|
rs137852832
|
|
|
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 |
|
rs775883520
|
|
|
0.710 |
GeneticVariation |
BEFREE |
We propose that Asn242Ser is a founder mutation in the Iranian population, which might explain a significant proportion of JS cases from eastern Iran.
|
28719906 |
2017 |
|
rs775883520
|
|
G |
0.710 |
CausalMutation |
CLINVAR |
A Common Ancestral Asn242Ser Mutation in TMEM67 Identified in Multiple Iranian Families with Joubert Syndrome.
|
28719906 |
2017 |
|
rs137852832
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
Development of end-stage renal disease at a young age in two cases with Joubert syndrome.
|
25818971 |
2016 |
|
rs137852832
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
Next generation sequencing based identification of disease-associated mutations in Swiss patients with retinal dystrophies.
|
27353947 |
2016 |
|
rs121918198
|
|
G |
0.710 |
CausalMutation |
CLINVAR |
Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.
|
26092869 |
2015 |
|
rs137852832
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.
|
26092869 |
2015 |
|
rs775883520
|
|
G |
0.710 |
CausalMutation |
CLINVAR |
Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.
|
26092869 |
2015 |
|
rs137852832
|
|
A |
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 |
|
rs137852832
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
12q21 Microdeletion in a fetus with Meckel syndrome involving CEP290/MKS4.
|
23954617 |
2013 |
|
rs137852832
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
Ocular and extra-ocular features of patients with Leber congenital amaurosis and mutations in CEP290.
|
22355252 |
2012 |
|
rs137852832
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
Molecular characterization of Joubert syndrome in Saudi Arabia.
|
22693042 |
2012 |
|
rs121918198
|
|
G |
0.710 |
CausalMutation |
CLINVAR |
Genotype-phenotype correlation in 440 patients with NPHP-related ciliopathies.
|
21866095 |
2011 |
|
rs137852832
|
|
A |
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 |
|
rs137852832
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy.
|
21068128 |
2011 |
|
rs121918198
|
|
G |
0.710 |
CausalMutation |
CLINVAR |
A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies.
|
19430481 |
2009 |
|
rs121918198
|
|
G |
0.710 |
CausalMutation |
CLINVAR |
RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders.
|
18565097 |
2008 |
|
rs121918198
|
|
|
0.710 |
GeneticVariation |
BEFREE |
Our studies confirm that a T615P mutation represents the most common mutation in the RPGRIP1L gene causing disease in about 8-10% of JS type B patients negative for NPHP1, NPHP6, or AHI1 mutations.
|
17960139 |
2007 |
|
rs121918198
|
|
G |
0.710 |
CausalMutation |
CLINVAR |
The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome.
|
17558409 |
2007 |
|
rs121918198
|
|
G |
0.710 |
CausalMutation |
CLINVAR |
Our studies confirm that a T615P mutation represents the most common mutation in the RPGRIP1L gene causing disease in about 8-10% of JS type B patients negative for NPHP1, NPHP6, or AHI1 mutations.
|
17960139 |
2007 |
|
rs121918198
|
|
G |
0.710 |
CausalMutation |
CLINVAR |
Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome.
|
17558407 |
2007 |
|
rs137852832
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders.
|
17564967 |
2007 |
|
rs137852832
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4.
|
16682973 |
2006 |
|
rs137852832
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome.
|
16682970 |
2006 |
|
rs1213286417
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Combining targeted panel-based resequencing and copy-number variation analysis for the diagnosis of inherited syndromic retinopathies and associated ciliopathies.
|
29588463 |
2018 |