BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

208 related articles for article (PubMed ID: 9457913)

  • 1. Cycloheximide facilitates the identification of aberrant transcripts resulting from a novel splice-site mutation in COL17A1 in a patient with generalized atrophic benign epidermolysis bullosa.
    Darling TN; Yee C; Koh B; McGrath JA; Bauer JW; Uitto J; Hintner H; Yancey KB
    J Invest Dermatol; 1998 Feb; 110(2):165-9. PubMed ID: 9457913
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Compound heterozygosity for novel splice site mutations in the BPAG2/COL17A1 gene underlies generalized atrophic benign epidermolysis bullosa.
    Pulkkinen L; Marinkovich MP; Tran HT; Lin L; Herron GS; Uitto J
    J Invest Dermatol; 1999 Dec; 113(6):1114-8. PubMed ID: 10636730
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Comprehensive analysis of gene expression profiles in keratinocytes from patients with generalized atrophic benign epidermolysis bullosa.
    Huber A; Yee C; Darling TN; Yancey KB
    Exp Dermatol; 2002 Feb; 11(1):75-81. PubMed ID: 11952829
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Premature termination codons are present on both alleles of the bullous pemphigoid antigen 2/type XVII collagen gene in five Austrian families with generalized atrophic benign epidermolysis bullosa.
    Darling TN; McGrath JA; Yee C; Gatalica B; Hametner R; Bauer JW; Pohla-Gubo G; Christiano AM; Uitto J; Hintner H; Yancey KB
    J Invest Dermatol; 1997 Apr; 108(4):463-8. PubMed ID: 9077475
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Type XVII collagen gene mutations in junctional epidermolysis bullosa and prospects for gene therapy.
    Bauer JW; Lanschuetzer C
    Clin Exp Dermatol; 2003 Jan; 28(1):53-60. PubMed ID: 12558632
    [TBL] [Abstract][Full Text] [Related]  

  • 6. The 97 kDa linear IgA bullous dermatosis antigen is not expressed in a patient with generalized atrophic benign epidermolysis bullosa with a novel homozygous G258X mutation in COL17A1.
    Shimizu H; Takizawa Y; Pulkkinen L; Zone JJ; Matsumoto K; Saida T; Uitto J; Nishikawa T
    J Invest Dermatol; 1998 Nov; 111(5):887-92. PubMed ID: 9804354
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Revertant mosaicism: partial correction of a germ-line mutation in COL17A1 by a frame-restoring mutation.
    Darling TN; Yee C; Bauer JW; Hintner H; Yancey KB
    J Clin Invest; 1999 May; 103(10):1371-7. PubMed ID: 10330419
    [TBL] [Abstract][Full Text] [Related]  

  • 8. A founder COL17A1 splice site mutation leading to generalized atrophic benign epidermolysis bullosa in an extended inbred Palestinian family from Israel.
    Whittock NV; Sher C; Gold I; Libman V; Reish O
    Genet Med; 2003; 5(6):435-9. PubMed ID: 14614394
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Compound heterozygosity for a point mutation and a deletion located at splice acceptor sites in the LAMB3 gene leads to generalized atrophic benign epidermolysis bullosa.
    Takizawa Y; Hiraoka Y; Takahashi H; Ishiko A; Yasuraoka I; Hashimoto I; Aiso S; Nishikawa T; Shimizu H
    J Invest Dermatol; 2000 Aug; 115(2):312-6. PubMed ID: 10951252
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. 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]  

  • 12. Analysis of the COL17A1 in non-Herlitz junctional epidermolysis bullosa and amelogenesis imperfecta.
    Nakamura H; Sawamura D; Goto M; Nakamura H; Kida M; Ariga T; Sakiyama Y; Tomizawa K; Mitsui H; Tamaki K; Shimizu H
    Int J Mol Med; 2006 Aug; 18(2):333-7. PubMed ID: 16820943
    [TBL] [Abstract][Full Text] [Related]  

  • 13. A very mild form of non-Herlitz junctional epidermolysis bullosa: BP180 rescue by outsplicing of mutated exon 30 coding for the COL15 domain.
    Pasmooij AM; van Zalen S; Nijenhuis AM; Kloosterhuis AJ; Zuiderveen J; Jonkman MF; Pas HH
    Exp Dermatol; 2004 Feb; 13(2):125-8. PubMed ID: 15009107
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Truncated typeXVII collagen expression in a patient with non-herlitz junctional epidermolysis bullosa caused by a homozygous splice-site mutation.
    van Leusden MR; Pas HH; Gedde-Dahl T; Sonnenberg A; Jonkman MF
    Lab Invest; 2001 Jun; 81(6):887-94. PubMed ID: 11406649
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Novel homozygous and compound heterozygous COL17A1 mutations associated with junctional epidermolysis bullosa.
    Floeth M; Fiedorowicz J; Schäcke H; Hammami-Hausli N; Owaribe K; Trüeb RM; Bruckner-Tuderman L
    J Invest Dermatol; 1998 Sep; 111(3):528-33. PubMed ID: 9740252
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Compound heterozygosity for a nonsense mutation and a splice site mutation in the type VII collagen gene (COL7A1) in recessive dystrophic epidermolysis bullosa.
    Tamai K; Ishida-Yamamoto A; Matsuo S; Iizuka H; Hashimoto I; Christiano AM; Uitto J; McGrath JA
    Lab Invest; 1997 Feb; 76(2):209-17. PubMed ID: 9042157
    [TBL] [Abstract][Full Text] [Related]  

  • 17. American Academy of Dermatology 1997 Awards for Young Investigators in Dermatology. Mutational analysis of the bullous pemphigoid antigen 2/type XVII collagen gene in patients with generalized atrophic benign epidermolysis bullosa.
    Darling TN
    J Am Acad Dermatol; 1997 Nov; 37(5 Pt 1):773-4. PubMed ID: 9366826
    [No Abstract]   [Full Text] [Related]  

  • 18. A homozygous nonsense mutation in type XVII collagen gene (COL17A1) uncovers an alternatively spliced mRNA accounting for an unusually mild form of non-Herlitz junctional epidermolysis bullosa.
    Ruzzi L; Pas H; Posteraro P; Mazzanti C; Didona B; Owaribe K; Meneguzzi G; Zambruno G; Castiglia D; D'Alessio M
    J Invest Dermatol; 2001 Jan; 116(1):182-7. PubMed ID: 11168815
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. 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]  

    [Next]    [New Search]
    of 11.