These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

137 related articles for article (PubMed ID: 1297819)

  • 1. Pyridoxine responsive and unresponsive homocystinuria.
    Kraus JP; Kozich V
    J Nutr Sci Vitaminol (Tokyo); 1992; Spec No():589-92. PubMed ID: 1297819
    [No Abstract]   [Full Text] [Related]  

  • 2. Recent advances in the mechanism of pyridoxine-responsive disorders.
    Fowler B
    J Inherit Metab Dis; 1985; 8 Suppl 1():76-83. PubMed ID: 3930845
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Affinity of cystathionine beta-synthase for pyridoxal 5'-phosphate in cultured cells. A mechanism for pyridoxine-responsive homocystinuria.
    Lipson MH; Kraus J; Rosenberg LE
    J Clin Invest; 1980 Aug; 66(2):188-93. PubMed ID: 7400312
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Homocystinuria. Evidence for three distinct classes of cystathionine beta-synthase mutants in cultured fibroblasts.
    Fowler B; Kraus J; Packman S; Rosenberg LE
    J Clin Invest; 1978 Mar; 61(3):645-53. PubMed ID: 641146
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Molecular basis of cystathionine beta-synthase deficiency in pyridoxine responsive and nonresponsive homocystinuria.
    Hu FL; Gu Z; Kozich V; Kraus JP; Ramesh V; Shih VE
    Hum Mol Genet; 1993 Nov; 2(11):1857-60. PubMed ID: 7506602
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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; 98(2):285-9. PubMed ID: 8755636
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Functional modeling of vitamin responsiveness in yeast: a common pyridoxine-responsive cystathionine beta-synthase mutation in homocystinuria.
    Kim CE; Gallagher PM; Guttormsen AB; Refsum H; Ueland PM; Ose L; Folling I; Whitehead AS; Tsai MY; Kruger WD
    Hum Mol Genet; 1997 Dec; 6(13):2213-21. PubMed ID: 9361025
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Pyridoxine non-responsive p.R336C mutation alters the molecular properties of cystathionine beta-synthase leading to severe homocystinuria phenotype.
    Al-Sadeq DW; Thanassoulas A; Islam Z; Kolatkar P; Al-Dewik N; Safieh-Garabedian B; Nasrallah GK; Nomikos M
    Biochim Biophys Acta Gen Subj; 2022 Jul; 1866(7):130148. PubMed ID: 35417765
    [No Abstract]   [Full Text] [Related]  

  • 9. Contrasting behaviors of mutant cystathionine beta-synthase enzymes associated with pyridoxine response.
    Chen X; Wang L; Fazlieva R; Kruger WD
    Hum Mutat; 2006 May; 27(5):474-82. PubMed ID: 16619244
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Characterization of a cystathionine beta-synthase allele with three mutations in cis in a patient with B6 nonresponsive homocystinuria.
    Marble M; Geraghty MT; de Franchis R; Kraus JP; Valle D
    Hum Mol Genet; 1994 Oct; 3(10):1883-6. PubMed ID: 7849717
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Homocystinuria due to cystathionine synthase deficiency: the effect of pyridoxine.
    Mudd SH; Edwards WA; Loeb PM; Brown MS; Laster L
    J Clin Invest; 1970 Sep; 49(9):1762-73. PubMed ID: 5449710
    [TBL] [Abstract][Full Text] [Related]  

  • 12. CBS gene mutations found in a Chinese pyridoxine-responsive homocystinuria patient.
    Kwok JS; Fung SL; Lui GC; Law EL; Chan MH; Leung CB; Tang NL
    Pathology; 2011 Jan; 43(1):81-3. PubMed ID: 21240075
    [No Abstract]   [Full Text] [Related]  

  • 13. Studies on the use of skin fibroblasts for the measurement of cystathionine synthase activity with respect to homocystinuria.
    Griffiths R; Tudball N
    Clin Chim Acta; 1976 Nov; 73(1):157-62. PubMed ID: 1000825
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Identical genotypes in siblings with different homocystinuric phenotypes: identification of three mutations in cystathionine beta-synthase using an improved bacterial expression system.
    de Franchis R; Kozich V; McInnes RR; Kraus JP
    Hum Mol Genet; 1994 Jul; 3(7):1103-8. PubMed ID: 7981678
    [TBL] [Abstract][Full Text] [Related]  

  • 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; 1(2):113-23. PubMed ID: 1301198
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Cystathionine beta-synthase deficiency: observations on the biochemical lesion in a vitamin B6 non-responsive patient.
    Griffiths R
    Monogr Hum Genet; 1978; 9():135-9. PubMed ID: 732830
    [No Abstract]   [Full Text] [Related]  

  • 17. Pyridoxine-responsive homocystinuria.
    Nutr Rev; 1981 Jan; 39(1):16-8. PubMed ID: 7012699
    [No Abstract]   [Full Text] [Related]  

  • 18. Homocystinuria due to cystathionine beta-synthase deficiency--the effects of betaine treatment in pyridoxine-responsive patients.
    Wilcken DE; Dudman NP; Tyrrell PA
    Metabolism; 1985 Dec; 34(12):1115-21. PubMed ID: 3934499
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Homocystinuria: studies on cystathionine beta-synthase, S-adenosylmethionine synthetase and cystathionase activities in skin fibroblasts.
    Bittles AH; Carson NA
    J Inherit Metab Dis; 1981; 4(1):3-6. PubMed ID: 6785521
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Impaired heme binding and aggregation of mutant cystathionine beta-synthase subunits in homocystinuria.
    Janosík M; Oliveriusová J; Janosíková B; Sokolová J; Kraus E; Kraus JP; Kozich V
    Am J Hum Genet; 2001 Jun; 68(6):1506-13. PubMed ID: 11359213
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.