메뉴 건너뛰기




Volumn 41, Issue 4, 2004, Pages 179-184

A pilot study of mitochondrial DNA point mutation A3243G in a sample of Croatian patients having type 2 diabetes mellitus associated with maternal inheritance

Author keywords

Diabetes type 2; MELAS syndrome; Mitochondrial DNA; Mutation A3243G

Indexed keywords

MITOCHONDRIAL DNA;

EID: 12944322636     PISSN: 09405429     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00592-004-0163-x     Document Type: Article
Times cited : (7)

References (28)
  • 3
    • 0032788739 scopus 로고    scopus 로고
    • Mitochondrial DNA and disease
    • Chinnery PF, Turnbull DM (1999) Mitochondrial DNA and disease. Lancet 354:17-21
    • (1999) Lancet , vol.354 , pp. 17-21
    • Chinnery, P.F.1    Turnbull, D.M.2
  • 5
    • 0029971235 scopus 로고    scopus 로고
    • The expanding clinical phenotype of the tRNA Leu(UUR) A→G mutation at np 3243 mitochondrial DNA: Diabetic embryopathy associated with mitochondrial cytopathy
    • Feingebaum A, Chitayat D, Robinson B, MacGregor D, Myint T, Arbus G, Nowaczyk MJM (1996) The expanding clinical phenotype of the tRNA Leu(UUR) A→G mutation at np 3243 mitochondrial DNA: diabetic embryopathy associated with mitochondrial cytopathy. Am J Med Genet 62:404-409
    • (1996) Am J Med Genet , vol.62 , pp. 404-409
    • Feingebaum, A.1    Chitayat, D.2    Robinson, B.3    MacGregor, D.4    Myint, T.5    Arbus, G.6    Nowaczyk, M.J.M.7
  • 6
    • 0029914927 scopus 로고    scopus 로고
    • Maternally inherited diabetes and deafness: A new diabetes subtype
    • Maassen JA, Kadowaki T (1996) Maternally inherited diabetes and deafness: a new diabetes subtype. Diabetologia 39:375-382
    • (1996) Diabetologia , vol.39 , pp. 375-382
    • Maassen, J.A.1    Kadowaki, T.2
  • 7
    • 0030936708 scopus 로고    scopus 로고
    • Maternally inherited diabetes and deafness: A diabetic subtype associated with a mutation in mitochondrial DNA
    • Maassen JA, van den Ouweland JMW, t'Hart LM, Lemkes HHPJ (1997) Maternally inherited diabetes and deafness: a diabetic subtype associated with a mutation in mitochondrial DNA. Horm Metab Res 29:50-55
    • (1997) Horm Metab Res , vol.29 , pp. 50-55
    • Maassen, J.A.1    Van Den Ouweland, J.M.W.2    T'Hart, L.M.3    Lemkes, H.H.P.J.4
  • 9
    • 0028365102 scopus 로고
    • Maternally inherited diabetes and deafness is a distinct subtype of diabetes and associates with a single point mutation in the mitochondrial tRNA(Leu(UUR))gene
    • van den Ouweland JM, Lemkes HH, Trembath RC, Ross R, Velho G, Cohen D, Froguel P, Maassen JA (1994) Maternally inherited diabetes and deafness is a distinct subtype of diabetes and associates with a single point mutation in the mitochondrial tRNA(Leu(UUR))gene. Diabetes 43:746-751
    • (1994) Diabetes , vol.43 , pp. 746-751
    • Van Den Ouweland, J.M.1    Lemkes, H.H.2    Trembath, R.C.3    Ross, R.4    Velho, G.5    Cohen, D.6    Froguel, P.7    Maassen, J.A.8
  • 12
    • 0031958231 scopus 로고    scopus 로고
    • Mitochondrial genetics and hearing loss: The missing link between genotype and phenotype, minireview
    • Fischel-Ghodsian N (1998) Mitochondrial genetics and hearing loss: the missing link between genotype and phenotype, minireview. Proc Soc Exp Biol Med 218:1-6
    • (1998) Proc Soc Exp Biol Med , vol.218 , pp. 1-6
    • Fischel-Ghodsian, N.1
  • 13
    • 0032429843 scopus 로고    scopus 로고
    • Decreased mitochondrial DNA content in peripheral blood precedes the development of non-insulin-dependent diabetes mellitus
    • Lee HK, Song JH, Shin CS, Park DJ, Park KS, Lee KU, Koh CS (1998) Decreased mitochondrial DNA content in peripheral blood precedes the development of non-insulin-dependent diabetes mellitus. Diabetes Res Clin Pract 42:161-167
    • (1998) Diabetes Res Clin Pract , vol.42 , pp. 161-167
    • Lee, H.K.1    Song, J.H.2    Shin, C.S.3    Park, D.J.4    Park, K.S.5    Lee, K.U.6    Koh, C.S.7
  • 14
    • 0033935242 scopus 로고    scopus 로고
    • A new mitochondrial DNA mutation at 14577 T/C is probably a major pathogenic mutation for maternally inherited type 2 diabetes
    • Tawata M, Hayashi JI, Isobe K, Ohkubo E, Ohtaka M, Chen J, Aida K, Onaya T (2000) A new mitochondrial DNA mutation at 14577 T/C is probably a major pathogenic mutation for maternally inherited type 2 diabetes. Diabetes 49:1269-1272
    • (2000) Diabetes , vol.49 , pp. 1269-1272
    • Tawata, M.1    Hayashi, J.I.2    Isobe, K.3    Ohkubo, E.4    Ohtaka, M.5    Chen, J.6    Aida, K.7    Onaya, T.8
  • 16
    • 0024284028 scopus 로고
    • A simple salting out procedure for extracting DNA from human nucleated cells
    • Miller SA, Dykes DD, Polesky HF (1988) A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acid Res 16:1215
    • (1988) Nucleic Acid Res , vol.16 , pp. 1215
    • Miller, S.A.1    Dykes, D.D.2    Polesky, H.F.3
  • 20
    • 0003072603 scopus 로고
    • Determination of glucose in blood using glucose oxidase with an alternative oxygen receptor
    • Trinder P (1969) Determination of glucose in blood using glucose oxidase with an alternative oxygen receptor. Ann Clin Biochem 6:24-27
    • (1969) Ann Clin Biochem , vol.6 , pp. 24-27
    • Trinder, P.1
  • 23
    • 0019198111 scopus 로고
    • Effect of time, temperature and freezing on the stability of immunoreactive LH, FSH, TSH, growth hormone, prolactin and insulin in plasma
    • Livesey JH, Hodgkinson SC, Roud HR, Donald RA (1980) Effect of time, temperature and freezing on the stability of immunoreactive LH, FSH, TSH, growth hormone, prolactin and insulin in plasma. Clin Biochem 13:151-155
    • (1980) Clin Biochem , vol.13 , pp. 151-155
    • Livesey, J.H.1    Hodgkinson, S.C.2    Roud, H.R.3    Donald, R.A.4
  • 24
    • 0020743754 scopus 로고
    • The expanding clinical use of C-peptide radioimmunoassay, review
    • Rendell M (1983) The expanding clinical use of C-peptide radioimmunoassay, review. Acta Diabetol Lat 20:105-113
    • (1983) Acta Diabetol Lat , vol.20 , pp. 105-113
    • Rendell, M.1
  • 26
    • 12944312911 scopus 로고
    • Six methods for detemination urinary protein compared
    • Dilena BA, Penberthy LA, Fraser GG (1983) Six methods for detemination urinary protein compared. Clin Chem 29:1533-1557
    • (1983) Clin Chem , vol.29 , pp. 1533-1557
    • Dilena, B.A.1    Penberthy, L.A.2    Fraser, G.G.3
  • 27
    • 0033014171 scopus 로고    scopus 로고
    • Lack of association between mitochondrial DNA mutation np 3243 and maternally inherited diabetes mellitus
    • Zambelli A, Vidal-Rioja L (1999) Lack of association between mitochondrial DNA mutation np 3243 and maternally inherited diabetes mellitus. Clin Biochem 32:81-82
    • (1999) Clin Biochem , vol.32 , pp. 81-82
    • Zambelli, A.1    Vidal-Rioja, L.2
  • 28
    • 0034748245 scopus 로고    scopus 로고
    • Clinical features of diabetic patients with 0.01-0.1% heteroplasmy A3243G mutation in leukocyte mitochondrial DNA
    • Iwase M, Gotoh D, Urata M, Kang D, Hamasaki N, Yoshinari M, Fujishima M (2001) Clinical features of diabetic patients with 0.01-0.1% heteroplasmy A3243G mutation in leukocyte mitochondrial DNA. Diabetes Res Clin Pract 54:215-217
    • (2001) Diabetes Res Clin Pract , vol.54 , pp. 215-217
    • Iwase, M.1    Gotoh, D.2    Urata, M.3    Kang, D.4    Hamasaki, N.5    Yoshinari, M.6    Fujishima, M.7


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.