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Journal Abstract Search

332 related items for PubMed ID: 30154241

  • 1. Structural analysis reveals pathomechanisms associated with pseudoxanthoma elasticum-causing mutations in the ABCC6 transporter.
    Ran Y, Zheng A, Thibodeau PH.
    J Biol Chem; 2018 Oct 12; 293(41):15855-15866. PubMed ID: 30154241
    [Abstract] [Full Text] [Related]

  • 2. Stabilization of Nucleotide Binding Domain Dimers Rescues ABCC6 Mutants Associated with Pseudoxanthoma Elasticum.
    Ran Y, Thibodeau PH.
    J Biol Chem; 2017 Feb 03; 292(5):1559-1572. PubMed ID: 27994049
    [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 03; 27(8):831. PubMed ID: 16835894
    [Abstract] [Full Text] [Related]

  • 4. Clustering of disease-causing mutations on the domain-domain interfaces of ABCC6.
    Fülöp K, Barna L, Symmons O, Závodszky P, Váradi A.
    Biochem Biophys Res Commun; 2009 Feb 13; 379(3):706-9. PubMed ID: 19133228
    [Abstract] [Full Text] [Related]

  • 5. 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 13; 11(3):215-24. PubMed ID: 12673275
    [Abstract] [Full Text] [Related]

  • 6. ABCC6 prevents ectopic mineralization seen in pseudoxanthoma elasticum by inducing cellular nucleotide release.
    Jansen RS, Küçükosmanoglu A, de Haas M, Sapthu S, Otero JA, Hegman IE, Bergen AA, Gorgels TG, Borst P, van de Wetering K.
    Proc Natl Acad Sci U S A; 2013 Dec 10; 110(50):20206-11. PubMed ID: 24277820
    [Abstract] [Full Text] [Related]

  • 7. 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 Dec 10; 42(5):424-32. PubMed ID: 16127278
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  • 10. Structural and Functional Characterization of the ABCC6 Transporter in Hepatic Cells: Role on PXE, Cancer Therapy and Drug Resistance.
    Bisaccia F, Koshal P, Abruzzese V, Castiglione Morelli MA, Ostuni A.
    Int J Mol Sci; 2021 Mar 11; 22(6):. PubMed ID: 33799762
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  • 12. [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
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  • 13. Severe early-onset manifestations of pseudoxanthoma elasticum resulting from the cumulative effects of several deleterious mutations in ENPP1, ABCC6 and HBB: transient improvement in ectopic calcification with sodium thiosulfate.
    Omarjee L, Nitschke Y, Verschuere S, Bourrat E, Vignon MD, Navasiolava N, Leftheriotis G, Kauffenstein G, Rutsch F, Vanakker OM, Martin L.
    Br J Dermatol; 2020 Aug 07; 183(2):367-372. PubMed ID: 31646622
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  • 14. 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 07; 79(9):536-46. PubMed ID: 11692167
    [Abstract] [Full Text] [Related]

  • 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. ABCC6 and Pseudoxanthoma Elasticum: The Face of a Rare Disease from Genetics to Advocacy.
    Moitra K, Garcia S, Jaldin M, Etoundi C, Cooper D, Roland A, Dixon P, Reyes S, Turan S, Terry S, Dean M.
    Int J Mol Sci; 2017 Jul 11; 18(7):. PubMed ID: 28696355
    [Abstract] [Full Text] [Related]

  • 17. 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 11; 122(3):608-13. PubMed ID: 15086542
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  • 18. Pseudoxanthoma elasticum overlaps hereditary spastic paraplegia type 56.
    Legrand A, Pujol C, Durand CM, Mesnil A, Rubera I, Duranton C, Zuily S, Sousa AB, Renaud M, Boucher JL, Pietrancosta N, Adham S, Orssaud C, Marelli C, Casali C, Ziccardi L, Villain N, Ewenczyk C, Durr A, Mignot C, Stevanin G, Billon C, Hureaux M, Jeunemaitre X, Goizet C, Albuisson J.
    J Intern Med; 2021 May 11; 289(5):709-725. PubMed ID: 33107650
    [Abstract] [Full Text] [Related]

  • 19. 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
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  • 20. ABCC6 mutations in pseudoxanthoma elasticum: an update including eight novel ones.
    Plomp AS, Florijn RJ, Ten Brink J, Castle B, Kingston H, Martín-Santiago A, Gorgels TG, de Jong PT, Bergen AA.
    Mol Vis; 2008 Jan 24; 14():118-24. PubMed ID: 18253096
    [Abstract] [Full Text] [Related]

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