BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

171 related articles for article (PubMed ID: 9668111)

  • 1. Some, but not all, glycine substitution mutations in COL7A1 result in intracellular accumulation of collagen VII, loss of anchoring fibrils, and skin blistering.
    Hammami-Hauasli N; Schumann H; Raghunath M; Kilgus O; Lüthi U; Luger T; Bruckner-Tuderman L
    J Biol Chem; 1998 Jul; 273(30):19228-34. PubMed ID: 9668111
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Review of collagen VII sequence variants found in Australasian patients with dystrophic epidermolysis bullosa reveals nine novel COL7A1 variants.
    Dang N; Klingberg S; Marr P; Murrell DF
    J Dermatol Sci; 2007 Jun; 46(3):169-78. PubMed ID: 17425959
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. 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]  

  • 5. Mutation analysis and characterization of COL7A1 mutations in dystrophic epidermolysis bullosa.
    Dang N; Murrell DF
    Exp Dermatol; 2008 Jul; 17(7):553-68. PubMed ID: 18558993
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Transient bullous dermolysis of the newborn associated with compound heterozygosity for recessive and dominant COL7A1 mutations.
    Hammami-Hauasli N; Raghunath M; Küster W; Bruckner-Tuderman L
    J Invest Dermatol; 1998 Dec; 111(6):1214-9. PubMed ID: 9856844
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. Characterization of 18 new mutations in COL7A1 in recessive dystrophic epidermolysis bullosa provides evidence for distinct molecular mechanisms underlying defective anchoring fibril formation.
    Hovnanian A; Rochat A; Bodemer C; Petit E; Rivers CA; Prost C; Fraitag S; Christiano AM; Uitto J; Lathrop M; Barrandon Y; de Prost Y
    Am J Hum Genet; 1997 Sep; 61(3):599-610. PubMed ID: 9326325
    [TBL] [Abstract][Full Text] [Related]  

  • 9. A glycine-to-arginine substitution in the triple-helical domain of type VII collagen in a family with dominant dystrophic epidermolysis bullosa.
    Christiano AM; Morricone A; Paradisi M; Angelo C; Mazzanti C; Cavalieri R; Uitto J
    J Invest Dermatol; 1995 Mar; 104(3):438-40. PubMed ID: 7861014
    [TBL] [Abstract][Full Text] [Related]  

  • 10. A de novo glycine substitution mutation in the collagenous domain of COL7A1 in dominant dystrophic epidermolysis bullosa.
    Lee JY; Li C; Chao SC; Pulkkinen L; Uitto J
    Arch Dermatol Res; 2000 Apr; 292(4):159-63. PubMed ID: 10836608
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. Glycine substitutions in the triple-helical region of type VII collagen result in a spectrum of dystrophic epidermolysis bullosa phenotypes and patterns of inheritance.
    Christiano AM; McGrath JA; Tan KC; Uitto J
    Am J Hum Genet; 1996 Apr; 58(4):671-81. PubMed ID: 8644729
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Identical glycine substitution mutations in type VII collagen may underlie both dominant and recessive forms of dystrophic epidermolysis bullosa.
    Almaani N; Liu L; Dopping-Hepenstal PJ; Lai-Cheong JE; Wong A; Nanda A; Moss C; Martinéz AE; Mellerio JE; McGrath JA
    Acta Derm Venereol; 2011 May; 91(3):262-6. PubMed ID: 21448560
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Pretibial epidermolysis bullosa: genetic linkage to COL7A1 and identification of a glycine-to-cysteine substitution in the triple-helical domain of type VII collagen.
    Christiano AM; Lee JY; Chen WJ; LaForgia S; Uitto J
    Hum Mol Genet; 1995 Sep; 4(9):1579-83. PubMed ID: 8541842
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Biology of anchoring fibrils: lessons from dystrophic epidermolysis bullosa.
    Bruckner-Tuderman L; Höpfner B; Hammami-Hauasli N
    Matrix Biol; 1999 Feb; 18(1):43-54. PubMed ID: 10367730
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Dominant dystrophic epidermolysis bullosa (Pasini) caused by a novel glycine substitution mutation in the type VII collagen gene (COL7A1).
    Jonkman MF; Moreno G; Rouan F; Oranje AP; Pulkkinen L; Uitto J
    J Invest Dermatol; 1999 May; 112(5):815-7. PubMed ID: 10233777
    [TBL] [Abstract][Full Text] [Related]  

  • 17. A new glycine substitution mutation in the COL7A1 gene in a Chinese family with dominant dystrophic epidermolysis bullosa.
    Zhang XJ; Song YX; Zhang XQ; Yang S; Li M; Li CR; Yang CJ; Yang J
    Clin Exp Dermatol; 2003 Jul; 28(4):437-9. PubMed ID: 12823310
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Rat model for dominant dystrophic epidermolysis bullosa: glycine substitution reduces collagen VII stability and shows gene-dosage effect.
    Nyström A; Buttgereit J; Bader M; Shmidt T; Ozcelik C; Hausser I; Bruckner-Tuderman L; Kern JS
    PLoS One; 2013; 8(5):e64243. PubMed ID: 23717576
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Generalized dystrophic epidermolysis bullosa: identification of a novel, homozygous glycine substitution, G2031S, in exon 73 of COL7A1 in monozygous triplets.
    Nordal EJ; Mecklenbeck S; Hausser I; Skranes J; Bruckner-Tuderman L; Gedde-Dahl T
    Br J Dermatol; 2001 Jan; 144(1):151-7. PubMed ID: 11167698
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Glycine substitution mutations in the type VII collagen gene (COL7A1) in dystrophic epidermolysis bullosa: implications for genetic counseling.
    Kon A; McGrath JA; Pulkkinen L; Nomura K; Nakamura T; Maekawa Y; Christiano AM; Hashimoto I; Uitto J
    J Invest Dermatol; 1997 Feb; 108(2):224-8. PubMed ID: 9008239
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.