메뉴 건너뛰기




Volumn 100, Issue 5-6, 1997, Pages 643-650

Detection and characterization of mitochondrial DNA rearrangements in Pearson and Kearns-Sayre syndromes by long PCR

Author keywords

[No Author keywords available]

Indexed keywords

MITOCHONDRIAL DNA; PRIMER DNA;

EID: 0031429058     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050567     Document Type: Article
Times cited : (47)

References (34)
  • 6
    • 0028334711 scopus 로고
    • Complete mitochondrial genome amplification
    • Cheng S, Higuchi R, Stoneking M (1994) Complete mitochondrial genome amplification. Nat Genet 7:350-351
    • (1994) Nat Genet , vol.7 , pp. 350-351
    • Cheng, S.1    Higuchi, R.2    Stoneking, M.3
  • 9
    • 0025674177 scopus 로고
    • Detection of a specific mitochondrial DNA deletion in tissues of older humans
    • Cortopassi GA, Arnheim N (1990) Detection of a specific mitochondrial DNA deletion in tissues of older humans. Nucleic Acids Res 18:6927-6933
    • (1990) Nucleic Acids Res , vol.18 , pp. 6927-6933
    • Cortopassi, G.A.1    Arnheim, N.2
  • 10
    • 0028227231 scopus 로고
    • Deletion screening of mitochondrial DNA via multiprimer DNA amplification
    • Ernst BP, Wilichowski E, Wagner M, Hanefeld F (1994) Deletion screening of mitochondrial DNA via multiprimer DNA amplification. Mol Cell Probes 8:45-49
    • (1994) Mol Cell Probes , vol.8 , pp. 45-49
    • Ernst, B.P.1    Wilichowski, E.2    Wagner, M.3    Hanefeld, F.4
  • 12
    • 0030579939 scopus 로고    scopus 로고
    • Efficient amplification of identified partial duplications of human mitochondrial DNA by long PCR
    • Fromenty B, Manfredi G, Sadlock J, Zhang L, King MP, Schon EA (1996) Efficient amplification of identified partial duplications of human mitochondrial DNA by long PCR. Biochim Biophys Acta 1308:222-230
    • (1996) Biochim Biophys Acta , vol.1308 , pp. 222-230
    • Fromenty, B.1    Manfredi, G.2    Sadlock, J.3    Zhang, L.4    King, M.P.5    Schon, E.A.6
  • 13
    • 0023019723 scopus 로고
    • Both the conserved stem-loop and divergent 5′-flanking sequences are required for initiation at the human mitochondrial origin of light-strand DNA replication
    • Hixson JE, Wong TW, Clayton DA (1986) Both the conserved stem-loop and divergent 5′-flanking sequences are required for initiation at the human mitochondrial origin of light-strand DNA replication. J Biol Chem 261:2384-2390
    • (1986) J Biol Chem , vol.261 , pp. 2384-2390
    • Hixson, J.E.1    Wong, T.W.2    Clayton, D.A.3
  • 14
    • 0023883150 scopus 로고
    • Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies
    • Holt IJ, Harding AE, Morgan-Hughes JA (1988) Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies. Nature 331:717-719
    • (1988) Nature , vol.331 , pp. 717-719
    • Holt, I.J.1    Harding, A.E.2    Morgan-Hughes, J.A.3
  • 16
    • 0028352198 scopus 로고
    • Widespread distribution of multiple mitochondrial DNA deletions in familial mitochondrial myopathy
    • Kawashima S, Ohta S, Kagawa Y, Yoshida M, Nishizawa M (1994) Widespread distribution of multiple mitochondrial DNA deletions in familial mitochondrial myopathy. Muscle Nerve 17: 741-746
    • (1994) Muscle Nerve , vol.17 , pp. 741-746
    • Kawashima, S.1    Ohta, S.2    Kagawa, Y.3    Yoshida, M.4    Nishizawa, M.5
  • 17
    • 0027948258 scopus 로고
    • Development and evaluation of a spectrophotometric assay for complexIII in isolated mitochondria, tissues and fibroblasts from rats and humans
    • Krähenbühl S, Talos C, Wiesmann U, Hoppel CL (1994) Development and evaluation of a spectrophotometric assay for complexIII in isolated mitochondria, tissues and fibroblasts from rats and humans. Clin Chim Acta 230:177-187
    • (1994) Clin Chim Acta , vol.230 , pp. 177-187
    • Krähenbühl, S.1    Talos, C.2    Wiesmann, U.3    Hoppel, C.L.4
  • 18
    • 0030607139 scopus 로고    scopus 로고
    • Determination of the activities of the enzyme complexes of the electron transport chain in human fibroblasts
    • Krähenbühl S, Schäfer T, Wiesmann U (1996) Determination of the activities of the enzyme complexes of the electron transport chain in human fibroblasts. Clin Chim Acta 253:79-80
    • (1996) Clin Chim Acta , vol.253 , pp. 79-80
    • Krähenbühl, S.1    Schäfer, T.2    Wiesmann, U.3
  • 19
    • 0029072026 scopus 로고
    • Whole mitochondrial genome amplification reveals basal level multiple deletions in mtDNA of patients with dilated cardiomyopathy
    • Li Y-Y, Hengstenberg C, Maisch B (1995) Whole mitochondrial genome amplification reveals basal level multiple deletions in mtDNA of patients with dilated cardiomyopathy. Biochem Biophys Res Commun 210:211-218
    • (1995) Biochem Biophys Res Commun , vol.210 , pp. 211-218
    • Li, Y.-Y.1    Hengstenberg, C.2    Maisch, B.3
  • 20
    • 0026548217 scopus 로고
    • Quantitation of a mitochondrial DNA deletion in Parkinson's disease
    • Mann VM, Cooper JM, Schapira AHV (1992) Quantitation of a mitochondrial DNA deletion in Parkinson's disease. FEBSLett 299:218-222
    • (1992) FEBSLett , vol.299 , pp. 218-222
    • Mann, V.M.1    Cooper, J.M.2    Schapira, A.H.V.3
  • 21
    • 0026409821 scopus 로고
    • Normal variants of human mitochondrial DNA and translation products: The building of a reference data base
    • Marzuki S, Noer AS, Letrit P, Thyagarajan D, Kapsa R, Utthanaphol P, Byrne E (1991) Normal variants of human mitochondrial DNA and translation products: the building of a reference data base. Hum Genet 88:139-145
    • (1991) Hum Genet , vol.88 , pp. 139-145
    • Marzuki, S.1    Noer, A.S.2    Letrit, P.3    Thyagarajan, D.4    Kapsa, R.5    Utthanaphol, P.6    Byrne, E.7
  • 22
    • 0028787717 scopus 로고
    • Marked increase in the number and variety of mitochondrial DNA rearrangements in aging human skeletal muscle
    • Melov S, Shoffner JM, Kaufman A, Wallace DC (1995) Marked increase in the number and variety of mitochondrial DNA rearrangements in aging human skeletal muscle. Nucleic Acids Res 23:4122-4126
    • (1995) Nucleic Acids Res , vol.23 , pp. 4122-4126
    • Melov, S.1    Shoffner, J.M.2    Kaufman, A.3    Wallace, D.C.4
  • 24
    • 3042578438 scopus 로고    scopus 로고
    • OMIM (TM). Johns Hopkins University, Baltimore, Md. World Wide Web
    • OMIM: online Mendelian inheritance in man, OMIM (TM). Johns Hopkins University, Baltimore, Md. World Wide Web URL: http://www3.ncbi.nlm.nih.gov/omim/
    • OMIM: Online Mendelian Inheritance in Man
  • 25
    • 0025004427 scopus 로고
    • Multiple mitochondrial DNA deletions exist in cardiomyocytes of patients with hypertrophic or dilated cardiomyopathy
    • Ozawa T, Tanaka M, Sugiyama S, Hattori K, Ito T, Ohno K, Takahashi A, et al (1990) Multiple mitochondrial DNA deletions exist in cardiomyocytes of patients with hypertrophic or dilated cardiomyopathy. Biochem Biophys Res Commun 170:830-836
    • (1990) Biochem Biophys Res Commun , vol.170 , pp. 830-836
    • Ozawa, T.1    Tanaka, M.2    Sugiyama, S.3    Hattori, K.4    Ito, T.5    Ohno, K.6    Takahashi, A.7
  • 26
    • 0027403570 scopus 로고
    • Families of mt DNA re-arrangements can be detected in patients with mt DNA deletions: Duplications may be a transient intermediate form
    • Poulton J, Deadman ME, Bindoff L, Morten K, Land J, Brown G (1993) Families of mt DNA re-arrangements can be detected in patients with mt DNA deletions: duplications may be a transient intermediate form. Hum Mol Genet 2:23-30
    • (1993) Hum Mol Genet , vol.2 , pp. 23-30
    • Poulton, J.1    Deadman, M.E.2    Bindoff, L.3    Morten, K.4    Land, J.5    Brown, G.6
  • 27
    • 0028286575 scopus 로고
    • Are duplications of mitochondrial DNA characteristic of Kearns-Sayre syndrome?
    • Poulton J, Morten KJ, Weber K, Brown G, Bindoff L (1994) Are duplications of mitochondrial DNA characteristic of Kearns-Sayre syndrome? Hum Mol Genet 3:947-951
    • (1994) Hum Mol Genet , vol.3 , pp. 947-951
    • Poulton, J.1    Morten, K.J.2    Weber, K.3    Brown, G.4    Bindoff, L.5
  • 29
    • 0029559598 scopus 로고
    • Accumulation of deletions in mt DNA during tissue aging: Analysis by long PCR
    • Reynier P, Malthiery Y (1995) Accumulation of deletions in mt DNA during tissue aging: analysis by long PCR. Biochem Biophys Res Commun 217:59-67
    • (1995) Biochem Biophys Res Commun , vol.217 , pp. 59-67
    • Reynier, P.1    Malthiery, Y.2
  • 31
    • 0029147133 scopus 로고
    • Spectrum of mitochondrial DNA rearrangements in the Pearson marrow-pancreas syndrome
    • Rötig A, Bourgeron T, Chretien D, Rustin P, Munnich A (1995) Spectrum of mitochondrial DNA rearrangements in the Pearson marrow-pancreas syndrome. Hum Mol Genet 4:1327-1330
    • (1995) Hum Mol Genet , vol.4 , pp. 1327-1330
    • Rötig, A.1    Bourgeron, T.2    Chretien, D.3    Rustin, P.4    Munnich, A.5
  • 32
    • 0027310104 scopus 로고
    • Pearson bone marrow-pancreas syndrome with insulin-dependent diabetes, progressive renal tubulopathy, organic aciduria and elevated fetal hemoglobin caused by deletion and duplication of mitochondrial DNA
    • Superti-Furga A, Schoenle E, Tuchschmid P, Caduff C, Sabato V, De Mattia D, Gitzelmann R, Steinmann B (1993) Pearson bone marrow-pancreas syndrome with insulin-dependent diabetes, progressive renal tubulopathy, organic aciduria and elevated fetal hemoglobin caused by deletion and duplication of mitochondrial DNA. Eur J Pediatr 152:44-50
    • (1993) Eur J Pediatr , vol.152 , pp. 44-50
    • Superti-Furga, A.1    Schoenle, E.2    Tuchschmid, P.3    Caduff, C.4    Sabato, V.5    De Mattia, D.6    Gitzelmann, R.7    Steinmann, B.8
  • 34
    • 0026624980 scopus 로고
    • Diseases of the mitochondrial DNA
    • Wallace DC (1992) Diseases of the mitochondrial DNA. Annu Rev Biochem 61:1175-1212
    • (1992) Annu Rev Biochem , vol.61 , pp. 1175-1212
    • Wallace, D.C.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.