BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

138 related articles for article (PubMed ID: 21240075)

  • 1. 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]  

  • 2. 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]  

  • 3. 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]  

  • 4. 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]  

  • 5. The molecular basis of cystathionine beta-synthase deficiency in Australian patients: genotype-phenotype correlations and response to treatment.
    Gaustadnes M; Wilcken B; Oliveriusova J; McGill J; Fletcher J; Kraus JP; Wilcken DE
    Hum Mutat; 2002 Aug; 20(2):117-26. PubMed ID: 12124992
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. 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; 5(1):15-21. PubMed ID: 9156316
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Novel Compound Heterozygous CBS Mutations Cause Homocystinuria in a Han Chinese Family.
    Gong B; Liu L; Li Z; Ye Z; Xiao Y; Zeng G; Shi Y; Wang Y; Feng X; Li X; Hao F; Liu X; Qu C; Li Y; Mu G; Yang Z
    Sci Rep; 2015 Dec; 5():17947. PubMed ID: 26667307
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Cystathionine beta-synthase deficiency in Georgia (USA): correlation of clinical and biochemical phenotype with genotype.
    Kruger WD; Wang L; Jhee KH; Singh RH; Elsas LJ
    Hum Mutat; 2003 Dec; 22(6):434-41. PubMed ID: 14635102
    [TBL] [Abstract][Full Text] [Related]  

  • 10. A revisit to the natural history of homocystinuria due to cystathionine beta-synthase deficiency.
    Skovby F; Gaustadnes M; Mudd SH
    Mol Genet Metab; 2010 Jan; 99(1):1-3. PubMed ID: 19819175
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Rescue of cystathionine beta-synthase (CBS) mutants with chemical chaperones: purification and characterization of eight CBS mutant enzymes.
    Majtan T; Liu L; Carpenter JF; Kraus JP
    J Biol Chem; 2010 May; 285(21):15866-73. PubMed ID: 20308073
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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; 534(2):197-203. PubMed ID: 24211323
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Mutational analysis of the cystathionine beta-synthase gene: a splicing mutation, two missense mutations and an insertion in patients with homocystinuria. Mutations in brief no. 120. Online.
    Gordon RB; Cox AJ; Dawson PA; Emmerson BT; Kraus JP; Dudman NP
    Hum Mutat; 1998; 11(4):332. PubMed ID: 10215408
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. 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; 13(5):362-75. PubMed ID: 10338090
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Novel cystathionine β-synthase gene mutations in a Filipino patient with classic homocystinuria.
    Silao CL; Fabella TD; Rama KI; Estrada SC
    Pediatr Int; 2015 Oct; 57(5):884-7. PubMed ID: 25939784
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Disposition of homocysteine in subjects heterozygous for homocystinuria due to cystathionine beta-synthase deficiency: relationship between genotype and phenotype.
    Guttormsen AB; Ueland PM; Kruger WD; Kim CE; Ose L; Følling I; Refsum H
    Am J Med Genet; 2001 May; 100(3):204-13. PubMed ID: 11343305
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Variable hyperhomocysteinaemia phenotype in heterozygotes for the Gly307Ser mutation in cystathionine beta-synthase.
    Dawson PA; Cochran DA; Emmerson BT; Kraus JP; Dudman NP; Gordon RB
    Aust N Z J Med; 1996 Apr; 26(2):180-5. PubMed ID: 8744616
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.