Article
Noonan syndrome-associated biallelic LZTR1 mutations cause cardiac hypertrophy and vascular malformations in zebrafish.
Molecular genetics & genomic medicine - 1 Mar 2020
Nakagama Yu, Takeda Norihiko, Ogawa Seishi, Takeda Hiroyuki, Furutani Yoshiyuki, Nakanishi Toshio, Sato Tatsuyuki, Hirata Yoichiro, Oka Akira, Inuzuka Ryo
Abstract excerpt
BACKGROUND: Variants in the LZTR1 (leucine-zipper-like transcription regulator 1) gene (OMIM #600574) have been reported in recessive Noonan syndrome patients. In vivo evidence from animal models to support its causative role is lacking. METHODS: By CRISPR-Cas9 genome editing, we generated lztr1-mutated zebrafish (Danio rerio). Analyses of histopathology and downstream signaling were performed to investigate the...
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