BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

128 related articles for article (PubMed ID: 21831958)

  • 1. Heterozygosity for R1141X in ABCC6 and risk of ischemic vascular disease.
    Hornstrup LS; Tybjærg-Hansen A; Haase CL; Nordestgaard BG; Sillesen H; Grande P; Frikke-Schmidt R
    Circ Cardiovasc Genet; 2011 Oct; 4(5):534-41. PubMed ID: 21831958
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Patients with premature coronary artery disease who carry the ABCC6 R1141X mutation have no Pseudoxanthoma Elasticum phenotype.
    Wegman JJ; Hu X; Tan H; Bergen AA; Trip MD; Kastelein JJ; Smulders YM
    Int J Cardiol; 2005 Apr; 100(3):389-93. PubMed ID: 15837081
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Mutational analysis of the ABCC6 gene and the proximal ABCC6 gene promoter in German patients with pseudoxanthoma elasticum (PXE).
    Schulz V; Hendig D; Henjakovic M; Szliska C; Kleesiek K; Götting C
    Hum Mutat; 2006 Aug; 27(8):831. PubMed ID: 16835894
    [TBL] [Abstract][Full Text] [Related]  

  • 4. [From gene to disease; pseudoxanthoma elasticum and the ABCC6 gene].
    Bergen AA; Plomp AS; Gorgels TG; de Jong PT
    Ned Tijdschr Geneeskd; 2004 Aug; 148(32):1586-9. PubMed ID: 15382558
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Acute myocardial infarction and a new ABCC6 mutation in a 16-year-old boy with pseudoxanthoma elasticum.
    Kieć-Wilk B; Surdacki A; Dembińska-Kieć A; Michalowska J; Stachura-Dereń M; Dubiel JS; Dudek D; Rakowski T; Szastak G; Bodzioch M; Aslanidis C; Schmitz G
    Int J Cardiol; 2007 Mar; 116(2):261-2. PubMed ID: 16854481
    [TBL] [Abstract][Full Text] [Related]  

  • 6. ABCC6/MRP6 mutations: further insight into the molecular pathology of pseudoxanthoma elasticum.
    Hu X; Plomp A; Wijnholds J; Ten Brink J; van Soest S; van den Born LI; Leys A; Peek R; de Jong PT; Bergen AA
    Eur J Hum Genet; 2003 Mar; 11(3):215-24. PubMed ID: 12673275
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Analysis of the frequent R1141X mutation in the ABCC6 gene in pseudoxanthoma elasticum.
    Hu X; Peek R; Plomp A; ten Brink Jt; Scheffer G; van Soest S; Leys A; de Jong PT; Bergen AA
    Invest Ophthalmol Vis Sci; 2003 May; 44(5):1824-9. PubMed ID: 12714611
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Histological skin changes in heterozygote carriers of mutations in ABCC6, the gene causing pseudoxanthoma elasticum.
    Martin L; Chassaing N; Delaite D; Estève E; Maître F; Le Bert M
    J Eur Acad Dermatol Venereol; 2007 Mar; 21(3):368-73. PubMed ID: 17309461
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Frequent mutation in the ABCC6 gene (R1141X) is associated with a strong increase in the prevalence of coronary artery disease.
    Trip MD; Smulders YM; Wegman JJ; Hu X; Boer JM; ten Brink JB; Zwinderman AH; Kastelein JJ; Feskens EJ; Bergen AA
    Circulation; 2002 Aug; 106(7):773-5. PubMed ID: 12176944
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Assessment of a rapid-cycle PCR assay for the identification of the recurrent c.3421C>T mutation in the ABCC6 gene in pseudoxanthoma elasticum patients.
    Götting C; Schulz V; Hendig D; Grundt A; Dreier J; Szliska C; Brinkmann T; Kleesiek K
    Lab Invest; 2004 Jan; 84(1):122-30. PubMed ID: 14631379
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Genetically reduced antioxidative protection and increased ischemic heart disease risk: The Copenhagen City Heart Study.
    Juul K; Tybjaerg-Hansen A; Marklund S; Heegaard NH; Steffensen R; Sillesen H; Jensen G; Nordestgaard BG
    Circulation; 2004 Jan; 109(1):59-65. PubMed ID: 14662715
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Analysis of sequence variations in the ABCC6 gene among patients with abdominal aortic aneurysm and pseudoxanthoma elasticum.
    Schulz V; Hendig D; Schillinger M; Exner M; Domanovits H; Raith M; Szliska C; Kleesiek K; Gotting C
    J Vasc Res; 2005; 42(5):424-32. PubMed ID: 16127278
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Copy number variation in glutathione S-transferases M1 and T1 and ischemic vascular disease: four studies and meta-analyses.
    Nørskov MS; Frikke-Schmidt R; Loft S; Sillesen H; Grande P; Nordestgaard BG; Tybjaerg-Hansen A
    Circ Cardiovasc Genet; 2011 Aug; 4(4):418-28. PubMed ID: 21562205
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Spectrum of genetic variation at the ABCC6 locus in South Africans: Pseudoxanthoma elasticum patients and healthy individuals.
    Ramsay M; Greenberg T; Lombard Z; Labrum R; Lubbe S; Aron S; Marais AS; Terry S; Bercovitch L; Viljoen D
    J Dermatol Sci; 2009 Jun; 54(3):198-204. PubMed ID: 19339160
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Molecular genetics of pseudoxanthoma elasticum: type and frequency of mutations in ABCC6.
    Miksch S; Lumsden A; Guenther UP; Foernzler D; Christen-Zäch S; Daugherty C; Ramesar RK; Lebwohl M; Hohl D; Neldner KH; Lindpaintner K; Richards RI; Struk B
    Hum Mutat; 2005 Sep; 26(3):235-48. PubMed ID: 16086317
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Prothrombin and risk of venous thromboembolism, ischemic heart disease and ischemic cerebrovascular disease in the general population.
    Weischer M; Juul K; Zacho J; Jensen GB; Steffensen R; Schroeder TV; Tybjaerg-Hansen A; Nordestgaard BG
    Atherosclerosis; 2010 Feb; 208(2):480-3. PubMed ID: 19524925
    [TBL] [Abstract][Full Text] [Related]  

  • 17. A novel Q378X mutation exists in the transmembrane transporter protein ABCC6 and its pseudogene: implications for mutation analysis in pseudoxanthoma elasticum.
    Cai L; Lumsden A; Guenther UP; Neldner SA; Zäch S; Knoblauch H; Ramesar R; Hohl D; Callen DF; Neldner KH; Lindpaintner K; Richards RI; Struk B
    J Mol Med (Berl); 2001 Sep; 79(9):536-46. PubMed ID: 11692167
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Novel ABCC6 mutations in pseudoxanthoma elasticum.
    Chassaing N; Martin L; Mazereeuw J; Barrié L; Nizard S; Bonafé JL; Calvas P; Hovnanian A
    J Invest Dermatol; 2004 Mar; 122(3):608-13. PubMed ID: 15086542
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Pseudoxanthoma elasticum with generalized retinal dysfunction, a common finding?
    Audo I; Vanakker OM; Smith A; Leroy BP; Robson AG; Jenkins SA; Coucke PJ; Bird AC; De Paepe A; Holder GE; Webster AR
    Invest Ophthalmol Vis Sci; 2007 Sep; 48(9):4250-6. PubMed ID: 17724214
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Clinical and histopathological characteristics of a family with R1141X mutation of pseudoxanthoma elasticum - presymptomatic testing and lack of carrier phenotypes.
    Akoglu G; Li Q; Gokoz O; Gazyagci AS; Uitto J
    Int J Dermatol; 2014 Jun; 53(6):692-8. PubMed ID: 23675997
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.