Familial aplasia of the vermis
|
|
0.710 |
GeneticVariation
|
BEFREE |
By studying patient biopsies, patient-derived kidney cells, and a mouse model, we identify abnormal elongation of primary cilia as a key pathophysiological feature of <i>CEP290</i>-associated JBTS and show that antisense oligonucleotide (ASO)-induced splicing of the mutated exon (41, G1890*) restores protein expression in patient cells.
|
30446612 |
2018 |
Familial aplasia of the vermis
|
|
0.710 |
CausalMutation
|
CLINVAR |
Development of end-stage renal disease at a young age in two cases with Joubert syndrome.
|
25818971 |
2016 |
Familial aplasia of the vermis
|
|
0.710 |
CausalMutation
|
CLINVAR |
Next generation sequencing based identification of disease-associated mutations in Swiss patients with retinal dystrophies.
|
27353947 |
2016 |
Familial aplasia of the vermis
|
|
0.710 |
CausalMutation
|
CLINVAR |
Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.
|
26092869 |
2015 |
Familial aplasia of the vermis
|
|
0.710 |
CausalMutation
|
CLINVAR |
Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies.
|
23591405 |
2014 |
Familial aplasia of the vermis
|
|
0.710 |
CausalMutation
|
CLINVAR |
12q21 Microdeletion in a fetus with Meckel syndrome involving CEP290/MKS4.
|
23954617 |
2013 |
Familial aplasia of the vermis
|
|
0.710 |
CausalMutation
|
CLINVAR |
Ocular and extra-ocular features of patients with Leber congenital amaurosis and mutations in CEP290.
|
22355252 |
2012 |
Familial aplasia of the vermis
|
|
0.710 |
CausalMutation
|
CLINVAR |
Molecular characterization of Joubert syndrome in Saudi Arabia.
|
22693042 |
2012 |
Familial aplasia of the vermis
|
|
0.710 |
CausalMutation
|
CLINVAR |
Cone photoreceptors are the main targets for gene therapy of NPHP5 (IQCB1) or NPHP6 (CEP290) blindness: generation of an all-cone Nphp6 hypomorph mouse that mimics the human retinal ciliopathy.
|
21245082 |
2011 |
Familial aplasia of the vermis
|
|
0.710 |
CausalMutation
|
CLINVAR |
Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy.
|
21068128 |
2011 |
Familial aplasia of the vermis
|
|
0.710 |
CausalMutation
|
CLINVAR |
CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders.
|
17564967 |
2007 |
Familial aplasia of the vermis
|
|
0.710 |
CausalMutation
|
CLINVAR |
The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4.
|
16682973 |
2006 |
Familial aplasia of the vermis
|
|
0.710 |
CausalMutation
|
CLINVAR |
Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome.
|
16682970 |
2006 |
Retinitis Pigmentosa
|
|
0.700 |
CausalMutation
|
CLINVAR |
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
|
30718709 |
2019 |
Meckel-Gruber syndrome
|
|
0.700 |
CausalMutation
|
CLINVAR |
Development of end-stage renal disease at a young age in two cases with Joubert syndrome.
|
25818971 |
2016 |
Nephronophthisis
|
|
0.700 |
CausalMutation
|
CLINVAR |
Next generation sequencing based identification of disease-associated mutations in Swiss patients with retinal dystrophies.
|
27353947 |
2016 |
Meckel-Gruber syndrome
|
|
0.700 |
CausalMutation
|
CLINVAR |
Next generation sequencing based identification of disease-associated mutations in Swiss patients with retinal dystrophies.
|
27353947 |
2016 |
Nephronophthisis
|
|
0.700 |
CausalMutation
|
CLINVAR |
Development of end-stage renal disease at a young age in two cases with Joubert syndrome.
|
25818971 |
2016 |
Meckel-Gruber syndrome
|
|
0.700 |
CausalMutation
|
CLINVAR |
Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.
|
26092869 |
2015 |
JOUBERT SYNDROME 5
|
|
0.700 |
CausalMutation
|
CLINVAR |
Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.
|
26092869 |
2015 |
Nephronophthisis
|
|
0.700 |
CausalMutation
|
CLINVAR |
Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.
|
26092869 |
2015 |
Nephronophthisis
|
|
0.700 |
CausalMutation
|
CLINVAR |
Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies.
|
23591405 |
2014 |
Meckel-Gruber syndrome
|
|
0.700 |
CausalMutation
|
CLINVAR |
Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies.
|
23591405 |
2014 |
Nephronophthisis
|
|
0.700 |
CausalMutation
|
CLINVAR |
12q21 Microdeletion in a fetus with Meckel syndrome involving CEP290/MKS4.
|
23954617 |
2013 |
Meckel-Gruber syndrome
|
|
0.700 |
CausalMutation
|
CLINVAR |
12q21 Microdeletion in a fetus with Meckel syndrome involving CEP290/MKS4.
|
23954617 |
2013 |