×
Entrez Id:
80184
Gene Symbol:
CEP290
CEP290
0.910
GeneticVariation
disease
BEFREE
We examined primary cilium structure and composition in fibroblast cells derived from homozygous and compound heterozygous JBTS5 patients with nonsense mutations in CEP290 and show that elongation of cilia, impaired ciliogenesis and ciliary composition defects are typical features in JBTS5 cells.
31346239
2019
×
Entrez Id:
80184
Gene Symbol:
CEP290
CEP290
0.910
Biomarker
disease
GENOMICS_ENGLAND
Joubert Syndrome: Ophthalmological Findings in Correlation with Genotype and Hepatorenal Disease in 99 Patients Prospectively Evaluated at a Single Center.
30055837
2018
×
Entrez Id:
80184
Gene Symbol:
CEP290
CEP290
0.910
CausalMutation
disease
CLINVAR
Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.
26092869
2015
×
Entrez Id:
80184
Gene Symbol:
CEP290
CEP290
0.910
GeneticVariation
disease
UNIPROT
Joubert Syndrome in French Canadians and Identification of Mutations in CEP104.
26477546
2015
×
Entrez Id:
80184
Gene Symbol:
CEP290
CEP290
0.910
Biomarker
disease
MGD
DNA replication stress underlies renal phenotypes in CEP290-associated Joubert syndrome.
26301811
2015
×
Entrez Id:
80184
Gene Symbol:
CEP290
CEP290
0.910
GeneticVariation
disease
UNIPROT
Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome.
26166481
2015
×
Entrez Id:
80184
Gene Symbol:
CEP290
CEP290
0.910
Biomarker
disease
MGD
Murine Joubert syndrome reveals Hedgehog signaling defects as a potential therapeutic target for nephronophthisis.
24946806
2014
×
Entrez Id:
80184
Gene Symbol:
CEP290
CEP290
0.910
GeneticVariation
disease
UNIPROT
Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population.
22425360
2012
×
Entrez Id:
80184
Gene Symbol:
CEP290
CEP290
0.910
Biomarker
disease
MGD
Defective Wnt-dependent cerebellar midline fusion in a mouse model of Joubert syndrome.
21623382
2011
×
Entrez Id:
80184
Gene Symbol:
CEP290
CEP290
0.910
Biomarker
disease
GENOMICS_ENGLAND
CEP290, a gene with many faces: mutation overview and presentation of CEP290base.
20690115
2010
×
Entrez Id:
80184
Gene Symbol:
CEP290
CEP290
0.910
Biomarker
disease
GENOMICS_ENGLAND
Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome.
18327255
2008
×
Entrez Id:
80184
Gene Symbol:
CEP290
CEP290
0.910
CausalMutation
disease
CLINVAR
High NPHP1 and NPHP6 mutation rate in patients with Joubert syndrome and nephronophthisis: potential epistatic effect of NPHP6 and AHI1 mutations in patients with NPHP1 mutations.
17409309
2007
×
Entrez Id:
80184
Gene Symbol:
CEP290
CEP290
0.910
Biomarker
disease
GENOMICS_ENGLAND
Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome.
17564974
2007
×
Entrez Id:
80184
Gene Symbol:
CEP290
CEP290
0.910
Biomarker
disease
GENOMICS_ENGLAND
Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype.
17345604
2007
×
Entrez Id:
80184
Gene Symbol:
CEP290
CEP290
0.910
Biomarker
disease
GENOMICS_ENGLAND
Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis.
16909394
2006
×
Entrez Id:
80184
Gene Symbol:
CEP290
CEP290
0.910
GeneticVariation
disease
UNIPROT
The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4.
16682973
2006
×
Entrez Id:
80184
Gene Symbol:
CEP290
CEP290
0.910
GeneticVariation
disease
UNIPROT
Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome.
16682970
2006
×
Entrez Id:
80184
Gene Symbol:
CEP290
CEP290
0.910
Biomarker
disease
CTD_human
×
Entrez Id:
80184
Gene Symbol:
CEP290
CEP290
0.910
GeneticVariation
disease
CLINVAR