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 *

366 related articles for article (PubMed ID: 33107650)

  • 1. 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]  

  • 2. 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]  

  • 3. Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6.
    Nitschke Y; Baujat G; Botschen U; Wittkampf T; du Moulin M; Stella J; Le Merrer M; Guest G; Lambot K; Tazarourte-Pinturier MF; Chassaing N; Roche O; Feenstra I; Loechner K; Deshpande C; Garber SJ; Chikarmane R; Steinmann B; Shahinyan T; Martorell L; Davies J; Smith WE; Kahler SG; McCulloch M; Wraige E; Loidi L; Höhne W; Martin L; Hadj-Rabia S; Terkeltaub R; Rutsch F
    Am J Hum Genet; 2012 Jan; 90(1):25-39. PubMed ID: 22209248
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. 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; 44(6):644-650. PubMed ID: 28186352
    [TBL] [Abstract][Full Text] [Related]  

  • 6. [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]  

  • 7. 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; 14():118-24. PubMed ID: 18253096
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Functional Assessment of Missense Variants in the ABCC6 Gene Implicated in Pseudoxanthoma Elasticum, a Heritable Ectopic Mineralization Disorder.
    Kowal L; Huang J; Luo H; Singh J; Snook AE; Uitto J; Li Q
    J Invest Dermatol; 2022 Apr; 142(4):1085-1093. PubMed ID: 34597610
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. 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]  

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

  • 12. An atypical case of SPG56/CYP2U1-related spastic paraplegia presenting with delayed myelination.
    Minase G; Miyatake S; Nabatame S; Arai H; Koshimizu E; Mizuguchi T; Nakashima M; Miyake N; Saitsu H; Miyamoto T; Sengoku K; Matsumoto N
    J Hum Genet; 2017 Nov; 62(11):997-1000. PubMed ID: 28725025
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. CYP2U1 activity is altered by missense mutations in hereditary spastic paraplegia 56.
    Durand CM; Dhers L; Tesson C; Tessa A; Fouillen L; Jacqueré S; Raymond L; Coupry I; Benard G; Darios F; El-Hachimi KH; Astrea G; Rivier F; Banneau G; Pujol C; Lacombe D; Durr A; Babin PJ; Santorelli FM; Pietrancosta N; Boucher JL; Mansuy D; Stevanin G; Goizet C
    Hum Mutat; 2018 Jan; 39(1):140-151. PubMed ID: 29034544
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. Mutation spectrum in the ABCC6 gene and genotype-phenotype correlations in a French cohort with pseudoxanthoma elasticum.
    Legrand A; Cornez L; Samkari W; Mazzella JM; Venisse A; Boccio V; Auribault K; Keren B; Benistan K; Germain DP; Frank M; Jeunemaitre X; Albuisson J
    Genet Med; 2017 Aug; 19(8):909-917. PubMed ID: 28102862
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Clinical and Genetic Heterogeneity in a Large Family with Pseudoxanthoma Elasticum: MTHFR and SERPINE1 Variants as Possible Disease Modifiers in Developing Ischemic Stroke.
    Bruno G; Ritelli M; Di Pietro A; Cipriano L; Colombi M; Lus G; Puoti G
    J Stroke Cerebrovasc Dis; 2021 Jun; 30(6):105744. PubMed ID: 33813081
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Heterozygosity for a single mutation in the ABCC6 gene may closely mimic PXE: consequences of this phenotype overlap for the definition of PXE.
    Martin L; Maître F; Bonicel P; Daudon P; Verny C; Bonneau D; Le Saux O; Chassaing N
    Arch Dermatol; 2008 Mar; 144(3):301-6. PubMed ID: 18347285
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 19.