Genetic polymorphisms in dilated cardiomyopathy

Frontiers in Bioscience - Scholar

Volumn 2 S, Issue 2, 2010, Pages 653-676

  Stambader, Johann Daniel ^a   Dorn, Livia ^a   Mikuz, Gregor ^a   Sergi, Consolato ^a  

^a MEDICAL UNIVERSITY OF INNSBRUCK   (Austria)

Author keywords

Dilated cardiomyopthy; DNA; Etiology; Heart; Review; Single nucleotide polymorphisms

Indexed keywords

EID: 84883381204     PISSN: 19450516     EISSN: 19450524     Source Type: Journal    
DOI: None     Document Type: Review

References (87)

1. S Tsubata, KR Bowles, M Vatta, C Zintz, J Titus, L Muhonen, NE Bowles, JA Towbins: Mutations in the human delta-sarcoglycan gene in familial and sporadic dilated cardiomyopathy. J Clin Invest 106, 655-662 (2000)
2. V Ruppert, D Nolte, T Aschenbrenner, S Pankuweit, R Funck, B Maischs: Novel point mutations in the mitochondrial DNA detected in patients with dilated cardiomyopathy by screening the whole mitochondrial genome. Biochem Biophys Res Commun 318, 535-543 (2004) (Pubitemid 38553813)
3. P Charron, M Komajdas: Are we ready for pharmacogenomics in heart failure? Eur J Pharmacol 417, 1-9 (2001) (Pubitemid 32299862)
4. N Sylvius, L Duboscq-Bidot, C Bouchier, P Charron, A Benaiche, P Sebillon, M Komajda, E Villards: Mutational analysis of the beta- and delta-sarcoglycan genes in a large number of patients with familial and sporadic dilated cardiomyopathy. Am J Med Genet A 120A, 8-12 (2003) (Pubitemid 37063824)
5. S Hiroi, H Harada, H Nishi, M Satoh, R Nagai, A Kimuras: Polymorphisms in the SOD2 and HLA-DRB1 genes are associated with nonfamilial idiopathic dilated cardiomyopathy in Japanese. Biochem Biophys Res Commun 261, 332-339 (1999) (Pubitemid 29392477)
6. L Mangin, P Charron, F Tesson, A Mallet, O Dubourg, M Desnos, A Benaische, C Gayet, P Gibelin, JM Davy, J Bonnet, D Sidi, K Schwartz, M Komajdas: Familial dilated cardiomyopathy: clinical features in French families. Eur J Heart Fail 1, 353-361 (1999) (Pubitemid 30131043)
7. S Karkkainen, R Miettinen, P Tuomainen, P Karkkainen, T Helio, E Reissell, M Kaartinen, L Toivonen, MS Nieminen, J Kuusisto, M Laakso, K Peuhkurinens: A novel mutation, Arg71Thr, in the delta-sarcoglycan gene is associated with dilated cardiomyopathy. J Mol Med 81, 795-800 (2003) (Pubitemid 38058162)
8. Y Miyamoto, H Akita, N Shiga, E Takai, C Iwai, K Mizutani, H Kawai, A Takarada, M Yokoyamas: Frequency and clinical characteristics of dilated cardiomyopathy caused by desmin gene mutation in a Japanese population. Eur Heart J 22, 2284-2289 (2001) (Pubitemid 34000984)
9. L Mestroni, C Rocco, D Gregori, G Sinagra, A Di Lenarda, S Miocic, M Vatta, B Pinamonti, F Muntoni, AL Caforio, WJ McKenna, A Falaschi, M Giacca, Camerinis: Familial dilated cardiomyopathy: evidence for genetic and phenotypic heterogeneity. Heart Muscle Disease Study Group. J Am Coll Cardiol 34, 181-190 (1999)
10. F Muntoni, M Cau, A Ganau, R Congiu, G Arvedi, A Mateddu, MG Marrosu, C Cianchetti, G Realdi, A Cao, et al.: Brief report: deletion of the dystrophin muscle-promoter region associated with X-linked dilated cardiomyopathy. N Engl J Med 329, 921-925 (1993) (Pubitemid 23275273)
11. DG Wang, JB Fan, CJ Siao, A Berno, P Young, R Sapolsky, G Ghandour, N Perkins, E Winchester, J Spencer, L Kruglyak, L Stein, L Hsie, T Topaloglou, E Hubbell, E Robinson, M Mittmann, MS Morris, N Shen, D Kilburn, J Rioux, C Nusbaum, S Rozen, TJ Hudson, R Lipshutz, M Chee, ES Landers: Large-scale identification, mapping, and genotyping of single-nucleotide polymorphisms in the human genome. Science 280, 1077-1082 (1998) (Pubitemid 28234949)
12. N Risch, K Merikangass: The future of genetic studies of complex human diseases. Science 273, 1516-1517 (1996) (Pubitemid 26301653)
13. YH Shim, HS Kim, S Sohn, YM Hongs: Insertion/deletion polymorphism of angiotensin converting enzyme gene in Kawasaki disease. J Korean Med Sci 21, 208-211 (2006) (Pubitemid 43763990)
14. FS Malik, CJ Lavie, MR Mehra, RV Milani, RN Res: Renin-angiotensin system: genes to bedside. Am Heart J 134, 514-526 (1997) (Pubitemid 27431258)
15. B Kucukarabaci, A Birdane, HV Gunes, N Ata, I Degirmenci, A Basaran, B Timuralps: Association between angiotensin converting enzyme (ACE) gene I/D polymorphism frequency and plasma ACE concentration in patients with idiopathic dilated cardiomyopathy. Anadolu Kardiyol Derg 8, 65-66 (2008) (Pubitemid 351266070)
16. GP Candy, D Skudicky, UK Mueller, AJ Woodiwiss, K Sliwa, F Luker, J Esser, P Sareli, GR Nortons: Association of left ventricular systolic performance and cavity size with angiotensin-converting enzyme genotype in idiopathic dilated cardiomyopathy. Am J Cardiol 83, 740-744 (1999) (Pubitemid 29115447)
17. MA Cuoco, AC Pereira, HF de Freitas, G de Fatima Alves da Mota, JT Fukushima, JE Krieger, AJ Mansurs: Angiotensin-converting enzyme gene deletion polymorphism modulation of onset of symptoms and survival rate of patients with heart failure. Int J Cardiol 99, 97-103 (2005) (Pubitemid 40261031)
18. MR Abraham, LJ Olson, MJ Joyner, ST Turner, KC Beck, BD Johnsons: Angiotensin-converting enzyme genotype modulates pulmonary function and exercise capacity in treated patients with congestive stable heart failure. Circulation 106, 1794-1799 (2002)
19. M Komajda, P Charron, F Tessons: Genetic aspects of heart failure. Eur J Heart Fail 1, 121-126 (1999) (Pubitemid 30186701)
20. V Vancura, J Hubacek, I Malek, M Gebauerova, J Pitha, Z Dorazilova, M Langova, M Zelizko, R Polednes: Does angiotensin-converting enzyme polymorphism influence the clinical manifestation and progression of heart failure in patients with dilated cardiomyopathy? Am J Cardiol 83, 461-462, A10 (1999)
21. JE Sanderson, RP Young, CM Yu, S Chan, JA Critchley, KS Woos: Lack of association between insertion/deletion polymorphism of the angiotensin- converting enzyme gene and end-stage heart failure due to ischemic or idiopathic dilate cardiomyopathy in the Chinese. Am J Cardiol 77, 1008-1010 (1996) (Pubitemid 26158093)
22. A Schmidt, HP Kiener, U Barnas, I Arias, A Illievich, M Auinger, W Graninger, A Kaider, G Mayers: Angiotensin-converting enzyme polymorphism in patients with terminal renal failure. J Am Soc Nephrol 7, 314-317 (1996) (Pubitemid 26092481)
23. HE Montgomery, PJ Keeling, JH Goldman, SE Humphries, PJ Talmud, WJ McKennas: Lack of association between the insertion/deletion polymorphism of the angiotensin-converting enzyme gene and idiopathic dilated cardiomyopathy. J Am Coll Cardiol 25, 1627-1631 (1995)
24. L Tiret, C Mallet, O Poirier, V Nicaud, A Millaire, JB Bouhour, G Roizes, M Desnos, R Dorent, K Schwartz, F Cambien, M Komajdas: Lack of association between polymorphisms of eight candidate genes and idiopathic dilated cardiomyopathy: the CARDIGENE study. J Am Coll Cardiol 35, 29-35 (2000) (Pubitemid 30061255)
25. OA Kajander, M Kupari, M Perola, J Pajarinen, V Savolainen, A Penttila, PJ Karhunens: Testing genetic susceptibility loci for alcoholic heart muscle disease. Alcohol Clin Exp Res 25, 1409-1413 (2001) (Pubitemid 32976823)
26. AD Tiago, D Badenhorst, D Skudicky, AJ Woodiwiss, GP Candy, R Brooksbank, K Sliwa, P Sareli, GR Nortons: An aldosterone synthase gene variant is associated with improvement in left ventricular ejection fraction in dilated cardiomyopathy. Cardiovasc Res 54, 584-589 (2002) (Pubitemid 34595417)
27. AH Bruggink, MF van Oosterhout, N De Jonge, FH Gmelig-Meyling, RA De Wegers: TNFalpha in patients with end-stage heart failure on medical therapy or supported by a left ventricular assist device. Transpl Immunol 19, 64-68 (2008)
28. SA Drigo, E Cunha-Neto, B Ianni, C Mady, KC Fae, P Buck, J Kalil, AC Goldbergs: Lack of association of tumor necrosis factor-alpha polymorphisms with Chagas disease in Brazilian patients. Immunol Lett 108, 109-111 (2007) (Pubitemid 44970494)
29. SA Drigo, E Cunha-Neto, B Ianni, MR Cardoso, PE Braga, KC Fae, VL Nunes, P Buck, C Mady, J Kalil, AC Goldbergs: TNF gene polymorphisms are associated with reduced survival in severe Chagas' disease cardiomyopathy patients. Microbes Infect 8, 598-603 (2006) (Pubitemid 44316505)
30. M Alikasifoglu, L Tokgozoglu, T Acil, E Atalar, M Ali Oto, S Sirri Kes, E Tuncbileks: Tumor necrosis factor-alpha polymorphism in Turkish patients with dilated cardiomyopathy. Eur J Heart Fail 5, 161-163 (2003) (Pubitemid 36383623)
31. M Ito, H Takahashi, K Fuse, S Hirono, T Washizuka, K Kato, F Yamazaki, K Inano, T Furukawa, M Komada, Y Aizawas: Polymorphisms of tumor necrosis factor-alpha and interleukin-10 genes in Japanese patients with idiopathic dilated cardiomyopathy Jpn Heart J 41, 183-191 (2000) (Pubitemid 30332957)
32. FJ Bijlsma, J vanKuik, MG Tilanus, N deJonge, EH Rozemuller, JG van den Tweel, FH Gmelig-Meyling, RA deWegers: Donor interleukin-4 promoter gene polymorphism influences allograft rejection after heart transplantation J Heart Lung Transplant 21, 340-346 (2002) (Pubitemid 34224097)
33. FJ Bijlsma, AH Bruggink, M Hartman, FH Gmelig-Meyling, MG Tilanus, N de Jonge, RA de Wegers: No association between IL-10 promoter gene polymorphism and heart failure or rejection following cardiac tran splantation. Tissue Antigens 57, 151-153 (2001) (Pubitemid 32245236)
34. K Haghighi, G Chen, Y Sato, GC Fan, S He, F Kolokathis, L Pater, I Paraskevaidis, WK Jones, GW Dorn, 2nd, DT Kremastinos, EG Kraniass: A human phospholamban promoter polymorphism in dilated cardiomyopathy alters transcriptional regulation by glucocorticoids. Hum Mutat 29, 640-647 (2008) (Pubitemid 351614588)
35. E Villard, L Duboscq-Bidot, P Charron, A Benaiche, V Conraads, N Sylvius, M Komajdas: Mutation screening in dilated cardiomyopathy: prominent role of the beta myosin heavy chain gene Eur Heart J 26, 794-803 (2005) (Pubitemid 40547081)
36. KC Fae, SA Drigo, E Cunha-Neto, B Ianni, C Mady, J Kalil, AC Goldbergs: HLA and beta-myosin heavy chain do not influence susceptibility to Chagas disease cardiomyopathy. Microbes Infect 2, 745-751 (2000) (Pubitemid 30451215)
37. N Nakano, H Hori, M Abe, H Shibata, T Arimura, T Sasaoka, M Sawabe, K Chida, T Arai, K Nakahara, T Kubo, K Sugimoto, T Katsuya, T Ogihara, Y Doi, T Izumi, A Kimuras: Interaction of BMP10 with Tcap may modulate the course of hypertensive cardiac hypertrophy. Am J Physiol Heart Circ Physiol 293, H3396-3403 (2007) (Pubitemid 350230881)
38. Y Matsumoto, T Hayashi, N Inagaki, M Takahashi, S Hiroi, T Nakamura, T Arimura, K Nakamura, N Ashizawa, M Yasunami, T Ohe, K Yano, A Kimuras: Functional analysis of titin/connectin N2-B mutations found in cardiomyopathy. J Muscle Res Cell Motil 26, 367-374 (2005)
39. A Lin, WH Yan, HH Xu, LJ Tang, XF Chen, M Zhu, MY Zhous: 14 bp deletion polymorphism in the HLA-G gene is a risk factor for idiopathic dilated cardiomyopathy in a Chinese Han population. Tissue Antigens 70, 427-431 (2007) (Pubitemid 47537405)
40. W Liu, W L.i., N Suns: Association of HLA-DQ with idiopathic dilated cardiomyopathy in a northern Chinese Han population. Cell Mol Immunol 1, 311-314 (2004)
41. W Liu, WM Li, NL Suns: Polymorphism of the second exon of human leukocyte antigen-DQA1, -DQB1 gene and genetic susceptibility to idiopathic dilated cardiomyopathy in people of the Han nationality in northern China. Chin Med J (Engl) 118, 238-241 (2005) (Pubitemid 40268179)
42. W Liu, WM Li, NL Suns: Relationship between HLA-DQA1 polymorphism and genetic susceptibility to idiopathic dilated cardiomyopathy. Chin Med J (Engl) 117, 1449-1452 (2004) (Pubitemid 39530219)
43. D Shichi, EF Kikkawa, M Ota, Y Katsuyama, A Kimura, A Matsumori, JK Kulski, TK Naruse, H Inokos: The haplotype block, NFKBIL1-ATP6V1G2-BAT1-MICB- MICA, within the class III-class I boundary region of the human major histocompatibility complex may control susceptibility to hepatitis C virus-associated dilated cardiomyopathy. Tissue Antigens 66, 200-208 (2005) (Pubitemid 41243308)
44. V Regitz-Zagrosek, B Hocher, M Bettmann, M Brede, K Hadamek, C Gerstner, HB Lehmkuhl, R Hetzer, L Heins: Alpha2C-adrenoceptor polymorphism is associated with improved event-free survival in patients with dilated cardiomyopathy. Eur Heart J 27, 454-459 (2006) (Pubitemid 43209171)
45. S Nonen, H Okamoto, M Akino, Y Matsui, Y Fujio, M Yoshiyama, Y Takemoto, J Yoshikawa, J Azuma, A Kitabatakes: No positive association between adrenergic receptor variants of alpha2cDel322-325, beta1Ser49, beta1Arg389 and the risk for heart failure in the Japanese population. Br J Clin Pharmacol 60, 414-417 (2005) (Pubitemid 41428472)
46. K Wenzel, SB Felix, D Bauer, P Heere, C Flachmeier, S Podlowski, K Kopke, MR Hoehe: Novel variants in 3 kb of 5'UTR of the beta 1-adrenergic receptor gene (-93C>T, -210C>T, and -2146T>C): -2146C homozygotes present in patients with idiopathic dilated cardiomyopathy and coronary heart disease. Hum Mutat 16, 534 (2000)
47. C Iwai, H Akita, N Shiga, E Takai, Y Miyamoto, M Shimizu, H Kawai, A Takarada, T Kajiya, M Yokoyamas: Suppressive effect of the Gly389 allele of the beta1-adrenergic receptor gene on the occurrence of ventricular tachycardia in dilated cardiomyopathy. Circ J 66, 723-728 (2002)
48. K Leineweber, G Tenderich, C Wolf, S Wagner, A Zittermann, M Elter-Schulz, R Moog, N Muller, HG Jakob, R Korfer, T Philipp, G Heusch, OE Broddes: Is there a role of the Thr164Ile-beta (2)-adrenoceptor polymorphism for the outcome of chronic heart failure? Basic Res Cardiol 101, 479-484 (2006) (Pubitemid 44637863)
49. T Konno, M Shimizu, H Ino, T Matsuyama, M Yamaguchi, H Terai, K Hayashi, T Mabuchi, M Kiyama, K Sakata, T Hayashi, M Inoue, T Kaneda, H Mabuchis: A novel missense mutation in the myosin binding protein-C gene is responsible for hypertrophic cardiomyopathy with left ventricular dysfunction and dilation in elderly patients. J Am Coll Cardiol 41, 781-786 (2003) (Pubitemid 36308385)
50. RT Murphy, J Mogensen, A Shaw, T Kubo, S Hughes, WJ McKennas: Novel mutation in cardiac troponin I in recessive idiopathic dilated cardiomyopathy. Lancet 363, 371-372 (2004) (Pubitemid 38169547)
51. AN Chang, JD Potters: Sarcomeric protein mutations in dilated cardiomyopathy. Heart Fail Rev 10, 225-235 (2005) (Pubitemid 43115832)
52. TM Olson, VV Michels, SN Thibodeau, YS Tai, MT Keatings: Actin mutations in dilated cardiomyopathy, a heritable form of heart failure. Science 280, 750-752 (1998) (Pubitemid 28243352)
53. L Monserrat, M Hermida-Prieto, X Fernandez, I Rodriguez, C Dumont, L Cazon, MG Cuesta, C Gonzalez-Juanatey, J Peteiro, N Alvarez, M Penas-Lado, A Castro-Beirass: Mutation in the alpha-cardiac actin gene associated with apical hypertrophic cardiomyopathy, left ventricular non-compaction, and septal defects. Eur Heart J 28, 1953-1961 (2007) (Pubitemid 47579548)
54. F Tesson, N Sylvius, A Pilotto, L Dubosq-Bidot, M Peuchmaurd, C Bouchier, A Benaiche, L Mangin, P Charron, A Gavazzi, L Tavazzi, E Arbustini, M Komajdas: Epidemiology of desmin and cardiac actin gene mutations in a european population of dilated cardiomyopathy. Eur Heart J 21, 1872-1876 (2000)
55. S Karkkainen, K Peuhkurinen, P Jaaskelainen, R Miettinen, P Karkkainen, J Kuusisto, M Laaksos: No variants in the cardiac actin gene in Finnish patients with dilated or hypertrophic cardiomyopathy. Am Heart J 143, E6 (2002)
56. TM Olson, TP Doan, NY Kishimoto, FG Whitby, MJ Ackerman, L Fananapazirs: Inherited and de novo mutations in the cardiac actin gene cause hypertrophic cardiomyopathy. J Mol Cell Cardiol 32, 1687-1694 (2000)
57. JD Marshall, EG Hinman, GB Collin, S Beck, R Cerqueira, P Maffei, G Milan, W Zhang, DI Wilson, T Hearn, P Tavares, R Vettor, C Veronese, M Martin, WV So, PM Nishina, JK Naggerts: Spectrum of ALMS1 variants and evaluation of genotype-phenotype correlations in Alstrom syndrome. Hum Mutat 28, 1114-1123 (2007) (Pubitemid 350036916)
58. S Herrmann, K Schmidt-Petersen, J Pfeifer, A Perrot, N Bit-Avragim, C Eichhorn, R Dietz, R Kreutz, M Paul, KJ Osterziels: A polymorphism in the endothelin-A receptor gene predicts survival in patients with idiopathic dilated cardiomyopathy. Eur Heart J 22, 1948-1953 (2001) (Pubitemid 33054675)
59. H Milting, N Lukas, B Klauke, R Korfer, A Perrot, KJ Osterziel, J Vogt, S Peters, R Thieleczek, M Varsanyis: Composite polymorphisms in the ryanodine receptor 2 gene associated with arrhythmogenic right ventricular cardiomyopathy. Cardiovasc Res 71, 496-505 (2006) (Pubitemid 44131528)
60. D Jurkovicova, E Goncalvesova, B Sedlakova, S Hudecova, J Fabian, O Krizanovas: Is the ApoE polymorphism associated with dilated cardiomyopathy? Gen Physiol Biophys 25, 3-10 (2006) (Pubitemid 43797126)
61. J Hofman-Bang, ER Behr, P Hedley, J Tfelt-Hansen, JK Kanters, S Haunsoe, WJ McKenna, M Christiansens: High-efficiency multiplex capillary electrophoresis single strand conformation polymorphism (multi-CE-SSCP) mutation screening of SCN5A: a rapid genetic approach to cardiac arrhythmia. Clin Genet 69, 504-511 (2006)
62. H Thude, K Gerlach, B Richartz, A Krack, B Brenke, K Pethig, HR Figulla, D Barzs: No association between transmembrane protein-tyrosine phosphatase receptor type C (CD45) exon A point mutation (77C>G) and idiopathic dilated cardiomyopathy. Hum Immunol 66, 1008-1012 (2005) (Pubitemid 41790537)
63. R Ruiz-Sanchez, MP Leon, V Matta, PA Reyes, R Lopez, D Jay, VM Monteons: Trypanosoma cruzi isolates from Mexican and Guatemalan acute and chronic chagasic cardiopathy patients belong to Trypanosoma cruzi I. Mem Inst Oswaldo Cruz 100, 281-283 (2005) (Pubitemid 40874719)
64. G Adhikary, S Gupta, P Sil, Y Saad, S Sens: Characterization and functional significance of myotrophin: a gene with multiple transcripts. Gene 353, 31-40 (2005) (Pubitemid 40805358)
65. TM Olson, S Illenberger, NY Kishimoto, S Huttelmaier, MT Keating, BM Jockuschs: Metavinculin mutations alter actin interaction in dilated cardiomyopathy. Circulation 105, 431-437 (2002) (Pubitemid 34141698)
66. M Hermida-Prieto, L Monserrat, A Castro-Beiras, R Laredo, R Soler, J Peteiro, E Rodriguez, B Bouzas, N Alvarez, J Muniz, M Crespo-Leiros: Familial dilated cardiomyopathy and isolated left ventricular noncompaction associated with lamin A/C gene mutations. Am J Cardiol 94, 50-54 (2004) (Pubitemid 38813453)
67. E Arbustini, A Pilotto, A Repetto, M Grasso, A Negri, M Diegoli, C Campana, L Scelsi, E Baldini, A Gavazzi, L Tavazzis: Autosomal dominant dilated cardiomyopathy with atrioventricular block: a lamin A/C defect-related disease. J Am Coll Cardiol 39, 981-990 (2002) (Pubitemid 34234120)
68. RA Speckman, A Garg, F D.u., L Bennett, R Veile, E Arioglu, SI Taylor, M Lovett, AM Bowcocks: Mutational and haplotype analyses of families with familial partial lipodystrophy (Dunnigan variety) reveal recurrent missense mutations in the globular C-terminal domain of lamin A/C. Am J Hum Genet 66, 1192-1198 (2000) (Pubitemid 30468776)
69. DD Patel, A Kapoor, A Ayyagari, TN Dholes: Development of a simple restriction fragment length polymorphism assay for subtyping of coxsackie B viruses. J Virol Methods 120, 167-172 (2004) (Pubitemid 39037405)
70. NE Bowles, F Javier Fuentes-Garcia, KA Makar, H Li, J Gibson, F Soto, PL Schwimmbeck, HP Schultheiss, M Pauschingers: Analysis of the coxsackievirus B-adenovirus receptor gene in patients with myocarditis or dilated cardiomyopathy. Mol Genet Metab 77, 257-259 (2002) (Pubitemid 35333832)
71. A Gastmann, HH Sigusch, A Henke, D Reinhardt, R Surber, O Gastmann, HR Figullas: Role of adenosine monophosphate deaminase-1 gene polymorphism in patients with congestive heart failure (influence on tumor necrosis factor-alpha level and outcome) Am J Cardiol 93, 1260-1264 (2004) (Pubitemid 38595680)
72. T Arimura, T Hayashi, H Terada, SY Lee, Q Zhou, M Takahashi, K Ueda, T Nouchi, S Hohda, M Shibutani, M Hirose, J Chen, JE Park, M Yasunami, H Hayashi, A Kimuras: A Cypher/ZASP mutation associated with dilated cardiomyopathy alters the binding affinity to protein kinase C. J Biol Chem 279, 6746-6752 (2004) (Pubitemid 38248815)
73. U Philipp, C Broschk, A Vollmar, O Distl: Evaluation of tafazzin as candidate for dilated cardiomyopathy in Irish wolfhounds. J Hered 98, 506-509 (2007) (Pubitemid 47357588)
74. P Dazert, K Meissner, S Vogelgesang, B Heydrich, L Eckel, M Bohm, R Warzok, R Kerb, U Brinkmann, E Schaeffeler, M Schwab, I Cascorbi, G Jedlitschky, HK Kroemers: Expression and localization of the multidrug resistance protein 5 (MRP5/ABCC5), a cellular export pump for cyclic nucleotides, in human heart. Am J Pathol 163, 1567-1577 (2003) (Pubitemid 37175103)
75. P Hedera, EM Petty, MR Bui, M Blaivas, JK Finks: The second kindred with autosomal dominant distal myopathy linked to chromosome 14q: genetic and clinical analysis. Arch Neurol 60, 1321-1325 (2003) (Pubitemid 37099644)
76. O Poirier, V Nicaud, T McDonagh, HJ Dargie, M Desnos, R Dorent, G Roizes, K Schwartz, L Tiret, M Komajda, F Cambiens: Polymorphisms of genes of the cardiac calcineurin pathway and cardiac hypertrophy. Eur J Hum Genet 11, 659-664 (2003) (Pubitemid 37160986)
77. E Takai, H Akita, K Kanazawa, N Shiga, M Terashima, Y Matsuda, C Iwai, Y Miyamoto, H Kawai, A Takarada, M Yokoyamas: Association between aldosterone synthase (CYP11B2) gene polymorphism and left ventricular volume in patients with dilated cardiomyopathy. Heart 88, 649-650 (2002) (Pubitemid 35418094)
78. T Arimura, T Nakamura, S Hiroi, M Satoh, M Takahashi, N Ohbuchi, K Ueda, T Nouchi, N Yamaguchi, J Akai, A Matsumori, S Sasayama, A Kimuras: Characterization of the human nebulette gene: a polymorphism in an actin-binding motif is associated with nonfamilial idiopathic dilated cardiomyopathy. Hum Genet 107, 440-451 (2000) (Pubitemid 32000413)
79. CT Holweg, CC Baan, HG Niesters, PJ Vantrimpont, PG Mulder, AP Maat, W Weimar, AH Balks: TGF-beta1 gene polymorphisms in patients with end-stage heart failure. J Heart Lung Transplant 20, 979-984 (2001) (Pubitemid 32824144)
80. F Ichida, S Tsubata, KR Bowles, N Haneda, K Uese, T Miyawaki, WJ Dreyer, J Messina, H Li, NE Bowles, JA Towbins: Novel gene mutations in patients with left ventricular noncompaction or Barth syndrome. Circulation 103, 1256-1263 (2001) (Pubitemid 32221349)
81. J Erdmann, S Hassfeld, H Kallisch, E Fleck, V Regitz-Zagroses: Genetic variants in the promoter (g983G>T) and coding region (A92T) of the human cardiotrophin-1 gene (CTF1) in patients with dilated cardiomyopathy. Hum Mutat 16, 448 (2000)
82. KJ Nowak, D Wattanasirichaigoon, HH Goebel, M Wilce, K Pelin, K Donner, RL Jacob, C Hubner, K Oexle, JR Anderson, CM Verity, KN North, ST Iannaccone, CR Muller, P Nurnberg, F Muntoni, C Sewry, I Hughes, R Sutphen, AG Lacson, KJ Swoboda, J Vigneron, C Wallgren-Pettersson, AH Beggs, NG Laings: Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy. Nat Genet 23, 208-212 (1999) (Pubitemid 29455395)
83. LL Bachinski, A Abchee, JB Durand, R Roberts, R Krahe, GM Hobsons: Polymorphic trinucleotide repeat in the MEF2A gene at 15q26 is not expanded in familial cardiomyopathies. Mol Cell Probes 11, 55-58 (1997) (Pubitemid 27117077)
84. KR Bowles, R Gajarski, P Porter, V Goytia, L Bachinski, R Roberts, R Pignatelli, JA Towbins: Gene mapping of familial autosomal dominant dilated cardiomyopathy to chromosome 10q21-23. J Clin Invest 98, 1355-1360 (1996) (Pubitemid 26322060)
85. AK Gedeon, MJ Wilson, AC Colley, DO Sillence, JC Mulleys: X linked fatal infantile cardiomyopathy maps to Xq28 and is possibly allelic to Barth syndrome. J Med Genet 32, 383-388 (1995)
86. N Sylvius, F Tesson, C Gayet, P Charron, A Benaiche, M Peuchmaurd, L Duboscq-Bidot, J Feingold, JS Beckmann, C Bouchier, M Komajdas: A new locus for autosomal dominant dilated cardiomyopathy identified on chromosome 6q12-q16. Am J Hum Genet 68, 241-246 (2001) (Pubitemid 32048381)
87. LE Wagoner, LL Craft, B Singh, DP Suresh, PW Zengel, N McGuire, WT Abraham, TC Chenier, GW Dorn, 2nd, SB Liggetts: Polymorphisms of the beta (2)-adrenergic receptor determine exercise capacity in patients with heart failure. Circ Res 86, 834-840 (2000) (Pubitemid 30246979)