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Volumn 289, Issue 1-2, 1999, Pages 45-55

Genetic variants showing apparent hot-spots in the human serum albumin gene

Author keywords

Albumin variants; Bisalbuminaemia; Functional consequences of albumin variation; Hypermutability; Proalbumin variants

Indexed keywords

HUMAN SERUM ALBUMIN;

EID: 0032720861     PISSN: 00098981     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0009-8981(99)00166-7     Document Type: Article
Times cited : (15)

References (29)
  • 1
    • 0027288476 scopus 로고
    • Albumin Hawkes Bay; a low level variant caused by loss of a sulphydryl group at position 177
    • Brennan SO, Fellowes AP. Albumin Hawkes Bay; a low level variant caused by loss of a sulphydryl group at position 177. Biochim Biophys Acta 1993;1182:46-50.
    • (1993) Biochim Biophys Acta , vol.1182 , pp. 46-50
    • Brennan, S.O.1    Fellowes, A.P.2
  • 2
    • 0028300483 scopus 로고
    • Genetic variants of human serum albumin in Italy: Point mutants and a carboxyl-terminal variant
    • Madison J, Galliano M, Watkins S, Minchiotti L, Porta F, Rossi A et al. Genetic variants of human serum albumin in Italy: Point mutants and a carboxyl-terminal variant. Proc Natl Acad Sci USA 1994;91:6476-80.
    • (1994) Proc Natl Acad Sci USA , vol.91 , pp. 6476-6480
    • Madison, J.1    Galliano, M.2    Watkins, S.3    Minchiotti, L.4    Porta, F.5    Rossi, A.6
  • 3
    • 0018815780 scopus 로고
    • Genetic and drug-induced variation in serum albumin
    • Tárnoky AL. Genetic and drug-induced variation in serum albumin. Adv Clin Chem 1980;21:101-45.
    • (1980) Adv Clin Chem , vol.21 , pp. 101-145
    • Tárnoky, A.L.1
  • 4
    • 0018225336 scopus 로고
    • Drugs and hereditary albumin variants: Electrophoretic and dye-binding tests in two families
    • Curnow JV, Fraser GP, Tárnoky AL. Drugs and hereditary albumin variants: electrophoretic and dye-binding tests in two families. IRCS Med Sci 1978;6:525.
    • (1978) IRCS Med Sci , vol.6 , pp. 525
    • Curnow, J.V.1    Fraser, G.P.2    Tárnoky, A.L.3
  • 7
    • 0018655667 scopus 로고
    • Een familie met bisalbuminemie
    • Sanders GTB. Een familie met bisalbuminemie. Ned T Geneesk 1979;123:1635-8.
    • (1979) Ned T Geneesk , vol.123 , pp. 1635-1638
    • Sanders, G.T.B.1
  • 8
    • 0028811201 scopus 로고
    • Structural study of the glycosylated and unglycosylated forms of a genetic variant of human serum albumin (63 Asp→Asn)
    • Sakamoto Y, Kitamura K, Madison J, Watkins S, Laurell C-B, Nomura M et al. Structural study of the glycosylated and unglycosylated forms of a genetic variant of human serum albumin (63 Asp→Asn). Biochim Biophys Acta 1995;1252:209-16.
    • (1995) Biochim Biophys Acta , vol.1252 , pp. 209-216
    • Sakamoto, Y.1    Kitamura, K.2    Madison, J.3    Watkins, S.4    Laurell, C.-B.5    Nomura, M.6
  • 9
    • 0000618886 scopus 로고
    • Screening of CnBr peptides from genetic variants of human serum albumin by isoelectric focusing
    • Peeters H, editor, Oxford: Pergamon Press
    • Galliano M, Minchiotti L, Iadarola P, Porta F. Screening of CnBr peptides from genetic variants of human serum albumin by isoelectric focusing. In: Peeters H, editor, Protides of the biological fluids, Vol. 34, Oxford: Pergamon Press, 1986, pp. 815-8.
    • (1986) Protides of the Biological Fluids , vol.34 , pp. 815-818
    • Galliano, M.1    Minchiotti, L.2    Iadarola, P.3    Porta, F.4
  • 10
    • 0022858318 scopus 로고
    • Molecular structure of the human albumin gene is revealed by nucleotide sequence within q11-22 of chromosome 4
    • Minghetti PP, Ruffner DE, Kuang W-J, Dennison OE, Hawkins JW, Beattie WG et al. Molecular structure of the human albumin gene is revealed by nucleotide sequence within q11-22 of chromosome 4. J Biol Chem 1986;261:6747-57.
    • (1986) J Biol Chem , vol.261 , pp. 6747-6757
    • Minghetti, P.P.1    Ruffner, D.E.2    Kuang, W.-J.3    Dennison, O.E.4    Hawkins, J.W.5    Beattie, W.G.6
  • 11
    • 0015690727 scopus 로고
    • Conformational studies on proteins by isoelectric focusing
    • Ui N. Conformational studies on proteins by isoelectric focusing. Ann NY Acad Sci 1973;209:198-209.
    • (1973) Ann NY Acad Sci , vol.209 , pp. 198-209
    • Ui, N.1
  • 12
    • 0022918545 scopus 로고
    • Occurrence of normal circulating proalbumin in a hemophilic A patient after acute hepatitis related to the Delta virus
    • Fine JM, Allain JP, Rochu D, Marneux M. Occurrence of normal circulating proalbumin in a hemophilic A patient after acute hepatitis related to the Delta virus. Clin Chem 1986;32:1991-3.
    • (1986) Clin Chem , vol.32 , pp. 1991-1993
    • Fine, J.M.1    Allain, J.P.2    Rochu, D.3    Marneux, M.4
  • 13
    • 0027743471 scopus 로고
    • Circulating normal proalbumin
    • Cesati R. Circulating normal proalbumin. Clin Chem 1993;39:2536-7.
    • (1993) Clin Chem , vol.39 , pp. 2536-2537
    • Cesati, R.1
  • 14
    • 0027506393 scopus 로고
    • Circulating proalbumin associated with a second case of antitrypsin Pittsburgh
    • Brennan SO, Sheat JM, Aiach M. Circulating proalbumin associated with a second case of antitrypsin Pittsburgh. Clin Chim Acta 1993;214:123-8.
    • (1993) Clin Chim Acta , vol.214 , pp. 123-128
    • Brennan, S.O.1    Sheat, J.M.2    Aiach, M.3
  • 17
    • 0041523005 scopus 로고
    • Identical structural changes in inherited albumin variants from different populations
    • Arai K, Ishioka N, Huss K, Madison J, Putnam FW Identical structural changes in inherited albumin variants from different populations. Proc Natl Acad Sci USA 1989;86:434-8.
    • (1989) Proc Natl Acad Sci USA , vol.86 , pp. 434-438
    • Arai, K.1    Ishioka, N.2    Huss, K.3    Madison, J.4    Putnam, F.W.5
  • 20
    • 0032961853 scopus 로고    scopus 로고
    • Structural characterization, stability and fatty acid-binding properties of two French genetic variants of human serum albumin
    • Minchiotti L, Kragh-Hansen U, Nielsen H, Hardy E, Mercier A-Y, Galliano M. Structural characterization, stability and fatty acid-binding properties of two French genetic variants of human serum albumin. Biochim Biophys Acta 1999;1431:223-31.
    • (1999) Biochim Biophys Acta , vol.1431 , pp. 223-231
    • Minchiotti, L.1    Kragh-Hansen, U.2    Nielsen, H.3    Hardy, E.4    Mercier, A.-Y.5    Galliano, M.6
  • 21
    • 0021366157 scopus 로고
    • Restriction sites containing CpG show a higher frequency of polymorphism in human DNA
    • Barker D, Schafer M, White R. Restriction sites containing CpG show a higher frequency of polymorphism in human DNA. Cell 1984;36:131-8.
    • (1984) Cell , vol.36 , pp. 131-138
    • Barker, D.1    Schafer, M.2    White, R.3
  • 23
    • 0028338869 scopus 로고
    • A point mutation in the human serum albumin gene results in familial dysalbuminaemic hyperthyroxinaemia
    • Petersen CE, Scottolini AG, Cody LR, Mandel M, Reimer N, Bhagavan NV. A point mutation in the human serum albumin gene results in familial dysalbuminaemic hyperthyroxinaemia. J Med Genet 1994;31:355-9.
    • (1994) J Med Genet , vol.31 , pp. 355-359
    • Petersen, C.E.1    Scottolini, A.G.2    Cody, L.R.3    Mandel, M.4    Reimer, N.5    Bhagavan, N.V.6
  • 24
    • 0028024140 scopus 로고
    • An identical missense mutation in the albumin gene results in familial dysalbuminemic hyperthyroxinemia in eight unrelated families
    • Sunthornthepvarakul T, Angkeow P, Weiss RE, Hayashi Y, Refetoff S. An identical missense mutation in the albumin gene results in familial dysalbuminemic hyperthyroxinemia in eight unrelated families. Biochem Biophys Res Commun 1994;202:781-7.
    • (1994) Biochem Biophys Res Commun , vol.202 , pp. 781-787
    • Sunthornthepvarakul, T.1    Angkeow, P.2    Weiss, R.E.3    Hayashi, Y.4    Refetoff, S.5
  • 25
    • 0030920437 scopus 로고    scopus 로고
    • A novel missense mutation in codon 218 of the albumin gene in a distinct phenotype of familial dysalbuminemic hyperthyroxinemia in a Japanese kindred
    • Wada N, Chiba H, Shimizu C, Kijima H, Kubo M, Koike T. A novel missense mutation in codon 218 of the albumin gene in a distinct phenotype of familial dysalbuminemic hyperthyroxinemia in a Japanese kindred. J Clin Endocrinol Metab 1997;82:3246-50.
    • (1997) J Clin Endocrinol Metab , vol.82 , pp. 3246-3250
    • Wada, N.1    Chiba, H.2    Shimizu, C.3    Kijima, H.4    Kubo, M.5    Koike, T.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.