BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

202 related articles for article (PubMed ID: 34116063)

  • 1. Genotype‒Structurotype‒Phenotype Correlations in Patients with Pachyonychia Congenita.
    Wu TT; Eldirany SA; Bunick CG; Teng JMC
    J Invest Dermatol; 2021 Dec; 141(12):2876-2884.e4. PubMed ID: 34116063
    [TBL] [Abstract][Full Text] [Related]  

  • 2. A spectrum of mutations in keratins K6a, K16 and K17 causing pachyonychia congenita.
    Liao H; Sayers JM; Wilson NJ; Irvine AD; Mellerio JE; Baselga E; Bayliss SJ; Uliana V; Fimiani M; Lane EB; McLean WH; Leachman SA; Smith FJ
    J Dermatol Sci; 2007 Dec; 48(3):199-205. PubMed ID: 17719747
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Gene expression profiling in pachyonychia congenita skin.
    Cao YA; Hickerson RP; Seegmiller BL; Grapov D; Gross MM; Bessette MR; Phinney BS; Flores MA; Speaker TJ; Vermeulen A; Bravo AA; Bruckner AL; Milstone LM; Schwartz ME; Rice RH; Kaspar RL
    J Dermatol Sci; 2015 Mar; 77(3):156-65. PubMed ID: 25656049
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Pachyonychia congenita: a case report.
    Kohli N
    Cutis; 2009 Nov; 84(5):269-71. PubMed ID: 20099620
    [TBL] [Abstract][Full Text] [Related]  

  • 5. The molecular genetic analysis of the expanding pachyonychia congenita case collection.
    Wilson NJ; O'Toole EA; Milstone LM; Hansen CD; Shepherd AA; Al-Asadi E; Schwartz ME; McLean WH; Sprecher E; Smith FJ
    Br J Dermatol; 2014 Aug; 171(2):343-55. PubMed ID: 24611874
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Pachyonychia congenita patients with mutations in KRT6A have more extensive disease compared with patients who have mutations in KRT16.
    Spaunhurst KM; Hogendorf AM; Smith FJ; Lingala B; Schwartz ME; Cywinska-Bernas A; Zeman KJ; Tang JY
    Br J Dermatol; 2012 Apr; 166(4):875-8. PubMed ID: 22098151
    [TBL] [Abstract][Full Text] [Related]  

  • 7. A new KRT16 mutation associated with a phenotype of pachyonychia congenita.
    Paris F; Hurtado C; Azón A; Aguado L; Vizmanos JL
    Exp Dermatol; 2013 Dec; 22(12):838-9. PubMed ID: 24118415
    [TBL] [Abstract][Full Text] [Related]  

  • 8. A review of the clinical phenotype of 254 patients with genetically confirmed pachyonychia congenita.
    Eliason MJ; Leachman SA; Feng BJ; Schwartz ME; Hansen CD
    J Am Acad Dermatol; 2012 Oct; 67(4):680-6. PubMed ID: 22264670
    [TBL] [Abstract][Full Text] [Related]  

  • 9. A large mutational study in pachyonychia congenita.
    Wilson NJ; Leachman SA; Hansen CD; McMullan AC; Milstone LM; Schwartz ME; McLean WH; Hull PR; Smith FJ
    J Invest Dermatol; 2011 May; 131(5):1018-24. PubMed ID: 21326300
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Pachyonychia congenita in pediatric patients: natural history, features, and impact.
    Shah S; Boen M; Kenner-Bell B; Schwartz M; Rademaker A; Paller AS
    JAMA Dermatol; 2014 Feb; 150(2):146-53. PubMed ID: 24132595
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Phenotype and genotype features of Vietnamese children with pachyonychia congenita.
    Chu HT; Dinh Duong TA; Le DH; Le TV; Nguyen BB; Dang CV; Vu QV
    Pediatr Neonatol; 2023 Jul; 64(4):405-410. PubMed ID: 36658016
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Pachyonychia congenita associated with median rhomboid glossitis.
    Karen JK; Schaffer JV
    Dermatol Online J; 2007 Jan; 13(1):21. PubMed ID: 17511954
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Proteomic profiling reveals KRT6C as a probable hereterodimer partner for KRT9: New insights into re-classifying epidermolytic palmoplantar keratoderma (EPPK) and a milder form of pachyonychia congenita (PC-K6c) as a group of genetic cutaneous disorders.
    Li P; Qi J; Zhong Y; Ding A; Xiao H
    J Proteomics; 2023 Sep; 287():104971. PubMed ID: 37467889
    [TBL] [Abstract][Full Text] [Related]  

  • 14. The phenotypic and molecular genetic features of pachyonychia congenita.
    McLean WH; Hansen CD; Eliason MJ; Smith FJ
    J Invest Dermatol; 2011 May; 131(5):1015-7. PubMed ID: 21430705
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Revisiting pachyonychia congenita: a case-cohort study of 815 patients.
    Samuelov L; Smith FJD; Hansen CD; Sprecher E
    Br J Dermatol; 2020 Mar; 182(3):738-746. PubMed ID: 31823354
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Identification of clinically useful predictive genetic variants in pachyonychia congenita.
    Samuelov L; Sarig O; Adir N; Pavlovsky M; Smith FJ; Schwartz J; Hansen CD; Sprecher E
    Clin Exp Dermatol; 2021 Jul; 46(5):867-873. PubMed ID: 33486795
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Novel and recurrent mutations in the genes encoding keratins K6a, K16 and K17 in 13 cases of pachyonychia congenita.
    Terrinoni A; Smith FJ; Didona B; Canzona F; Paradisi M; Huber M; Hohl D; David A; Verloes A; Leigh IM; Munro CS; Melino G; McLean WH
    J Invest Dermatol; 2001 Dec; 117(6):1391-6. PubMed ID: 11886499
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Rapamycin selectively inhibits expression of an inducible keratin (K6a) in human keratinocytes and improves symptoms in pachyonychia congenita patients.
    Hickerson RP; Leake D; Pho LN; Leachman SA; Kaspar RL
    J Dermatol Sci; 2009 Nov; 56(2):82-8. PubMed ID: 19699613
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Mutation of a type II keratin gene (K6a) in pachyonychia congenita.
    Bowden PE; Haley JL; Kansky A; Rothnagel JA; Jones DO; Turner RJ
    Nat Genet; 1995 Jul; 10(3):363-5. PubMed ID: 7545493
    [TBL] [Abstract][Full Text] [Related]  

  • 20. [Pachyonychia congenita. Keratin gene mutations with pleiotropic effect].
    Swensson O
    Hautarzt; 1999 Jul; 50(7):483-90. PubMed ID: 10464680
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.