178 related articles for article (PubMed ID: 10636730)
1. 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]
2. 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]
3. 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]
4. 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]
5. 180-kD bullous pemphigoid antigen (BP180) is deficient in generalized atrophic benign epidermolysis bullosa.
Jonkman MF; de Jong MC; Heeres K; Pas HH; van der Meer JB; Owaribe K; Martinez de Velasco AM; Niessen CM; Sonnenberg A
J Clin Invest; 1995 Mar; 95(3):1345-52. PubMed ID: 7883981
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. Mutations in the 180-kD bullous pemphigoid antigen (BPAG2), a hemidesmosomal transmembrane collagen (COL17A1), in generalized atrophic benign epidermolysis bullosa.
McGrath JA; Gatalica B; Christiano AM; Li K; Owaribe K; McMillan JR; Eady RA; Uitto J
Nat Genet; 1995 Sep; 11(1):83-6. PubMed ID: 7550320
[TBL] [Abstract][Full Text] [Related]
8. Generalized atrophic benign epidermolysis bullosa. Either 180-kd bullous pemphigoid antigen or laminin-5 deficiency.
Jonkman MF; de Jong MC; Heeres K; Steijlen PM; Owaribe K; Küster W; Meurer M; Gedde-Dahl T; Sonnenberg A; Bruckner-Tuderman L
Arch Dermatol; 1996 Feb; 132(2):145-50. PubMed ID: 8629821
[TBL] [Abstract][Full Text] [Related]
9. Diminished expression of the extracellular domain of bullous pemphigoid antigen 2 (BPAG2) in the epidermal basement membrane of patients with generalized atrophic benign epidermolysis bullosa.
Pohla-Gubo G; Lazarova Z; Giudice GJ; Liebert M; Grassegger A; Hintner H; Yancey KB
Exp Dermatol; 1995 Aug; 4(4 Pt 1):199-206. PubMed ID: 8535614
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. 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]
12. A homozygous deletion mutation in the gene encoding the 180-kDa bullous pemphigoid antigen (BPAG2) in a family with generalized atrophic benign epidermolysis bullosa.
McGrath JA; Darling T; Gatalica B; Pohla-Gubo G; Hintner H; Christiano AM; Yancey K; Uitto J
J Invest Dermatol; 1996 Apr; 106(4):771-4. PubMed ID: 8618019
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. Role of the bullous pemphigoid antigen 180 (BP180) in the assembly of hemidesmosomes and cell adhesion--reexpression of BP180 in generalized atrophic benign epidermolysis bullosa keratinocytes.
Borradori L; Chavanas S; Schaapveld RQ; Gagnoux-Palacios L; Calafat J; Meneguzzi G; Sonnenberg A
Exp Cell Res; 1998 Mar; 239(2):463-76. PubMed ID: 9521865
[TBL] [Abstract][Full Text] [Related]
15. A homozygous in-frame deletion in the collagenous domain of bullous pemphigoid antigen BP180 (type XVII collagen) causes generalized atrophic benign epidermolysis bullosa.
Chavanas S; Gache Y; Tadini G; Pulkkinen L; Uitto J; Ortonne JP; Meneguzzi G
J Invest Dermatol; 1997 Jul; 109(1):74-8. PubMed ID: 9204958
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. Junctional epidermolysis bullosa in the Middle East: clinical and genetic studies in a series of consanguineous families.
Nakano A; Lestringant GG; Paperna T; Bergman R; Gershoni R; Frossard P; Kanaan M; Meneguzzi G; Richard G; Pfendner E; Uitto J; Pulkkinen L; Sprecher E
J Am Acad Dermatol; 2002 Apr; 46(4):510-6. PubMed ID: 11907499
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. 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]
20. 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]
[Next] [New Search]
