Bauer JW - Search Results

1

Improved Double-Nicking Strategies for COL7A1-Editing by Homologous Recombination.

Kocher T, Wagner RN, Klausegger A, Guttmann-Gruber C, Hainzl S, Bauer JW, Reichelt J, Koller U. Kocher T, et al. Among authors: bauer jw. Mol Ther Nucleic Acids. 2019 Dec 6;18:496-507. doi: 10.1016/j.omtn.2019.09.011. Epub 2019 Sep 20. Mol Ther Nucleic Acids. 2019. PMID: 31670199 Free PMC article.

2

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.

3

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

4

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

5

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

6

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.

7

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.

8

Gene symbol: Kind1. Disease: kindler syndrome.

Lanschuetzer CM, Muss WH, Emberger M, Pohla-Gubo G, Klausegger A, Bauer JW, Hintner H. Lanschuetzer CM, et al. Among authors: bauer jw. Hum Genet. 2004 Jul;115(2):175. Hum Genet. 2004. PMID: 15300990 No abstract available.

9

Analysis of the LAMB3 gene in a junctional epidermolysis bullosa patient reveals exonic splicing and allele-specific nonsense-mediated mRNA decay.

Buchroithner B, Klausegger A, Ebschner U, Anton-Lamprecht I, Pohla-Gubo G, Lanschuetzer CM, Laimer M, Hintner H, Bauer JW. Buchroithner B, et al. Among authors: bauer jw. Lab Invest. 2004 Oct;84(10):1279-88. doi: 10.1038/labinvest.3700164. Lab Invest. 2004. PMID: 15311214 Free article.

10

Haploinsufficiency due to deletion within the 3'-UTR of C1-INH-gene associated with hereditary angioedema.

Laimer M, Klausegger A, Aberer W, Oender K, Steinhuber M, Lanschuetzer CM, Wally V, Hintner H, Bauer JW. Laimer M, et al. Among authors: bauer jw. Genet Med. 2006 Apr;8(4):249-54. doi: 10.1097/01.gim.0000214302.90076.fa. Genet Med. 2006. PMID: 16617246 Free article.

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