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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.
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Attenuation of Severe Generalized Junctional Epidermolysis Bullosa by Systemic Treatment with Gentamicin.
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Dermatology. 2019;235(4):315-322. doi: 10.1159/000499906. Epub 2019 May 27.
Skin microbiome analysis of a junctional epidermolysis bullosa patient treated with genetically modified stem cells.
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J Dtsch Dermatol Ges. 2025 Sep;23(9):1084-1091. doi: 10.1111/ddg.15776. Epub 2025 Jun 12.
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.
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.
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.
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Corrective transduction of human epidermal stem cells in laminin-5-dependent junctional epidermolysis bullosa.
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Hum Gene Ther. 1998 Jun 10;9(9):1359-70. doi: 10.1089/hum.1998.9.9-1359.
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.
Moderation of phenotypic severity in dystrophic and junctional forms of epidermolysis bullosa through in-frame skipping of exons containing non-sense or frameshift mutations.
McGrath JA, Ashton GH, Mellerio JE, Salas-Alanis JC, Swensson O, McMillan JR, Eady RA.
J Invest Dermatol. 1999 Sep;113(3):314-21. doi: 10.1046/j.1523-1747.1999.00709.x.
