, Germany
Mol Psychiatry 1:392-7. 1996..Our data suggests that genetic variation of the 5-HT7 receptor does not play a major role in the development of bipolar affective disorder and schizophrenia...
- Lack of association between polymorphisms of angiotensin II receptor genes and response to short-term angiotensin II infusionC Delles
Department of Medicine and Nephrology, University of Erlangen Nurnberg, Germany
J Hypertens 18:1573-8. 2000..In this study, we examined the short-term effects of genetic polymorphisms of the angiotensin II AT1 - and AT2-receptor subtypes in humans by means of angiotensin II infusion...
- APOE alleles are not associated with calcific aortic stenosisJ R Ortlepp
Interdisciplinary Intermediate Care, University Hospital of Aachen, Pauwelsstrasse 30, D 52057 Aachen, Germany
Heart 92:1463-6. 2006..To analyse the association of APOE alleles with aortic stenosis (AS) in a large study population...
- Spectrum of clinical phenotypes and gene variants in cardiac myosin-binding protein C mutation carriers with hypertrophic cardiomyopathyJ Erdmann
Department of Internal Medicine, Charite, Humboldt University and Deutsches Herzzentrum, Berlin, Germany
J Am Coll Cardiol 38:322-30. 2001..We studied the clinical and genetic features of hypertrophic cardiomyopathy (HCM) caused by mutations in the myosin-binding protein C gene (MYBPC3) in 110 consecutive, unrelated patients and family members of European descent...
- Systematic screening for mutations in the human serotonin-2A (5-HT2A) receptor gene: identification of two naturally occurring receptor variants and association analysis in schizophreniaJ Erdmann
Institute of Human Genetics, University of Bonn, Germany
Hum Genet 97:614-9. 1996..However, the reported association of the non-coding polymorphism 102T/C with the disease has also been detected in our sample (P=0.041, odds ratio=1.28, 95% confidence interval 1.012-1.623)...
- Robust association of the APOE epsilon4 allele with premature myocardial infarction especially in patients without hypercholesterolaemia: the Aachen studyF Schmitz
University Hospital of Aachen, Germany
Eur J Clin Invest 37:106-8. 2007..From many candidate genes the APOE (apolipoprotein E) with the major alleles epsilon2/epsilon3/epsilon4 is in the focus of interest...
- Well kept secrets of the genomeH Schunkert
Eur Heart J 24:501-3. 2003
- Outcome of clinical versus genetic family screening in hypertrophic cardiomyopathy with focus on cardiac beta-myosin gene mutations: prediction of clinical status--is molecular genetics a new tool for the management of hypertrophic cardiomyopathy in cliniC Hengstenberg
Cardiovasc Res 57:298-301. 2003
- Aldosterone synthase (CYP11B2) -344 C/T polymorphism is associated with left ventricular structure in human arterial hypertensionC Delles
Department of Medicine/Nephrology, University of Erlangen, , Germany
J Am Coll Cardiol 37:878-84. 2001..Differences in renal sodium handling across the genotypes might contribute to this finding...
- Effect of the angiotensin II type 2-receptor gene (+1675 G/A) on left ventricular structure in humansR E Schmieder
Department of Medicine IV Nephrology, University of Erlangen Nurnberg, Germany
J Am Coll Cardiol 37:175-82. 2001..Our study goal was to analyze whether gene variants of angiotensin II type 2-receptor (AT2-R) modulate the effects of angiotensin II on the left ventricle (LV)...
- Functional gene testing of the Glu298Asp polymorphism of the endothelial NO synthaseM P Schneider
Department of Medicine Nephrology, University of Erlangen Nurnberg, Germany
J Hypertens 18:1767-73. 2000..To test whether the Glu298Asp polymorphism of the endothelial nitric oxide synthase (eNOS) gene is of functional relevance in humans by altering endothelium-dependent vasodilation...
- Genetic variants in the promoter (g983G>T) and coding region (A92T) of the human cardiotrophin-1 gene (CTF1) in patients with dilated cardiomyopathyJ Erdmann
Department of Internal Medicine and Cardiology, Charit, CVK, Humboldt University Berlin and Deutsches Herzzentrum Berlin, Germany
Hum Mutat 16:448. 2000
- [Congestive heart failure is a common disease with complex inheritance--new perspectives through genome wide association studies]P Linsel-Nitschke
Medizinische Klinik II, Universitat zu Lubeck, Ratzeburger Allee 160, 23538, Lubeck, Germany
Internist (Berl) 49:405-10, 412. 2008..This review article will focus on congestive heart failure as a complex trait and will discuss the impact of new technology (genome wide association studies) on the elucidation of common genetic risk factors for congestive heart failure...