Cargando…

Characterising a novel mouse model with a mutated ciliopathy gene (Cep290) leading to Joubert Syndrome

Detalles Bibliográficos
Autores principales:	Hynes, AM, Miller, CA, Eley, L, Simms, RJ, White, K, Miles, C, Sayer, JA
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2012
Materias:	Poster Presentation
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3555904/ http://dx.doi.org/10.1186/2046-2530-1-S1-P89

Ejemplares similares

Investigating Embryonic Expression Patterns and Evolution of AHI1 and CEP290 Genes, Implicated in Joubert Syndrome
por: Cheng, Yu-Zhu, et al.
Publicado: (2012)

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)

Exploring the genetics of nephronophthisis and Joubert Syndrome…more than monogenic cystic renal diseases?!
por: Simms, RJ, et al.
Publicado: (2012)

Eupatilin Improves Cilia Defects in Human CEP290 Ciliopathy Models
por: Corral-Serrano, Julio C., et al.
Publicado: (2023)

Eupatilin improves cilia defects in human CEP290 ciliopathy models
por: Corral-Serrano, JC, et al.
Publicado: (2023)

Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes
por: Roosing, Susanne, et al.
Publicado: (2016)

Photoreceptor sensory cilia and ciliopathies: focus on CEP290, RPGR and their interacting proteins
por: Rachel, Rivka A, et al.
Publicado: (2012)

Nephronophthisis: A Genetically Diverse Ciliopathy
por: Simms, Roslyn J., et al.
Publicado: (2011)

Case Report: Identification of likely recurrent CEP290 mutation in a child with Joubert syndrome and cerebello-retinal-renal features.
por: Spahiu, Lidvana, et al.
Publicado: (2023)

Novel biallelic loss-of-function variants in CEP290 cause Joubert syndrome in two siblings
por: Wang, Xiang, et al.
Publicado: (2020)

Embryonic and foetal expression patterns of the ciliopathy gene CEP164
por: Devlin, L. A., et al.
Publicado: (2020)

Super-resolution microscopy reveals photoreceptor-specific subciliary location and function of ciliopathy-associated protein CEP290
por: Potter, Valencia L., et al.
Publicado: (2021)

Murine Cep290 phenotypes are modified by genetic backgrounds and provide an impetus for investigating disease modifier alleles
por: Ramsbottom, Simon, et al.
Publicado: (2015)

From disease modelling to personalised therapy in patients with CEP290 mutations
por: Molinari, Elisa, et al.
Publicado: (2017)

Alternative splicing in CEP290 mutant cats results in a milder phenotype than LCA (CEP290) patients
por: Minella, Andrea L., et al.
Publicado: (2022)

Expression patterns of ciliopathy genes ARL3 and CEP120 reveal roles in multisystem development
por: Powell, L., et al.
Publicado: (2020)

Biallelic variants in CEP164 cause a motile ciliopathy‐like syndrome
por: Devlin, Laura A., et al.
Publicado: (2022)

Insights Gained From Zebrafish Models for the Ciliopathy Joubert Syndrome
por: Rusterholz, Tamara D. S., et al.
Publicado: (2022)

TMEM218 dysfunction causes ciliopathies, including Joubert and Meckel syndromes
por: Van De Weghe, Julie C., et al.
Publicado: (2020)

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)

Aggresome assembly at the centrosome is driven by CP110–CEP97–CEP290 and centriolar satellites
por: Prosser, Suzanna L., et al.
Publicado: (2022)

Genetic compensation for cilia defects in cep290 mutants by upregulation of cilia-associated small GTPases
por: Cardenas-Rodriguez, Magdalena, et al.
Publicado: (2021)

CEP290 is essential for the initiation of ciliary transition zone assembly
por: Wu, Zhimao, et al.
Publicado: (2020)

Joubert syndrome and related disorders: a paradigm to understand splitting and lumping in ciliopathies
por: Valente, EM
Publicado: (2012)

The molecular genetics of Joubert syndrome and related ciliopathies: The challenges of genetic and phenotypic heterogeneity
por: Parisi, Melissa A.
Publicado: (2019)

Loss of CBY1 results in a ciliopathy characterized by features of Joubert syndrome
por: Epting, Daniel, et al.
Publicado: (2020)

CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium
por: Lee, Ji Eun, et al.
Publicado: (2012)

The centriolar satellite proteins Cep72 and Cep290 interact and are required for recruitment of BBS proteins to the cilium
por: Stowe, Timothy R., et al.
Publicado: (2012)

CEP290 is required for photoreceptor ciliogenesis and other cilia related functions
por: Rachel, RA, et al.
Publicado: (2012)

Knockout of the CEP290 gene in human induced pluripotent stem cells
por: Fogerty, Joseph, et al.
Publicado: (2021)

The N-terminal region of centrosomal protein 290 (CEP290) restores vision in a zebrafish model of human blindness
por: Baye, Lisa M., et al.
Publicado: (2011)

Reciprocal rescue of sensory cell cilia defects by Cep290 and Mkks alleles
por: May-Simera, H, et al.
Publicado: (2012)

MKS5 and CEP290 Dependent Assembly Pathway of the Ciliary Transition Zone
por: Li, Chunmei, et al.
Publicado: (2016)

A Report on Children with CEP290 Mutation, Vision Loss, and Developmental Delay
por: Sahli, Esra, et al.
Publicado: (2023)

The Ciliopathy-Associated Cep104 Protein Interacts with Tubulin and Nek1 Kinase
por: Al-Jassar, Caezar, et al.
Publicado: (2017)

Unexpected CEP290 mRNA Splicing in a Humanized Knock-In Mouse Model for Leber Congenital Amaurosis
por: Garanto, Alejandro, et al.
Publicado: (2013)

Ocular and extra-ocular features of patients with Leber congenital amaurosis and mutations in CEP290
por: Yzer, Suzanne, et al.
Publicado: (2012)

A Rare Form of Retinal Dystrophy Caused by Hypomorphic Nonsense Mutations in CEP290
por: Roosing, Susanne, et al.
Publicado: (2017)

A Mild Phenotype Caused by Two Novel Compound Heterozygous Mutations in CEP290
por: Rafalska, Agnieszka, et al.
Publicado: (2020)

An early onset cone dystrophy due to CEP290 mutation: a case report
por: Binder, Anastasia, et al.
Publicado: (2023)

Cannot write session to /tmp/vufind_sessions/sess_mnr4ucdcte63tmeo15l5o5o6u8