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Journal Abstract Search

267 related items for PubMed ID: 12432991

  • 1. Pseudoxanthoma elasticum.
    Ohtani T, Furukawa F.
    J Dermatol; 2002 Oct; 29(10):615-20. PubMed ID: 12432991
    [Abstract] [Full Text] [Related]

  • 2. 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
    [Abstract] [Full Text] [Related]

  • 3. Pseudoxanthoma elasticum: a clinical, pathophysiological and genetic update including 11 novel ABCC6 mutations.
    Chassaing N, Martin L, Calvas P, Le Bert M, Hovnanian A.
    J Med Genet; 2005 Dec; 42(12):881-92. PubMed ID: 15894595
    [Abstract] [Full Text] [Related]

  • 4. Classic pseudoxanthoma elasticum in a girl with sickle cell disease.
    Mitre V, Brown D, Phung T, Hunt RD.
    Pediatr Dermatol; 2019 Jan; 36(1):e64-e65. PubMed ID: 30537162
    [Abstract] [Full Text] [Related]

  • 5. [From gene to disease; pseudoxanthoma elasticum and the ABCC6 gene].
    Bergen AA, Plomp AS, Gorgels TG, de Jong PT.
    Ned Tijdschr Geneeskd; 2004 Aug 07; 148(32):1586-9. PubMed ID: 15382558
    [Abstract] [Full Text] [Related]

  • 6. 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 Aug 07; 42(5):424-32. PubMed ID: 16127278
    [Abstract] [Full Text] [Related]

  • 7. Analysis of clinical symptoms and ABCC6 mutations in 76 Japanese patients with pseudoxanthoma elasticum.
    Iwanaga A, Okubo Y, Yozaki M, Koike Y, Kuwatsuka Y, Tomimura S, Yamamoto Y, Tamura H, Ikeda S, Maemura K, Tsuiki E, Kitaoka T, Endo Y, Mishima H, Yoshiura KI, Ogi T, Tanizaki H, Wataya-Kaneda M, Hattori T, Utani A.
    J Dermatol; 2017 Jun 07; 44(6):644-650. PubMed ID: 28186352
    [Abstract] [Full Text] [Related]

  • 8. 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 07; 26(3):235-48. PubMed ID: 16086317
    [Abstract] [Full Text] [Related]

  • 9. Proposal for updating the pseudoxanthoma elasticum classification system and a review of the clinical findings.
    Plomp AS, Toonstra J, Bergen AA, van Dijk MR, de Jong PT.
    Am J Med Genet A; 2010 Apr 07; 152A(4):1049-58. PubMed ID: 20358627
    [Abstract] [Full Text] [Related]

  • 10. Identification of two novel missense mutations (p.R1221C and p.R1357W) in the ABCC6 (MRP6) gene in a Japanese patient with pseudoxanthoma elasticum (PXE).
    Noji Y, Inazu A, Higashikata T, Nohara A, Kawashiri MA, Yu W, Todo Y, Nozue T, Uno Y, Hifumi S, Mabuchi H.
    Intern Med; 2004 Dec 07; 43(12):1171-6. PubMed ID: 15645653
    [Abstract] [Full Text] [Related]

  • 11. 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 07; 21(3):368-73. PubMed ID: 17309461
    [Abstract] [Full Text] [Related]

  • 12. New ABCC6 gene mutations in German pseudoxanthoma elasticum patients.
    Hendig D, Schulz V, Eichgrün J, Szliska C, Götting C, Kleesiek K.
    J Mol Med (Berl); 2005 Feb 07; 83(2):140-7. PubMed ID: 15723264
    [Abstract] [Full Text] [Related]

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  • 15. Pseudoxanthoma elasticum: clinical phenotypes, molecular genetics and putative pathomechanisms.
    Li Q, Jiang Q, Pfendner E, Váradi A, Uitto J.
    Exp Dermatol; 2009 Jan 07; 18(1):1-11. PubMed ID: 19054062
    [Abstract] [Full Text] [Related]

  • 16. Pseudoxanthoma elasticum-like phenotypes: more diseases than one.
    Uitto J, Jiang Q.
    J Invest Dermatol; 2007 Mar 07; 127(3):507-10. PubMed ID: 17299431
    [Abstract] [Full Text] [Related]

  • 17. Loss of ATP-dependent transport activity in pseudoxanthoma elasticum-associated mutants of human ABCC6 (MRP6).
    Iliás A, Urbán Z, Seidl TL, Le Saux O, Sinkó E, Boyd CD, Sarkadi B, Váradi A.
    J Biol Chem; 2002 May 10; 277(19):16860-7. PubMed ID: 11880368
    [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 10; 122(3):608-13. PubMed ID: 15086542
    [Abstract] [Full Text] [Related]

  • 19. Pseudoxanthoma elasticum: progress in diagnostics and research towards treatment : Summary of the 2010 PXE International Research Meeting.
    Uitto J, Bercovitch L, Terry SF, Terry PF.
    Am J Med Genet A; 2011 Jul 10; 155A(7):1517-26. PubMed ID: 21671388
    [Abstract] [Full Text] [Related]

  • 20. 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 10; 79(9):536-46. PubMed ID: 11692167
    [Abstract] [Full Text] [Related]

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