Retinitis Pigmentosa
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Usher Syndrome 2 (USH2): Moderate to severe congenital sensorineural hearing loss on audiometry (predominantly for higher frequencies), normal vestibular function, and typical RP (onset by 20 years of age); accounts for about 26% of all Usher cases.
|
30578505 |
2019 |
Retinitis Pigmentosa
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
|
30718709 |
2019 |
Retinitis Pigmentosa
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
|
30718709 |
2019 |
Retinitis Pigmentosa
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Generation of an induced pluripotent stem cell line (FRIMOi002-A) from a retinitis pigmentosa patient carrying compound heterozygous mutations in USH2A gene.
|
30685615 |
2019 |
Retinitis Pigmentosa
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The early retinal organoids derived from the RP patient with the USH2A mutation exhibited significant defects in terms of morphology, immunofluorescence staining and transcriptional profiling.
|
31481876 |
2019 |
Retinitis Pigmentosa
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Generation of an iPSC line, INMi001-A, carrying the two most common USH2A mutations from a compound heterozygote with non-syndromic retinitis pigmentosa.
|
30453153 |
2018 |
Retinitis Pigmentosa
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Mutations in USH2A are the most frequent cause of Usher syndrome and autosomal recessive nonsyndromic retinitis pigmentosa.
|
29777677 |
2018 |
Retinitis Pigmentosa
|
0.700 |
Biomarker
|
disease |
BEFREE |
Generation of an iPS cell line via a non-integrative method using urine-derived cells from a patient with USH2A-associated retinitis pigmentosa.
|
29660607 |
2018 |
Retinitis Pigmentosa
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Mutations in USH2A cause both isolated Retinitis Pigmentosa (RP) and Usher syndrome (that implies RP and hearing impairment).
|
29912909 |
2018 |
Retinitis Pigmentosa
|
0.700 |
Biomarker
|
disease |
BEFREE |
In summary, for the first time, we generated a ush2a knockout zebrafish line with auditory disorder and retinal degeneration which mimicked the symptoms of patients, and revealed that disruption of fibronectin assembly may be one of the factors underlying RP.
|
30242501 |
2018 |
Retinitis Pigmentosa
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Two non-syndromic RP and 11 USH2 patients with previously identified USH2A mutations were included.
|
28678594 |
2018 |
Retinitis Pigmentosa
|
0.700 |
Biomarker
|
disease |
BEFREE |
USH2A can cause retinitis pigmentosa (RP) with or without hearing loss.
|
29899460 |
2018 |
Retinitis Pigmentosa
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Four patients had autosomal recessive RP (four with USH2A mutations).
|
27880076 |
2017 |
Retinitis Pigmentosa
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Mutations in Usherin 2A (USH2A) are not only a frequent cause of Usher syndrome, but also nonsyndromic RP.
|
28894305 |
2017 |
Retinitis Pigmentosa
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Combined retinal degeneration and sensorineural hearing impairment is mostly due to autosomal recessive Usher syndrome (USH1: congenital deafness, early retinitis pigmentosa (RP); USH2: progressive hearing impairment, RP).
|
28944237 |
2017 |
Retinitis Pigmentosa
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Consecutive patients with Usher syndrome type IIa (n = 152) and nonsyndromic RP (n = 73) resulting from USH2A mutations from ophthalmogenetic clinics in the Netherlands and Belgium.
|
26927203 |
2016 |
Retinitis Pigmentosa
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Mutations in USH2A are a common cause of Retinitis Pigmentosa (RP).
|
25823529 |
2015 |
Retinitis Pigmentosa
|
0.700 |
Biomarker
|
disease |
BEFREE |
Three clinical subtypes (USH1, USH2, and USH3) are described, of which USH1 is the most severe form, characterized by congenital profound deafness, constant vestibular dysfunction, and a prepubertal onset of retinitis pigmentosa.
|
25798947 |
2015 |
Retinitis Pigmentosa
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Recessive variants in the USH2A gene are an important cause of both Usher syndrome and nonsyndromic retinitis pigmentosa.
|
24607488 |
2014 |
Retinitis Pigmentosa
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Targeted next-generation sequencing reveals novel USH2A mutations associated with diverse disease phenotypes: implications for clinical and molecular diagnosis.
|
25133613 |
2014 |
Retinitis Pigmentosa
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Novel deletions involving the USH2A gene in patients with Usher syndrome and retinitis pigmentosa.
|
25352746 |
2014 |
Retinitis Pigmentosa
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Exome sequencing of index patients with retinal dystrophies as a tool for molecular diagnosis.
|
23940504 |
2013 |
Retinitis Pigmentosa
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies.
|
24265693 |
2013 |
Retinitis Pigmentosa
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Novel USH2A mutations in Japanese Usher syndrome type 2 patients: marked differences in the mutation spectrum between the Japanese and other populations.
|
21593743 |
2011 |
Retinitis Pigmentosa
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The results further support that mutations of USH2A are also responsible for non-syndromic RP.
|
21686329 |
2011 |