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Journal Abstract Search

254 related items for PubMed ID: 9590298

  • 1. Correction of disease-causing CBS mutations in yeast.
    Shan X, Kruger WD.
    Nat Genet; 1998 May; 19(1):91-3. PubMed ID: 9590298
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  • 3. Characterisation of five missense mutations in the cystathionine beta-synthase gene from three patients with B6-nonresponsive homocystinuria.
    Dawson PA, Cox AJ, Emmerson BT, Dudman NP, Kraus JP, Gordon RB.
    Eur J Hum Genet; 1997 May; 5(1):15-21. PubMed ID: 9156316
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  • 4. Cystathionine beta-synthase mutations in homocystinuria.
    Kraus JP, Janosík M, Kozich V, Mandell R, Shih V, Sperandeo MP, Sebastio G, de Franchis R, Andria G, Kluijtmans LA, Blom H, Boers GH, Gordon RB, Kamoun P, Tsai MY, Kruger WD, Koch HG, Ohura T, Gaustadnes M.
    Hum Mutat; 1999 May; 13(5):362-75. PubMed ID: 10338090
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  • 5. Identification and functional analysis of two novel mutations in the CBS gene in Polish patients with homocystinuria.
    Orendáè M, Pronicka E, Kubalska J, Janosik M, Sokolová J, Linnebank M, Koch HG, Kozich V.
    Hum Mutat; 2004 Jun; 23(6):631. PubMed ID: 15146473
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  • 8. Defective cystathionine beta-synthase regulation by S-adenosylmethionine in a partially pyridoxine responsive homocystinuria patient.
    Kluijtmans LA, Boers GH, Stevens EM, Renier WO, Kraus JP, Trijbels FJ, van den Heuvel LP, Blom HJ.
    J Clin Invest; 1996 Jul 15; 98(2):285-9. PubMed ID: 8755636
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  • 9. A 31 bp VNTR in the cystathionine beta-synthase (CBS) gene is associated with reduced CBS activity and elevated post-load homocysteine levels.
    Lievers KJ, Kluijtmans LA, Heil SG, Boers GH, Verhoef P, van Oppenraay-Emmerzaal D, den Heijer M, Trijbels FJ, Blom HJ.
    Eur J Hum Genet; 2001 Aug 15; 9(8):583-9. PubMed ID: 11528503
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  • 12. Expression of mutant human cystathionine beta-synthase rescues neonatal lethality but not homocystinuria in a mouse model.
    Wang L, Chen X, Tang B, Hua X, Klein-Szanto A, Kruger WD.
    Hum Mol Genet; 2005 Aug 01; 14(15):2201-8. PubMed ID: 15972722
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  • 13. High prevalence of cerebral venous sinus thrombosis (CVST) as presentation of cystathionine beta-synthase deficiency in childhood: molecular and clinical findings of Turkish probands.
    Karaca M, Hismi B, Ozgul RK, Karaca S, Yilmaz DY, Coskun T, Sivri HS, Tokatli A, Dursun A.
    Gene; 2014 Jan 25; 534(2):197-203. PubMed ID: 24211323
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  • 14. Contrasting behaviors of mutant cystathionine beta-synthase enzymes associated with pyridoxine response.
    Chen X, Wang L, Fazlieva R, Kruger WD.
    Hum Mutat; 2006 May 25; 27(5):474-82. PubMed ID: 16619244
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  • 15. Screening for mutations by expressing patient cDNA segments in E. coli: homocystinuria due to cystathionine beta-synthase deficiency.
    Kozich V, Kraus JP.
    Hum Mutat; 1992 May 25; 1(2):113-23. PubMed ID: 1301198
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  • 16. S-adenosylhomocysteine, but not homocysteine, is toxic to yeast lacking cystathionine beta-synthase.
    Christopher SA, Melnyk S, James SJ, Kruger WD.
    Mol Genet Metab; 2002 Apr 25; 75(4):335-43. PubMed ID: 12051965
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  • 17. Mice deficient in cystathionine beta synthase display altered homocysteine remethylation pathway.
    Alberto JM, Hamelet J, Noll C, Blaise S, Bronowicki JP, Guéant JL, Delabar JM, Janel N.
    Mol Genet Metab; 2007 Aug 25; 91(4):396-8. PubMed ID: 17562377
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  • 18. [From gene to disease; from homocysteine to hyperhomocysteinemia].
    Boers GH.
    Ned Tijdschr Geneeskd; 2001 May 19; 145(20):956-8. PubMed ID: 11396261
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  • 19. Polymorphisms in the CBS gene associated with decreased risk of coronary artery disease and increased responsiveness to total homocysteine lowering by folic acid.
    Kruger WD, Evans AA, Wang L, Malinow MR, Duell PB, Anderson PH, Block PC, Hess DL, Graf EE, Upson B.
    Mol Genet Metab; 2000 May 19; 70(1):53-60. PubMed ID: 10833331
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  • 20. A yeast assay for functional detection of mutations in the human cystathionine beta-synthase gene.
    Kruger WD, Cox DR.
    Hum Mol Genet; 1995 Jul 19; 4(7):1155-61. PubMed ID: 8528202
    [Abstract] [Full Text] [Related]

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