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PMID: 12531871 Published · ppublish English Journal Article

Genotype, phenotype: upstairs, downstairs in the family of cardiomyopathies.

The Journal of clinical investigation ·Vol. 111 ·No. 2 ·2003-01-00 ·Pages 175-8

Chien KR

Abstract

暂无摘要

MeSH Terms
Cardiomyopathies/genetics Cardiomyopathy, Dilated/genetics Cardiomyopathy, Hypertrophic/genetics Cardiomyopathy, Restrictive/genetics Genotype Humans Mutation Phenotype Troponin I/genetics
Chemicals
Troponin I
Authors & Affiliations
1 authors, click to expand affiliations / ORCID
Chien Kenneth R
University of California, San Diego Institute of Molecular Medicine, University of California, San Diego School of Medicine, La Jolla, California 92093, USA. kchien@ucsd.edu
References (69)
69 references, click to expand
  1. Desmin mutation responsible for idiopathic dilated cardiomyopathy.
    Circulation. 1999 Aug 3;100(5):461-4 PMID: 10430757
  2. Structural analysis of the titin gene in hypertrophic cardiomyopathy: identification of a novel disease gene.
    Biochem Biophys Res Commun. 1999 Aug 27;262(2):411-7 PMID: 10462489
  3. Stress pathways and heart failure.
    Cell. 1999 Sep 3;98(5):555-8 PMID: 10490095
  4. Cre-constructing the heart.
    Nat Genet. 2003 Jan;33(1):8-9 PMID: 12509773
  5. Mutations in either the essential or regulatory light chains of myosin are associated with a rare myopathy in human heart and skeletal muscle.
    Nat Genet. 1996 May;13(1):63-9 PMID: 8673105
  6. Transthoracic echocardiography in models of cardiac disease in the mouse.
    Circulation. 1996 Sep 1;94(5):1109-17 PMID: 8790053
  7. In vivo cardiac electrophysiology studies in the mouse.
    Circulation. 1996 Nov 15;94(10):2641-8 PMID: 8921812
  8. Genomic circuits and the integrative biology of cardiac diseases.
    Nature. 2000 Sep 14;407(6801):227-32 PMID: 11001065
  9. A novel genetic pathway for sudden cardiac death via defects in the transition between ventricular and conduction system cell lineages.
    Cell. 2000 Sep 1;102(5):671-82 PMID: 11007485
  10. Mutations in sarcomere protein genes as a cause of dilated cardiomyopathy.
    N Engl J Med. 2000 Dec 7;343(23):1688-96 PMID: 11106718
  11. Cellular and functional defects in a mouse model of heart failure.
    Am J Physiol Heart Circ Physiol. 2000 Dec;279(6):H3101-12 PMID: 11087268
  12. The genetic basis for cardiomyopathy: from mutation identification to mechanistic paradigms.
    Cell. 2001 Feb 23;104(4):557-67 PMID: 11239412
  13. Novel gene mutations in patients with left ventricular noncompaction or Barth syndrome.
    Circulation. 2001 Mar 6;103(9):1256-63 PMID: 11238270
  14. Mutations that alter the surface charge of alpha-tropomyosin are associated with dilated cardiomyopathy.
    J Mol Cell Cardiol. 2001 Apr;33(4):723-32 PMID: 11273725
  15. Adult mice deficient in actinin-associated LIM-domain protein reveal a developmental pathway for right ventricular cardiomyopathy.
    Nat Med. 2001 May;7(5):591-7 PMID: 11329061
  16. Dobutamine stress cine-MRI of cardiac function in the hearts of adult cardiomyocyte-specific VEGF knockout mice.
    J Magn Reson Imaging. 2001 Oct;14(4):374-82 PMID: 11599061
  17. A defect in the Kv channel-interacting protein 2 (KChIP2) gene leads to a complete loss of I(to) and confers susceptibility to ventricular tachycardia.
    Cell. 2001 Dec 14;107(6):801-13 PMID: 11747815
  18. Fibulin-5/DANCE is essential for elastogenesis in vivo.
    Nature. 2002 Jan 10;415(6868):171-5 PMID: 11805835
  19. Metavinculin mutations alter actin interaction in dilated cardiomyopathy.
    Circulation. 2002 Jan 29;105(4):431-7 PMID: 11815424
  20. Mutations of TTN, encoding the giant muscle filament titin, cause familial dilated cardiomyopathy.
    Nat Genet. 2002 Feb;30(2):201-4 PMID: 11788824
  21. Myocardial involvement is very frequent among patients affected with subclinical Becker's muscular dystrophy.
    Circulation. 1996 Dec 15;94(12):3168-75 PMID: 8989125
  22. Dilated cardiomyopathy associated with deficiency of the cytoskeletal protein metavinculin.
    Circulation. 1997 Jan 7;95(1):17-20 PMID: 8994410
  23. MLP-deficient mice exhibit a disruption of cardiac cytoarchitectural organization, dilated cardiomyopathy, and heart failure.
    Cell. 1997 Feb 7;88(3):393-403 PMID: 9039266
  24. Electrophysiological abnormalities and arrhythmias in alpha MHC mutant familial hypertrophic cardiomyopathy mice.
    J Clin Invest. 1997 Feb 15;99(4):570-6 PMID: 9045856
  25. Mutations in the cardiac troponin I gene associated with hypertrophic cardiomyopathy.
    Nat Genet. 1997 Aug;16(4):379-82 PMID: 9241277
  26. Dilated cardiomyopathy in transgenic mice with cardiac-specific overexpression of tumor necrosis factor-alpha.
    Circ Res. 1997 Oct;81(4):627-35 PMID: 9314845
  27. Actin mutations in dilated cardiomyopathy, a heritable form of heart failure.
    Science. 1998 May 1;280(5364):750-2 PMID: 9563954
  28. Dilated cardiomyopathy in homozygous myosin-binding protein-C mutant mice.
    J Clin Invest. 1999 Nov;104(9):1235-44 PMID: 10545522
  29. Chronic phospholamban-sarcoplasmic reticulum calcium ATPase interaction is the critical calcium cycling defect in dilated cardiomyopathy.
    Cell. 1999 Oct 29;99(3):313-22 PMID: 10555147
  30. Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease.
    N Engl J Med. 1999 Dec 2;341(23):1715-24 PMID: 10580070
  31. Calcineurin plays a critical role in pressure overload-induced cardiac hypertrophy.
    Circulation. 1999 Dec 14;100(24):2449-54 PMID: 10595959
  32. Disruption of heart sarcoglycan complex and severe cardiomyopathy caused by beta sarcoglycan mutations.
    J Med Genet. 2000 Feb;37(2):102-7 PMID: 10662809
  33. A custom confocal and two-photon digital laser scanning microscope.
    Am J Physiol Heart Circ Physiol. 2000 Jun;278(6):H2150-6 PMID: 10843915
  34. Culture and adenoviral infection of adult mouse cardiac myocytes: methods for cellular genetic physiology.
    Am J Physiol Heart Circ Physiol. 2000 Jul;279(1):H429-36 PMID: 10899083
  35. Mutations in the human delta-sarcoglycan gene in familial and sporadic dilated cardiomyopathy.
    J Clin Invest. 2000 Sep;106(5):655-62 PMID: 10974018
  36. Titin mutations as the molecular basis for dilated cardiomyopathy.
    Biochem Biophys Res Commun. 2002 Feb 22;291(2):385-93 PMID: 11846417
  37. Mixed signals in heart failure: cancer rules.
    J Clin Invest. 2002 Apr;109(7):849-55 PMID: 11927610
  38. Genetic modifier loci affecting survival and cardiac function in murine dilated cardiomyopathy.
    Circulation. 2002 Apr 16;105(15):1824-9 PMID: 11956126
  39. The L-type calcium channel inhibitor diltiazem prevents cardiomyopathy in a mouse model.
    J Clin Invest. 2002 Apr;109(8):1013-20 PMID: 11956238
  40. Chronic suppression of heart-failure progression by a pseudophosphorylated mutant of phospholamban via in vivo cardiac rAAV gene delivery.
    Nat Med. 2002 Aug;8(8):864-71 PMID: 12134142
  41. Defects in caveolin-1 cause dilated cardiomyopathy and pulmonary hypertension in knockout mice.
    Proc Natl Acad Sci U S A. 2002 Aug 20;99(17):11375-80 PMID: 12177436
  42. Class II histone deacetylases act as signal-responsive repressors of cardiac hypertrophy.
    Cell. 2002 Aug 23;110(4):479-88 PMID: 12202037
  43. Creating new fluorescent probes for cell biology.
    Nat Rev Mol Cell Biol. 2002 Dec;3(12):906-18 PMID: 12461557
  44. The cardiac mechanical stretch sensor machinery involves a Z disc complex that is defective in a subset of human dilated cardiomyopathy.
    Cell. 2002 Dec 27;111(7):943-55 PMID: 12507422
  45. Idiopathic restrictive cardiomyopathy is part of the clinical expression of cardiac troponin I mutations.
    J Clin Invest. 2003 Jan;111(2):209-16 PMID: 12531876
  46. A study of dynamic properties in isolated myocardial cells by the laser diffraction method.
    J Mol Cell Cardiol. 1987 Sep;19(9):897-907 PMID: 3430641
  47. A molecular basis for familial hypertrophic cardiomyopathy: an alpha/beta cardiac myosin heavy chain hybrid gene.
    Cell. 1990 Sep 7;62(5):991-8 PMID: 2144212
  48. A molecular basis for familial hypertrophic cardiomyopathy: a beta cardiac myosin heavy chain gene missense mutation.
    Cell. 1990 Sep 7;62(5):999-1006 PMID: 1975517
  49. Segregation of atrial-specific and inducible expression of an atrial natriuretic factor transgene in an in vivo murine model of cardiac hypertrophy.
    Proc Natl Acad Sci U S A. 1991 Sep 15;88(18):8277-81 PMID: 1832775
  50. X-linked dilated cardiomyopathy. Molecular genetic evidence of linkage to the Duchenne muscular dystrophy (dystrophin) gene at the Xp21 locus.
    Circulation. 1993 Jun;87(6):1854-65 PMID: 8504498
  51. Brief report: deletion of the dystrophin muscle-promoter region associated with X-linked dilated cardiomyopathy.
    N Engl J Med. 1993 Sep 23;329(13):921-5 PMID: 8361506
  52. Comparison of normal, hypodynamic, and hyperdynamic mouse hearts using isolated work-performing heart preparations.
    Am J Physiol. 1993 Oct;265(4 Pt 2):H1401-10 PMID: 7694487
  53. Use of telemetry to record electrocardiogram and heart rate in freely moving mice.
    J Pharmacol Toxicol Methods. 1993 Dec;30(4):209-15 PMID: 8123902
  54. Molecular and physiological alterations in murine ventricular dysfunction.
    Proc Natl Acad Sci U S A. 1994 Mar 29;91(7):2694-8 PMID: 8146176
  55. Enhanced myocardial function in transgenic mice overexpressing the beta 2-adrenergic receptor.
    Science. 1994 Apr 22;264(5158):582-6 PMID: 8160017
  56. Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere.
    Cell. 1994 Jun 3;77(5):701-12 PMID: 8205619
  57. Electrophysiological properties of neonatal mouse cardiac myocytes in primary culture.
    J Physiol. 1994 Sep 1;479 ( Pt 2):265-79 PMID: 7799226
  58. Cardiac myosin binding protein-C gene splice acceptor site mutation is associated with familial hypertrophic cardiomyopathy.
    Nat Genet. 1995 Dec;11(4):438-40 PMID: 7493026
  59. Myocardial ischemia and reperfusion: a murine model.
    Am J Physiol. 1995 Dec;269(6 Pt 2):H2147-54 PMID: 8594926
  60. A mouse model of familial hypertrophic cardiomyopathy.
    Science. 1996 May 3;272(5262):731-4 PMID: 8614836
  61. Missense mutations in desmin associated with familial cardiac and skeletal myopathy.
    Nat Genet. 1998 Aug;19(4):402-3 PMID: 9697706
  62. Mechanical stretch induces hypertrophic responses in cardiac myocytes of angiotensin II type 1a receptor knockout mice.
    J Biol Chem. 1998 Sep 11;273(37):24037-43 PMID: 9727021
  63. Determination of right ventricular structure and function in normoxic and hypoxic mice: a transesophageal echocardiographic study.
    Circulation. 1998 Sep 8;98(10):1015-21 PMID: 9737522
  64. Familial hypertrophic cardiomyopathy: from mutations to functional defects.
    Circ Res. 1998 Sep 21;83(6):580-93 PMID: 9742053
  65. Familial hypertrophic cardiomyopathy mice display gender differences in electrophysiological abnormalities.
    J Interv Card Electrophysiol. 1998 Mar;2(1):7-14 PMID: 9869991
  66. Conduction disturbances and increased atrial vulnerability in Connexin40-deficient mice analyzed by transesophageal stimulation.
    Circulation. 1999 Mar 23;99(11):1508-15 PMID: 10086977
  67. Loss of a gp130 cardiac muscle cell survival pathway is a critical event in the onset of heart failure during biomechanical stress.
    Cell. 1999 Apr 16;97(2):189-98 PMID: 10219240
  68. Alpha-cardiac actin is a novel disease gene in familial hypertrophic cardiomyopathy.
    J Clin Invest. 1999 May 15;103(10):R39-43 PMID: 10330430
  69. Cardiac-specific overexpression of RhoA results in sinus and atrioventricular nodal dysfunction and contractile failure.
    J Clin Invest. 1999 Jun;103(12):1627-34 PMID: 10377168
Article Info
Journal
The Journal of clinical investigation
Abbr.
J Clin Invest
ISSN
0021-9738
DOI
10.1172/JCI17612
Email
kchien@ucsd.edu
Published
2003-01-00
Pages
175-8
Language
English
Region
United States
NLM ID
7802877
PMCID
PMC151886
Subset
IM
Corrections
ErratumIn
-
CommentIn
PMID: 12531876
External Links
PubMed source DOI: 10.1172/JCI17612 PMC Full Text View journal details
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