Attenuation of Severe Generalized Junctional Epidermolysis Bullosa by Systemic Treatment with Gentamicin.
Hammersen J, Neuner A, Wild F, Schneider H.
Dermatology. 2019;235(4):315-322. doi: 10.1159/000499906. Epub 2019 May 27.
Genotype and phenotype correlations in 441 patients with epidermolysis bullosa from China.
Chen F, Wei R, Deng D, Zhang X, Cao Y, Pan C, Wang Y, Cao Q, Wang J, Zeng M, Huang L, Gu Y, Yao Z, Li M.
J Eur Acad Dermatol Venereol. 2023 Feb;37(2):411-419. doi: 10.1111/jdv.18692. Epub 2022 Nov 5.
Somatic correction of junctional epidermolysis bullosa by a highly recombinogenic AAV variant.
Melo SP, Lisowski L, Bashkirova E, Zhen HH, Chu K, Keene DR, Marinkovich MP, Kay MA, Oro AE.
Mol Ther. 2014 Apr;22(4):725-33. doi: 10.1038/mt.2013.290. Epub 2014 Jan 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. doi: 10.1007/s00439-001-0630-1. Epub 2001 Nov 13.
Protein therapeutics for junctional epidermolysis bullosa: incorporation of recombinant beta3 chain into laminin 332 in beta3-/- keratinocytes in vitro.
Igoucheva O, Kelly A, Uitto J, Alexeev V.
J Invest Dermatol. 2008 Jun;128(6):1476-86. doi: 10.1038/sj.jid.5701197. Epub 2007 Dec 13.
Molecular mechanisms of junctional epidermolysis bullosa: Col 15 domain mutations decrease the thermal stability of collagen XVII.
Väisänen L, Has C, Franzke C, Hurskainen T, Tuomi ML, Bruckner-Tuderman L, Tasanen K.
J Invest Dermatol. 2005 Dec;125(6):1112-8. doi: 10.1111/j.0022-202X.2005.23943.x.
Mutational analysis of epidermolysis bullosa in Taiwan by whole-exome sequencing complemented by RNA sequencing: a series of 77 patients.
Tu WT, Hou PC, Chen PC, Chen WR, Huang HY, Wang JY, Huang YT, Wu YH, Su CL, Tang YA, Iwata H, Natsuga K, Chao SC, Sun HS, Tang MJ, Lee JY, McGrath JA, Hsu CK.
Orphanet J Rare Dis. 2022 Dec 28;17(1):451. doi: 10.1186/s13023-022-02605-1.
Targeted inactivation of murine laminin gamma2-chain gene recapitulates human junctional epidermolysis bullosa.
Meng X, Klement JF, Leperi DA, Birk DE, Sasaki T, Timpl R, Uitto J, Pulkkinen L.
J Invest Dermatol. 2003 Oct;121(4):720-31. doi: 10.1046/j.1523-1747.2003.12515.x.
Corrective transduction of human epidermal stem cells in laminin-5-dependent junctional epidermolysis bullosa.
Dellambra E, Vailly J, Pellegrini G, Bondanza S, Golisano O, Macchia C, Zambruno G, Meneguzzi G, De Luca M.
Hum Gene Ther. 1998 Jun 10;9(9):1359-70. doi: 10.1089/hum.1998.9.9-1359.
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. doi: 10.1038/sj.gt.3300730.
