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 *

215 related articles for article (PubMed ID: 32873932)

  • 1. Reassessment of causality of ABCC6 missense variants associated with pseudoxanthoma elasticum based on Sherloc.
    Verschuere S; Navassiolava N; Martin L; Nevalainen PI; Coucke PJ; Vanakker OM
    Genet Med; 2021 Jan; 23(1):131-139. PubMed ID: 32873932
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. 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]  

  • 4. Commentary on Variants in the ABCC6 Gene Implicated in Pseudoxanthoma Elasticum, a Heritable Ectopic Mineralization Disorder.
    Zheng A; Thibodeau PH
    J Invest Dermatol; 2022 Apr; 142(4):1002-1003. PubMed ID: 35331386
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. 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]  

  • 7. 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]  

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

  • 9. 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]  

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

  • 11. 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]  

  • 12. 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]  

  • 13. 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]  

  • 14. 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]  

  • 15. 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]  

  • 16. 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]  

  • 17. 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]  

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

  • 19. 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]  

  • 20. 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]  

    [Next]    [New Search]
    of 11.