BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

1337 related articles for article (PubMed ID: 10469327)

  • 1. Moderation of phenotypic severity in dystrophic and junctional forms of epidermolysis bullosa through in-frame skipping of exons containing non-sense or frameshift mutations.
    McGrath JA; Ashton GH; Mellerio JE; Salas-Alanis JC; Swensson O; McMillan JR; Eady RA
    J Invest Dermatol; 1999 Sep; 113(3):314-21. PubMed ID: 10469327
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Compound heterozygosity for a recessive glycine substitution and a splice site mutation in the COL7A1 gene causes an unusually mild form of localized recessive dystrophic epidermolysis bullosa.
    Terracina M; Posteraro P; Schubert M; Sonego G; Atzori F; Zambruno G; Bruckner-Tuderman L; Castiglia D
    J Invest Dermatol; 1998 Nov; 111(5):744-50. PubMed ID: 9804332
    [TBL] [Abstract][Full Text] [Related]  

  • 3. A recurrent frameshift mutation in exon 19 of the type VII collagen gene (COL7A1) in Mexican patients with recessive dystrophic epidermolysis bullosa.
    Mellerio JE; Salas-Alanis JC; Amaya-Guerra M; Tamez E; Ashton GH; Mohammedi R; Eady RA; McGrath JA
    Exp Dermatol; 1999 Feb; 8(1):22-9. PubMed ID: 10206718
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Molecular basis of the dystrophic and junctional forms of epidermolysis bullosa: mutations in the type VII collagen and kalinin (laminin 5) genes.
    Uitto J; Pulkkinen L; Christiano AM
    J Invest Dermatol; 1994 Nov; 103(5 Suppl):39S-46S. PubMed ID: 7963683
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Mutation analysis and molecular genetics of epidermolysis bullosa.
    Pulkkinen L; Uitto J
    Matrix Biol; 1999 Feb; 18(1):29-42. PubMed ID: 10367729
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Clinicopathological correlations of compound heterozygous COL7A1 mutations in recessive dystrophic epidermolysis bullosa.
    Dunnill MG; McGrath JA; Richards AJ; Christiano AM; Uitto J; Pope FM; Eady RA
    J Invest Dermatol; 1996 Aug; 107(2):171-7. PubMed ID: 8757758
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Immunohistochemical analysis of the skin in junctional epidermolysis bullosa using laminin 5 chain specific antibodies is of limited value in predicting the underlying gene mutation.
    McMillan JR; McGrath JA; Pulkkinen L; Kon A; Burgeson RE; Ortonne JP; Meneguzzi G; Uitto J; Eady RA
    Br J Dermatol; 1997 Jun; 136(6):817-22. PubMed ID: 9217810
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Targeted Exon Skipping Restores Type VII Collagen Expression and Anchoring Fibril Formation in an In Vivo RDEB Model.
    Turczynski S; Titeux M; Tonasso L; Décha A; Ishida-Yamamoto A; Hovnanian A
    J Invest Dermatol; 2016 Dec; 136(12):2387-2395. PubMed ID: 27498345
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. Characterization of mutations of the type VII collagen gene (COL7A1) in recessive dystrophic epidermolysis bullosa mitis (M-RDEB) from three Korean patients.
    Ryoo YW; Kim BC; Lee KS
    J Dermatol Sci; 2001 Jun; 26(2):125-32. PubMed ID: 11378329
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Modulation of disease severity of dystrophic epidermolysis bullosa by a splice site mutation in combination with a missense mutation in the COL7A1 gene.
    Winberg JO; Hammami-Hauasli N; Nilssen O; Anton-Lamprecht I; Naylor SL; Kerbacher K; Zimmermann M; Krajci P; Gedde-Dahl T; Bruckner-Tuderman L
    Hum Mol Genet; 1997 Jul; 6(7):1125-35. PubMed ID: 9215684
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Premature termination codons on both alleles of the type VII collagen gene (COL7A1) in three brothers with recessive dystrophic epidermolysis bullosa.
    Christiano AM; Suga Y; Greenspan DS; Ogawa H; Uitto J
    J Clin Invest; 1995 Mar; 95(3):1328-34. PubMed ID: 7883979
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Structural variations in anchoring fibrils in dystrophic epidermolysis bullosa: correlation with type VII collagen expression.
    McGrath JA; Ishida-Yamamoto A; O'Grady A; Leigh IM; Eady RA
    J Invest Dermatol; 1993 Apr; 100(4):366-72. PubMed ID: 8454899
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Compound heterozygosity for a dominant glycine substitution and a recessive internal duplication mutation in the type XVII collagen gene results in junctional epidermolysis bullosa and abnormal dentition.
    McGrath JA; Gatalica B; Li K; Dunnill MG; McMillan JR; Christiano AM; Eady RA; Uitto J
    Am J Pathol; 1996 Jun; 148(6):1787-96. PubMed ID: 8669466
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Frameshift mutations in the type VII collagen gene (COL7A1) in five Mexican cousins with recessive dystrophic epidermolysis bullosa.
    Salas-Alanis JC; Mellerio JE; Amaya-Guerra M; Ashton GH; Eady RA; McGrath JA
    Br J Dermatol; 1998 May; 138(5):852-8. PubMed ID: 9666834
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Epidermolysis bullosa. II. Type VII collagen mutations and phenotype-genotype correlations in the dystrophic subtypes.
    Varki R; Sadowski S; Uitto J; Pfendner E
    J Med Genet; 2007 Mar; 44(3):181-92. PubMed ID: 16971478
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Three homozygous PTC mutations in the collagen type VII gene of patients affected by recessive dystrophic epidermolysis bullosa: analysis of transcript levels in dermal fibroblasts.
    Gardella R; Zoppi N; Ferraboli S; Marini D; Tadini G; Barlati S; Colombi M
    Hum Mutat; 1999; 13(6):439-52. PubMed ID: 10408773
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Pretibial dystrophic epidermolysis bullosa: a recessively inherited COL7A1 splice site mutation affecting procollagen VII processing.
    Betts CM; Posteraro P; Costa AM; Varotti C; Schubert M; Bruckner-Tuderman L; Castiglia D
    Br J Dermatol; 1999 Nov; 141(5):833-9. PubMed ID: 10583163
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Compound heterozygosity for nonsense and missense mutations in the LAMB3 gene in nonlethal junctional epidermolysis bullosa.
    Christiano AM; Pulkkinen L; Eady RA; Uitto J
    J Invest Dermatol; 1996 Apr; 106(4):775-7. PubMed ID: 8618020
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Compound heterozygosity for nonsense ans missense mutations in the LAMB3 gene in nonlethal junctional epidermolysis bullosa.
    McGarth JA; Christiano AM; Pulkkinen L; Eady RA; Uitto J
    J Invest Dermatol; 1996 May; 106(5):1157-9. PubMed ID: 8618058
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 67.