A new mouse model of Ehlers-Danlos syndrome generated using CRISPR/Cas9-mediated genomic editing

Musculocontractural Ehlers-Danlos syndrome (mcEDS) is caused by generalized depletion of dermatan sulfate (DS) due to biallelic pathogenic variants in CHST14 encoding dermatan 4-O-sulfotransferase 1 (D4ST1) (mcEDS-CHST14). Here, we generated mouse models for mcEDS-CHST14 carrying homozygous mutation...

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Detalles Bibliográficos
Autores principales: Nitahara-Kasahara, Yuko, Mizumoto, Shuji, Inoue, Yukiko U., Saka, Shota, Posadas-Herrera, Guillermo, Nakamura-Takahashi, Aki, Takahashi, Yuki, Hashimoto, Ayana, Konishi, Kohei, Miyata, Shinji, Masuda, Chiaki, Matsumoto, Emi, Maruoka, Yasunobu, Yoshizawa, Takahiro, Tanase, Toshiki, Inoue, Takayoshi, Yamada, Shuhei, Nomura, Yoshihiro, Takeda, Shin'ichi, Watanabe, Atsushi, Kosho, Tomoki, Okada, Takashi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Company of Biologists Ltd 2021
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8713987/
https://www.ncbi.nlm.nih.gov/pubmed/34850861
http://dx.doi.org/10.1242/dmm.048963

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