Ciliopathies
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the gene Centrosomal Protein 290 kDa (CEP290) result in multiple ciliopathies ranging from the neonatal lethal disorder Meckel-Gruber Syndrome to multi-systemic disorders such as Joubert Syndrome and Bardet-Biedl Syndrome to nonsyndromic diseases like Leber Congenital Amaurosis (LCA) and retinitis pigmentosa.
|
30970040 |
2019 |
Ciliopathies
|
0.400 |
Biomarker
|
disease |
BEFREE |
The rodent models correspond to three emblematic ciliopathies, namely: Bardet-Biedl Syndrome (BBS), Alström Syndrome (ALMS) and CEP290-mediated Leber Congenital Amaurosis (LCA).
|
31302159 |
2019 |
Ciliopathies
|
0.400 |
Biomarker
|
disease |
BEFREE |
However, precise roles of CEP290 in photoreceptors and pathomechanisms of retinal degeneration in <i>CEP290</i>-associated ciliopathies are not sufficiently understood.
|
31694913 |
2019 |
Ciliopathies
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Our results provide phenotypic insight into the disease mechanisms of Cep290 ciliopathy mutations and also the tools for studying genotype/phenotype relationships in ciliopathies.
|
30930621 |
2018 |
Ciliopathies
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutations in CEP290 have been linked to a group of multi-organ disorders - termed ciliopathies.
|
30478281 |
2018 |
Ciliopathies
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
CEP290 mutations cause a spectrum of ciliopathies from Leber congenital amaurosis type 10 (LCA10) to embryo-lethal Meckel syndrome (MKS).
|
29771326 |
2018 |
Ciliopathies
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
CEP290, a gene mutated in several ciliopathies, encodes a protein that forms a complex with NPHP5 to support the function of the ciliary transition zone.
|
30035750 |
2018 |
Ciliopathies
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutations in CEP290, a transition zone protein in primary cilia, cause diverse ciliopathies, including Leber congenital amaurosis (LCA) and Joubert-syndrome and related disorders (JSRD).
|
28700940 |
2017 |
Ciliopathies
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Together with a physical interaction between RPGR and the C-terminal domain of CEP290, our data suggest that RPGR and CEP290 genetically interact and highlight the involvement of hypomorphic alleles of genes as potential modifiers of heterogeneous retinal ciliopathies.
|
26936822 |
2016 |
Ciliopathies
|
0.400 |
Biomarker
|
disease |
BEFREE |
Whereas centriolar maturation seemed unaffected in mutant cells, we observed an abnormal extended pattern of CEP290, a centriolar satellite protein previously associated with ciliopathies.
|
26166481 |
2015 |
Ciliopathies
|
0.400 |
Biomarker
|
disease |
BEFREE |
Together, our results provide a link between CEP290 and DNA replication stress and suggest CDK inhibition as a potential treatment strategy for a wide range of ciliopathy syndromes.
|
26301811 |
2015 |
Ciliopathies
|
0.400 |
Biomarker
|
disease |
BEFREE |
Our studies demonstrate domain-specific functions of CEP290 and provide novel therapeutic paradigms for ciliopathies.
|
25859007 |
2015 |
Ciliopathies
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the centrosomal protein of 290 kDa (CEP290) gene are associated with a spectrum of phenotypically distinct human diseases (the ciliopathies).
|
26062849 |
2015 |
Ciliopathies
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Particularly, mutations in CEP290 cause phenotypically diverse ciliopathies ranging from isolated retinal degeneration, nephronophthisis and Joubert syndrome, to the neonatal lethal Meckel-Gruber syndrome.
|
23943788 |
2014 |
Ciliopathies
|
0.400 |
Biomarker
|
disease |
BEFREE |
These data implicate CEP290 as an integral structural and regulatory component of the cilium and provide insight into the pathological mechanisms of LCA and related ciliopathies.
|
24051377 |
2013 |
Ciliopathies
|
0.400 |
Biomarker
|
disease |
BEFREE |
We identify Cep72 as a PCM1-interacting protein required for recruitment of the ciliopathy-associated protein Cep290 to centriolar satellites.
|
22767577 |
2012 |
Ciliopathies
|
0.400 |
Biomarker
|
disease |
BEFREE |
Combining Cep290 and Mkks ciliopathy alleles in mice rescues sensory defects and restores ciliogenesis.
|
22446187 |
2012 |
Ciliopathies
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The most common molecular form is a ciliopathy due to NPHP6 (CEP290) mutations and subjects have profound loss of vision.
|
21245082 |
2011 |
Ciliopathies
|
0.400 |
Biomarker
|
disease |
BEFREE |
Accumulation of the Raf-1 kinase inhibitory protein (Rkip) is associated with Cep290-mediated photoreceptor degeneration in ciliopathies.
|
21685394 |
2011 |
Ciliopathies
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
One of the most intriguing disease genes associated with ciliopathies is CEP290, in which mutations cause a wide variety of distinct phenotypes, ranging from isolated blindness over Senior-Loken syndrome (SLS), nephronophthisis (NPHP), Joubert syndrome (related disorders) (JS[RD]), Bardet-Biedl syndrome (BBS), to the lethal Meckel-Grüber syndrome (MKS).
|
20690115 |
2010 |
Ciliopathies
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
CHF is invariably found also in Meckel syndrome (MS), a lethal ciliopathy already found to be allelic with JSRDs at the CEP290 and RPGRIP1L genes.
|
19058225 |
2009 |
Ciliopathies
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Expanding CEP290 mutational spectrum in ciliopathies.
|
19764032 |
2009 |
Ciliopathies
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
In ciliated cells, we observe localization of recombinant CC2D2A at the basal body and colocalization with CEP290, whose cognate gene is mutated in multiple hereditary ciliopathies.
|
18950740 |
2008 |
Ciliopathies
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Our findings add to the increasing body of evidence that ciliopathies can cause a broad spectrum of disease phenotypes, and pleiotropic effects of CEP290 mutations range from single organ involvement with isolated Leber congenital amaurosis to Joubert syndrome and lethal early embryonic multisystemic malformations in Meckel-Gruber syndrome.
|
17705300 |
2008 |
Ciliopathies
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutations in CEP290 mutations are responsible for the cerebello-oculo-renal subtype of JS that includes kidney cysts and retinal degeneration, two phenotypes commonly linked to ciliopathies.
|
18772192 |
2008 |