Cargando…
Murine Cep290 phenotypes are modified by genetic backgrounds and provide an impetus for investigating disease modifier alleles
The study of primary cilia is of broad interest both in terms of disease pathogenesis and the fundamental biological role of these structures. Murine models of ciliopathies provide valuable tools for the study of these diseases. However, it is important to consider the precise phenotype of murine mo...
Autores principales: | Ramsbottom, Simon, Miles, Colin, Sayer, John |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
F1000Research
2015
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4648220/ https://www.ncbi.nlm.nih.gov/pubmed/26594343 http://dx.doi.org/10.12688/f1000research.6959.1 |
Ejemplares similares
-
From disease modelling to personalised therapy in patients with
CEP290 mutations
por: Molinari, Elisa, et al.
Publicado: (2017) -
Genetic Screening of LCA in Belgium: Predominance of CEP290 and Identification of Potential Modifier Alleles in AHI1 of CEP290-related Phenotypes
por: Coppieters, Frauke, et al.
Publicado: (2010) -
Targeted exon skipping of a CEP290 mutation rescues Joubert syndrome phenotypes in vitro and in a murine model
por: Ramsbottom, Simon A., et al.
Publicado: (2018) -
Alternative splicing in CEP290 mutant cats results in a milder phenotype than LCA
(CEP290)
patients
por: Minella, Andrea L., et al.
Publicado: (2022) -
Reciprocal rescue of sensory cell cilia defects by Cep290 and Mkks alleles
por: May-Simera, H, et al.
Publicado: (2012)