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...
- Whole exome sequencing identifies a troponin T mutation hot spot in familial dilated cardiomyopathyNzali Campbell
Cardiovascular Institute and Adult Medical Genetics, University of Colorado, Aurora, Colorado, United States of America
PLoS ONE 8:e78104. 2013..In conclusion, an exome sequencing strategy that includes segregation analysis using distant affected relatives within a family represents a viable diagnostic strategy in a genetically heterogeneous disease like DCM. ..
- Poor prognosis of rare sarcomeric gene variants in patients with dilated cardiomyopathyMarco Merlo
Cardiovascular Institute and Adult Medical Genetics, University of Colorado, Aurora, Colorado, USA Cardiovascular Department Ospedali Riuniti, and University of Trieste, Trieste, Italy
Clin Transl Sci 6:424-8. 2013..To address this question, we analyzed the outcome of rare sarcomeric gene variants in patients enrolled in our Familial Cardiomyopathy Registry...
- 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...
- 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....
- 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...
- 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...
- Pharmacogenomics, personalized medicine, and heart failureLuisa Mestroni
Cardiovascular Institute and Adult Medical Genetics, University of Colorado, Aurora, USA
Discov Med 11:551-61. 2011....
- 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...
- Pharmacogenetics of heart failureLuisa Mestroni
University of Colorado Cardiovascular Institute and Adult Medical Genetics Program, Aurora, Colorado, USA
Curr Opin Cardiol 29:227-34. 2014....
- 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...