BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

285 related articles for article (PubMed ID: 15146473)

  • 21. 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]  

  • 22. High prevalence of CBS p.T191M mutation in homocystinuric patients from Colombia.
    Bermúdez M; Frank N; Bernal J; Urreizti R; Briceño I; Merinero B; Perez-Cerdá C; Ugarte M; Grinberg D; Balcells S; Kraus JP
    Hum Mutat; 2006 Mar; 27(3):296. PubMed ID: 16470595
    [TBL] [Abstract][Full Text] [Related]  

  • 23. [Disruption of amino acid metabolism in astrocyte and neurological disorders--possible implication of abnormal glia-neuron network in homocystineuria].
    Enokido Y
    Brain Nerve; 2007 Jul; 59(7):731-7. PubMed ID: 17663144
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Spontaneous perforation of the small intestine, a novel manifestation of classical homocystinuria in an adult with new cystathionine beta-synthetase gene mutations.
    Muacević-Katanec D; Kekez T; Fumić K; Barić I; Merkler M; Jakić-Razumović J; Krznarić Z; Zadro R; Katanec D; Reiner Z
    Coll Antropol; 2011 Mar; 35(1):181-5. PubMed ID: 21661368
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Functional assays testing pathogenicity of 14 cystathionine-beta synthase mutations.
    Urreizti R; Asteggiano C; Cozar M; Frank N; Vilaseca MA; Grinberg D; Balcells S
    Hum Mutat; 2006 Feb; 27(2):211. PubMed ID: 16429402
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Reduced response of Cystathionine Beta-Synthase (CBS) to S-Adenosylmethionine (SAM): Identification and functional analysis of CBS gene mutations in Homocystinuria patients.
    Mendes MI; Colaço HG; Smith DE; Ramos RJ; Pop A; van Dooren SJ; Tavares de Almeida I; Kluijtmans LA; Janssen MC; Rivera I; Salomons GS; Leandro P; Blom HJ
    J Inherit Metab Dis; 2014 Mar; 37(2):245-54. PubMed ID: 23974653
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Two novel mutations (K384E and L539S) in the C-terminal moiety of the cystathionine beta-synthase protein in two French pyridoxine-responsive homocystinuria patients.
    Aral B; Coudé M; London J; Aupetit J; Chassé JF; Zabot MT; Chadefaux-Vekemans B; Kamoun P
    Hum Mutat; 1997; 9(1):81-2. PubMed ID: 8990018
    [No Abstract]   [Full Text] [Related]  

  • 28. Two Novel Mutations in the Cystathionine beta-synthase Gene of Homocystinuric Patients.
    Tsai MY; Wong PW; Garg U; Hanson NQ; Schwichtenberg K
    Mol Diagn; 1997 Jun; 2(2):129-133. PubMed ID: 10462600
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Are heterocygotes for classical homocystinuria at risk of vitamin B12 and folic acid deficiency?
    Elsaid MF; Bener A; Lindner M; Alzyoud M; Shahbek N; Abdelrahman MO; Abdoh G; Bessisso MS; Zschocke J; Hoffmann GF
    Mol Genet Metab; 2007; 92(1-2):100-3. PubMed ID: 17686644
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Clinical and molecular findings of 13 families from Saudi Arabia and a family from Sudan with homocystinuria.
    Zaidi SH; Faiyaz-Ul-Haque M; Shuaib T; Balobaid A; Rahbeeni Z; Abalkhail H; Al-Abdullatif A; Al-Hassnan Z; Peltekova I; Al-Owain M
    Clin Genet; 2012 Jun; 81(6):563-70. PubMed ID: 21517828
    [TBL] [Abstract][Full Text] [Related]  

  • 31. CBS mutations are good predictors for B6-responsiveness: A study based on the analysis of 35 Brazilian Classical Homocystinuria patients.
    Poloni S; Sperb-Ludwig F; Borsatto T; Weber Hoss G; Doriqui MJR; Embiruçu EK; Boa-Sorte N; Marques C; Kim CA; Fischinger Moura de Souza C; Rocha H; Ribeiro M; Steiner CE; Moreno CA; Bernardi P; Valadares E; Artigalas O; Carvalho G; Wanderley HYC; Kugele J; Walter M; Gallego-Villar L; Blom HJ; Schwartz IVD
    Mol Genet Genomic Med; 2018 Mar; 6(2):160-170. PubMed ID: 29352562
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Characterization of mutations in severe methylenetetrahydrofolate reductase deficiency reveals an FAD-responsive mutation.
    Sibani S; Leclerc D; Weisberg IS; O'Ferrall E; Watkins D; Artigas C; Rosenblatt DS; Rozen R
    Hum Mutat; 2003 May; 21(5):509-20. PubMed ID: 12673793
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Molecular genetic analysis of pyridoxine-nonresponsive homocystinuric siblings with different blood methionine levels during the neonatal period.
    Chen S; Ito M; Saijo T; Naito E; Kuroda Y
    J Med Invest; 1999 Aug; 46(3-4):186-91. PubMed ID: 10687314
    [TBL] [Abstract][Full Text] [Related]  

  • 34. 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]  

  • 35. A novel mutation of cystathionine beta-synthase gene in a Thai boy with homocystinuria.
    Sirachainan N; Wattanasirichaigoon D; Suwannarat P; Sasanakul W; Chuansumrit A
    J Pediatr Hematol Oncol; 2009 Oct; 31(10):768-70. PubMed ID: 20051935
    [TBL] [Abstract][Full Text] [Related]  

  • 36. 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]  

  • 37. The molecular basis of cystathionine beta-synthase deficiency in Dutch patients with homocystinuria: effect of CBS genotype on biochemical and clinical phenotype and on response to treatment.
    Kluijtmans LA; Boers GH; Kraus JP; van den Heuvel LP; Cruysberg JR; Trijbels FJ; Blom HJ
    Am J Hum Genet; 1999 Jul; 65(1):59-67. PubMed ID: 10364517
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Recombinant adeno-associated virus mediated gene transfer in a mouse model for homocystinuria.
    Park ES; Oh HJ; Kruger WD; Jung SC; Lee JS
    Exp Mol Med; 2006 Dec; 38(6):652-61. PubMed ID: 17202841
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Detection of a novel deletion in the cystathionine beta-synthase (CBS) gene using an improved genomic DNA based method.
    Gaustadnes M; Kluijtmans LA; Jensen OK; Rasmussen K; Heil SG; Kraus JP; Blom HJ; Ingerslev J; Rüdiger N
    FEBS Lett; 1998 Jul; 431(2):175-9. PubMed ID: 9708897
    [TBL] [Abstract][Full Text] [Related]  

  • 40. High prevalence of the I278T mutation of the human cystathionine beta-synthase detected by a novel screening application.
    Linnebank M; Homberger A; Junker R; Nowak-Goettl U; Harms E; Koch HG
    Thromb Haemost; 2001 Jun; 85(6):986-8. PubMed ID: 11434706
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 15.