BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

202 related articles for article (PubMed ID: 29689068)

  • 1. Role of the keratin 1 and keratin 10 tails in the pathogenesis of ichthyosis hystrix of Curth Macklin.
    Terrinoni A; Didona B; Caporali S; Chillemi G; Lo Surdo A; Paradisi M; Annichiarico-Petruzzelli M; Candi E; Bernardini S; Melino G
    PLoS One; 2018; 13(4):e0195792. PubMed ID: 29689068
    [TBL] [Abstract][Full Text] [Related]  

  • 2. A novel frameshift truncation mutation in the V2 tail domain of KRT1 causes mild ichthyosis hystrix of Curth-Macklin.
    Yang Z; Xu Z; Zhang N; Ma L
    Clin Exp Dermatol; 2020 Aug; 45(6):719-721. PubMed ID: 32049370
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Ichthyosis hystrix Lambert type and Curth-Macklin type are a single entity with affected (KRT1 mutation) or unaffected (KRT10 mutation) palms and soles?
    Wang WH; Zhang L; Li LF; Sun TT
    Eur J Dermatol; 2016 Oct; 26(5):493-495. PubMed ID: 27212473
    [No Abstract]   [Full Text] [Related]  

  • 4. Ichthyosis hystrix, Curth-Macklin type: a new sporadic case with a novel mutation of keratin 1.
    Kubo Y; Urano Y; Matsuda R; Ishigami T; Murao K; Arase S; Ishida-Yamamoto A
    Arch Dermatol; 2011 Aug; 147(8):999-1001. PubMed ID: 21844476
    [No Abstract]   [Full Text] [Related]  

  • 5. A novel mutation and large size polymorphism affecting the V2 domain of keratin 1 in an African-American family with severe, diffuse palmoplantar keratoderma of the ichthyosis hystrix Curth-Macklin type.
    Richardson ES; Lee JB; Hyde PH; Richard G
    J Invest Dermatol; 2006 Jan; 126(1):79-84. PubMed ID: 16417221
    [TBL] [Abstract][Full Text] [Related]  

  • 6. A severe familial phenotype of Ichthyosis Curth-Macklin caused by a novel mutation in the KRT1 gene.
    Fonseca DJ; Rojas RF; Vergara JI; Ríos X; Uribe C; Chávez L; Velandia F; Vargas CI; Restrepo CM; Laissue P
    Br J Dermatol; 2013 Feb; 168(2):456-8. PubMed ID: 22834809
    [No Abstract]   [Full Text] [Related]  

  • 7. Transcriptomic analysis of skin in a case of ichthyosis Curth-Macklin caused by a KRT1 mutation.
    Ortega-Recalde O; Silgado D; Fetiva C; Fonseca DJ; Laissue P
    Br J Dermatol; 2016 Dec; 175(6):1372-1375. PubMed ID: 27518765
    [No Abstract]   [Full Text] [Related]  

  • 8. Ichthyosis hystrix Curth-Macklin type in an African girl.
    Yusuf SM; Mijinyawa MS; Maiyaki MB; Mohammed AZ
    Int J Dermatol; 2009 Dec; 48(12):1343-5. PubMed ID: 20415675
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Expanding the Mutation Spectrum of Ichthyosis with Confetti.
    Lim YH; Choate KA
    J Invest Dermatol; 2016 Oct; 136(10):1941-1943. PubMed ID: 27664712
    [TBL] [Abstract][Full Text] [Related]  

  • 10. A de novo variant in the keratin 1 gene (KRT1) in a Chinese shar-pei dog with severe congenital cornification disorder and non-epidermolytic ichthyosis.
    Affolter VK; Kiener S; Jagannathan V; Nagle T; Leeb T
    PLoS One; 2022; 17(10):e0275367. PubMed ID: 36251712
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Post Zygotic, Somatic, Deletion in KERATIN 1 V1 Domain Generates Structural Alteration of the K1/K10 Dimer, Producing a Monolateral Palmar Epidermolytic Nevus.
    Caporali S; Didona B; Paradisi M; Mauriello A; Campione E; Falconi M; Iacovelli F; Minieri M; Pieri M; Bernardini S; Terrinoni A
    Int J Mol Sci; 2021 Jun; 22(13):. PubMed ID: 34199056
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Nonsense mutations in KRT1 caused recessive epidermolytic palmoplantar keratoderma with knuckle pads.
    Mo R; Lin M; Lee M; Yan W; Wang H; Lin Z
    J Eur Acad Dermatol Venereol; 2022 Oct; 36(10):1857-1862. PubMed ID: 35490383
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Novel and recurrent mutations in keratin 1 cause epidermolytic ichthyosis and palmoplantar keratoderma.
    Smith FJD; Kreuser-Genis IM; Jury CS; Wilson NJ; Terron-Kwiatowski A; Zamiri M
    Clin Exp Dermatol; 2019 Jul; 44(5):528-534. PubMed ID: 30288772
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Evidence for novel functions of the keratin tail emerging from a mutation causing ichthyosis hystrix.
    Sprecher E; Ishida-Yamamoto A; Becker OM; Marekov L; Miller CJ; Steinert PM; Neldner K; Richard G
    J Invest Dermatol; 2001 Apr; 116(4):511-9. PubMed ID: 11286616
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Epidermolytic hyperkeratosis and epidermolysis bullosa simplex caused by frameshift mutations altering the v2 tail domains of keratin 1 and keratin 5.
    Sprecher E; Yosipovitch G; Bergman R; Ciubutaro D; Indelman M; Pfendner E; Goh LC; Miller CJ; Uitto J; Richard G
    J Invest Dermatol; 2003 Apr; 120(4):623-6. PubMed ID: 12648226
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Expanding the Clinical and Genetic Spectrum of KRT1, KRT2 and KRT10 Mutations in Keratinopathic Ichthyosis.
    Hotz A; Oji V; Bourrat E; Jonca N; Mazereeuw-Hautier J; Betz RC; Blume-Peytavi U; Stieler K; Morice-Picard F; Schönbuchner I; Markus S; Schlipf N; Fischer J
    Acta Derm Venereol; 2016 May; 96(4):473-8. PubMed ID: 26581228
    [TBL] [Abstract][Full Text] [Related]  

  • 17. A unique pattern of dyskeratosis characterizes epidermolytic hyperkeratosis and epidermolytic palmoplantar keratoderma.
    Bergman R; Khamaysi Z; Sprecher E
    Am J Dermatopathol; 2008 Apr; 30(2):101-5. PubMed ID: 18360110
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Epidermolytic Ichthyosis Sine Epidermolysis.
    Eskin-Schwartz M; Drozhdina M; Sarig O; Gat A; Jackman T; Isakov O; Shomron N; Samuelov L; Malchin N; Peled A; Vodo D; Hovnanian A; Ruzicka T; Koshkin S; Harmon RM; Koetsier JL; Green KJ; Paller AS; Sprecher E
    Am J Dermatopathol; 2017 Jun; 39(6):440-444. PubMed ID: 28121638
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Frequent somatic reversion of KRT1 mutations in ichthyosis with confetti.
    Choate KA; Lu Y; Zhou J; Elias PM; Zaidi S; Paller AS; Farhi A; Nelson-Williams C; Crumrine D; Milstone LM; Lifton RP
    J Clin Invest; 2015 Apr; 125(4):1703-7. PubMed ID: 25774499
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Two cases of KRT1 mutation-associated epidermolytic ichthyosis without typical epidermolytic hyperkeratosis in the neonatal skin lesions.
    Kim T; Kim SC; Lee SE
    Pediatr Dermatol; 2023; 40(6):1149-1151. PubMed ID: 37170713
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.