BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

200 related articles for article (PubMed ID: 25331909)

  • 61. A common mutation in the CBS gene explains a high incidence of homocystinuria in the Qatari population.
    El-Said MF; Badii R; Bessisso MS; Shahbek N; El-Ali MG; El-Marikhie M; El-Zyoid M; Salem MS; Bener A; Hoffmann GF; Zschocke J
    Hum Mutat; 2006 Jul; 27(7):719. PubMed ID: 16786517
    [TBL] [Abstract][Full Text] [Related]  

  • 62. Modulation of the heme electronic structure and cystathionine beta-synthase activity by second coordination sphere ligands: The role of heme ligand switching in redox regulation.
    Singh S; Madzelan P; Stasser J; Weeks CL; Becker D; Spiro TG; Penner-Hahn J; Banerjee R
    J Inorg Biochem; 2009 May; 103(5):689-97. PubMed ID: 19232736
    [TBL] [Abstract][Full Text] [Related]  

  • 63. 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]  

  • 64. Allosteric communication between the pyridoxal 5'-phosphate (PLP) and heme sites in the H2S generator human cystathionine β-synthase.
    Yadav PK; Xie P; Banerjee R
    J Biol Chem; 2012 Nov; 287(45):37611-20. PubMed ID: 22977242
    [TBL] [Abstract][Full Text] [Related]  

  • 65. Diagnosis of cystathionine beta-synthase deficiency by genetic analysis.
    Suri F; Narooie-Nejad M; Safari I; Moazzeni H; Rohani MR; Khajeh A; Klotzle B; Fan JB; Elahi E
    J Neurol Sci; 2014 Dec; 347(1-2):305-9. PubMed ID: 25455305
    [TBL] [Abstract][Full Text] [Related]  

  • 66. A case of homocystinuria due to CBS gene mutations revealed by cerebral venous thrombosis.
    Sarov M; Not A; de Baulny HO; Masnou P; Vahedi K; Bousser MG; Denier C
    J Neurol Sci; 2014 Jan; 336(1-2):257-9. PubMed ID: 24169224
    [TBL] [Abstract][Full Text] [Related]  

  • 67. 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]  

  • 68. Simultaneous detection and screening of T833C and G919A mutations of the cystathionine beta-synthase gene by single-strand conformational polymorphism.
    Tsai MY; Hanson NQ; Bignell MK; Schwichtenberg KA
    Clin Biochem; 1996 Oct; 29(5):473-7. PubMed ID: 8884070
    [TBL] [Abstract][Full Text] [Related]  

  • 69. Examination of two different proteasome inhibitors in reactivating mutant human cystathionine β-synthase in mice.
    Gupta S; Lee HO; Wang L; Kruger WD
    PLoS One; 2023; 18(6):e0286550. PubMed ID: 37319242
    [TBL] [Abstract][Full Text] [Related]  

  • 70. Eight novel mutations of CBS gene in nine Chinese patients with classical homocystinuria.
    Li DX; Li XY; Dong H; Liu YP; Ding Y; Song JQ; Jin Y; Zhang Y; Wang Q; Yang YL
    World J Pediatr; 2018 Apr; 14(2):197-203. PubMed ID: 29508359
    [TBL] [Abstract][Full Text] [Related]  

  • 71. Clinical aspects of cystathionine beta-synthase deficiency: how wide is the spectrum? The Italian Collaborative Study Group on Homocystinuria.
    De Franchis R; Sperandeo MP; Sebastio G; Andria G
    Eur J Pediatr; 1998 Apr; 157 Suppl 2():S67-70. PubMed ID: 9587029
    [TBL] [Abstract][Full Text] [Related]  

  • 72. 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]  

  • 73. A pathogenic linked mutation in the catalytic core of human cystathionine beta-synthase disrupts allosteric regulation and allows kinetic characterization of a full-length dimer.
    Sen S; Banerjee R
    Biochemistry; 2007 Apr; 46(13):4110-6. PubMed ID: 17352495
    [TBL] [Abstract][Full Text] [Related]  

  • 74. The role of cystathionine beta-synthase in homocysteine metabolism.
    Jhee KH; Kruger WD
    Antioxid Redox Signal; 2005; 7(5-6):813-22. PubMed ID: 15890029
    [TBL] [Abstract][Full Text] [Related]  

  • 75. 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]  

  • 76. 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]  

  • 77. Enzyme replacement prevents neonatal death, liver damage, and osteoporosis in murine homocystinuria.
    Majtan T; Hůlková H; Park I; Krijt J; Kožich V; Bublil EM; Kraus JP
    FASEB J; 2017 Dec; 31(12):5495-5506. PubMed ID: 28821635
    [TBL] [Abstract][Full Text] [Related]  

  • 78. Molecular and biochemical approaches in the identification of heterozygotes for homocystinuria.
    Tsai MY; Garg U; Key NS; Hanson NQ; Suh A; Schwichtenberg K
    Atherosclerosis; 1996 Apr; 122(1):69-77. PubMed ID: 8724113
    [TBL] [Abstract][Full Text] [Related]  

  • 79. 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]  

  • 80. 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]  

    [Previous]   [Next]    [New Search]
    of 10.