Cargando…
Disruption of PIKFYVE causes congenital cataract in human and zebrafish
Congenital cataract, an ocular disease predominantly occurring within the first decade of life, is one of the leading causes of blindness in children. However, the molecular mechanisms underlying the pathogenesis of congenital cataract remain incompletely defined. Through whole-exome sequencing of a...
Autores principales: | Mei, Shaoyi, Wu, Yi, Wang, Yan, Cui, Yubo, Zhang, Miao, Zhang, Tong, Huang, Xiaosheng, Yu, Sejie, Yu, Tao, Zhao, Jun |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
eLife Sciences Publications, Ltd
2022
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8758139/ https://www.ncbi.nlm.nih.gov/pubmed/35023829 http://dx.doi.org/10.7554/eLife.71256 |
Ejemplares similares
-
Case Report: A de novo Variant of CRYGC Gene Associated With Congenital Cataract and Microphthalmia
por: Peng, Yu, et al.
Publicado: (2022) -
Case Report: A Novel Mutation in the CRYGD Gene Causing Congenital Cataract Associated with Nystagmus in a Chinese Family
por: Gao, Yunxia, et al.
Publicado: (2022) -
One-step efficient generation of dual-function conditional knockout and geno-tagging alleles in zebrafish
por: Li, Wenyuan, et al.
Publicado: (2019) -
PIKfyve regulates melanosome biogenesis
por: Liggins, Marc C., et al.
Publicado: (2018) -
Start codon disruption with CRISPR/Cas9 prevents murine Fuchs’ endothelial corneal dystrophy
por: Uehara, Hironori, et al.
Publicado: (2021)