BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

227 related articles for article (PubMed ID: 34643242)

  • 21. Reprogramming of keratin biosynthesis by sulforaphane restores skin integrity in epidermolysis bullosa simplex.
    Kerns ML; DePianto D; Dinkova-Kostova AT; Talalay P; Coulombe PA
    Proc Natl Acad Sci U S A; 2007 Sep; 104(36):14460-5. PubMed ID: 17724334
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Mutation analysis of the entire keratin 5 and 14 genes in patients with epidermolysis bullosa simplex and identification of novel mutations.
    Schuilenga-Hut PH; Vlies Pv; Jonkman MF; Waanders E; Buys CH; Scheffer H
    Hum Mutat; 2003 Apr; 21(4):447. PubMed ID: 12655565
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Proteasome-mediated degradation of keratins 7, 8, 17 and 18 by mutant KLHL24 in a foetal keratinocyte model: Novel insight in congenital skin defects and fragility of epidermolysis bullosa simplex with cardiomyopathy.
    Logli E; Marzuolo E; D'Agostino M; Conti LA; Lena AM; Diociaiuti A; Dellambra E; Has C; Cianfanelli V; Zambruno G; El Hachem M; Magenta A; Candi E; Condorelli AG
    Hum Mol Genet; 2022 Apr; 31(8):1308-1324. PubMed ID: 34740256
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Point mutations in human keratin 14 genes of epidermolysis bullosa simplex patients: genetic and functional analyses.
    Coulombe PA; Hutton ME; Letai A; Hebert A; Paller AS; Fuchs E
    Cell; 1991 Sep; 66(6):1301-11. PubMed ID: 1717157
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Epidermolysis bullosa simplex in Scotland caused by a spectrum of keratin mutations.
    Rugg EL; Horn HM; Smith FJ; Wilson NJ; Hill AJ; Magee GJ; Shemanko CS; Baty DU; Tidman MJ; Lane EB
    J Invest Dermatol; 2007 Mar; 127(3):574-80. PubMed ID: 17039244
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Keratin mutations of epidermolysis bullosa simplex alter the kinetics of stress response to osmotic shock.
    D'Alessandro M; Russell D; Morley SM; Davies AM; Lane EB
    J Cell Sci; 2002 Nov; 115(Pt 22):4341-51. PubMed ID: 12376565
    [TBL] [Abstract][Full Text] [Related]  

  • 27. A keratin 14 'knockout' mutation in recessive epidermolysis bullosa simplex resulting in less severe disease.
    Batta K; Rugg EL; Wilson NJ; West N; Goodyear H; Lane EB; Gratian M; Dopping-Hepenstal P; Moss C; Eady RA
    Br J Dermatol; 2000 Sep; 143(3):621-7. PubMed ID: 10971341
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Novel keratin 14 gene mutations in patients from Hungary with epidermolysis bullosa simplex.
    Csikós M; Szalai Z; Becker K; Sebõk B; Schneider I; Horváth A; Kárpáti S
    Exp Dermatol; 2004 Mar; 13(3):185-91. PubMed ID: 14987259
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Defining keratin protein function in skin epithelia: epidermolysis bullosa simplex and its aftermath.
    Coulombe PA; Lee CH
    J Invest Dermatol; 2012 Mar; 132(3 Pt 2):763-75. PubMed ID: 22277943
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Epidermolysis bullosa simplex (Dowling-Meara type) is a genetic disease characterized by an abnormal keratin-filament network involving keratins K5 and K14.
    Ishida-Yamamoto A; McGrath JA; Chapman SJ; Leigh IM; Lane EB; Eady RA
    J Invest Dermatol; 1991 Dec; 97(6):959-68. PubMed ID: 1721080
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Cytokines as genetic modifiers in K5-/- mice and in human epidermolysis bullosa simplex.
    Roth W; Reuter U; Wohlenberg C; Bruckner-Tuderman L; Magin TM
    Hum Mutat; 2009 May; 30(5):832-41. PubMed ID: 19267394
    [TBL] [Abstract][Full Text] [Related]  

  • 32. An ex vivo RNA trans-splicing strategy to correct human generalized severe epidermolysis bullosa simplex.
    Peking P; Breitenbach JS; Ablinger M; Muss WH; Poetschke FJ; Kocher T; Koller U; Hainzl S; Kitzmueller S; Bauer JW; Reichelt J; Lettner T; Wally V
    Br J Dermatol; 2019 Jan; 180(1):141-148. PubMed ID: 30099737
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Epidermolysis bullosa simplex: recurrent and de novo mutations in the KRT5 and KRT14 genes, phenotype/genotype correlations, and implications for genetic counseling and prenatal diagnosis.
    Pfendner EG; Sadowski SG; Uitto J
    J Invest Dermatol; 2005 Aug; 125(2):239-43. PubMed ID: 16098032
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Two novel recessive mutations in KRT14 identified in a cohort of 21 Spanish families with epidermolysis bullosa simplex.
    García M; Santiago JL; Terrón A; Hernández-Martín A; Vicente A; Fortuny C; De Lucas R; López JC; Cuadrado-Corrales N; Holguín A; Illera N; Duarte B; Sánchez-Jimeno C; Llames S; García E; Ayuso C; Martínez-Santamaría L; Castiglia D; De Luca N; Torrelo A; Mechan D; Baty D; Zambruno G; Escámez MJ; Del Río M
    Br J Dermatol; 2011 Sep; 165(3):683-92. PubMed ID: 21623745
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Epidermolysis bullosa simplex.
    Coulombe PA; Fuchs E
    Semin Dermatol; 1993 Sep; 12(3):173-90. PubMed ID: 7692916
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Treatment of keratinocytes with 4-phenylbutyrate in epidermolysis bullosa: Lessons for therapies in keratin disorders.
    Spörrer M; Prochnicki A; Tölle RC; Nyström A; Esser PR; Homberg M; Athanasiou I; Zingkou E; Schilling A; Gerum R; Thievessen I; Winter L; Bruckner-Tuderman L; Fabry B; Magin TM; Dengjel J; Schröder R; Kiritsi D
    EBioMedicine; 2019 Jun; 44():502-515. PubMed ID: 31078522
    [TBL] [Abstract][Full Text] [Related]  

  • 37. ERK involvement in resistance to apoptosis in keratinocytes with mutant keratin.
    Russell D; Ross H; Lane EB
    J Invest Dermatol; 2010 Mar; 130(3):671-81. PubMed ID: 19847192
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Verrucous carcinoma in epidermolysis bullosa simplex is possibly associated with a novel mutation in the keratin 5 gene.
    Schumann H; Roth W; Has C; Volz A; Erfurt-Berge C; Magin TM; Bruckner-Tuderman L
    Br J Dermatol; 2012 Oct; 167(4):929-36. PubMed ID: 22639907
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Primers for exon-specific amplification of the KRT5 gene: identification of novel and recurrent mutations in epidermolysis bullosa simplex patients.
    Stephens K; Ehrlich P; Weaver M; Le R; Spencer A; Sybert VP
    J Invest Dermatol; 1997 Mar; 108(3):349-53. PubMed ID: 9036937
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Severe epidermolysis bullosa simplex phenotype caused by codominant mutations p.Ile377Thr in keratin 14 and p.Gly138Glu in keratin 5.
    Bchetnia M; Allard JP; Boucher-Lafleur AM; Cruz Marino T; Dupéré A; Powell J; McCuaig C; Bernier MÈ; Laprise C
    Exp Dermatol; 2020 Oct; 29(10):961-969. PubMed ID: 32885477
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 12.