Christine E Seidman

Summary

Affiliation: Harvard University
Country: USA

Publications

  1. pmc Identifying sarcomere gene mutations in hypertrophic cardiomyopathy: a personal history
    Christine E Seidman
    Cardiovascular Division, Department of Genetics, Brigham and Women s Hospital, Boston, MA 02115, USA
    Circ Res 108:743-50. 2011
  2. pmc Functional effects of the TMEM43 Ser358Leu mutation in the pathogenesis of arrhythmogenic right ventricular cardiomyopathy
    Revathi Rajkumar
    UPMC Heart and Vascular Institute, Department of Medicine, University of Pittsburgh, Pittsburgh, PA 15213, USA
    BMC Med Genet 13:21. 2012
  3. pmc Shared genetic causes of cardiac hypertrophy in children and adults
    Hiroyuki Morita
    Department of Genetics, Harvard Medical School, Boston, MA 02115, USA
    N Engl J Med 358:1899-908. 2008
  4. pmc Cardiac fibrosis in mice with hypertrophic cardiomyopathy is mediated by non-myocyte proliferation and requires Tgf-β
    Polakit Teekakirikul
    Department of Genetics, Harvard Medical School, Boston, Massachusetts 02115, USA
    J Clin Invest 120:3520-9. 2010
  5. pmc Prevention of ventricular arrhythmia and calcium dysregulation in a catecholaminergic polymorphic ventricular tachycardia mouse model carrying calsequestrin-2 mutation
    Ronny Alcalai
    Department of Genetics, Harvard Medical School, Boston, Massachusetts, USA
    J Cardiovasc Electrophysiol 22:316-24. 2011
  6. ncbi request reprint A contemporary approach to hypertrophic cardiomyopathy
    Carolyn Y Ho
    Cardiovascular Division, Brigham and Women s Hospital, Boston, MA 02115, USA
    Circulation 113:e858-62. 2006
  7. ncbi request reprint Increased alpha2 subunit-associated AMPK activity and PRKAG2 cardiomyopathy
    Ferhaan Ahmad
    Department of Genetics, Harvard Medical School, Howard Hughes Medical Institute, Boston, MA, USA
    Circulation 112:3140-8. 2005
  8. pmc Aberrant activation of AMP-activated protein kinase remodels metabolic network in favor of cardiac glycogen storage
    Ivan Luptak
    NMR Laboratory for Physiological Chemistry, Division of Cardiovascular Medicine, Brigham and Women s Hospital and Harvard Medical School, 221 Longwood Avenue, Boston, MA 02115, USA
    J Clin Invest 117:1432-9. 2007
  9. pmc Calsequestrin 2 (CASQ2) mutations increase expression of calreticulin and ryanodine receptors, causing catecholaminergic polymorphic ventricular tachycardia
    Lei Song
    Department of Genetics, Harvard Medical School, Boston, MA 02115, USA
    J Clin Invest 117:1814-23. 2007
  10. ncbi request reprint A molecular pathway including Id2, Tbx5, and Nkx2-5 required for cardiac conduction system development
    Ivan P G Moskowitz
    Department of Genetics, Harvard Medical School, Boston, MA 02115, USA
    Cell 129:1365-76. 2007

Detail Information

Publications67

  1. pmc Identifying sarcomere gene mutations in hypertrophic cardiomyopathy: a personal history
    Christine E Seidman
    Cardiovascular Division, Department of Genetics, Brigham and Women s Hospital, Boston, MA 02115, USA
    Circ Res 108:743-50. 2011
    ....
  2. pmc Functional effects of the TMEM43 Ser358Leu mutation in the pathogenesis of arrhythmogenic right ventricular cardiomyopathy
    Revathi Rajkumar
    UPMC Heart and Vascular Institute, Department of Medicine, University of Pittsburgh, Pittsburgh, PA 15213, USA
    BMC Med Genet 13:21. 2012
    ..The Ser358Leu mutation in TMEM43, encoding an inner nuclear membrane protein, has been implicated in arrhythmogenic right ventricular cardiomyopathy (ARVC). The pathogenetic mechanisms of this mutation are poorly understood...
  3. pmc Shared genetic causes of cardiac hypertrophy in children and adults
    Hiroyuki Morita
    Department of Genetics, Harvard Medical School, Boston, MA 02115, USA
    N Engl J Med 358:1899-908. 2008
    ..Despite morphologic similarities to genetic cardiomyopathies of adulthood, the contribution of genetics to childhood-onset hypertrophy is unknown...
  4. pmc Cardiac fibrosis in mice with hypertrophic cardiomyopathy is mediated by non-myocyte proliferation and requires Tgf-β
    Polakit Teekakirikul
    Department of Genetics, Harvard Medical School, Boston, Massachusetts 02115, USA
    J Clin Invest 120:3520-9. 2010
    ..Preemptive pharmacologic inhibition of Tgf-β signals warrants study in human patients with sarcomere gene mutations...
  5. pmc Prevention of ventricular arrhythmia and calcium dysregulation in a catecholaminergic polymorphic ventricular tachycardia mouse model carrying calsequestrin-2 mutation
    Ronny Alcalai
    Department of Genetics, Harvard Medical School, Boston, Massachusetts, USA
    J Cardiovasc Electrophysiol 22:316-24. 2011
    ..Mechanistic studies indicate that CPVT is mediated by diastolic Ca(2+) overload and increased Ca(2+) leak through the RyR2 channel, implying that treatment targeting these defects might be efficacious in CPVT...
  6. ncbi request reprint A contemporary approach to hypertrophic cardiomyopathy
    Carolyn Y Ho
    Cardiovascular Division, Brigham and Women s Hospital, Boston, MA 02115, USA
    Circulation 113:e858-62. 2006
  7. ncbi request reprint Increased alpha2 subunit-associated AMPK activity and PRKAG2 cardiomyopathy
    Ferhaan Ahmad
    Department of Genetics, Harvard Medical School, Howard Hughes Medical Institute, Boston, MA, USA
    Circulation 112:3140-8. 2005
    ..Mice overexpressing a dominant-negative alpha2 subunit of AMPK (TGalpha2DN) provide a tool for selectively inhibiting alpha2, but not alpha1, subunit-associated AMPK activity...
  8. pmc Aberrant activation of AMP-activated protein kinase remodels metabolic network in favor of cardiac glycogen storage
    Ivan Luptak
    NMR Laboratory for Physiological Chemistry, Division of Cardiovascular Medicine, Brigham and Women s Hospital and Harvard Medical School, 221 Longwood Avenue, Boston, MA 02115, USA
    J Clin Invest 117:1432-9. 2007
    ..These findings are of particular importance in considering AMPK as a target for the treatment of metabolic diseases...
  9. pmc Calsequestrin 2 (CASQ2) mutations increase expression of calreticulin and ryanodine receptors, causing catecholaminergic polymorphic ventricular tachycardia
    Lei Song
    Department of Genetics, Harvard Medical School, Boston, MA 02115, USA
    J Clin Invest 117:1814-23. 2007
    ..The central role of RyR2 dysfunction in CASQ2 deficiency unifies the pathophysiologic mechanism underlying CPVT due to RyR2 or CASQ2 mutations and suggests a therapeutic approach for these inherited cardiac arrhythmias...
  10. ncbi request reprint A molecular pathway including Id2, Tbx5, and Nkx2-5 required for cardiac conduction system development
    Ivan P G Moskowitz
    Department of Genetics, Harvard Medical School, Boston, MA 02115, USA
    Cell 129:1365-76. 2007
    ..We conclude that a molecular pathway including Tbx5, Nkx2-5, and Id2 coordinates specification of ventricular myocytes into the ventricular conduction system lineage...
  11. ncbi request reprint Polony multiplex analysis of gene expression (PMAGE) in mouse hypertrophic cardiomyopathy
    Jae Bum Kim
    Cardiovascular Division, Brigham and Women s Hospital, Boston, MA 02115, USA
    Science 316:1481-4. 2007
    ..PMAGE provided a comprehensive profile of cardiac mRNAs, including low-abundance mRNAs encoding signaling molecules and transcription factors that are likely to participate in disease pathogenesis...
  12. pmc Genome-wide assessment for genetic variants associated with ventricular dysfunction after primary coronary artery bypass graft surgery
    Amanda A Fox
    Department of Anesthesiology, Perioperative and Pain Medicine, Brigham and Women s Hospital, Harvard Medical School, Boston, Massachusetts, United States of America
    PLoS ONE 6:e24593. 2011
    ..We aimed to determine if genetic variants associate with occurrence of in-hospital VnD after CABG surgery...
  13. pmc Lamin A/C haploinsufficiency causes dilated cardiomyopathy and apoptosis-triggered cardiac conduction system disease
    Cordula M Wolf
    Department of Cardiology, Children s Hospital Boston, Harvard Medical School, Boston, MA 02115, USA
    J Mol Cell Cardiol 44:293-303. 2008
    ....
  14. ncbi request reprint Glycogen storage diseases presenting as hypertrophic cardiomyopathy
    Michael Arad
    Division of Cardiology, Brigham and Women s Hospital, Boston, USA
    N Engl J Med 352:362-72. 2005
    ....
  15. ncbi request reprint Novel locus for an inherited cardiomyopathy maps to chromosome 7
    Lei Song
    Howard Hughes Medical Institute, Department of Genetics, Harvard Medical School, Boston, MA, USA
    Circulation 113:2186-92. 2006
    ..To add further complexity, other genetic origins can mimic the gross clinical phenotype of HCM, and mutations in sarcomere genes have been demonstrated to cause dilated cardiomyopathy...
  16. ncbi request reprint Single-gene mutations and increased left ventricular wall thickness in the community: the Framingham Heart Study
    Hiroyuki Morita
    The Program in Genomics Applications CardioGenomics Group Department of Genetics, NRB Room 256, Harvard Medical School, 77 Avenue Louis Pasteur, Boston, Massachusetts 02115, USA
    Circulation 113:2697-705. 2006
    ....
  17. pmc Myocardial fibrosis as an early manifestation of hypertrophic cardiomyopathy
    Carolyn Y Ho
    Cardiovascular Division, Brigham and Women s Hospital, Boston, MA 02115, USA
    N Engl J Med 363:552-63. 2010
    ..In animal models, profibrotic genetic pathways are activated early, before hypertrophic remodeling. Data showing early profibrotic responses to sarcomere-gene mutations in patients with hypertrophic cardiomyopathy are lacking...
  18. pmc Reversibility of PRKAG2 glycogen-storage cardiomyopathy and electrophysiological manifestations
    Cordula M Wolf
    Department of Cardiology, Children s Hospital Boston, Boston, MA 02115, USA
    Circulation 117:144-54. 2008
    ..A genetic approach that utilizes a binary inducible transgenic system was used to investigate the disease mechanism and to assess preventability and reversibility of disease features in a mouse model of glycogen-storage cardiomyopathy...
  19. pmc Subtle abnormalities in contractile function are an early manifestation of sarcomere mutations in dilated cardiomyopathy
    Neal K Lakdawala
    Brigham and Women s Hospital, 75 Francis Street, Boston, MA 02115, USA
    Circ Cardiovasc Genet 5:503-10. 2012
    ..By studying mutation carriers before a clinical diagnosis develops, we characterize the early manifestations of sarcomere mutations in DCM and investigate how these manifestations differ from sarcomere mutations associated with HCM...
  20. pmc Cardiac myosin missense mutations cause dilated cardiomyopathy in mouse models and depress molecular motor function
    Joachim P Schmitt
    Department of Genetics and Howard Hughes Medical Institute, Harvard Medical School, Boston, MA 02115, USA
    Proc Natl Acad Sci U S A 103:14525-30. 2006
    ..These results suggest that the depressed molecular function in cardiac myosin may initiate the events that cause the heart to remodel and become pathologically dilated...
  21. pmc Eya4-deficient mice are a model for heritable otitis media
    Frederic F S Depreux
    Department of Genetics, Harvard Medical School, Boston, Massachusetts 02115, USA
    J Clin Invest 118:651-8. 2008
    ..We suggest that some human otitis media susceptibility reflects underlying genetic predisposition in genes like EYA4 that regulate middle ear and eustachian tube anatomy...
  22. ncbi request reprint Gene mutations in apical hypertrophic cardiomyopathy
    Michael Arad
    Department of Genetics, Harvard Medical School, Boston, MA 02115, USA
    Circulation 112:2805-11. 2005
    ..The genetic relationship between HCM with typical hypertrophic morphology versus isolated apical hypertrophy is incompletely understood...
  23. ncbi request reprint Transgenic mice overexpressing mutant PRKAG2 define the cause of Wolff-Parkinson-White syndrome in glycogen storage cardiomyopathy
    Michael Arad
    Department of Genetics, Harvard Medical School and Howard Hughes Medical Institute, 200 Longwood Ave, Boston, Mass 02115, USA
    Circulation 107:2850-6. 2003
    ..Pathological examinations of affected human hearts reveal vacuoles containing amylopectin, a glycogen-related substance...
  24. doi request reprint Eya4 regulation of Na+/K+-ATPase is required for sensory system development in zebrafish
    Libin Wang
    Harvard Medical School, Department of Genetics, and Howard Hughes Medical Institute, Division of Hematology Oncology, Children s Hospital Boston, 77 Avenue Louis Pasteur, Boston, MA 02115, USA
    Development 135:3425-34. 2008
    ..We conclude that eya4 regulation of Na+/K+-ATPase is crucial for the development of mechanosensory cells and the maintenance of cardiac function in zebrafish...
  25. pmc Truncations of titin causing dilated cardiomyopathy
    Daniel S Herman
    Department of Genetics, Harvard Medical School, Boston, MA 02115, USA
    N Engl J Med 366:619-28. 2012
    ..Dilated cardiomyopathy and hypertrophic cardiomyopathy arise from mutations in many genes. TTN, the gene encoding the sarcomere protein titin, has been insufficiently analyzed for cardiomyopathy mutations because of its enormous size...
  26. pmc Connexin 40, a target of transcription factor Tbx5, patterns wrist, digits, and sternum
    Anne Pizard
    Department of Genetics, Harvard Medical School and Howard Hughes Medical Institute, Boston, MA 02115, USA
    Mol Cell Biol 25:5073-83. 2005
    ..Our study strongly suggests that Cx40 deficiency accounts for many skeletal malformations in HOS and that Tbx5 regulation of Cx40 plays a critical role in the exquisite developmental patterning of the forelimbs and sternum...
  27. ncbi request reprint Consequences of pressure overload on sarcomere protein mutation-induced hypertrophic cardiomyopathy
    Joachim P Schmitt
    Department of Genetics, Harvard Medical School and Howard Hughes Medical Institute, Boston, Mass 02115, USA
    Circulation 108:1133-8. 2003
    ..To study this, we assessed cardiac hypertrophy in a mouse model of HCM subjected to increased left ventricular (LV) load...
  28. ncbi request reprint Missense mutations in the BCS1L gene as a cause of the Björnstad syndrome
    J Travis Hinson
    Harvard Medical School, Boston, MA 02115, USA
    N Engl J Med 356:809-19. 2007
    ..The Björnstad syndrome, an autosomal recessive disorder associated with sensorineural hearing loss and pili torti, is caused by mutation of a previously unidentified gene on chromosome 2q34-36...
  29. pmc Filter-based hybridization capture of subgenomes enables resequencing and copy-number detection
    Daniel S Herman
    Department of Genetics, Harvard Medical School, Boston, Massachusetts, USA
    Nat Methods 6:507-10. 2009
    ..8% of targeted nucleotides >or=20 times ( approximately 40,000-fold enrichment), enabling sensitive and specific detection of sequence variation and copy-number variation...
  30. pmc Activation of multiple signaling pathways causes developmental defects in mice with a Noonan syndrome–associated Sos1 mutation
    Peng Chieh Chen
    Department of Genetics, Harvard Medical School, Boston, Massachusetts, USA
    J Clin Invest 120:4353-65. 2010
    ....
  31. pmc Genetic and environmental risk factors in congenital heart disease functionally converge in protein networks driving heart development
    Kasper Lage
    Pediatric Surgical Research Laboratories, Department of Molecular Biology, and Analytical and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, USA
    Proc Natl Acad Sci U S A 109:14035-40. 2012
    ..This integrative analysis of CHD risk factors and responses suggests a complex pattern of functional interactions between genomic variation and environmental exposures that modulate critical biological systems during heart development...
  32. ncbi request reprint Dilated cardiomyopathy and heart failure caused by a mutation in phospholamban
    Joachim P Schmitt
    Department of Genetics, Harvard Medical School and Howard Hughes Medical Institute, 200 Longwood Avenue, Boston, MA 02115, USA
    Science 299:1410-3. 2003
    ..These results indicate that myocellular calcium dysregulation can initiate human heart failure-a finding that may lead to therapeutic opportunities...
  33. pmc Heterogeneous myocyte enhancer factor-2 (Mef2) activation in myocytes predicts focal scarring in hypertrophic cardiomyopathy
    Tetsuo Konno
    Department of Genetics, Harvard Medical School, Boston, MA 02115, USA
    Proc Natl Acad Sci U S A 107:18097-102. 2010
    ....
  34. pmc Variation in the 4q25 chromosomal locus predicts atrial fibrillation after coronary artery bypass graft surgery
    Simon C Body
    Department of Anesthesiology, Perioperative and Pain Medicine, Brigham and Women s Hospital, Harvard Medical School, Boston, Mass 02115, USA
    Circ Cardiovasc Genet 2:499-506. 2009
    ..However, their role in postoperative AF is unknown. We hypothesized that genetic variants in the 4q25 chromosomal region are independently associated with postoperative AF after coronary artery bypass graft surgery...
  35. pmc Deletion of thioredoxin-interacting protein in mice impairs mitochondrial function but protects the myocardium from ischemia-reperfusion injury
    Jun Yoshioka
    Cardiovascular Division, Brigham and Women s Hospital and Harvard Medical School, Boston, Massachusetts, USA
    J Clin Invest 122:267-79. 2012
    ....
  36. ncbi request reprint N488I mutation of the gamma2-subunit results in bidirectional changes in AMP-activated protein kinase activity
    Liqun Zou
    NMR Laboratory for Physiological Chemistry, Brigham and Women s Hospital, Boston, MA, USA
    Circ Res 97:323-8. 2005
    ....
  37. pmc Sequencing of TGF-beta pathway genes in familial cases of intracranial aneurysm
    Teresa Santiago-Sim
    Department of Genetics, Harvard Medical School, Boston, Massachusetts, USA
    Stroke 40:1604-11. 2009
    ..In recent work, we found that aortic and intracranial aneurysms may share a common genetic basis in some families. We hypothesized, therefore, that mutations in TGF-beta receptors might also play a role in IA pathogenesis...
  38. pmc Somatic events modify hypertrophic cardiomyopathy pathology and link hypertrophy to arrhythmia
    Cordula M Wolf
    Department of Cardiology, Children s Hospital, Boston, MA 02115, USA
    Proc Natl Acad Sci U S A 102:18123-8. 2005
    ..We suggest that a shared pathway triggered by sarcomere gene mutations links cardiac hypertrophy and arrhythmias in HCM...
  39. pmc Genetic testing for dilated cardiomyopathy in clinical practice
    Neal K Lakdawala
    Cardiovascular Division, Brigham and Women s Hospital, Boston, Massachusetts, USA
    J Card Fail 18:296-303. 2012
    ..However, the role of genetic testing in clinical practice is not well defined. We examined the experience of clinical genetic testing in a diverse DCM population to characterize the prevalence and predictors of gene mutations...
  40. ncbi request reprint A novel missense mutation in the paired domain of PAX9 causes non-syndromic oligodontia
    Dolrudee Jumlongras
    Department of Cell Biology, Harvard Medical School, 240 Longwood Avenue, Boston, MA 02115, USA
    Hum Genet 114:242-9. 2004
    ..The R28P mutation dramatically reduces DNA binding of the PAX9 paired domain and supports the hypothesis that loss of DNA binding is the pathogenic mechanism by which the mutation causes oligodontia...
  41. ncbi request reprint Cardiovascular genomics
    Marc S Sabatine
    Cardiovascular Division, Brigham and Women s Hospital, Boston, MA 02115, USA
    Circulation 113:e450-5. 2006
  42. pmc Spectrum of somatic mitochondrial mutations in five cancers
    Tatianna C Larman
    Department of Genetics, Harvard Medical School, Boston, MA 02115, USA
    Proc Natl Acad Sci U S A 109:14087-91. 2012
    ..In summary, these data suggest that damaging somatic mtDNA mutations occur frequently (13-63%) in these five tumor types and likely confer a selective advantage in oncogenesis...
  43. pmc Narrative review: harnessing molecular genetics for the diagnosis and management of hypertrophic cardiomyopathy
    Libin Wang
    Harvard Medical School and Howard Hughes Medical Institute, Boston, Massachusetts, USA
    Ann Intern Med 152:513-20, W181. 2010
    ..The combination of contemporary gene-based diagnosis with new strategies to attenuate disease development and progression is changing the natural history of lifelong cardiac symptoms, arrhythmias, and heart failure from HCM...
  44. ncbi request reprint The T-Box transcription factor Tbx5 is required for the patterning and maturation of the murine cardiac conduction system
    Ivan P G Moskowitz
    Department of Genetics, Harvard Medical School and Howard Hughes Medical Institute, Boston, MA 02115, USA
    Development 131:4107-16. 2004
    ..We conclude that Tbx5 is required for Cx40-independent patterning of the cardiac conduction system, and suggest that the electrophysiologic defects in Holt-Oram syndrome reflect a developmental abnormality of the conduction system...
  45. doi request reprint Genetics of congenital heart disease: the glass half empty
    Akl C Fahed
    Department of Genetics, Harvard Medical School, Boston, MA 02115, USA
    Circ Res 112:707-20. 2013
    ..In this review, we explore how continued use of these technologies and integration of systems biology is expected to expand our understanding of the genetic architecture of CHD...
  46. pmc Hypertrophic cardiomyopathy: translating cellular cross talk into therapeutics
    Polakit Teekakirikul
    Department of Genetics, Harvard Medical School, Boston, MA 02115, USA
    J Cell Biol 199:417-21. 2012
    ..Studies in these models have provided unexpected insights into the biophysical and biochemical properties of mutated contractile proteins and may help to improve clinical diagnosis and management of patients with HCM...
  47. pmc Genetics of hypertrophic cardiomyopathy
    Tetsuo Konno
    Department of Genetics, Harvard Medical School, Boston, Massachusetts 02115, USA
    Curr Opin Cardiol 25:205-9. 2010
    ..This manuscript reviews recent discoveries of disease-causing genes and their clinical consequences, and provides an overview of research that aims to elucidate how HCM ensues from a single-nucleotide mutation...
  48. ncbi request reprint Assessment of diastolic function with Doppler tissue imaging to predict genotype in preclinical hypertrophic cardiomyopathy
    Carolyn Y Ho
    Cardiovascular Division, Brigham and Women s Hospital, Harvard Medical School, Boston, Mass 02115, USA
    Circulation 105:2992-7. 2002
    ..Altered diastolic function has been hypothesized to represent an earlier manifestation of HCM before the development of LVH; however, data regarding the clinical utility of imaging techniques that assess this parameter are limited...
  49. ncbi request reprint Phenotypic diversity in hypertrophic cardiomyopathy
    Michael Arad
    Department of Genetics, Harvard Medical School, Boston, MA, USA
    Hum Mol Genet 11:2499-506. 2002
    ..Recent progress made in understanding molecular pathways that result in cardiac hypertrophy and the factors that modify these processes are discussed...
  50. pmc Polycomb repressive complex 2 regulates normal development of the mouse heart
    Aibin He
    Department of Cardiology, Children s Hospital Boston, MA, USA
    Circ Res 110:406-15. 2012
    ..Polycomb repressive complex 2 (PRC2) trimethylates histone H3 at lysine 27, which establishes H3K27me3 repressive epigenetic marks that promote tissue-specific differentiation by silencing ectopic gene programs...
  51. pmc De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot
    Steven C Greenway
    Department of Genetics, Harvard Medical School, Boston, Massachusetts, USA
    Nat Genet 41:931-5. 2009
    ..Our findings predict that at least 10% (4.5-15.5%, 95% confidence interval) of sporadic nonsyndromic TOF cases result from de novo CNVs and suggest that mutations within these loci might be etiologic in other cases of TOF...
  52. ncbi request reprint Mutation in the transcriptional coactivator EYA4 causes dilated cardiomyopathy and sensorineural hearing loss
    Jost Schönberger
    Harvard Medical School, Department of Genetics, 77 Avenue Louis Pasteur, Boston, Massachusetts 02115, USA
    Nat Genet 37:418-22. 2005
    ..These data define unrecognized and crucial roles for Eya4-Six-mediated transcriptional regulation in normal heart function...
  53. doi request reprint Genetic evaluation of cardiomyopathy--a Heart Failure Society of America practice guideline
    Ray E Hershberger
    Cardiovascular Division, University of Miami Miller School of Medicine, Miami, Florida 33101 5138, USA
    J Card Fail 15:83-97. 2009
    ..Hence the clinical and genetic knowledge for each cardiomyopathy varies, as do the recommendations and strength of evidence...
  54. pmc Familial dilated cardiomyopathy caused by an alpha-tropomyosin mutation: the distinctive natural history of sarcomeric dilated cardiomyopathy
    Neal K Lakdawala
    Cardiovascular Division, Brigham and Women s Hospital, Boston, Massachusetts 02115, USA
    J Am Coll Cardiol 55:320-9. 2010
    ..We sought to further define the role of sarcomere mutations in dilated cardiomyopathy (DCM) and associated clinical phenotypes...
  55. ncbi request reprint Genetic basis of hypertrophic cardiomyopathy: from bench to the clinics
    Ronny Alcalai
    Department of Genetics, Harvard Medical School, Boston, Massachusetts 02115, USA
    J Cardiovasc Electrophysiol 19:104-10. 2008
    ..The clinical implications of molecular advances in HCM are discussed...
  56. pmc Genetic causes of human heart failure
    Hiroyuki Morita
    Department of Genetics, Harvard Medical School, Division of Cardiology, Brigham and Women s Hospital, and Howard Hughes Medical Institute, Boston, Massachusetts 02115, USA
    J Clin Invest 115:518-26. 2005
    ..Knowledge gleaned from these studies shows promise for defining novel therapeutic targets for genetic and acquired causes of heart failure...
  57. doi request reprint Dissecting spatio-temporal protein networks driving human heart development and related disorders
    Kasper Lage
    Pediatric Surgical Research Laboratories, MassGeneral Hospital for Children, Massachusetts General Hospital, Boston, MA 02114, USA
    Mol Syst Biol 6:381. 2010
    ....
  58. pmc Constitutively active AMP kinase mutations cause glycogen storage disease mimicking hypertrophic cardiomyopathy
    Michael Arad
    Department of Genetics, Harvard Medical School and Howard Hughes Medical Institute, Boston, Massachusetts 02115, USA
    J Clin Invest 109:357-62. 2002
    ....
  59. pmc Natriuretic peptide system gene variants are associated with ventricular dysfunction after coronary artery bypass grafting
    Amanda A Fox
    Department of Anesthesiology, Perioperative and Pain Medicine, Brigham and Women s Hospital, Harvard Medical School, Boston, Massachusetts 02115, USA
    Anesthesiology 110:738-47. 2009
    ..The authors hypothesized that natriuretic peptide system gene variants independently predict risk of VnD after primary coronary artery bypass grafting...
  60. pmc Locus for familial migrainous vertigo disease maps to chromosome 5q35
    Fayez Bahmad
    Department of Genetics, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, MA 02114, USA
    Ann Otol Rhinol Laryngol 118:670-6. 2009
    ..However, neither disease genes nor loci that might be responsible have been reported. We sought to map the genetic locus for familial migrainous vertigo in a 4-generation family and to define the progression of disease in this family...
  61. ncbi request reprint [Using molecular genetics to guide the diagnosis and treatment of hypertrophic cardiomyopathy]
    Li bin Wang
    Department of Genetics, Harvard Medical School, Massachusetts 02115, USA
    Zhonghua Xin Xue Guan Bing Za Zhi 37:1063-8. 2009
    ....
  62. pmc The L-type calcium channel inhibitor diltiazem prevents cardiomyopathy in a mouse model
    Christopher Semsarian
    Department of Genetics, Howard Hughes Medical Institute and Harvard Medical School, 200 Longwood Avenue, Boston, MA 02115, USA
    J Clin Invest 109:1013-20. 2002
    ....
  63. pmc De novo mutations in histone-modifying genes in congenital heart disease
    Samir Zaidi
    Department of Genetics, Yale University School of Medicine, New Haven, Connecticut 06510, USA
    Nature 498:220-3. 2013
    ..These findings implicate de novo point mutations in several hundreds of genes that collectively contribute to approximately 10% of severe CHD...
  64. pmc A public resource facilitating clinical use of genomes
    Madeleine P Ball
    Department of Genetics, Harvard Medical School, Boston, MA 02115, USA
    Proc Natl Acad Sci U S A 109:11920-7. 2012
    ..We offer our public resource and methods to further personalized medical research...
  65. ncbi request reprint Contemporary evaluation and management of hypertrophic cardiomyopathy
    Eugene Braunwald
    Cardiovascular Division, Department of Medicine, Brigham and Women s Hospital, Harvard Medical School, Boston, Mass 02115, USA
    Circulation 106:1312-6. 2002
  66. ncbi request reprint Sarcomere protein gene mutations in hypertrophic cardiomyopathy of the elderly
    Hideshi Niimura
    Howard Hughes Medical Institute and Department of Genetics, Harvard Medical School, Boston, MA 02115, USA
    Circulation 105:446-51. 2002
    ..Hypertrophic cardiomyopathy of the elderly has similar clinical features but, notably, a later age of onset and noncontributory family history. Causes of elderly-onset hypertrophic cardiomyopathy are unknown...
  67. pmc IL-12 is required for differentiation of pathogenic CD8+ T cell effectors that cause myocarditis
    Nir Grabie
    Immunology Research Division, Department of Pathology, Brigham and Women s Hospital and Harvard Medical School, Boston, Massachusetts 02115, USA
    J Clin Invest 111:671-80. 2003
    ..These data demonstrate the importance of IL-12 in the differentiation of pathogenic CD8(+) T cells that can cause myocarditis...