M R G Taylor
Affiliation: University of Colorado Health Sciences Center
- Use of the Internet by patients and their families to obtain genetics-related informationM R Taylor
Division of Genetics and Metabolism, University of Colorado Health Sciences Center, Denver 80218, USA
Mayo Clin Proc 76:772-6. 2001..To characterize use of the Internet by patients and their families referred to general genetics clinics...
- Pharmacogenetics of the human beta-adrenergic receptorsM R G Taylor
Adult Medical Genetics Program, University of Colorado at Denver and Health Sciences, Aurora, CO 80045, USA
Pharmacogenomics J 7:29-37. 2007..This paper reviews the current state of knowledge and understanding of ADRB genetic variation and explores the likely direction of future studies in this area...
- 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...
- Lost in transition: challenges in the expanding field of adult geneticsMatthew R G Taylor
Adult Medical Genetics Program, Department of Medicine, University of Colorado Health Sciences, 12635 East Montview Boulevard, Aurora, CO 80045, USA
Am J Med Genet C Semin Med Genet 142:294-303. 2006..Potential solutions and the practicality of implementation of a team-based approach to adult genetic medicine, including the application of genetic counseling, are also discussed...
- Prevalence of desmin mutations in dilated cardiomyopathyMatthew R G Taylor
University of Colorado at Denver and Health Sciences Center, Denver, Colo, USA
Circulation 115:1244-51. 2007..Mutations in the central 2B domain of DES cause skeletal muscle disease that typically precedes cardiac involvement. However, the prevalence of DES mutations in dilated cardiomyopathy (DCM) without skeletal muscle disease is not known...
- The emerging pharmacogenomics of the beta-adrenergic receptorsMatthew R G Taylor
CU Cardiovascular Institute, Division of Cardiology, Adult Medical Genetics Program, University of Colorado Health Sciences Center, Aurora, CO, USA
Congest Heart Fail 10:281-8. 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...
- 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...
- 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...
- 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)...
- Management of polycystic liver diseaseGregory T Everson
Division of Gastroenterology and Hepatology, University of Colorado School of Medicine, 4200 East Ninth Avenue, B 154, Denver, CO 80262, USA
Curr Gastroenterol Rep 7:19-25. 2005..There is no effective medical therapy. Treatment options include cyst aspiration and sclerosis, open or laparoscopic cyst fenestration, hepatic resection, and liver transplantation...
- Modifier genes play a significant role in the phenotypic expression of PKD1Pamela R Fain
Barbara Davis Center for Childhood Diabetes, University of Colorado Health Sciences Center, Denver, Colorado 80262, USA
Kidney Int 67:1256-67. 2005..There are significant familial phenotype differences; but it is not clear if this is due to differences in PKD1 mutations, differences in genetic background, or both...
- Polycystic disease of the liverGregory T Everson
Division of Gastroenterology and Hepatology, University of Colorado School of Medicine, Denver, CO 80262, USA
Hepatology 40:774-82. 2004..There is no effective medical therapy. Interventional and surgical options include cyst aspiration and sclerosis, open or laparoscopic cyst fenestration, hepatic resection, and liver transplantation...
- 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....
- 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...
- High prevalence of array comparative genomic hybridization abnormalities in adults with unexplained intellectual disabilityMatthew R G Taylor
Department of Medicine, Adult Medical Genetics Program, University of Colorado Denver, Denver, Colorado, USA
Genet Med 12:32-8. 2010..Here, we report our initial experience with array comparative genomic hybridization testing on 45 adults with unexplained intellectual disability referred to an adult genetics clinic...
- Obesity-associated hypoventilation in hospitalized patients: prevalence, effects, and outcomeSogol Nowbar
University of Colorado Health Sciences Center, Denver, Colorado, USA
Am J Med 116:1-7. 2004..0; 95% confidence interval: 1.5 to 10.4]. CONCLUSION: Hypoventilation frequently complicates severe obesity among hospitalized adults and is associated with excess morbidity and mortality...
- [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...
- Alpha-myosin heavy chain: a sarcomeric gene associated with dilated and hypertrophic phenotypes of cardiomyopathyElisa Carniel
Familial Cardiomyopathy Registry Research Group, USA
Circulation 112:54-9. 2005..In failing human hearts, downregulation of alphaMyHC mRNA or protein has been correlated with systolic dysfunction. We hypothesized that mutations in alphaMyHC could also lead to pleiotropic cardiac phenotypes, including HCM and DCM...
- Unifying nomenclature for the isoforms of the lysosomal membrane protein LAMP-2Eeva Liisa Eskelinen
University of Kiel, Institute of Biochemistry, Kiel, Germany
Traffic 6:1058-61. 2005..To avoid confusion in the literature, we further propose to adopt the use of capital letters for the updated nomenclature of all the isoforms in all three species: LAMP-2A, LAMP-2B, and LAMP-2C...
- Cardiomyopathy and carnitine deficiencyCristina Amat di San Filippo
Division of Medical Genetics, Departments of Pediatrics and Pathology, University of Utah, 2C412 SOM, 50 North Medical Drive, Salt Lake City, UT 84132, USA
Mol Genet Metab 94:162-6. 2008..These results indicate that heterozygosity for primary carnitine deficiency is not more frequent in patients with unselected types of cardiomyopathy and is unlikely to be an important cause of cardiomyopathy in humans...
- Lamin A/C gene and the heart: how genetics may impact clinical careLuisa Mestroni
J Am Coll Cardiol 52:1261-2. 2008
- Familial Dilated Cardiomyopathy:Genetic CharacterizationMatthew Taylor; Fiscal Year: 2006..In addition, a diverse collection of consultants has been assembled to provide ongoing expertise that is sensitive to the needs of both the research and career development plans of the candidate. ..