Klausegger A - Search Results

1

Paired nicking-mediated COL17A1 reframing for junctional epidermolysis bullosa.

Bischof J, March OP, Liemberger B, Haas SA, Hainzl S, Petković I, Leb-Reichl V, Illmer J, Korotchenko E, Klausegger A, Hoog A, Binder HM, Garcia M, Duarte B, Strunk D, Larcher F, Reichelt J, Guttmann-Gruber C, Wally V, Hofbauer JP, Bauer JW, Cathomen T, Kocher T, Koller U. Bischof J, et al. Among authors: klausegger a. Mol Ther. 2022 Aug 3;30(8):2680-2692. doi: 10.1016/j.ymthe.2022.04.020. Epub 2022 Apr 30. Mol Ther. 2022. PMID: 35490295 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. Among authors: klausegger a. 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: klausegger a. 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: klausegger a. 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: klausegger a. 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: klausegger a. 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: klausegger a. Hum Genet. 2004 Jul;115(2):171. Hum Genet. 2004. PMID: 15300974 No abstract available.

8

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: klausegger a. Lab Invest. 2004 Oct;84(10):1279-88. doi: 10.1038/labinvest.3700164. Lab Invest. 2004. PMID: 15311214 Free article.

9

[Dental alterations in junctional epidermolysis bullosa--report of a patient with a mutation in the LAMB3-gene].

Sadler E, Laimer M, Diem A, Klausegger A, Pohla-Gubo G, Muss W, Hachleitner J, Stadlhuber R, Bauer JW, Hintner H. Sadler E, et al. Among authors: klausegger a. J Dtsch Dermatol Ges. 2005 May;3(5):359-63. doi: 10.1111/j.1610-0387.2005.05703.x. J Dtsch Dermatol Ges. 2005. PMID: 16372803 German.

10

Skin grafting as a therapeutic approach in pretibially restricted junctional epidermolysis bullosa.

Laimer M, Bauer JW, Klausegger A, Koller J, Pohla-Gubo G, Muss W, Sadler E, Emberger M, Lanschuetzer CM, Hametner R, Wally V, Oender K, Hinter H. Laimer M, et al. Among authors: klausegger a. Br J Dermatol. 2006 Jan;154(1):185-7. doi: 10.1111/j.1365-2133.2005.06988.x. Br J Dermatol. 2006. PMID: 16403119 No abstract available.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

59 results

Search Page