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Volumn 52, Issue 1, 2011, Pages 67-76

AMPD1 gene mutations are associated with obesity and diabetes in polish patients with cardiovascular diseases

Author keywords

AMP deaminase 1; Coronary artery disease; Denaturing high performance liquid chromatography; Diabetes; Heart failure; Human genetics; Obesity

Indexed keywords


EID: 79955031847     PISSN: 12341983     EISSN: None     Source Type: Journal    
DOI: 10.1007/s13353-010-0009-x     Document Type: Article
Times cited : (14)

References (43)
  • 1
    • 84972545970 scopus 로고
    • A survey of exact inference for contingency tables
    • Agresti A (1992) A survey of exact inference for contingency tables. Stat Sci 7:131-177
    • (1992) Stat Sci , vol.7 , pp. 131-177
    • Agresti, A.1
  • 5
    • 13444269543 scopus 로고    scopus 로고
    • Haploview: Analysis and visualization of LD and haplotype maps
    • Barrett JC, Fry B, Maller J, Daly MJ (2005) Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics 21:263-65
    • (2005) Bioinformatics , vol.21 , pp. 263-265
    • Barrett, J.C.1    Fry, B.2    Maller, J.3    Daly, M.J.4
  • 7
    • 0001072895 scopus 로고
    • The use of confidence or fiducial limits illustrated in the case of the binomial
    • Clopper CJ, Pearson ES (1934) The use of confidence or fiducial limits illustrated in the case of the binomial. Biometrika 26:404-413
    • (1934) Biometrika , vol.26 , pp. 404-413
    • Clopper, C.J.1    Pearson, E.S.2
  • 9
    • 33748679351 scopus 로고    scopus 로고
    • The impact of the AMPD1 gene polymorphism on exercise capacity, other prognostic parameters, and survival in patients with stable congestive heart failure: A study in 686 consecutive patients
    • de Groote P, Lamblin N, Helbecque N, Mouquet F, Hermant X, Amouyel P, Dallongeville J, Bauters C (2006) The impact of the AMPD1 gene polymorphism on exercise capacity, other prognostic parameters, and survival in patients with stable congestive heart failure: a study in 686 consecutive patients. Am Heart J 152:736-741
    • (2006) Am Heart J , vol.152 , pp. 736-741
    • de Groote, P.1    Lamblin, N.2    Helbecque, N.3    Mouquet, F.4    Hermant, X.5    Amouyel, P.6    Dallongeville, J.7    Bauters, C.8
  • 10
    • 0035897696 scopus 로고    scopus 로고
    • Executive Summary of The Third Report of The National Cholesterol Education Program (NCEP) Expert Panel on Detection, Evaluation, and Treatment of High Blood Cholesterol in Adults (Adult Treatment Panel III)
    • Expert Panel on Detection, Evaluation, and Treatment of High Blood Cholesterol in Adults
    • Expert Panel on Detection, Evaluation, and Treatment of High Blood Cholesterol in Adults (2001) Executive Summary of The Third Report of The National Cholesterol Education Program (NCEP) Expert Panel on Detection, Evaluation, and Treatment of High Blood Cholesterol in Adults (Adult Treatment Panel III). JAMA 285:2486-2497
    • (2001) JAMA , vol.285 , pp. 2486-2497
  • 13
    • 0000029573 scopus 로고    scopus 로고
    • A competitive allele-specific oligomers polymerase chain reaction assay for the cis double mutation in AMPD1 that is the major cause of myo-adenylate deaminase deficiency
    • Fishbein WN, Davis JI, Foellmer JW, Nieves S, Merezhinskaya N (1997) A competitive allele-specific oligomers polymerase chain reaction assay for the cis double mutation in AMPD1 that is the major cause of myo-adenylate deaminase deficiency. Mol Diagn 2:121-128
    • (1997) Mol Diagn , vol.2 , pp. 121-128
    • Fishbein, W.N.1    Davis, J.I.2    Foellmer, J.W.3    Nieves, S.4    Merezhinskaya, N.5
  • 15
    • 2342542868 scopus 로고    scopus 로고
    • Role of adenosine monophosphate deaminase-1 gene polymorphism in patients with congestive heart failure (influence on tumor necrosis factor-alpha level and outcome)
    • Gastmann A, Sigusch HH, Henke A, Reinhardt D, Surber R, Gastmann O, Figulla HR (2004) 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) Am J Cardiol , vol.93 , pp. 1260-1264
    • Gastmann, A.1    Sigusch, H.H.2    Henke, A.3    Reinhardt, D.4    Surber, R.5    Gastmann, O.6    Figulla, H.R.7
  • 16
    • 0030046495 scopus 로고    scopus 로고
    • Mitochondria and diabetes. Genetic, biochemical, and clinical implications of the cellular energy circuit
    • Gerbitz KD, Gempel K, Brdiczka D (1996) Mitochondria and diabetes. Genetic, biochemical, and clinical implications of the cellular energy circuit. Diabetes 45:113-126
    • (1996) Diabetes , vol.45 , pp. 113-126
    • Gerbitz, K.D.1    Gempel, K.2    Brdiczka, D.3
  • 18
    • 0030969651 scopus 로고    scopus 로고
    • Clinical heterogeneity and molecular mechanisms in inborn muscle AMP deaminase deficiency
    • Gross M (1997) Clinical heterogeneity and molecular mechanisms in inborn muscle AMP deaminase deficiency. J Inherit Metab Dis 20:186-192
    • (1997) J Inherit Metab Dis , vol.20 , pp. 186-192
    • Gross, M.1
  • 20
    • 0026689178 scopus 로고
    • Performing the exact test of Hardy-Weinberg proportion for multiple alleles
    • Guo SW, Thompson EA (1992) Performing the exact test of Hardy-Weinberg proportion for multiple alleles. Biometrics 48:361-372
    • (1992) Biometrics , vol.48 , pp. 361-372
    • Guo, S.W.1    Thompson, E.A.2
  • 22
    • 41149098915 scopus 로고    scopus 로고
    • AMP deaminase deficiency in skeletal muscle is unlikely to be of clinical relevance
    • Hanisch F, Joshi P, Zierz S (2008) AMP deaminase deficiency in skeletal muscle is unlikely to be of clinical relevance. J Neurol 255:318-322
    • (2008) J Neurol , vol.255 , pp. 318-322
    • Hanisch, F.1    Joshi, P.2    Zierz, S.3
  • 23
    • 35348983887 scopus 로고    scopus 로고
    • A second generation human haplotype map of over 3.1 million SNPs
    • International HapMap Consortium
    • International HapMap Consortium (2007) A second generation human haplotype map of over 3.1 million SNPs. Nature 449:851-861
    • (2007) Nature , vol.449 , pp. 851-861
  • 24
    • 26244451261 scopus 로고    scopus 로고
    • Myoadenylate deaminase deficiency caused by alternative splicing due to a novel intronic mutation in the AMPD1 gene
    • Isackson PJ, Bujnicki H, Harding CO, Vladutiu GD (2005) Myoadenylate deaminase deficiency caused by alternative splicing due to a novel intronic mutation in the AMPD1 gene. Mol Genet Metab 86:250-256
    • (2005) Mol Genet Metab , vol.86 , pp. 250-256
    • Isackson, P.J.1    Bujnicki, H.2    Harding, C.O.3    Vladutiu, G.D.4
  • 25
    • 0032878113 scopus 로고    scopus 로고
    • Optimal temperature selection for mutation detection by denaturing HPLC and comparison to single-stranded conformation polymorphism and heteroduplex analysis
    • Jones AC, Austin J, Hansen N, Hoogendoorn B, Oefner PJ, Cheadle JP, O'Donovan MC (1999) Optimal temperature selection for mutation detection by denaturing HPLC and comparison to single-stranded conformation polymorphism and heteroduplex analysis. Clin Chem 45:1133-1140
    • (1999) Clin Chem , vol.45 , pp. 1133-1140
    • Jones, A.C.1    Austin, J.2    Hansen, N.3    Hoogendoorn, B.4    Oefner, P.J.5    Cheadle, J.P.6    O'Donovan, M.C.7
  • 29
    • 0033596881 scopus 로고    scopus 로고
    • Common variant in AMPD1 gene predicts improved clinical outcome in patients with heart failure
    • Loh E, Rebbeck TR, Mahoney PD, DeNofrio D, Swain JL, Holmes EW (1999) Common variant in AMPD1 gene predicts improved clinical outcome in patients with heart failure. Circulation 99:1422-1425
    • (1999) Circulation , vol.99 , pp. 1422-1425
    • Loh, E.1    Rebbeck, T.R.2    Mahoney, P.D.3    de Nofrio, D.4    Swain, J.L.5    Holmes, E.W.6
  • 31
    • 36849045183 scopus 로고    scopus 로고
    • Characterization of the metallocenter of rabbit skeletal muscle AMP deaminase. A new model for substrate interactions at a dinuclear cocatalytic Zn site
    • Martini D, Ranieri-Raggi M, Sabbatini AR, Moir AJ, Polizzi E, Mangani S, Raggi A (2007) Characterization of the metallocenter of rabbit skeletal muscle AMP deaminase. A new model for substrate interactions at a dinuclear cocatalytic Zn site. Biochim Biophys Acta 1774:1508-1518
    • (2007) Biochim Biophys Acta , vol.1774 , pp. 1508-1518
    • Martini, D.1    Ranieri-Raggi, M.2    Sabbatini, A.R.3    Moir, A.J.4    Polizzi, E.5    Mangani, S.6    Raggi, A.7
  • 32
    • 0025310830 scopus 로고
    • Adenylate deaminase. A multigene family in humans and rats
    • Morisaki T, Sabina RL, Holmes EW (1990) Adenylate deaminase. A multigene family in humans and rats. J Biol Chem 265:11482-11486
    • (1990) J Biol Chem , vol.265 , pp. 11482-11486
    • Morisaki, T.1    Sabina, R.L.2    Holmes, E.W.3
  • 34
    • 0027213327 scopus 로고
    • Alternative splicing: A mechanism for phenotypic rescue of a common inherited defect
    • Morisaki H, Morisaki T, Newby LK, Holmes EW (1993) Alternative splicing: a mechanism for phenotypic rescue of a common inherited defect. J Clin Invest 91:2275-2280
    • (1993) J Clin Invest , vol.91 , pp. 2275-2280
    • Morisaki, H.1    Morisaki, T.2    Newby, L.K.3    Holmes, E.W.4
  • 35
    • 0034537169 scopus 로고    scopus 로고
    • First missense mutations (R388W and R425H) of AMPD1 accompanied with myopathy found in a Japanese patient
    • Morisaki H, Higuchi I, Abe M, Osame M, Morisaki T (2000) First missense mutations (R388W and R425H) of AMPD1 accompanied with myopathy found in a Japanese patient. Hum Mutat 16:467-472
    • (2000) Hum Mutat , vol.16 , pp. 467-472
    • Morisaki, H.1    Higuchi, I.2    Abe, M.3    Osame, M.4    Morisaki, T.5
  • 36
    • 0031694689 scopus 로고    scopus 로고
    • Genetic and other determinants of AMP deaminase activity in healthy adult skeletal muscle
    • Norman B, Mahnke-Zizelman DK, Vallis A, Sabina RL (1998) Genetic and other determinants of AMP deaminase activity in healthy adult skeletal muscle. J Appl Physiol 85:1273-1278
    • (1998) J Appl Physiol , vol.85 , pp. 1273-1278
    • Norman, B.1    Mahnke-Zizelman, D.K.2    Vallis, A.3    Sabina, R.L.4
  • 37
    • 0019130655 scopus 로고
    • Disruption of the purine nucleotide cycle. A potential explanation for muscle dysfunction in myoadenylate deaminase deficiency
    • Sabina RL, Swain JL, Patten BM, Ashizawa T, O'Brien WE, Holmes EW (1980) Disruption of the purine nucleotide cycle. A potential explanation for muscle dysfunction in myoadenylate deaminase deficiency. J Clin Invest 66:1419-1423
    • (1980) J Clin Invest , vol.66 , pp. 1419-1423
    • Sabina, R.L.1    Swain, J.L.2    Patten, B.M.3    Ashizawa, T.4    O'Brien, W.E.5    Holmes, E.W.6
  • 41
    • 10944256767 scopus 로고    scopus 로고
    • Systematic identification and analysis of exonic splicing silencers
    • Wang Z, Rolish ME, Yeo G, Tung V, Mawson M, Burge CB (2004) Systematic identification and analysis of exonic splicing silencers. Cell 119:831-845
    • (2004) Cell , vol.119 , pp. 831-845
    • Wang, Z.1    Rolish, M.E.2    Yeo, G.3    Tung, V.4    Mawson, M.5    Burge, C.B.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.