These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

223 related articles for article (PubMed ID: 30805891)

  • 1. Whole exome sequencing identified three ABCC6 variants in two Pakistani families with pseudoxanthoma elasticum phenotype.
    Khan FF; Erfan M; Kanwal N; Naeem M
    Mol Biol Rep; 2019 Feb; 46(1):1363-1368. PubMed ID: 30805891
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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; 83(2):140-7. PubMed ID: 15723264
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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; 289(5):709-725. PubMed ID: 33107650
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Genetic heterogeneity of pseudoxanthoma elasticum: the Chinese signature profile of ABCC6 and ENPP1 mutations.
    Jin L; Jiang Q; Wu Z; Shao C; Zhou Y; Yang L; Uitto J; Wang G
    J Invest Dermatol; 2015 May; 135(5):1294-1302. PubMed ID: 25615550
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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; 110(50):20206-11. PubMed ID: 24277820
    [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. [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]  

  • 8. 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]  

  • 9. 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; 43(12):1171-6. PubMed ID: 15645653
    [TBL] [Abstract][Full Text] [Related]  

  • 10. ABCC6 mutations in Italian families affected by pseudoxanthoma elasticum (PXE).
    Gheduzzi D; Guidetti R; Anzivino C; Tarugi P; Di Leo E; Quaglino D; Ronchetti IP
    Hum Mutat; 2004 Nov; 24(5):438-9. PubMed ID: 15459974
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. 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]  

  • 15. Mutations in ABCC6 cause pseudoxanthoma elasticum.
    Bergen AA; Plomp AS; Schuurman EJ; Terry S; Breuning M; Dauwerse H; Swart J; Kool M; van Soest S; Baas F; ten Brink JB; de Jong PT
    Nat Genet; 2000 Jun; 25(2):228-31. PubMed ID: 10835643
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Mutation detection in the ABCC6 gene and genotype-phenotype analysis in a large international case series affected by pseudoxanthoma elasticum.
    Pfendner EG; Vanakker OM; Terry SF; Vourthis S; McAndrew PE; McClain MR; Fratta S; Marais AS; Hariri S; Coucke PJ; Ramsay M; Viljoen D; Terry PF; De Paepe A; Uitto J; Bercovitch LG
    J Med Genet; 2007 Oct; 44(10):621-8. PubMed ID: 17617515
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Novel mutations in the ABCC6 gene of German patients with pseudoxanthoma elasticum.
    Schulz V; Hendig D; Szliska C; Götting C; Kleesiek K
    Hum Biol; 2005 Jun; 77(3):367-84. PubMed ID: 16392638
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. 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; 18(7):. PubMed ID: 28696355
    [TBL] [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; 79(9):536-46. PubMed ID: 11692167
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 12.