Bruckner-Tuderman L - Search Results

1

Genetic correction of canine dystrophic epidermolysis bullosa mediated by retroviral vectors.

Baldeschi C, Gache Y, Rattenholl A, Bouillé P, Danos O, Ortonne JP, Bruckner-Tuderman L, Meneguzzi G. Baldeschi C, et al. Hum Mol Genet. 2003 Aug 1;12(15):1897-905. doi: 10.1093/hmg/ddg200. Hum Mol Genet. 2003. PMID: 12874109

2

Novel and recurrent mutations in the laminin-5 genes causing lethal junctional epidermolysis bullosa: molecular basis and clinical course of Herlitz disease.

Mühle C, Jiang QJ, Charlesworth A, Bruckner-Tuderman L, Meneguzzi G, Schneider H. Mühle C, et al. Hum Genet. 2005 Jan;116(1-2):33-42. doi: 10.1007/s00439-004-1210-y. Epub 2004 Nov 5. Hum Genet. 2005. PMID: 15538630

3

Dominant-negative effects of COL7A1 mutations can be rescued by controlled overexpression of normal collagen VII.

Fritsch A, Spassov S, Elfert S, Schlosser A, Gache Y, Meneguzzi G, Bruckner-Tuderman L. Fritsch A, et al. J Biol Chem. 2009 Oct 30;284(44):30248-56. doi: 10.1074/jbc.M109.045294. Epub 2009 Sep 2. J Biol Chem. 2009. PMID: 19726672 Free PMC article.

4

Proteinases of the bone morphogenetic protein-1 family convert procollagen VII to mature anchoring fibril collagen.

Rattenholl A, Pappano WN, Koch M, Keene DR, Kadler KE, Sasaki T, Timpl R, Burgeson RE, Greenspan DS, Bruckner-Tuderman L. Rattenholl A, et al. J Biol Chem. 2002 Jul 19;277(29):26372-8. doi: 10.1074/jbc.M203247200. Epub 2002 May 1. J Biol Chem. 2002. PMID: 11986329 Free article.

5

Spliceosome-mediated RNA trans-splicing facilitates targeted delivery of suicide genes to cancer cells.

Gruber C, Gratz IK, Murauer EM, Mayr E, Koller U, Bruckner-Tuderman L, Meneguzzi G, Hintner H, Bauer JW. Gruber C, et al. Mol Cancer Ther. 2011 Feb;10(2):233-41. doi: 10.1158/1535-7163.MCT-10-0669. Epub 2011 Jan 5. Mol Cancer Ther. 2011. PMID: 21209069

6

Modulation of disease severity of dystrophic epidermolysis bullosa by a splice site mutation in combination with a missense mutation in the COL7A1 gene.

Winberg JO, Hammami-Hauasli N, Nilssen O, Anton-Lamprecht I, Naylor SL, Kerbacher K, Zimmermann M, Krajci P, Gedde-Dahl T Jr, Bruckner-Tuderman L. Winberg JO, et al. Hum Mol Genet. 1997 Jul;6(7):1125-35. doi: 10.1093/hmg/6.7.1125. Hum Mol Genet. 1997. PMID: 9215684 Free article.

7

Absence of the Integrin α3 Subunit Induces an Activated Phenotype in Human Keratinocytes.

Pazzagli C, He Y, Busch H, Esser P, Kiritsi D, Gache Y, Bruckner-Tuderman L, Boerries M, Has C. Pazzagli C, et al. J Invest Dermatol. 2017 Jun;137(6):1387-1391. doi: 10.1016/j.jid.2017.01.018. Epub 2017 Feb 3. J Invest Dermatol. 2017. PMID: 28163067 Free article. No abstract available.

8

Lack of plakoglobin leads to lethal congenital epidermolysis bullosa: a novel clinico-genetic entity.

Pigors M, Kiritsi D, Krümpelmann S, Wagner N, He Y, Podda M, Kohlhase J, Hausser I, Bruckner-Tuderman L, Has C. Pigors M, et al. Hum Mol Genet. 2011 May 1;20(9):1811-9. doi: 10.1093/hmg/ddr064. Epub 2011 Feb 14. Hum Mol Genet. 2011. PMID: 21320868

9

Implications of intragenic marker homozygosity and haplotype sharing in a rare autosomal recessive disorder: the example of the collagen type XVII (COL17A1) locus in generalised atrophic benign epidermolysis bullosa.

Scheffer H, Stulp RP, Verlind E, van der Meulen M, Bruckner-Tuderman L, Gedde-Dahl T Jr, te Meerman GJ, Sonnenberg A, Buys CH, Jonkman MF. Scheffer H, et al. Hum Genet. 1997 Aug;100(2):230-5. doi: 10.1007/s004390050496. Hum Genet. 1997. PMID: 9254855

10

Deletions within COL7A1 exons distant from consensus splice sites alter splicing and produce shortened polypeptides in dominant dystrophic epidermolysis bullosa.

Sakuntabhai A, Hammami-Hauasli N, Bodemer C, Rochat A, Prost C, Barrandon Y, de Prost Y, Lathrop M, Wojnarowska F, Bruckner-Tuderman L, Hovnanian A. Sakuntabhai A, et al. Am J Hum Genet. 1998 Sep;63(3):737-48. doi: 10.1086/302029. Am J Hum Genet. 1998. PMID: 9718359 Free PMC article.

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