|
SNRNP200
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Clinical Characterization of Retinitis Pigmentosa Associated With Variants in SNRNP200.
|
31486839 |
2019 |
|
SNRNP200
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Genotype-Phenotype Analysis of a Novel Recessive and a Recurrent Dominant SNRNP200 Variant Causing Retinitis Pigmentosa.
|
31260034 |
2019 |
|
SNRNP200
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
In this article, we also report an unusual case of recessive retinitis pigmentosa due to compound heterozygous mutations in SNRNP200, a gene that is typically associated with the dominant form of this disease.
|
27735924 |
2017 |
|
SNRNP200
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Our data suggest that the RP mutations within the ratchet helix impair Brr2 translocation through RNA helices.
|
27072132 |
2016 |
|
SNRNP200
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations linked to retinitis pigmentosa (RP), a disease that causes blindness in humans, map to the Brr2 regulatory region of Prp8.
|
26968627 |
2016 |
|
SNRNP200
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Taken together, our data suggest that BRR2 is an important factor in 5'-splice-site recognition and that the RP-linked mutations c.3260C>T (p.S1087L) and c.3269G>T (p.R1090L) affect this BRR2 function.
|
24302620 |
2014 |
|
SNRNP200
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Contribution of SNRNP200 sequence variations to retinitis pigmentosa.
|
23887765 |
2013 |
|
SNRNP200
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Here we show that in human Brr2, two ring-like helicase cassettes intimately interact and functionally cooperate and how retinitis pigmentosa-linked Brr2 mutations interfere with the enzyme's function.
|
23045696 |
2012 |
|
SNRNP200
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Next generation sequencing of pooled samples reveals new SNRNP200 mutations associated with retinitis pigmentosa.
|
21618346 |
2011 |
|
SNRNP200
|
0.500 |
GeneticVariation
|
disease |
CLINVAR |
Autosomal-dominant retinitis pigmentosa caused by a mutation in SNRNP200, a gene required for unwinding of U4/U6 snRNAs.
|
19878916 |
2009 |
|
SNRNP200
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The DEAD-box protein Brr2 and the GTPase Snu114 bind to the Prp8 C terminus, a region where mutations in human Prp8 are linked to the RP13 form of Retinitis pigmentosa.
|
17317632 |
2007 |
|
SNRNP200
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
MERTK, a known disease gene for autosomal recessive RP located close to RP33 was similarly excluded.
|
16612614 |
2006 |
|
SNRNP200
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
SNRNP200
|
0.500 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|