COL7A1 repair via prime editing in dystrophic epidermolysis bullosa

被引：0
|
作者：
Bischof, J. [1 ]
Kocher, T. [1 ]
Pedroso, L. Lopes [1 ]
Liemberger, B. [1 ]
Hainzl, S. [1 ]
Maeding, N. [3 ]
Strunk, D. [3 ]
Guttmann-Gruber, C. [1 ]
Wally, V. [1 ]
Hofbauer, J. Pinon [1 ]
Bauer, J. W. [2 ]
Koller, U. [1 ]
机构：
[1] Paracelsus Med Univ, Univ Hosp, Dept Dermatol & Allergol, EB House Austria,Res Program Mol Therapy Genoderm, A-5020 Salzburg, Austria
[2] Paracelsus Med Univ Salzburg, Dept Dermatol & Allergol, Univ Hosp, A-5020 Salzburg, Austria
[3] Paracelsus Med Univ, Cell Therapy Inst, SCI TReCS, Salzburg, Austria
来源：
HUMAN GENE THERAPY | 2024年 / 35卷 / 3-4期
关键词：
D O I：
暂无
中图分类号：
Q81 [生物工程学（生物技术）]; Q93 [微生物学];
学科分类号：
071005 ; 0836 ; 090102 ; 100705 ;
摘要：
P665
引用
收藏
页码：A275 / A276
页数：2
相关论文
共 50 条
  • [41] Autosomal recessive type of dystrophic epidermolysis bullosa with a novel variant in the COL7A1 gene
    Nikolova, Slavena Enkova
    Kamburova, Zornitsa Bogomilova
    Vasilev, Preslav Plamenov
    Kovacheva, Katya Stefanova
    Yordanova, Ivelina Asparuhova
    BIOMEDICAL REPORTS, 2024, 21 (05)
  • [42] Novel COL7A1 mutations in dystrophic epidermolysis bullosa and genotype-phenotype correlations
    Kern, JS
    Grüninger, G
    Bruckner-Tuderman, L
    Has, C
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2004, 123 (02)
  • [43] Detection of COL7A1 mutations causing dystrophic epidermolysis bullosa by denaturing-HPLC
    Castiglia, D
    Posteraro, P
    Pascucci, M
    Fusari, R
    Colombi, M
    Barlati, S
    Zambruno, G
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2005, 125 (03) : A25 - A25
  • [44] Novel and recurrent COL7A1 mutations in Chinese patients with dystrophic epidermolysis bullosa pruriginosa
    Zhu, K. J.
    Zhu, C. Y.
    Zhou, Y.
    Fan, Y. M.
    GENETICS AND MOLECULAR RESEARCH, 2014, 13 (03) : 7587 - 7592
  • [45] Two sisters with recessive dystrophic epidermolysis bullosa caused by novel variants in COL7A1
    Zhou, Mandi
    Zheng, Zhixin
    Teng, Jinglei
    Yang, Chao
    Zeng, Ming
    SKIN RESEARCH AND TECHNOLOGY, 2024, 30 (06)
  • [46] Mild recessive dystrophic epidermolysis bullosa associated with two compound heterozygous COL7A1 mutations
    Von Bartenwerffer, Wibke
    Has, Cristina
    Arin, Meral J.
    Tantcheva-Poor, Iliana
    Kreuter, Alexander
    Kremer, Kim
    Arshah, Tarek
    Hoffmann, Michael
    Eming, Sabine A.
    Kohlhase, Juergen
    Krieg, Thomas
    Bruckner-Tuderman, Leena
    Hartmann, Karin
    EUROPEAN JOURNAL OF DERMATOLOGY, 2011, 21 (02) : 170 - 172
  • [47] A Novel COL7A1 Mutation in a Patient With Dystrophic Epidermolysis Bullosa. Successful Treatment With Upadacitinib
    Lai, Shuqin
    Lin, Chunli
    Guo, Zimeng
    Lai, Yun
    Xie, Ling
    Wan, Chunlei
    Yang, Tao
    Li, Longnian
    CLINICAL COSMETIC AND INVESTIGATIONAL DERMATOLOGY, 2025, 18 : 183 - 190
  • [48] Predictable CRISPR/Cas9-Mediated COL7A1 Reframing for Dystrophic Epidermolysis Bullosa
    Kocher, Thomas
    March, Oliver Patrick
    Bischof, Johannes
    Liemberger, Bernadette
    Hainzl, Stefan
    Klausegger, Alfred
    Hoog, Anna
    Strunk, Dirk
    Bauer, Johann Wolfgang
    Koller, Ulrich
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2020, 140 (10) : 1985 - +
  • [49] Clustering of COL7A1 mutations in exon 73:: Implications for mutation analysis in dystrophic epidermolysis bullosa
    Mecklenbeck, S
    Hammami-Hauasli, N
    Höpfner, B
    Schumann, H
    Kramer, A
    Küster, W
    Bruckner-Tuderman, L
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 1999, 112 (03) : 398 - 400
  • [50] Spectrum of dominant and recessive glycine substitutions in the COL7A1 gene in dystrophic forms of epidermolysis bullosa
    Liu, Lu
    Ozoemena, L.
    Dopping-Hepenstal, P.
    Love, P.
    Mellerio, J.
    McGrath, J.
    JOURNAL OF MEDICAL GENETICS, 2007, 44 : S53 - S53
12345