메뉴 건너뛰기




Volumn 2, Issue 1, 2009, Pages 69-72

Comparison of mitochondrial A3243G mutation loads in easily accessible samples from a family with maternally inherited diabetes and deafness

Author keywords

A3243G; Heteroplasmy; Maternally inherited diabetes and deafness; MELAS; Mutation load

Indexed keywords

MITOCHONDRIAL DNA;

EID: 69249113821     PISSN: 17912997     EISSN: 17913004     Source Type: Journal    
DOI: 10.3892/mmr-00000063     Document Type: Article
Times cited : (6)

References (12)
  • 1
    • 0025666322 scopus 로고
    • Leu(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies
    • Goto Y, Nonaka I and Horai S: A mutation in the tRNA(Leu) (UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies. Nature 348: 651-653, 1990. (Pubitemid 120015131)
    • (1990) Nature , vol.348 , Issue.6302 , pp. 651-653
    • Goto, Y.-I.1    Nonaka, I.2    Horai, S.3
  • 2
    • 34250833548 scopus 로고    scopus 로고
    • Genetic, pathogenetic and phenotypic implications of the mitochondrial A3243G tRNALeu(UUR) mutation
    • Finsterer J: Genetic, pathogenetic and phenotypic implications of the mitochondrial A3243G tRNALeu(UUR) mutation. Acta Neurol Scand 116: 1-14, 2007.
    • (2007) Acta Neurol Scand , vol.116 , pp. 1-14
    • Finsterer, J.1
  • 4
    • 0034030344 scopus 로고    scopus 로고
    • Heterogeneous presentation in A3243G mutation in the mitochondrial tRNA(Leu(UUR)) gene
    • DOI 10.1136/adc.82.5.407
    • Koga Y, Akita Y, Takane N, Sato Y and Kato H: Heterogeneous presentation in A3243G mutation in the mitochondrial tRNA(Leu(UUR)) gene. Arch Dis Child 82: 407-411, 2000. (Pubitemid 30307773)
    • (2000) Archives of Disease in Childhood , vol.82 , Issue.5 , pp. 407-411
    • Koga, Y.1    Akita, Y.2    Takane, N.3    Sato, Y.4    Kato, H.5
  • 5
    • 0035143020 scopus 로고    scopus 로고
    • Inter- And/or intra-organ distribution of mitochondrial C3303T or A3243G mutation in mitochondrial cytopathy
    • Iwanaga R, Koga Y, Aramaki S, Kato S and Kato H: Inter- and/or intra-organ distribution of mitochondrial C3303T or A3243G mutation in mitochondrial cytopathy. Acta Neuropathol 101: 179-184, 2001. (Pubitemid 32124491)
    • (2001) Acta Neuropathologica , vol.101 , Issue.2 , pp. 179-184
    • Iwanaga, R.1    Koga, Y.2    Aramaki, S.3    Kato, S.4    Kato, H.5
  • 6
    • 0031745480 scopus 로고    scopus 로고
    • Level of heteroplasmy for the mitochondrial mutation A3243G correlates with age at onset of diabetes and deafness
    • DOI 10.1002/(SICI)1098-1004(1998)12:1<52::AID-HUMU8>3.0.CO;2-K
    • Olsson C, Zethelius B, Lagerström-Fermér M, Asplund J, Berne C and Landegren U: Level of heteroplasmy for the mitochondrial mutation A3243G correlates with age at onset of diabetes and deafness. Hum Mutat 12: 52-58, 1998. (Pubitemid 28262225)
    • (1998) Human Mutation , vol.12 , Issue.1 , pp. 52-58
    • Olsson, C.1    Zethelius, B.2    Lagerstrom-Fermer, M.3    Asplund, J.4    Berne, C.5    Landegren, U.6
  • 8
    • 0034746790 scopus 로고    scopus 로고
    • Decrease of 3243 A→G mtDNA mutation from blood in MELAS syndrome: A longitudinal study
    • DOI 10.1086/316930
    • Rahman S, Poulton J, Marchington D and Suomalainen A: Decrease of 3243 A→G mtDNA mutation from blood in MELAS syndrome: a longitudinal study. Am J Hum Genet 68: 238-240, 2001. (Pubitemid 32048380)
    • (2001) American Journal of Human Genetics , vol.68 , Issue.1 , pp. 238-240
    • Rahman, S.1    Poulton, J.2    Marchington, D.3    Suomalainen, A.4
  • 9
    • 0033989668 scopus 로고    scopus 로고
    • Longitudinal analysis of the segregation of mtDNA mutations in heteroplasmic individuals
    • DOI 10.1016/S0022-510X(99)00207-5, PII S0022510X99002075
    • Howell N, Ghosh SS, Fahy E and Bindoff LA: Longitudinal analysis of the segregation of mtDNA mutations in heteroplasmic individuals. J Neurol Sci 172: 1-6, 2000. (Pubitemid 30006973)
    • (2000) Journal of the Neurological Sciences , vol.172 , Issue.1 , pp. 1-6
    • Howell, N.1    Ghosh, S.S.2    Fahy, E.3    Bindoff, L.A.4
  • 10
    • 0035710879 scopus 로고    scopus 로고
    • The level of the mitochondrial mutation A3243G decreases upon ageing in epithelial cells from individuals with diabetes and deafness
    • DOI 10.1038/sj.ejhg.5200742
    • Olsson C, Johnsen E, Nilsson M, Wilander E, Syvänen AC and Lagerström-Fermér M: The level of the mitochondrial mutation A3243G decreases upon ageing in epithelial cells from individuals with diabetes and deafness. Eur J Hum Genet 9: 917-921, 2001. (Pubitemid 34145110)
    • (2001) European Journal of Human Genetics , vol.9 , Issue.12 , pp. 917-921
    • Olsson, C.1    Johnsen, E.2    Nilsson, M.3    Wilander, E.4    Syvanen, A.-C.5    Lagerstrom-Fermer, M.6
  • 11
    • 0029960177 scopus 로고    scopus 로고
    • Heteroplasmy levels of a mitochondrial gene mutation associated with diabetes mellitus decrease in leucocyte DNA upon aging
    • 't Hart LM, Jansen JJ, Lemkes HH, De Knijff P and Maassen JA: Heteroplasmy levels of a mitochondrial gene mutation associated with diabetes mellitus decrease in leucocyte DNA upon aging. Hum Mutat 7: 193-197, 1996.
    • (1996) Hum Mutat , vol.7 , pp. 193-197
    • 'T Hart, L.M.1    Jansen, J.J.2    Lemkes, H.H.3    De Knijff, P.4    Maassen, J.A.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.