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2. 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]
3. BP180/type XVII collagen: its role in acquired and inherited disorders or the dermal-epidermal junction. Zillikens D; Giudice GJ Arch Dermatol Res; 1999 Apr; 291(4):187-94. PubMed ID: 10335914 [TBL] [Abstract][Full Text] [Related]
4. 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]
5. 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]
6. Non-Herlitz junctional epidermolysis bullosa without hair involvement associated with BP180 deficiency. Guerriero C; De Simone C; Venier A; Rotoli M; Posteraro P; Zambruno G; Amerio P Dermatology; 2001; 202(1):58-62. PubMed ID: 11244233 [TBL] [Abstract][Full Text] [Related]
7. 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]
8. BP180 (type XVII collagen) and its role in cutaneous biology and disease. Van den Bergh F; Giudice GJ Adv Dermatol; 2003; 19():37-71. PubMed ID: 14626817 [TBL] [Abstract][Full Text] [Related]
9. 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]
10. 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]
11. 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]
12. 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]
13. Molecular consequences of deletion of the cytoplasmic domain of bullous pemphigoid 180 in a patient with predominant features of epidermolysis bullosa simplex. Fontao L; Tasanen K; Huber M; Hohl D; Koster J; Bruckner-Tuderman L; Sonnenberg A; Borradori L J Invest Dermatol; 2004 Jan; 122(1):65-72. PubMed ID: 14962091 [TBL] [Abstract][Full Text] [Related]
14. In vivo restoration of laminin 5 beta 3 expression and function in junctional epidermolysis bullosa. Robbins PB; Lin Q; Goodnough JB; Tian H; Chen X; Khavari PA Proc Natl Acad Sci U S A; 2001 Apr; 98(9):5193-8. PubMed ID: 11296269 [TBL] [Abstract][Full Text] [Related]
15. 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]
16. 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]
17. 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]
18. 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]
20. 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] [Next] [New Search]