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.
Characterization of mutant type VII collagens underlying the inversa subtype of recessive dystrophic epidermolysis bullosa.
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J Dermatol Sci. 2021 Nov;104(2):104-111. doi: 10.1016/j.jdermsci.2021.09.006. Epub 2021 Sep 23.
Splice modulation strategy applied to deep intronic variants in COL7A1 causing recessive dystrophic epidermolysis bullosa.
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Proc Natl Acad Sci U S A. 2024 Aug 27;121(35):e2401781121. doi: 10.1073/pnas.2401781121. Epub 2024 Aug 19.
Transcriptomic profiling of recessive dystrophic epidermolysis bullosa wounded skin highlights drug repurposing opportunities to improve wound healing.
Onoufriadis A, Proudfoot LE, Ainali C, Torre D, Papanikolaou M, Rayinda T, Rashidghamat E, Danarti R, Mellerio JE, Ma'ayan A, McGrath JA.
Exp Dermatol. 2022 Mar;31(3):420-426. doi: 10.1111/exd.14481. Epub 2021 Nov 2.
Revertant mosaic fibroblasts in recessive dystrophic epidermolysis bullosa.
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Br J Dermatol. 2019 Dec;181(6):1247-1253. doi: 10.1111/bjd.17943. Epub 2019 Jul 8.
COL7A1 Editing via CRISPR/Cas9 in Recessive Dystrophic Epidermolysis Bullosa.
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Mol Ther. 2017 Nov 1;25(11):2573-2584. doi: 10.1016/j.ymthe.2017.07.005. Epub 2017 Jul 13.
The recombinant expression of full-length type VII collagen and characterization of molecular mechanisms underlying dystrophic epidermolysis bullosa.
Chen M, Costa FK, Lindvay CR, Han YP, Woodley DT.
J Biol Chem. 2002 Jan 18;277(3):2118-24. doi: 10.1074/jbc.M108779200. Epub 2001 Nov 6.
Injection of recombinant human type VII collagen restores collagen function in dystrophic epidermolysis bullosa.
Woodley DT, Keene DR, Atha T, Huang Y, Lipman K, Li W, Chen M.
Nat Med. 2004 Jul;10(7):693-5. doi: 10.1038/nm1063. Epub 2004 Jun 13.
Mechanisms of natural gene therapy in dystrophic epidermolysis bullosa.
Kiritsi D, Garcia M, Brander R, Has C, Meijer R, Jose Escámez M, Kohlhase J, van den Akker PC, Scheffer H, Jonkman MF, Del Rio M, Bruckner-Tuderman L, Pasmooij AMG.
J Invest Dermatol. 2014 Aug;134(8):2097-2104. doi: 10.1038/jid.2014.118. Epub 2014 Feb 27.
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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