Format
Sort by

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 119

1.

Early intra-amniotic gene transfer using lentiviral vector improves skin blistering phenotype in a murine model of Herlitz junctional epidermolysis bullosa.

Endo M, Zoltick PW, Radu A, Jiang Q, Matsui C, Marinkovich PM, McGrath J, Tamai K, Uitto J, Flake AW.

Gene Ther. 2012 May;19(5):561-9. doi: 10.1038/gt.2011.135. Epub 2011 Sep 22. Erratum in: Gene Ther. 2012 Nov;19(11):1122. Qiujie, J [corrected to Jiang, Q].

PMID:
21938019
2.

Evaluation of prenatal intra-amniotic LAMB3 gene delivery in a mouse model of Herlitz disease.

Mühle C, Neuner A, Park J, Pacho F, Jiang Q, Waddington SN, Schneider H.

Gene Ther. 2006 Dec;13(23):1665-76. Epub 2006 Jul 27.

PMID:
16871230
3.

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 24;98(9):5193-8. Epub 2001 Apr 10.

4.

Herlitz junctional epidermolysis bullosa.

Laimer M, Lanschuetzer CM, Diem A, Bauer JW.

Dermatol Clin. 2010 Jan;28(1):55-60. doi: 10.1016/j.det.2009.10.006. Review.

PMID:
19945616
5.

IAP insertion in the murine LamB3 gene results in junctional epidermolysis bullosa.

Kuster JE, Guarnieri MH, Ault JG, Flaherty L, Swiatek PJ.

Mamm Genome. 1997 Sep;8(9):673-81.

PMID:
9271670
6.

Laminin 5 mutations in junctional epidermolysis bullosa: molecular basis of Herlitz vs. non-Herlitz phenotypes.

Nakano A, Chao SC, Pulkkinen L, Murrell D, Bruckner-Tuderman L, Pfendner E, Uitto J.

Hum Genet. 2002 Jan;110(1):41-51. Epub 2001 Nov 13.

PMID:
11810295
7.

A homozygous nonsense mutation in the alpha 3 chain gene of laminin 5 (LAMA3) in lethal (Herlitz) junctional epidermolysis bullosa.

Kivirikko S, McGrath JA, Baudoin C, Aberdam D, Ciatti S, Dunnill MG, McMillan JR, Eady RA, Ortonne JP, Meneguzzi G, et al.

Hum Mol Genet. 1995 May;4(5):959-62.

PMID:
7633458
8.

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.

Hum Genet. 2005 Jan;116(1-2):33-42. Epub 2004 Nov 5.

PMID:
15538630
9.
10.

Corrective gene transfer of keratinocytes from patients with junctional epidermolysis bullosa restores assembly of hemidesmosomes in reconstructed epithelia.

Vailly J, Gagnoux-Palacios L, Dell'Ambra E, Roméro C, Pinola M, Zambruno G, De Luca M, Ortonne JP, Meneguzzi G.

Gene Ther. 1998 Oct;5(10):1322-32.

11.

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.

12.

Laminin 332 in junctional epidermolysis bullosa.

Kiritsi D, Has C, Bruckner-Tuderman L.

Cell Adh Migr. 2013 Jan-Feb;7(1):135-41. doi: 10.4161/cam.22418. Epub 2012 Oct 17. Review.

13.

Sustainable correction of junctional epidermolysis bullosa via transposon-mediated nonviral gene transfer.

Ortiz-Urda S, Lin Q, Yant SR, Keene D, Kay MA, Khavari PA.

Gene Ther. 2003 Jul;10(13):1099-104.

PMID:
12808440
14.

Identification of the LAMB3 hotspot mutation R635X in a Hungarian case of Herlitz junctional epidermolysis bullosa.

Cserhalmi PB, Horvath A, Boros V, Sapi Z, Kormendi M, Christiano AM, Karpati S.

Exp Dermatol. 1997 Apr;6(2):70-4.

PMID:
9209887
15.
16.

DNA based molecular analysis in the rapid diagnosis of Herlitz junctional epidermolysis bullosa.

Cserhalmi-Friedman PB, Yeboa KA, Christiano AM.

Clin Exp Dermatol. 2001 Mar;26(2):205-7.

PMID:
11298117
17.

Genetic bases of severe junctional epidermolysis bullosa presenting spontaneous amelioration with aging.

Gache Y, Allegra M, Bodemer C, Pisani-Spadafora A, de Prost Y, Ortonne JP, Meneguzzi G.

Hum Mol Genet. 2001 Oct 1;10(21):2453-61.

18.

Novel mutations in the LAMB3 gene shared by two Japanese unrelated families with Herlitz junctional epidermolysis bullosa, and their application for prenatal testing.

Takizawa Y, Shimizu H, Pulkkinen L, Hiraoka Y, McGrath JA, Suzumori K, Aiso S, Uitto J, Nishikawa T.

J Invest Dermatol. 1998 Feb;110(2):174-8.

19.

Molecular diagnostics facilitate distinction between lethal and non-lethal subtypes of junctional epidermolysis bullosa: a case report and review of the literature.

Bauer J, Schumann H, Sönnichsen K, Tomaske M, Bosk A, Bruckner-Tuderman L, Rassner G, Garbe C.

Eur J Pediatr. 2002 Dec;161(12):672-9. Epub 2001 Nov 15. Review.

PMID:
12447669
20.

PhiC31 integrase-mediated nonviral genetic correction of junctional epidermolysis bullosa.

Ortiz-Urda S, Thyagarajan B, Keene DR, Lin Q, Calos MP, Khavari PA.

Hum Gene Ther. 2003 Jun 10;14(9):923-8.

PMID:
12828862
Items per page

Supplemental Content

Write to the Help Desk