Bauer JW - Search Results

1

Personalized Development of Antisense Oligonucleotides for Exon Skipping Restores Type XVII Collagen Expression in Junctional Epidermolysis Bullosa.

Ablinger M, Lettner T, Friedl N, Potocki H, Palmetzhofer T, Koller U, Illmer J, Liemberger B, Hainzl S, Klausegger A, Reisenberger M, Lambert J, Van Gele M, Desmet E, Van Maelsaeke E, Wimmer M, Zauner R, Bauer JW, Wally V. Ablinger M, et al. Among authors: bauer jw. Int J Mol Sci. 2021 Mar 24;22(7):3326. doi: 10.3390/ijms22073326. Int J Mol Sci. 2021. PMID: 33805154 Free PMC article.

2

Ocular involvement in IgA-epidermolysis bullosa acquisita.

Bauer JW, Schaeppi H, Metze D, Muss W, Pohla-Gubo G, Hametner R, Ruckhofer J, Grabner G, Hintner H. Bauer JW, et al. Br J Dermatol. 1999 Nov;141(5):887-92. doi: 10.1046/j.1365-2133.1999.03163.x. Br J Dermatol. 1999. PMID: 10583173

3

A compound heterozygous one amino-acid insertion/nonsense mutation in the plectin gene causes epidermolysis bullosa simplex with plectin deficiency.

Bauer JW, Rouan F, Kofler B, Rezniczek GA, Kornacker I, Muss W, Hametner R, Klausegger A, Huber A, Pohla-Gubo G, Wiche G, Uitto J, Hintner H. Bauer JW, et al. Am J Pathol. 2001 Feb;158(2):617-25. doi: 10.1016/S0002-9440(10)64003-5. Am J Pathol. 2001. PMID: 11159198 Free PMC article.

4

Is screening of the candidate gene necessary in unrelated partners of members of families with Herlitz junctional epidermolysis bullosa?

Klausegger A, Pulkkinen L, Pohla-Gubo G, Dallinger G, Puttinger R, Uitto J, Hintner H, Bauer JW. Klausegger A, et al. Among authors: bauer jw. J Invest Dermatol. 2001 Mar;116(3):474-5. doi: 10.1046/j.1523-1747.2001.12793.x. J Invest Dermatol. 2001. PMID: 11231327 Free article. No abstract available.

5

Type XVII collagen gene mutations in junctional epidermolysis bullosa and prospects for gene therapy.

Bauer JW, Lanschuetzer C. Bauer JW, et al. Clin Exp Dermatol. 2003 Jan;28(1):53-60. doi: 10.1046/j.1365-2230.2003.01192.x. Clin Exp Dermatol. 2003. PMID: 12558632 Review.

6

A novel homozygous nonsense deletion/insertion mutation in the keratin 14 gene (Y248X; 744delC/insAG) causes recessive epidermolysis bullosa simplex type Köbner.

Lanschuetzer CM, Klausegger A, Pohla-Gubo G, Hametner R, Richard G, Uitto J, Hintner H, Bauer JW. Lanschuetzer CM, et al. Among authors: bauer jw. Clin Exp Dermatol. 2003 Jan;28(1):77-9. doi: 10.1046/j.1365-2230.2003.01218.x. Clin Exp Dermatol. 2003. PMID: 12558637

7

Development of spliceosome-mediated RNA trans-splicing (SMaRT) for the correction of inherited skin diseases.

Dallinger G, Puttaraju M, Mitchell LG, Yancey KB, Yee C, Klausegger A, Hintner H, Bauer JW. Dallinger G, et al. Among authors: bauer jw. Exp Dermatol. 2003 Feb;12(1):37-46. doi: 10.1034/j.1600-0625.2003.120105.x. Exp Dermatol. 2003. PMID: 12631245

8

Characteristic immunohistochemical and ultrastructural findings indicate that Kindler's syndrome is an apoptotic skin disorder.

Lanschuetzer CM, Muss WH, Emberger M, Pohla-Gubo G, Klausegger A, Bauer JW, Hintner H. Lanschuetzer CM, et al. Among authors: bauer jw. J Cutan Pathol. 2003 Oct;30(9):553-60. doi: 10.1034/j.1600-0560.2003.00119.x. J Cutan Pathol. 2003. PMID: 14507403

9

Pathogenic mechanisms in epidermolysis bullosa naevi.

Lanschuetzer CM, Emberger M, Hametner R, Klausegger A, Pohla-Gubo G, Hintner H, Bauer JW. Lanschuetzer CM, et al. Among authors: bauer jw. Acta Derm Venereol. 2003;83(5):332-7. doi: 10.1080/00015550310012674. Acta Derm Venereol. 2003. PMID: 14609098 Free article.

10

Gene symbol: KRT14. Disease: epidermolysis bullosa simplex, Koebner.

Lanschuetzer CM, Klausegger A, Pohla-Gubo G, Hametner R, Richard G, Uitto J, Hintner H, Bauer JW. Lanschuetzer CM, et al. Among authors: bauer jw. Hum Genet. 2004 Jul;115(2):171. Hum Genet. 2004. PMID: 15300974 No abstract available.

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