메뉴 건너뛰기




Volumn 48, Issue 3, 2008, Pages 479-487

Expression of a novel missense mutation found in the A4GALT gene of Amish individuals with the p phenotype

Author keywords

[No Author keywords available]

Indexed keywords

4 ALPHA GALACTOSYLTRANSFERASE; GALACTOSYLTRANSFERASE; UNCLASSIFIED DRUG;

EID: 39749190733     PISSN: 00411132     EISSN: 15372995     Source Type: Journal    
DOI: 10.1111/j.1537-2995.2007.01552.x     Document Type: Article
Times cited : (20)

References (29)
  • 1
    • 27644591930 scopus 로고    scopus 로고
    • A novel missense mutation in the A4GALT gene of Amish individuals with the p phenotype
    • Hellberg Å, McGrath C, Reid ME, Olsson ML. A novel missense mutation in the A4GALT gene of Amish individuals with the p phenotype. Transfusion 2003 43 : 99A.
    • (2003) Transfusion , vol.43
    • Å, H.1    McGrath, C.2    Reid, M.E.3    Olsson, M.L.4
  • 2
    • 0034685913 scopus 로고    scopus 로고
    • Molecular cloning of globotriaosylceramide/CD77 synthase, a glycosyltransferase that initiates the synthesis of globo series glycosphingolipids
    • Kojima Y, Fukumoto S, Furukawa K, Okajima T, Wiels J, Yokoyama K, Suzuki Y, Urano T, Ohta M, Furukawa K. Molecular cloning of globotriaosylceramide/CD77 synthase, a glycosyltransferase that initiates the synthesis of globo series glycosphingolipids. J Biol Chem 2000 275 : 15152 6.
    • (2000) J Biol Chem , vol.275 , pp. 15152-6
    • Kojima, Y.1    Fukumoto, S.2    Furukawa, K.3    Okajima, T.4    Wiels, J.5    Yokoyama, K.6    Suzuki, Y.7    Urano, T.8    Ohta, M.9    Furukawa, K.10
  • 3
    • 0034595848 scopus 로고    scopus 로고
    • Cloning and expression of the histo-blood group Pk UDP-galactose: Gal-beta1-4Glc-beta1-Cer alpha1,4-galactosyltransferase. Molecular genetic basis of the p phenotype
    • Steffensen R, Carlier K, Wiels J, Levery SB, Stroud M, Cedergren B, Nilsson SB, Bennett EP, Jersild C, Clausen H. Cloning and expression of the histo-blood group Pk UDP-galactose: Gal-beta1-4Glc-beta1-Cer alpha1,4-galactosyltransferase. Molecular genetic basis of the p phenotype. J Biol Chem 2000 275 : 16723 9.
    • (2000) J Biol Chem , vol.275 , pp. 16723-9
    • Steffensen, R.1    Carlier, K.2    Wiels, J.3    Levery, S.B.4    Stroud, M.5    Cedergren, B.6    Nilsson, S.B.7    Bennett, E.P.8    Jersild, C.9    Clausen, H.10
  • 5
    • 39749125389 scopus 로고
    • Studies on offspring of pp mothers
    • Obregon E, McKeever BG. Studies on offspring of pp mothers. Transfusion 1980 20 : 621 2.
    • (1980) Transfusion , vol.20 , pp. 621-2
    • Obregon, E.1    McKeever, B.G.2
  • 7
    • 84995145356 scopus 로고
    • Anti-PP1Pk and early abortion
    • Cantin G, Lyonnais J. Anti-PP1Pk and early abortion. Transfusion 1983 23 : 350 1.
    • (1983) Transfusion , vol.23 , pp. 350-1
    • Cantin, G.1    Lyonnais, J.2
  • 8
    • 0027052001 scopus 로고
    • Glycosphingolipid expression in spontaneously aborted fetuses and placenta from blood group p women. Evidence for placenta being the primary target for anti-Tja-antibodies
    • Lindstrom K, Dem Borne AE, Breimer ME, Cedergren B, Okubo Y, Rydberg L, Teneberg S, Samuelsson BE. Glycosphingolipid expression in spontaneously aborted fetuses and placenta from blood group p women. Evidence for placenta being the primary target for anti-Tja-antibodies. Glycoconj J 1992 9 : 325 9.
    • (1992) Glycoconj J , vol.9 , pp. 325-9
    • Lindstrom, K.1    Dem Borne, A.E.2    Breimer, M.E.3    Cedergren, B.4    Okubo, Y.5    Rydberg, L.6    Teneberg, S.7    Samuelsson, B.E.8
  • 9
    • 0032763888 scopus 로고    scopus 로고
    • Evolutionary considerations in relating oligosaccharide diversity to biological function
    • Gagneux P, Varki A. Evolutionary considerations in relating oligosaccharide diversity to biological function. Glycobiology 1999 9 : 747 55.
    • (1999) Glycobiology , vol.9 , pp. 747-55
    • Gagneux, P.1    Varki, A.2
  • 10
    • 0033783569 scopus 로고    scopus 로고
    • Blood group associations with parasites, bacteria, and viruses
    • Moulds JM, Moulds JJ. Blood group associations with parasites, bacteria, and viruses. Transfus Med Rev 2000 14 : 302 11.
    • (2000) Transfus Med Rev , vol.14 , pp. 302-11
    • Moulds, J.M.1    Moulds, J.J.2
  • 11
    • 4444322301 scopus 로고    scopus 로고
    • Correlation between blood group phenotype and virulence properties of Escherichia coli in patients with chronic urinary tract infection
    • Ziegler T, Jacobsohn N, Funfstuck R. Correlation between blood group phenotype and virulence properties of Escherichia coli in patients with chronic urinary tract infection. Int J Antimicrob Agents 2004 24 Suppl 1 : 70 5.
    • (2004) Int J Antimicrob Agents , vol.24 , Issue.SUPPL. 1 , pp. 70-5
    • Ziegler, T.1    Jacobsohn, N.2    Funfstuck, R.3
  • 13
    • 0034527810 scopus 로고    scopus 로고
    • Role of glycosphingolipid microdomains in CD4-dependent HIV-1 fusion
    • Fantini J, Hammache D, Pieroni G, Yahi N. Role of glycosphingolipid microdomains in CD4-dependent HIV-1 fusion. Glycoconj J 2000 17 : 199 204.
    • (2000) Glycoconj J , vol.17 , pp. 199-204
    • Fantini, J.1    Hammache, D.2    Pieroni, G.3    Yahi, N.4
  • 14
    • 25844482999 scopus 로고    scopus 로고
    • Lack of susceptibility of cells from patients with Fabry disease to productive infection with R5 human immunodeficiency virus
    • Lund N, Branch DR, Sakac D, Lingwood CA, Siatskas C, Robinson CJ, Brady RO, Medin JA. Lack of susceptibility of cells from patients with Fabry disease to productive infection with R5 human immunodeficiency virus. AIDS 2005 19 : 1543 6.
    • (2005) AIDS , vol.19 , pp. 1543-6
    • Lund, N.1    Branch, D.R.2    Sakac, D.3    Lingwood, C.A.4    Siatskas, C.5    Robinson, C.J.6    Brady, R.O.7    Medin, J.A.8
  • 17
    • 0015701773 scopus 로고
    • Population studies in northern Sweden. IV. Frequency of the blood type p
    • Cedergren B. Population studies in northern Sweden. IV. Frequency of the blood type p. Hereditas 1973 73 : 27 30.
    • (1973) Hereditas , vol.73 , pp. 27-30
    • Cedergren, B.1
  • 18
    • 0034529161 scopus 로고    scopus 로고
    • Molecular basis for the p phenotype. Identification of distinct and multiple mutations in the alpha1,4-galactosyltransferase gene in Swedish and Japanese individuals
    • Furukawa K, Iwamura K, Uchikawa M, Sojka BN, Wiels J, Okajima T, Urano T, Furukawa K. Molecular basis for the p phenotype. Identification of distinct and multiple mutations in the alpha1,4-galactosyltransferase gene in Swedish and Japanese individuals. J Biol Chem 2000 275 : 37752 6.
    • (2000) J Biol Chem , vol.275 , pp. 37752-6
    • Furukawa, K.1    Iwamura, K.2    Uchikawa, M.3    Sojka, B.N.4    Wiels, J.5    Okajima, T.6    Urano, T.7    Furukawa, K.8
  • 20
    • 0006032976 scopus 로고
    • Scottsdale (AZ): Herald Press
    • Hostetler J. Amish life. Scottsdale (AZ) : Herald Press 1983.
    • (1983) Amish Life.
    • Hostetler, J.1
  • 22
    • 0034881981 scopus 로고    scopus 로고
    • Towards a complete North American Anabaptist Genealogy II: Analysis of inbreeding
    • Agarwala R, Schaffer AA, Tomlin JF. Towards a complete North American Anabaptist Genealogy II: analysis of inbreeding. Hum Biol 2001 73 : 533 45.
    • (2001) Hum Biol , vol.73 , pp. 533-45
    • Agarwala, R.1    Schaffer, A.A.2    Tomlin, J.F.3
  • 23
    • 0024284028 scopus 로고
    • A simple salting out procedure for extracting DNA from human nucleated cells
    • Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 1988 16 : 1215.
    • (1988) Nucleic Acids Res , vol.16 , pp. 1215
    • Miller, S.A.1    Dykes, D.D.2    Polesky, H.F.3
  • 24
    • 0018614040 scopus 로고
    • P blood group regulation of glycosphingolipid levels in human erythrocytes
    • Fletcher KS, Bremer EG, Schwarting GA. P blood group regulation of glycosphingolipid levels in human erythrocytes. J Biol Chem 1979 254 : 11196 8.
    • (1979) J Biol Chem , vol.254 , pp. 11196-8
    • Fletcher, K.S.1    Bremer, E.G.2    Schwarting, G.A.3
  • 25
    • 0042319208 scopus 로고    scopus 로고
    • The major mutation in the RMRP gene causing CHH among the Amish is the same as that found in most Finnish cases
    • Ridanpaa M, Jain P, McKusick VA, Francomano CA, Kaitila I. The major mutation in the RMRP gene causing CHH among the Amish is the same as that found in most Finnish cases. Am J Med Genet C Semin Med Genet 2003 121 : 81 3.
    • (2003) Am J Med Genet C Semin Med Genet , vol.121 , pp. 81-3
    • Ridanpaa, M.1    Jain, P.2    McKusick, V.A.3    Francomano, C.A.4    Kaitila, I.5
  • 26
    • 3142683273 scopus 로고    scopus 로고
    • Genetic heterogeneity at the glycosyltransferase loci underlying the GLOB blood group system and collection
    • Hellberg Å, Ringressi A, Yahalom V, Safwenberg J, Reid ME, Olsson ML. Genetic heterogeneity at the glycosyltransferase loci underlying the GLOB blood group system and collection. Br J Haematol 2004 125 : 528 36.
    • (2004) Br J Haematol , vol.125 , pp. 528-36
    • Å, H.1    Ringressi, A.2    Yahalom, V.3    Safwenberg, J.4    Reid, M.E.5    Olsson, M.L.6
  • 27
    • 0034682670 scopus 로고    scopus 로고
    • Cloning of Gb3 synthase, the key enzyme in globo-series glycosphingolipid synthesis, predicts a family of alpha 1, 4-glycosyltransferases conserved in plants, insects, and mammals
    • Keusch JJ, Manzella SM, Nyame KA, Cummings RD, Baenziger JU. Cloning of Gb3 synthase, the key enzyme in globo-series glycosphingolipid synthesis, predicts a family of alpha 1, 4-glycosyltransferases conserved in plants, insects, and mammals. J Biol Chem 2000 275 : 25315 21.
    • (2000) J Biol Chem , vol.275 , pp. 25315-21
    • Keusch, J.J.1    Manzella, S.M.2    Nyame, K.A.3    Cummings, R.D.4    Baenziger, J.U.5
  • 28
    • 0036366569 scopus 로고    scopus 로고
    • Three-base deletion and one-base insertion of the alpha(1,4) galactosyltransferase gene responsible for the p phenotype
    • Koda Y, Soejima M, Sato H, Maeda Y, Kimura H. Three-base deletion and one-base insertion of the alpha(1,4) galactosyltransferase gene responsible for the p phenotype. Transfusion 2002 42 : 48 51.
    • (2002) Transfusion , vol.42 , pp. 48-51
    • Koda, Y.1    Soejima, M.2    Sato, H.3    Maeda, Y.4    Kimura, H.5
  • 29
    • 0842281744 scopus 로고    scopus 로고
    • Molecular basis for p blood group phenotype in China
    • Yan L, Zhu F, Xu X, Zantek ND. Molecular basis for p blood group phenotype in China. Transfusion 2004 44 : 136 8.
    • (2004) Transfusion , vol.44 , pp. 136-8
    • Yan, L.1    Zhu, F.2    Xu, X.3    Zantek, N.D.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.