Genomes and Genes
Affiliation: University of Colorado Denver
- Genetics and genetic testing of dilated cardiomyopathy: a new perspectiveLuisa Mestroni
Cardiovascular Institute, University of Colorado, Aurora, CO 80305, USA
Discov Med 15:43-9. 2013..It can also guide reproductive decision-making including utilization of pre-implantation genetic diagnostic strategies...
- Heart failure and personalized medicineLuisa Mestroni
University of Colorado Cardiovascular Institute, Aurora, Colorado, USA
J Cardiovasc Med (Hagerstown) 12:6-12. 2011....
- SCN5A mutations associate with arrhythmic dilated cardiomyopathy and commonly localize to the voltage-sensing mechanismWilliam P McNair
Cardiovascular Institute, University of Colorado Denver, Aurora, Colorado 80045 6511, USA
J Am Coll Cardiol 57:2160-8. 2011..The aim of this study was to discern the role of the cardiac voltage-gated sodium ion channel SCN5A in the etiology of dilated cardiomyopathy (DCM)...
- Thymopoietin (lamina-associated polypeptide 2) gene mutation associated with dilated cardiomyopathyMatthew R G Taylor
CU Cardiovascular Institute, University of Colorado Health Sciences Center, Denver, Colorado, USA
Hum Mutat 26:566-74. 2005..The Arg690Cys mutation altered the observed LAP2alpha interaction with A-type lamins. Our finding implicates a novel nuclear lamina-associated protein in the pathogenesis of genetic forms of dilated cardiomyopathy...
- Genetic variation in titin in arrhythmogenic right ventricular cardiomyopathy-overlap syndromesMatthew Taylor
Adult Medical Genetics Program and Division of Cardiology, University of Colorado Denver, Aurora, USA
Circulation 124:876-85. 2011..We evaluated the cardiomyopathy gene titin (TTN) as a candidate ARVC gene because of its proximity to an ARVC locus at position 2q32 and the connection of the titin protein to the transitional junction at intercalated disks...
- Danon disease presenting with dilated cardiomyopathy and a complex phenotypeMatthew R G Taylor
University of Colorado at Denver and Health Sciences Center, Aurora, CO, USA
J Hum Genet 52:830-5. 2007..Furthermore, the absence of vacuolar myopathy in biopsies from young patients may not exclude Danon disease...
- Pharmacogenetic effect of an endothelin-1 haplotype on response to bucindolol therapy in chronic heart failureMatthew R G Taylor
University of Colorado Denver, Aurora, CO, USA
Pharmacogenet Genomics 19:35-43. 2009..We hypothesized that variation in genes of the endothelin system mediate the clinical response to beta-blockers in heart failure...
- Cardiomyopathy, familial dilatedMatthew R G Taylor
University of Colorado Cardiovascular Institute and Adult Medical Genetics Program, Department of Internal Medicine, University of Colorado Health Sciences Center, Denver, Colorado, USA
Orphanet J Rare Dis 1:27. 2006..Patients with severe heart failure, severe reduction of the functional capacity and depressed left ventricular ejection fraction have a low survival rate and may require heart transplant...
- Analysis of genetic variations of lamin A/C gene (LMNA) by denaturing high-performance liquid chromatographyMatthew R G Taylor
University of Colorado Cardiovascular Institute, Denver, USA
J Biomol Screen 9:625-8. 2004..LMNA mutations are clinically relevant in at least 6 human diseases. This study provides a protocol for high-throughput LMNA analysis applicable both in the research and in the clinical diagnostic setting...
- SCN5A mutation associated with dilated cardiomyopathy, conduction disorder, and arrhythmiaWilliam P McNair
University of Colorado Cardiovascular Institute, Denver, Colo, USA
Circulation 110:2163-7. 2004....
- Natural history of dilated cardiomyopathy due to lamin A/C gene mutationsMatthew R G Taylor
University of Colorado Cardiovascular Institute, Denver, Colorado 80010, USA
J Am Coll Cardiol 41:771-80. 2003..We examined the prevalence, genotype-phenotype correlation, and natural history of lamin A/C gene (LMNA) mutations in subjects with dilated cardiomyopathy (DCM)...
- Utility of cardiac magnetic resonance imaging to differentiate cardiac sarcoidosis from arrhythmogenic right ventricular cardiomyopathyDavid A Steckman
Section of Cardiac Electrophysiology, University of Colorado, Denver, Colorado, USA
Am J Cardiol 110:575-9. 2012..The presence of mediastinal lymphadenopathy and left ventricular septal scar favors a diagnosis of CS and not ARVC. Consideration of CS should be given if these MRI findings are observed during the evaluation for possible ARVC...
- Familial hypertrophic cardiomyopathy: clinical features, molecular genetics and molecular genetic testingMatthew R G Taylor
Adult medical Genetics Clinic, Department of Internal Medicine, UCHSC, Aurora, Colorado 80010, USA
Expert Rev Mol Diagn 4:99-113. 2004..In this review, the clinical and molecular genetics of hypertrophic cardiomyopathy are described...
- Pharmacogenomics, personalized medicine, and heart failureLuisa Mestroni
Cardiovascular Institute and Adult Medical Genetics, University of Colorado, Aurora, USA
Discov Med 11:551-61. 2011....
- Ophthalmic manifestations of Danon diseaseF Ryan Prall
Department of Ophthalmology, University of Colorado, Aurora, Colorado, USA
Ophthalmology 113:1010-3. 2006..To describe the ophthalmic findings in patients with Danon disease, an X-linked condition causing cardiomyopathy in males and females...
- [Dilated cardiomyopathy: etiology, clinical criteria for diagnosis and screening of the familial form]Umberto Startari
University of Colorado Cardiovascular Institute, Adult Medical Genetics Program, Department of Internal Medicine, University of Colorado Health Sciences Center, Denver, CO, USA
Ital Heart J Suppl 3:378-85. 2002..The family screening should be followed-up every 2 to 3 years, in particular in unaffected relatives (in the absence of a molecular diagnosis), to exclude a late onset of the disease...