214 related articles for article (PubMed ID: 8170945)
1. Dominant dystrophic epidermolysis bullosa: identification of a Gly-->Ser substitution in the triple-helical domain of type VII collagen.
Christiano AM; Ryynänen M; Uitto J
Proc Natl Acad Sci U S A; 1994 Apr; 91(9):3549-53. PubMed ID: 8170945
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. Identification of the glycine-to-arginine substitution G2043R in type VII collagen in a family with dominant dystrophic epidermolysis bullosa from Hungary.
Cserhalmi-Friedman PB; Karpati S; Horvath A; Christiano AM
Exp Dermatol; 1997 Dec; 6(6):303-7. PubMed ID: 9412818
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. 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]
6. Genetic linkage of type VII collagen (COL7A1) to dominant dystrophic epidermolysis bullosa in families with abnormal anchoring fibrils.
Ryynänen M; Ryynänen J; Sollberg S; Iozzo RV; Knowlton RG; Uitto J
J Clin Invest; 1992 Mar; 89(3):974-80. PubMed ID: 1347297
[TBL] [Abstract][Full Text] [Related]
7. A glycine-to-arginine substitution in the triple-helical domain of type VII collagen in a family with dominant dystrophic epidermolysis bullosa pruriginosa.
Lee JY; Pulkkinen L; Liu HS; Chen YF; Uitto J
J Invest Dermatol; 1997 Jun; 108(6):947-9. PubMed ID: 9182828
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. 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]
10. 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]
11. 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]
12. 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]
13. Human type VII collagen: genetic linkage of the gene (COL7A1) on chromosome 3 to dominant dystrophic epidermolysis bullosa.
Ryynänen M; Knowlton RG; Parente MG; Chung LC; Chu ML; Uitto J
Am J Hum Genet; 1991 Oct; 49(4):797-803. PubMed ID: 1680286
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. Premature termination codons in the type VII collagen gene (COL7A1) underlie severe, mutilating recessive dystrophic epidermolysis bullosa.
Christiano AM; Anhalt G; Gibbons S; Bauer EA; Uitto J
Genomics; 1994 May; 21(1):160-8. PubMed ID: 8088783
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. 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]
18. Molecular basis of dystrophic epidermolysis bullosa: mutations in the type VII collagen gene (COL7A1).
Järvikallio A; Pulkkinen L; Uitto J
Hum Mutat; 1997; 10(5):338-47. PubMed ID: 9375848
[TBL] [Abstract][Full Text] [Related]
19. Genetic basis of Bart's syndrome: a glycine substitution mutation in type VII collagen gene.
Christiano AM; Bart BJ; Epstein EH; Uitto J
J Invest Dermatol; 1996 Apr; 106(4):778-80. PubMed ID: 8618021
[TBL] [Abstract][Full Text] [Related]
20. A novel missense mutation in the COL7A1 gene underlies epidermolysis bullosa pruriginosa.
Chuang GS; Martinez-Mir A; Yu HS; Sung FY; Chuang RY; Cserhalmi-Friedman PB; Christiano AM
Clin Exp Dermatol; 2004 May; 29(3):304-7. PubMed ID: 15115517
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]