Cargando…

Embryonic and foetal expression patterns of the ciliopathy gene CEP164

Nephronophthisis-related ciliopathies (NPHP-RC) are a group of inherited genetic disorders that share a defect in the formation, maintenance or functioning of the primary cilium complex, causing progressive cystic kidney disease and other clinical manifestations. Mutations in centrosomal protein 164...

Descripción completa

Detalles Bibliográficos
Autores principales:	Devlin, L. A., Ramsbottom, S. A., Overman, L. M., Lisgo, S. N., Clowry, G., Molinari, E., Powell, L., Miles, C. G., Sayer, J. A.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Public Library of Science 2020
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6986751/ https://www.ncbi.nlm.nih.gov/pubmed/31990917 http://dx.doi.org/10.1371/journal.pone.0221914

Ejemplares similares

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)

Molecular mechanisms underlying the role of the centriolar CEP164-TTBK2 complex in ciliopathies
por: Rosa e Silva, Ivan, et al.
Publicado: (2022)

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

Using zebrafish to study the function of nephronophthisis and related ciliopathy genes
por: Molinari, Elisa, et al.
Publicado: (2018)

Characterising a novel mouse model with a mutated ciliopathy gene (Cep290) leading to Joubert Syndrome
por: Hynes, AM, et al.
Publicado: (2012)

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

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)

Update of genetic variants in CEP120 and CC2D2A—With an emphasis on genotype‐phenotype correlations, tissue specific transcripts and exploring mutation specific exon skipping therapies
por: Barroso‐Gil, Miguel, et al.
Publicado: (2021)

Subtle left-right asymmetry of gene expression profiles in embryonic and foetal human brains
por: de Kovel, Carolien G. F., et al.
Publicado: (2018)

CEP164 Deficiency Causes Hyperproliferation of Pancreatic Cancer Cells
por: Kobayashi, Tetsuo, et al.
Publicado: (2020)

CEP164C regulates flagellum length in stable flagella
por: Atkins, Madison, et al.
Publicado: (2020)

Photoreceptor sensory cilia and ciliopathies: focus on CEP290, RPGR and their interacting proteins
por: Rachel, Rivka A, 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)

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

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

Nephronophthisis-Associated CEP164 Regulates Cell Cycle Progression, Apoptosis and Epithelial-to-Mesenchymal Transition
por: Slaats, Gisela G., et al.
Publicado: (2014)

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

A novel pathogenic variant of CEP164 in an infant with Senior‐Loken syndrome
por: Liu, Lili, et al.
Publicado: (2023)

Cep164, a novel centriole appendage protein required for primary cilium formation
por: Graser, Susanne, et al.
Publicado: (2007)

Cep164 mediates vesicular docking to the mother centriole during early steps of ciliogenesis
por: Schmidt, Kerstin N., et al.
Publicado: (2012)

Cep164, but not EB1, is critical for centriolar localization of TTBK2 and its function in ciliogenesis
por: Oda, Toshiaki, et al.
Publicado: (2015)

Deletion of CEP164 in mouse photoreceptors post-ciliogenesis interrupts ciliary intraflagellar transport (IFT)
por: Reed, Michelle, et al.
Publicado: (2022)

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

A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies
por: Shaheen, Ranad, et al.
Publicado: (2015)

Mouse genetics reveals Barttin as a genetic modifier of Joubert syndrome
por: Ramsbottom, Simon A., et al.
Publicado: (2020)

Distinct expression patterns for type II topoisomerases IIA and IIB in the early foetal human telencephalon
por: Harkin, Lauren F., et al.
Publicado: (2015)

A CEP104-CSPP1 Complex Is Required for Formation of Primary Cilia Competent in Hedgehog Signaling
por: Frikstad, Kari-Anne M., et al.
Publicado: (2019)

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

Conditional knockout mice for the distal appendage protein CEP164 reveal its essential roles in airway multiciliated cell differentiation
por: Siller, Saul S., et al.
Publicado: (2017)

CiliaMiner: an integrated database for ciliopathy genes and ciliopathies
por: Turan, Merve Gül, et al.
Publicado: (2023)

Targeted exon skipping rescues ciliary protein composition defects in Joubert syndrome patient fibroblasts
por: Molinari, Elisa, et al.
Publicado: (2019)

Loss of cilia causes embryonic lung hypoplasia, liver fibrosis, and cholestasis in the talpid(3) ciliopathy mutant
por: Davey, Megan G, et al.
Publicado: (2014)

Comparison of structural progression between ciliopathy and non-ciliopathy associated with autosomal recessive retinitis pigmentosa
por: Takahashi, Vitor K. L., et al.
Publicado: (2019)

The diagnostic yield of whole exome sequencing as a first approach in consanguineous Omani renal ciliopathy syndrome patients
por: Al Alawi, Intisar, et al.
Publicado: (2021)

Ciliopathies: an expanding disease spectrum
por: Waters, Aoife M., et al.
Publicado: (2011)

High-spin states in odd-odd $^{164}$Lu
por: Wang, X H, et al.
Publicado: (1996)

Cep70 and Cep131 contribute to ciliogenesis in zebrafish embryos
por: Wilkinson, Christopher J, et al.
Publicado: (2009)

Cannot write session to /tmp/vufind_sessions/sess_gbsqtp6bt4pgmhomi75tk5528e