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Items: 1 to 20 of 100

1.

Efficient gene reframing therapy for recessive dystrophic epidermolysis bullosa using CRISPR/Cas9.

Takashima S, Shinkuma S, Fujita Y, Nomura T, Ujiie H, Natsuga K, Iwata H, Nakamura H, Vorobyev A, Abe R, Shimizu H.

J Invest Dermatol. 2019 Mar 1. pii: S0022-202X(19)30185-X. doi: 10.1016/j.jid.2019.02.015. [Epub ahead of print]

PMID:
30831133
2.

Clinically Relevant Correction of Recessive Dystrophic Epidermolysis Bullosa by Dual sgRNA CRISPR/Cas9-Mediated Gene Editing.

Bonafont J, Mencía Á, García M, Torres R, Rodríguez S, Carretero M, Chacón-Solano E, Modamio-Høybjør S, Marinas L, León C, Escamez MJ, Hausser I, Del Río M, Murillas R, Larcher F.

Mol Ther. 2019 Mar 15. pii: S1525-0016(19)30093-0. doi: 10.1016/j.ymthe.2019.03.007. [Epub ahead of print]

3.

Site-specific genome editing for correction of induced pluripotent stem cells derived from dominant dystrophic epidermolysis bullosa.

Shinkuma S, Guo Z, Christiano AM.

Proc Natl Acad Sci U S A. 2016 May 17;113(20):5676-81. doi: 10.1073/pnas.1512028113. Epub 2016 May 3.

4.

Ex Vivo COL7A1 Correction for Recessive Dystrophic Epidermolysis Bullosa Using CRISPR/Cas9 and Homology-Directed Repair.

Izmiryan A, Ganier C, Bovolenta M, Schmitt A, Mavilio F, Hovnanian A.

Mol Ther Nucleic Acids. 2018 Sep 7;12:554-567. doi: 10.1016/j.omtn.2018.06.008. Epub 2018 Jun 26.

5.

Keratinocyte-/fibroblast-targeted rescue of Col7a1-disrupted mice and generation of an exact dystrophic epidermolysis bullosa model using a human COL7A1 mutation.

Ito K, Sawamura D, Goto M, Nakamura H, Nishie W, Sakai K, Natsuga K, Shinkuma S, Shibaki A, Uitto J, Denton CP, Nakajima O, Akiyama M, Shimizu H.

Am J Pathol. 2009 Dec;175(6):2508-17. doi: 10.2353/ajpath.2009.090347. Epub 2009 Nov 5.

6.

Deletion of a Pathogenic Mutation-Containing Exon of COL7A1 Allows Clonal Gene Editing Correction of RDEB Patient Epidermal Stem Cells.

Mencía Á, Chamorro C, Bonafont J, Duarte B, Holguin A, Illera N, Llames SG, Escámez MJ, Hausser I, Del Río M, Larcher F, Murillas R.

Mol Ther Nucleic Acids. 2018 Jun 1;11:68-78. doi: 10.1016/j.omtn.2018.01.009. Epub 2018 Jan 31.

7.

Gene Editing for the Efficient Correction of a Recurrent COL7A1 Mutation in Recessive Dystrophic Epidermolysis Bullosa Keratinocytes.

Chamorro C, Mencía A, Almarza D, Duarte B, Büning H, Sallach J, Hausser I, Del Río M, Larcher F, Murillas R.

Mol Ther Nucleic Acids. 2016 Apr 5;5:e307. doi: 10.1038/mtna.2016.19.

8.

COL7A1 Editing via CRISPR/Cas9 in Recessive Dystrophic Epidermolysis Bullosa.

Hainzl S, Peking P, Kocher T, Murauer EM, Larcher F, Del Rio M, Duarte B, Steiner M, Klausegger A, Bauer JW, Reichelt J, Koller U.

Mol Ther. 2017 Nov 1;25(11):2573-2584. doi: 10.1016/j.ymthe.2017.07.005. Epub 2017 Jul 13.

9.

Harnessing accurate non-homologous end joining for efficient precise deletion in CRISPR/Cas9-mediated genome editing.

Guo T, Feng YL, Xiao JJ, Liu Q, Sun XN, Xiang JF, Kong N, Liu SC, Chen GQ, Wang Y, Dong MM, Cai Z, Lin H, Cai XJ, Xie AY.

Genome Biol. 2018 Oct 19;19(1):170. doi: 10.1186/s13059-018-1518-x.

10.

CRISPR/Cas9-Induced Double-Strand Break Repair in Arabidopsis Nonhomologous End-Joining Mutants.

Shen H, Strunks GD, Klemann BJ, Hooykaas PJ, de Pater S.

G3 (Bethesda). 2017 Jan 5;7(1):193-202. doi: 10.1534/g3.116.035204.

11.

Quantitative assessment of HR and NHEJ activities via CRISPR/Cas9-induced oligodeoxynucleotide-mediated DSB repair.

Du J, Yin N, Xie T, Zheng Y, Xia N, Shang J, Chen F, Zhang H, Yu J, Liu F.

DNA Repair (Amst). 2018 Oct;70:67-71. doi: 10.1016/j.dnarep.2018.09.002. Epub 2018 Sep 6.

PMID:
30212742
12.

Five Novel COL7A1 Gene Mutations in Three Chinese Patients with Recessive Dystrophic Epidermolysis Bullosa.

Yan Y, Meng Z, Hao S, Wang F, Jin X, Sun D, Gao H, Ma X.

Ann Clin Lab Sci. 2018 Jan;48(1):100-105.

PMID:
29531004
13.

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.

14.

Two novel mutations on exon 8 and intron 65 of COL7A1 gene in two Chinese brothers result in recessive dystrophic epidermolysis bullosa.

Lin Y, Chen XJ, Liu W, Gong B, Xie J, Xiong JH, Cheng J, Duan XL, Lin ZC, Huang LL, Wan HY, Liu XQ, Song LH, Yang ZL.

PLoS One. 2012;7(11):e50579. doi: 10.1371/journal.pone.0050579. Epub 2012 Nov 30.

15.

Review of collagen VII sequence variants found in Australasian patients with dystrophic epidermolysis bullosa reveals nine novel COL7A1 variants.

Dang N, Klingberg S, Marr P, Murrell DF.

J Dermatol Sci. 2007 Jun;46(3):169-78. Epub 2007 Apr 10. Review.

PMID:
17425959
16.

Mutation analysis and characterization of COL7A1 mutations in dystrophic epidermolysis bullosa.

Dang N, Murrell DF.

Exp Dermatol. 2008 Jul;17(7):553-68. doi: 10.1111/j.1600-0625.2008.00723.x. Review.

PMID:
18558993
17.

Efficient introduction of specific homozygous and heterozygous mutations using CRISPR/Cas9.

Paquet D, Kwart D, Chen A, Sproul A, Jacob S, Teo S, Olsen KM, Gregg A, Noggle S, Tessier-Lavigne M.

Nature. 2016 May 5;533(7601):125-9. doi: 10.1038/nature17664. Epub 2016 Apr 27.

PMID:
27120160
18.
19.

A novel COL7A1 gene mutation in an Iranian individual suffering dystrophic epidermolysis bullosa.

Galehdari H, Mohammadian G, Azmoon S, Salehi B, Pedram M.

J Mol Diagn. 2010 May;12(3):377-9. doi: 10.2353/jmoldx.2010.090145. Epub 2010 Feb 26.

20.

One Novel Frameshift Mutation on Exon 64 of COL7A1 Gene in an Iranian Individual Suffering Recessive Dystrophic Epidermolysis Bullosa.

Khaniani MS, Sohrabi N, Derakhshan NM, Derakhshan SM.

Ann Clin Lab Sci. 2015 Fall;45(5):582-4.

PMID:
26586712

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