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 *

288 related articles for article (PubMed ID: 28365758)

  • 1. Amino acid duplication in the coiled-coil structure of collagen XVII alters its maturation and trimerization causing mild junctional epidermolysis bullosa.
    Kroeger JK; Hofmann SC; Leppert J; Has C; Franzke CW
    Hum Mol Genet; 2017 Feb; 26(3):479-488. PubMed ID: 28365758
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Coiled coils ensure the physiological ectodomain shedding of collagen XVII.
    Nishie W; Jackow J; Hofmann SC; Franzke CW; Bruckner-Tuderman L
    J Biol Chem; 2012 Aug; 287(35):29940-8. PubMed ID: 22761443
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Identification of a Novel COL17A1 Compound Heterozygous Mutation in a Chinese Girl with Non-Herlitz Junctional Epidermolysis Bullosa.
    Yao YY; Zhang Y; Xie XH; Chen L; Zhu F; Zhou M
    Curr Med Sci; 2020 Aug; 40(4):795-800. PubMed ID: 32862392
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Amino acid substitution in the C-terminal domain of collagen XVII reduces laminin-332 interaction causing mild skin fragility with atrophic scarring.
    Kroeger J; Hoppe E; Galiger C; Has C; Franzke CW
    Matrix Biol; 2019 Jul; 80():72-84. PubMed ID: 30316981
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Molecular mechanisms of phenotypic variability in junctional epidermolysis bullosa.
    Kiritsi D; Kern JS; Schumann H; Kohlhase J; Has C; Bruckner-Tuderman L
    J Med Genet; 2011 Jul; 48(7):450-7. PubMed ID: 21357940
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Autosomal dominant junctional epidermolysis bullosa.
    Almaani N; Liu L; Dopping-Hepenstal PJ; Lovell PA; Lai-Cheong JE; Graham RM; Mellerio JE; McGrath JA
    Br J Dermatol; 2009 May; 160(5):1094-7. PubMed ID: 19120338
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Molecular mechanisms of junctional epidermolysis bullosa: Col 15 domain mutations decrease the thermal stability of collagen XVII.
    Väisänen L; Has C; Franzke C; Hurskainen T; Tuomi ML; Bruckner-Tuderman L; Tasanen K
    J Invest Dermatol; 2005 Dec; 125(6):1112-8. PubMed ID: 16354180
    [TBL] [Abstract][Full Text] [Related]  

  • 8. A Silent COL17A1 Variant Alters Splicing and Causes Junctional Epidermolysis Bullosa.
    Hoffmann J; Casetti F; Reimer A; Leppert J; Grüninger G; Has C
    Acta Derm Venereol; 2019 Apr; 99(4):460-461. PubMed ID: 30673110
    [No Abstract]   [Full Text] [Related]  

  • 9. Hemizygosity for a glycine substitution in collagen XVII: unfolding and degradation of the ectodomain.
    Tasanen K; Floeth M; Schumann H; Bruckner-Tuderman L
    J Invest Dermatol; 2000 Aug; 115(2):207-12. PubMed ID: 10951237
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Localized and generalized forms of blistering in junctional epidermolysis bullosa due to COL17A1 mutations in the Netherlands.
    Pasmooij AM; Pas HH; Jansen GH; Lemmink HH; Jonkman MF
    Br J Dermatol; 2007 May; 156(5):861-70. PubMed ID: 17263807
    [TBL] [Abstract][Full Text] [Related]  

  • 11. C-terminal truncation impairs glycosylation of transmembrane collagen XVII and leads to intracellular accumulation.
    Franzke CW; Has C; Schulte C; Huilaja L; Tasanen K; Aumailley M; Bruckner-Tuderman L
    J Biol Chem; 2006 Oct; 281(40):30260-8. PubMed ID: 16899459
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Digenic junctional epidermolysis bullosa: mutations in COL17A1 and LAMB3 genes.
    Floeth M; Bruckner-Tuderman L
    Am J Hum Genet; 1999 Dec; 65(6):1530-7. PubMed ID: 10577906
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Collagen XVII Processing and Blistering Skin Diseases.
    Nishie W
    Acta Derm Venereol; 2020 Feb; 100(5):adv00054. PubMed ID: 32039455
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Collagen XVII.
    Has C; Kern JS
    Dermatol Clin; 2010 Jan; 28(1):61-6. PubMed ID: 19945617
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Shedding of collagen XVII/BP180: structural motifs influence cleavage from cell surface.
    Franzke CW; Tasanen K; Borradori L; Huotari V; Bruckner-Tuderman L
    J Biol Chem; 2004 Jun; 279(23):24521-9. PubMed ID: 15047704
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Bullous pemphigoid in a patient with suspected non-Herlitz junctional epidermolysis bullosa.
    Pérez A; Almaani N; Stefanato CM; BhogaL B; Groves RW; Mellerio JE; McGrath JA
    Clin Exp Dermatol; 2010 Dec; 35(8):881-4. PubMed ID: 20456391
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Features of epidermolysis bullosa simplex due to mutations in the ectodomain of type XVII collagen.
    Pasmooij AM; van der Steege G; Pas HH; Smitt JH; Nijenhuis AM; Zuiderveen J; Jonkman MF
    Br J Dermatol; 2004 Sep; 151(3):669-74. PubMed ID: 15377356
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Dermal eosinophilic infiltrate in junctional epidermolysis bullosa.
    Saraiya A; Yang CS; Kim J; Bercovitch L; Robinson-Bostom L; Telang G
    J Cutan Pathol; 2015 Aug; 42(8):559-63. PubMed ID: 25950805
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Deletion of the cytoplasmatic domain of BP180/collagen XVII causes a phenotype with predominant features of epidermolysis bullosa simplex.
    Huber M; Floeth M; Borradori L; Schäcke H; Rugg EL; Lane EB; Frenk E; Hohl D; Bruckner-Tuderman L
    J Invest Dermatol; 2002 Jan; 118(1):185-92. PubMed ID: 11851893
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Collagen XVII/BP180: a collagenous transmembrane protein and component of the dermoepidermal anchoring complex.
    Powell AM; Sakuma-Oyama Y; Oyama N; Black MM
    Clin Exp Dermatol; 2005 Nov; 30(6):682-7. PubMed ID: 16197389
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 15.