Genomes and Genes
Affiliation: Baylor College of Medicine
- Genetic and biophysical basis of sudden unexplained nocturnal death syndrome (SUNDS), a disease allelic to Brugada syndromeMatteo Vatta
Department of Pediatrics Cardiology, Baylor College of Medicine, Houston, TX 77030, USA
Hum Mol Genet 11:337-45. 2002..Based upon these observations we suggest that SUNDS and Brugada syndrome are phenotypically, genetically and functionally the same disorder...
- Syntrophin mutation associated with long QT syndrome through activation of the nNOS-SCN5A macromolecular complexKazuo Ueda
Department of Medicine, University of Wisconsin, Madison, WI 53792, USA
Proc Natl Acad Sci U S A 105:9355-60. 2008..These results establish an SNTA1-based nNOS complex attached to SCN5A as a key regulator of sodium current and suggest that SNTA1 be considered a rare LQTS-susceptibility gene...
- Remodeling of dystrophin and sarcomeric Z-band occurs in pediatric cardiomyopathies: a unifying mechanism for force transmission defectMatteo Vatta
Department of Pediatrics Cardiology, Baylor College of Medicine, Houston, Texas, USA
J Cardiovasc Med (Hagerstown) 10:149-56. 2009..Interestingly, dystrophin remodeling has been previously reported to occur in adults with end-stage CMP irrespective of the underlying cause...
- Mutant caveolin-3 induces persistent late sodium current and is associated with long-QT syndromeMatteo Vatta
Department of Pediatrics Cardiology, Baylor College of Medicine, Texas Children s Hospital, Houston, TX 77030, USA
Circulation 114:2104-12. 2006....
- Altered expression of dystrophin within the thoracic aorta in coarctationMatteo Vatta
Department of Pediatrics Cardiology, Baylor College of Medicine, and Texas Children s Hospital, Houston, Texas 77030, USA
Cardiol Young 15:73-4. 2005..Alterations in the cytoskeletal structure may account for underlying aberrations in endothelial function in such patients, and is a topic that warrants further investigation...
- alpha-1-syntrophin mutation and the long-QT syndrome: a disease of sodium channel disruptionGeru Wu
Electrophysiology Research Laboratory, Texas Heart Institute St Luke s Episcopal Hospital, Houston, Texas, USA
Circ Arrhythm Electrophysiol 1:193-201. 2008..5), and we hypothesized that SNTA1 mutations might cause phenotypic LQTS in patients with genotypically normal hNa(v)1.5 by secondarily disturbing sodium channel function...
- A novel SCN5A mutation V1340I in Brugada syndrome augmenting arrhythmias during febrile illnessKaveh Samani
Electrophysiology Research Laboratory, Texas Heart Institute St Luke s Episcopal Hospital, Houston, Texas 77030, USA
Heart Rhythm 6:1318-26. 2009..Febrile illnesses have been recognized to unmask and/or trigger the BrS phenotype. However, the pathophysiological mechanism has not been fully elucidated...
- A ZASP missense mutation, S196L, leads to cytoskeletal and electrical abnormalities in a mouse model of cardiomyopathyZhaohui Li
Department of Pediatrics, Baylor College of Medicine and Texas Children s Hospital, Houston, Tex, USA
Circ Arrhythm Electrophysiol 3:646-56. 2010..Therefore, we investigated the role of the ZASP4 mutation S196L in cardiac cytoarchitecture and ion channel biology...
- Molecular normalization of dystrophin in the failing left and right ventricle of patients treated with either pulsatile or continuous flow-type ventricular assist devicesMatteo Vatta
Department of Pediatrics (Cardiology, Baylor College of Medicine, Houston, Texas 77030, USA
J Am Coll Cardiol 43:811-7. 2004..In addition to improving LV hemodynamics, LVAD therapy results in amelioration of the myocardial structure of the right cardiac chamber...
- Mutations in Cypher/ZASP in patients with dilated cardiomyopathy and left ventricular non-compactionMatteo Vatta
Department of Pediatrics (Cardiology, Baylor College of Medicine, Houston, Texas, USA
J Am Coll Cardiol 42:2014-27. 2003..In vitro studies showed cytoskeleton disarray in cells transfected with mutated Cypher/ZASP. CONCLUSIONS: These data suggest that mutated Cypher/ZASP can cause DCM and INLVM and identify a mechanistic basis...
- Novel mutations in domain I of SCN5A cause Brugada syndromeMatteo Vatta
Department of Pediatrics Cardiology, Baylor College of Medicine, Houston, TX, USA
Mol Genet Metab 75:317-24. 2002..These three new SCN5A mutations in Brugada syndrome patients are all located within domain I of SCN5A, a region not previously considered important in the development of ventricular arrhythmias...
- A nonsense SCN5A mutation associated with Brugada-type electrocardiogram and intraventricular conduction defectsKaveh Samani
Electrophysiology Research Laboratory, Texas Heart Institute St Luke s Episcopal Hospital, Houston, Texas
Pacing Clin Electrophysiol 32:1231-6. 2009..Our study demonstrated that L1393X-SCN5A does not form functional channel proteins, which might account for the patient's mixed phenotypes of BrS and CCD...
- Short-term mechanical unloading and reverse remodeling of failing hearts in childrenBhagyalaxmi Mohapatra
Department of Pediatric Cardiology, Baylor College of Medicine and Texas Children s Hospital, Houston, Texas 77030, USA
J Heart Lung Transplant 29:98-104. 2010..However, there is little knowledge of the changes in gene expression after short-term mechanical support in children with HF...
- Mutations in the muscle LIM protein and alpha-actinin-2 genes in dilated cardiomyopathy and endocardial fibroelastosisBhagyalaxmi Mohapatra
Department of Pediatrics (Section of Cardiology, Baylor College of Medicine, Houston, TX, USA
Mol Genet Metab 80:207-15. 2003..This mutation also disrupted the interaction with MLP and appeared to inhibit alpha-actinin function in cultured cells, in respect to the nuclear localization of actinin and the initiation of cellular differentiation...
- ANKRD1, the gene encoding cardiac ankyrin repeat protein, is a novel dilated cardiomyopathy geneMousumi Moulik
Department of Pediatrics, Division of Cardiology, University of Texas Medical School Houston, Houston, Texas, USA
J Am Coll Cardiol 54:325-33. 2009....
- [Molecular basis of arrhythmias in patients with genetically-based cardiomyopathies: when the cytoskeleton meets the ion channels]Matteo Vatta
Department of Pediatrics Cardiology and Molecular Physiology and Biophysics, Baylor College of Medicine and Texas Children s Hospital, Houston, TX 77030, USA
G Ital Cardiol (Rome) 11:746-52. 2010..These new elements of investigation may allow a better understanding of the arrhythmogenic phenomenon in heart failure patients and facilitate alternative research approaches and innovative clinical applications...
- A common SCN5A variant alters the responsiveness of human sodium channels to class I antiarrhythmic agentsMossaab Shuraih
Electrophysiology Research Laboratory, Texas Heart Institute St Luke s Episcopal Hospital, Houston, Texas 77030, USA
J Cardiovasc Electrophysiol 18:434-40. 2007..However, little is known about the impact of those polymorphisms on the pharmocological response of hNav1.5 to various antiarrhythmic agents...
- Genetics of heart failure and sudden deathMatteo Vatta
Department of Pediatrics Cardiology, Texas Children s Hospital, Baylor College of Medicine, Houston, TX 77030, USA
Heart Fail Clin 6:507-14, ix. 2010..However, elucidating the most influential genetic and environmental determinants that underlie the variable penetrance and expressivity of the primary syndrome-associated mutation remains a daunting task...
- Myocardial Fas ligand expression increases susceptibility to AZT-induced cardiomyopathyEnkhsaikhan Purevjav
Department of Pediatrics, Section of Cardiology, Baylor College of Medicine, Houston, TX 77030, USA
Cardiovasc Toxicol 7:255-63. 2007..Highly active antiretroviral therapy (HAART) has significantly reduced morbidity and mortality of acquired immunodeficiency syndrome (AIDS), but has resulted in an increase in cardiac and skeletal myopathies...
- Genetics and cardiac arrhythmiasJeffrey A Towbin
Department of Pediatrics, Texas Children's Hospital and Baylor College of Medicine, Houston, USA
Adv Pediatr 49:87-129. 2002..Two other disorders, arrhythmogenic right ventricular dysplasia and Wolff-Parkinson-White syndrome, which are on the cusp of understanding, are also described...
- A novel STXBP1 mutation causes focal seizures with neonatal onsetMatteo Vatta
Department of Molecular and Human Genetics, Baylor College of Medicine, TX 77030, USA
J Child Neurol 27:811-4. 2012..931dupT (p.S311FfsX3), in exon 11 of the STXBP1 gene. This previously unreported STXBP1 mutation in a subject with neonatal-onset focal seizures broadens the spectrum of clinically relevant human disorders caused by STXBP1 mutations...
- Coffin-Lowry syndrome and left ventricular noncompaction cardiomyopathy with a restrictive patternHugo R Martinez
The Section of Pediatric Cardiology, Texas Children s Hospital, Houston, Texas, USA
Am J Med Genet A 155:3030-4. 2011..To our knowledge, there have been no previous reports of concomitant CLS and LVNC. On the basis of our case, we suggest that patients with CLS be screened not only for congenital structural heart defects but also for LVNC cardiomyopathy...
- Molecular remodelling of dystrophin in patients with end-stage cardiomyopathies and reversal in patients on assistance-device therapyMatteo Vatta
Departments of Pediatrics-Section of Cardiology, Baylor College of Medicine, Houston, TX, USA
Lancet 359:936-41. 2002....
- Peroxisome proliferator-activated receptor-delta upregulates 14-3-3 epsilon in human endothelial cells via CCAAT/enhancer binding protein-betaLuca Brunelli
Department of Pediatrics, The University of Texas at Houston Medical School, Houston, TX 77030 1503, USA
Circ Res 100:e59-71. 2007....
- LAMP2 microdeletions in patients with Danon diseaseZhao Yang
Department of Pediatrics, Baylor College of Medicine, Texas Children s Hospital, Houston, USA
Circ Cardiovasc Genet 3:129-37. 2010..Because of its rarity, the full spectrum of genetic mutation resulting in Danon disease has not been elucidated...
- Compound and digenic heterozygosity contributes to arrhythmogenic right ventricular cardiomyopathyTianhong Xu
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA
J Am Coll Cardiol 55:587-97. 2010..The aim of this study was to define the genetic basis of arrhythmogenic right ventricular cardiomyopathy (ARVC)...
- Danon disease as a cause of autophagic vacuolar myopathyZhao Yang
Baylor College of Medicine, Department of Pediatrics, Houston, TX 77030, USA
Congenit Heart Dis 2:404-9. 2007..Here we review the clinical features, molecular genetics, related animal model, and differential diagnosis of Danon disease...
- Novel mechanism for sudden infant death syndrome: persistent late sodium current secondary to mutations in caveolin-3Lisa B Cronk
Mayo Medical School, Mayo Clinic College of Medicine, Rochester, Minnesota 55905, USA
Heart Rhythm 4:161-6. 2007..We recently established CAV3-encoded caveolin-3 as a novel LQTS-associated gene with mutations producing a gain-of-function, LQT3-like molecular/cellular phenotype...
- Echocardiographic-determined septal morphology in Z-disc hypertrophic cardiomyopathyJeanne L Theis
Department of Molecular Pharmacology and Experimental Therapeutics, Mayo Clinic College of Medicine, 200 First Street SW, Rochester, MN 55905, USA
Biochem Biophys Res Commun 351:896-902. 2006..While Z-disc-HCM is uncommon, it is equal in prevalence to thin filament-HCM. In contrast to myofilament-HCM, Z-disc-HCM is associated preferentially with sigmoidal morphology...
- Genotype-phenotype relationships involving hypertrophic cardiomyopathy-associated mutations in titin, muscle LIM protein, and telethoninJ Martijn Bos
Department of Internal Medicine, Division of Cardiovascular Diseases, Mayo Clinic College of Medicine, 200 First Street SW, Rochester, MN 55905, USA
Mol Genet Metab 88:78-85. 2006..Here, we sought to characterize the frequency, spectrum, and phenotype associated with HCM-associated mutations in these three genes in a large cohort of unrelated patients evaluated at a single tertiary outpatient center...
- Phenotypic characterization of a large European family with Brugada syndrome displaying a sudden unexpected death syndrome mutation in SCN5A:Kui Hong
Molecular Genetics Program, Masonic Medical Research Laboratory, Utica, New York 13501, USA
J Cardiovasc Electrophysiol 15:64-9. 2004..This ECG pattern often is concealed but can be unmasked using potent sodium channel blockers. Like congenital long QT syndrome type 3 (LQT3) and sudden unexpected death syndrome, Brugada syndrome has been linked to mutations in SCN5A...
- Myocardial infarction, viral infection, and the cytoskeleton final common pathways of a common disease?Jeffrey A Towbin
J Am Coll Cardiol 50:2215-7. 2007
- Mutations in KCNE1 in long QT syndrome (LQTS): insights into mechanism of LQTS and drug sensitivity?Matteo Vatta
Heart Rhythm 3:1041-2. 2006
- Cytoskeletal Basis of Ventricular ArrhythmiasMatteo Vatta; Fiscal Year: 2005..Identifying cytoskeletal mecahnisms involved in malignant arrhythmias, could lead to the design of novel drugs and the employment of therapeutic means, resulting in a better patients management. ..
- Mutant ZASP in Cytoskeletal Remodeling and ArrhythmiaMatteo Vatta; Fiscal Year: 2006..In addition, little is known about the role of Cypher/ZASP mutations in skeletal muscle, and we have suggested that Cypher/ZASP could be a candidate for orphan forms of muscular dystrophies. ..