Cargando…
Noonan syndrome‐associated biallelic LZTR1 mutations cause cardiac hypertrophy and vascular malformations in zebrafish
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‐mut...
Autores principales: | Nakagama, Yu, Takeda, Norihiko, Ogawa, Seishi, Takeda, Hiroyuki, Furutani, Yoshiyuki, Nakanishi, Toshio, Sato, Tatsuyuki, Hirata, Yoichiro, Oka, Akira, Inuzuka, Ryo |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2019
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7057116/ https://www.ncbi.nlm.nih.gov/pubmed/31883238 http://dx.doi.org/10.1002/mgg3.1107 |
Ejemplares similares
-
Autosomal Recessive Noonan Syndrome Associated with Biallelic
LZTR1Variants
por: Johnston, Jennifer J., et al.
Publicado: (2018) -
Delineation of dominant and recessive forms of LZTR1‐associated Noonan syndrome
por: Pagnamenta, Alistair T., et al.
Publicado: (2019) -
LZTR1 molecular genetic overlap with clinical implications for Noonan syndrome and schwannomatosis
por: Farncombe, Kirsten M., et al.
Publicado: (2022) -
Generation of a Mouse Model to Study the Noonan Syndrome Gene Lztr1 in the Telencephalon
por: Talley, Mary Jo, et al.
Publicado: (2021) -
Gowers’ intrasyringeal hemorrhage associated with Chiari type I malformation in Noonan syndrome
por: Mitsuhara, Takafumi, et al.
Publicado: (2014)