메뉴 건너뛰기




Volumn 24, Issue 4, 2010, Pages 270-277

The heteroplasmic m.14709T>C mutation in the tRNAGlu gene in two Tunisian families with mitochondrial diabetes

Author keywords

Diabetes mellitus; Heteroplasmy; m.14709T>C; m.3243A>G; Mitochondrial mutations

Indexed keywords

ADENINE; CYTOSINE; THYMINE; TRANSFER RNA;

EID: 77953022251     PISSN: 10568727     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jdiacomp.2009.11.002     Document Type: Article
Times cited : (28)

References (41)
  • 3
    • 55749104018 scopus 로고    scopus 로고
    • Hepatocyte nuclear factor 1 binding element within the promoter of microsomal triglyceride transfer protein (MTTP) gene is crucial for MTTP basal expression and insulin responsiveness
    • Au W.S., Lu L., Yeung C.M., Liu C.C., Wong O.G., Lai L., Kung H.F., and Lin M.C. Hepatocyte nuclear factor 1 binding element within the promoter of microsomal triglyceride transfer protein (MTTP) gene is crucial for MTTP basal expression and insulin responsiveness. Journal of Molecular Endocrinology 41 (2008) 229-238
    • (2008) Journal of Molecular Endocrinology , vol.41 , pp. 229-238
    • Au, W.S.1    Lu, L.2    Yeung, C.M.3    Liu, C.C.4    Wong, O.G.5    Lai, L.6    Kung, H.F.7    Lin, M.C.8
  • 5
  • 8
    • 58849117552 scopus 로고    scopus 로고
    • Prevalence of 15 mitochondrial DNA mutations among type 2 diabetic patients with or without clinical characteristics of maternally inherited diabetes and deafness
    • Crispim D., Estivalet A.A., Roisenberg I., Gross J.L., and Canani L.H. Prevalence of 15 mitochondrial DNA mutations among type 2 diabetic patients with or without clinical characteristics of maternally inherited diabetes and deafness. Arquivos Brasileiros de Endocrinologia e Metabologia 52 (2008) 1228-1235
    • (2008) Arquivos Brasileiros de Endocrinologia e Metabologia , vol.52 , pp. 1228-1235
    • Crispim, D.1    Estivalet, A.A.2    Roisenberg, I.3    Gross, J.L.4    Canani, L.H.5
  • 10
    • 0025666322 scopus 로고
    • Leu(UUR) gene associated with the MELAS subgroup of mitochondrial encephalopathies
    • Leu(UUR) gene associated with the MELAS subgroup of mitochondrial encephalopathies. Nature 348 (1990) 651-653
    • (1990) Nature , vol.348 , pp. 651-653
    • Goto, Y.1    Nonaka, I.2    Horai, S.3
  • 11
    • 0028917662 scopus 로고
    • Congenital encephalomyopathy and adult-onset myopathy and diabetes mellitus: Different phenotypic associations of a new heteroplasmic mtDNA tRNA glutamic acid mutation
    • Hanna M.G., Nelson I., Sweeney M.G., Cooper J.M., Watkins P.J., Morgan-Hughes J.A., and Harding A.E. Congenital encephalomyopathy and adult-onset myopathy and diabetes mellitus: Different phenotypic associations of a new heteroplasmic mtDNA tRNA glutamic acid mutation. American Journal of Human Genetics 56 (1995) 1026-1033
    • (1995) American Journal of Human Genetics , vol.56 , pp. 1026-1033
    • Hanna, M.G.1    Nelson, I.2    Sweeney, M.G.3    Cooper, J.M.4    Watkins, P.J.5    Morgan-Hughes, J.A.6    Harding, A.E.7
  • 13
    • 18844430007 scopus 로고    scopus 로고
    • Specific correlation between the wobble modification deficiency in mutant tRNAs and the clinical features of a human mitochondrial disease
    • Kirino Y., Goto Y., Campos I., Arenas Y., and Suzuki T. Specific correlation between the wobble modification deficiency in mutant tRNAs and the clinical features of a human mitochondrial disease. Proceedings of the National Academy of Sciences of USA 102 (2005) 7127-7132
    • (2005) Proceedings of the National Academy of Sciences of USA , vol.102 , pp. 7127-7132
    • Kirino, Y.1    Goto, Y.2    Campos, I.3    Arenas, Y.4    Suzuki, T.5
  • 15
    • 4344669851 scopus 로고    scopus 로고
    • Mitochondrial DNA mutations and non-syndromic sensorineural hearing loss
    • Kong W., Wang Q., Zheng X., and Cheng H. Mitochondrial DNA mutations and non-syndromic sensorineural hearing loss. Zhonghua Er Bi Yan Hou Ke Za Zhi 37 (2002) 338-342
    • (2002) Zhonghua Er Bi Yan Hou Ke Za Zhi , vol.37 , pp. 338-342
    • Kong, W.1    Wang, Q.2    Zheng, X.3    Cheng, H.4
  • 18
    • 0026739796 scopus 로고
    • A simple method for DNA extraction from leukocytes for use in PCR
    • Lewin H.A., and Stewart-Haynes J.A. A simple method for DNA extraction from leukocytes for use in PCR. Biotechniques 13 (1992) 522-524
    • (1992) Biotechniques , vol.13 , pp. 522-524
    • Lewin, H.A.1    Stewart-Haynes, J.A.2
  • 19
    • 51149087652 scopus 로고    scopus 로고
    • Mitochondrial gene mutations and type 2 diabetes in Chinese families
    • Li M.Z., Yu D.M., Yu P., Liu D.M., Wang K., and Tang X.Z. Mitochondrial gene mutations and type 2 diabetes in Chinese families. Chinese Medical Journal 121 (2008) 682-686
    • (2008) Chinese Medical Journal , vol.121 , pp. 682-686
    • Li, M.Z.1    Yu, D.M.2    Yu, P.3    Liu, D.M.4    Wang, K.5    Tang, X.Z.6
  • 21
    • 74249088976 scopus 로고    scopus 로고
    • Pro12Ala polymorphism in the PPARG gene contributes to the development of diabetic nephropathy in Chinese type 2 diabetes
    • 10.2337/dc09-1258
    • Liu L., Zheng T., Wang F., Wang N., Song Y., Li M., Li L., Jiang J., and Zhao W. Pro12Ala polymorphism in the PPARG gene contributes to the development of diabetic nephropathy in Chinese type 2 diabetes. Diabetes Care (2009) 10.2337/dc09-1258
    • (2009) Diabetes Care
    • Liu, L.1    Zheng, T.2    Wang, F.3    Wang, N.4    Song, Y.5    Li, M.6    Li, L.7    Jiang, J.8    Zhao, W.9
  • 29
    • 67650681864 scopus 로고    scopus 로고
    • Tumour necrosis factor-alpha attenuates insulin action on phosphoenolpyruvate carboxykinase gene expression and gluconeogenesis by altering the cellular localization of Foxa2 in HepG2 cells
    • Pandey A.K., Bhardwaj V., and Datta M. Tumour necrosis factor-alpha attenuates insulin action on phosphoenolpyruvate carboxykinase gene expression and gluconeogenesis by altering the cellular localization of Foxa2 in HepG2 cells. FEBS Journal 276 (2009) 3757-3769
    • (2009) FEBS Journal , vol.276 , pp. 3757-3769
    • Pandey, A.K.1    Bhardwaj, V.2    Datta, M.3
  • 31
    • 0037417764 scopus 로고    scopus 로고
    • Leu(UUR) decreases the efficiency of aminoacylation
    • Leu(UUR) decreases the efficiency of aminoacylation. Biochemistry 42 (2003) 958-964
    • (2003) Biochemistry , vol.42 , pp. 958-964
    • Park, H.1    Davidson, E.2    King, M.P.3
  • 33
    • 0032519307 scopus 로고    scopus 로고
    • Automating the identification of DNA variations using quality-based fluorescence re-sequencing: analysis of the human mitochondrial genome
    • Rieder M.J., Taylor S.L., and Tobe V.O. Automating the identification of DNA variations using quality-based fluorescence re-sequencing: analysis of the human mitochondrial genome. Nucleic Acids Research 26 (1998) 967-973
    • (1998) Nucleic Acids Research , vol.26 , pp. 967-973
    • Rieder, M.J.1    Taylor, S.L.2    Tobe, V.O.3
  • 34
    • 0034955834 scopus 로고    scopus 로고
    • Association of the T14709C mutation of mitochondrial DNA with maternally inherited diabetes mellitus and/or deafness in an Italian family
    • Rigoli L., Prisco F., Caruso R.A., Iafusco D., Ursomanno G., Zuccarello D., Ingenito N., Rigoli M., and Barberi I. Association of the T14709C mutation of mitochondrial DNA with maternally inherited diabetes mellitus and/or deafness in an Italian family. Diabetic Medicine 18 (2001) 334-336
    • (2001) Diabetic Medicine , vol.18 , pp. 334-336
    • Rigoli, L.1    Prisco, F.2    Caruso, R.A.3    Iafusco, D.4    Ursomanno, G.5    Zuccarello, D.6    Ingenito, N.7    Rigoli, M.8    Barberi, I.9


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.