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Volumn 114, Issue 4, 2006, Pages 168-174

Novel mitochondrial DNA length variants and genetic instability in a family with diabetes and deafness

Author keywords

Heteroplasmy; Length variants; MIDD; Mitochondrial disease; Mitochondrial DNA

Indexed keywords

MITOCHONDRIAL DNA; TRANSFER RNA;

EID: 33744922923     PISSN: 09477349     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-2006-924066     Document Type: Article
Times cited : (8)

References (33)
  • 3
    • 0029017083 scopus 로고
    • Length heteroplasmy in the first hypervariable segment of the human mtDNA control region
    • Bendall KE, Sykes BC. Length heteroplasmy in the first hypervariable segment of the human mtDNA control region. Am J Hum Genet 1995; 57: 248-256
    • (1995) Am J Hum Genet , vol.57 , pp. 248-256
    • Bendall, K.E.1    Sykes, B.C.2
  • 9
    • 21244496460 scopus 로고    scopus 로고
    • Heteroplasmic mitochondrial DNA 3310 mutation in the ND1 gene in a patient with type 2 diabetes, hypertrophic cardiomyopathy, and mental retardation
    • Hattori Y, Takeoka M, Nakajima K, Ehara T, Koyama MA. Heteroplasmic mitochondrial DNA 3310 mutation in the ND1 gene in a patient with type 2 diabetes, hypertrophic cardiomyopathy, and mental retardation. Exp Clin Endocrinol Diabetes 2005; 113: 318-323
    • (2005) Exp Clin Endocrinol Diabetes , vol.113 , pp. 318-323
    • Hattori, Y.1    Takeoka, M.2    Nakajima, K.3    Ehara, T.4    Koyama, M.A.5
  • 10
    • 0034121640 scopus 로고    scopus 로고
    • No sex please, we're mitochondria: A hypothesis on the somatic unit of inheritance of mammalian mtDNA
    • Jacobs HT, Lehtinen SK, Spelbrink JN. No sex please, we're mitochondria: a hypothesis on the somatic unit of inheritance of mammalian mtDNA. Bioassays 2000; 22: 564-572
    • (2000) Bioassays , vol.22 , pp. 564-572
    • Jacobs, H.T.1    Lehtinen, S.K.2    Spelbrink, J.N.3
  • 12
    • 0024448458 scopus 로고
    • Human cells lacking mtDNA: Repopulation with exogenous mitochondria by complementation
    • King MP, Attardi G. Human cells lacking mtDNA: repopulation with exogenous mitochondria by complementation. Science 1989; 246: 500-503
    • (1989) Science , vol.246 , pp. 500-503
    • King, M.P.1    Attardi, G.2
  • 13
    • 0023256559 scopus 로고
    • Slipped-strand mispairing: A major mechanism for DNA sequence evolution
    • Levinson G, Gutman GA. Slipped-strand mispairing: a major mechanism for DNA sequence evolution. Mol Biol Evol 1987; 4: 203-221
    • (1987) Mol Biol Evol , vol.4 , pp. 203-221
    • Levinson, G.1    Gutman, G.A.2
  • 14
    • 0029914927 scopus 로고    scopus 로고
    • Maternally inherited diabetes and deafness: A new diabetes subtype
    • Maassen JA, Kadowaki T. Maternally inherited diabetes and deafness: a new diabetes subtype. Diabetologia 1996; 39: 375-382
    • (1996) Diabetologia , vol.39 , pp. 375-382
    • Maassen, J.A.1    Kadowaki, T.2
  • 17
    • 20344378241 scopus 로고    scopus 로고
    • Molecular mechanisms of mitochondrial diabetes (MIDD)
    • Maassen JA, Janssen GMC, 't Hart LM. Molecular mechanisms of mitochondrial diabetes (MIDD). Ann Med 2005; 37: 213-221
    • (2005) Ann Med , vol.37 , pp. 213-221
    • Maassen, J.A.1    Janssen, G.M.C.2    'T Hart, L.M.3
  • 18
    • 0029881588 scopus 로고    scopus 로고
    • Do sequence variants in the major non-coding region of the mitochondrial genome influence mitochondrial mutations associated with disease?
    • Marchington DR, Poulton J, Sellar A, Holt IJ. Do sequence variants in the major non-coding region of the mitochondrial genome influence mitochondrial mutations associated with disease? Hum Molec Genet 1996; 5: 473-479
    • (1996) Hum Molec Genet , vol.5 , pp. 473-479
    • Marchington, D.R.1    Poulton, J.2    Sellar, A.3    Holt, I.J.4
  • 19
    • 0033595684 scopus 로고    scopus 로고
    • Aging-dependent large accumulation of point mutations in the human mtDNA control region for replication
    • Michikawa Y, Mazzucchelli F, Bresolin N, Scarlato G, Attardi G. Aging-dependent large accumulation of point mutations in the human mtDNA control region for replication. Science 1999; 286: 774-779
    • (1999) Science , vol.286 , pp. 774-779
    • Michikawa, Y.1    Mazzucchelli, F.2    Bresolin, N.3    Scarlato, G.4    Attardi, G.5
  • 20
    • 15644370476 scopus 로고    scopus 로고
    • A common mitochondrial DNA variant is associated with insulin resistance in adult life
    • Poulton J, Brown MS, Cooper A, Marchington DR, Phillips DIW. A common mitochondrial DNA variant is associated with insulin resistance in adult life. Diabetologia 1998; 41: 54-58
    • (1998) Diabetologia , vol.41 , pp. 54-58
    • Poulton, J.1    Brown, M.S.2    Cooper, A.3    Marchington, D.R.4    Phillips, D.I.W.5
  • 21
    • 0037096760 scopus 로고    scopus 로고
    • Type 2 diabetes is associated with a common mitochondrial variant: Evidence from a population-based case-control study
    • Poulton J, Luan J, Macaulay V, Hennings S, Mitchell J, Wareham NJ. Type 2 diabetes is associated with a common mitochondrial variant: evidence from a population-based case-control study. Hum Molec Genet 2002; 11: 1581-1583
    • (2002) Hum Molec Genet , vol.11 , pp. 1581-1583
    • Poulton, J.1    Luan, J.2    Macaulay, V.3    Hennings, S.4    Mitchell, J.5    Wareham, N.J.6
  • 22
    • 0031985058 scopus 로고    scopus 로고
    • Exhaustive scanning approach to screen all the mitochondrial tRNA genes for mutations and its application to the investigation of 35 independent patients with mitochondrial disorders
    • Sternberg D, Danan C, Lombes A, Laforet P, Girodon E, Goossens M, Amselem S. Exhaustive scanning approach to screen all the mitochondrial tRNA genes for mutations and its application to the investigation of 35 independent patients with mitochondrial disorders. Hum Mol Genet 1998; 7: 33-42
    • (1998) Hum Mol Genet , vol.7 , pp. 33-42
    • Sternberg, D.1    Danan, C.2    Lombes, A.3    Laforet, P.4    Girodon, E.5    Goossens, M.6    Amselem, S.7
  • 23
    • 0035992825 scopus 로고    scopus 로고
    • Different genes, different diabetes: Lessons from maturity-onset diabetes of the young
    • Stride A, Hattersley AT. Different genes, different diabetes: lessons from maturity-onset diabetes of the young. Ann Med 2002; 34: 207-216
    • (2002) Ann Med , vol.34 , pp. 207-216
    • Stride, A.1    Hattersley, A.T.2
  • 24
  • 25
    • 0031938224 scopus 로고    scopus 로고
    • New mitochondrial DNA homoplasmic mutations associated with Japanese patients with type 2 diabetes
    • Tawata M, Ohtaka M, Iwase E, Ikegishi Y, Aida K, Onaya T. New mitochondrial DNA homoplasmic mutations associated with Japanese patients with type 2 diabetes. Diabetes 1998; 47: 276-277
    • (1998) Diabetes , vol.47 , pp. 276-277
    • Tawata, M.1    Ohtaka, M.2    Iwase, E.3    Ikegishi, Y.4    Aida, K.5    Onaya, T.6
  • 27
    • 0032578022 scopus 로고    scopus 로고
    • Lys intergenic region of the human mitochondrial genome: Multiple origins of the 9-bp deletion and heteroplasmy for expanded repeats
    • Lys intergenic region of the human mitochondrial genome: multiple origins of the 9-bp deletion and heteroplasmy for expanded repeats. Phil Trans R Soc Lond 1997; 353: 955-965
    • (1997) Phil Trans R Soc Lond , vol.353 , pp. 955-965
    • Thomas, M.G.1    Cook, C.E.2    Miller, K.W.P.3    Waring, M.J.4    Hagelberg, E.5
  • 28
    • 0028095263 scopus 로고
    • mtDNA and the origin of caucasians: Identification of ancient caucasian-specific haplogroups, one of which is prone to a recurrent somatic duplication in the D-loop region
    • Torroni A, Lott MT, Cabell MF, Chen YS, Lavergne L, Wallace DC. mtDNA and the origin of caucasians: identification of ancient caucasian-specific haplogroups, one of which is prone to a recurrent somatic duplication in the D-loop region. Am J Hum Genet 1994; 55: 760-776
    • (1994) Am J Hum Genet , vol.55 , pp. 760-776
    • Torroni, A.1    Lott, M.T.2    Cabell, M.F.3    Chen, Y.S.4    Lavergne, L.5    Wallace, D.C.6
  • 31
    • 0033525773 scopus 로고    scopus 로고
    • Mitochondrial diseases in man and mouse
    • Wallace DC. Mitochondrial diseases in man and mouse. Science 1999; 283: 1482-1488
    • (1999) Science , vol.283 , pp. 1482-1488
    • Wallace, D.C.1
  • 32
    • 0032858458 scopus 로고    scopus 로고
    • A novel system for assigning the mode of inheritance in mitochondrial disorders using cybrids and rhodamine 6G
    • Williams AJ, Murrell M, Brammah S, Minchenko J, Christodoulou J. A novel system for assigning the mode of inheritance in mitochondrial disorders using cybrids and rhodamine 6G. Hum Molec Genet 1999; 8: 1691-1697
    • (1999) Hum Molec Genet , vol.8 , pp. 1691-1697
    • Williams, A.J.1    Murrell, M.2    Brammah, S.3    Minchenko, J.4    Christodoulou, J.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.