Retinitis Pigmentosa
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Targeted next generation sequencing identified novel loss-of-function mutations in MERTK gene in Chinese patients with retinitis pigmentosa.
|
30790467 |
2019 |
Retinitis Pigmentosa
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the gene encoding MERTK cause blinding retinitis pigmentosa in humans.
|
30352873 |
2018 |
Retinitis Pigmentosa
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
This study identified a new autosomal recessive mutation in the RP-related gene MERTK, which expands the spectrum of RP disease-causing mutations.
|
29437494 |
2018 |
Retinitis Pigmentosa
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
In a rat model of Retinitis Pigmentosa due to MERTK mutation, we demonstrate that surgical removal of debris performed when about half of photoreceptors are lost (P38), allows the remaining photoreceptor cells to renew their outer segments and survive for at least 6 months - 3 times longer than in untreated eyes.
|
30054542 |
2018 |
Retinitis Pigmentosa
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We used fibroblast-derived induced pluripotent stem cells to generate retinal pigment epithelium (RPE) from an individual suffering from retinitis pigmentosa associated with biallelic variants in MERTK.
|
28246391 |
2017 |
Retinitis Pigmentosa
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
This study describes the molecular and clinical characterization of an arRP family segregating a novel 25 kb deletion of MERTK.
|
28324114 |
2017 |
Retinitis Pigmentosa
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Our study identifies a novel nonsense mutation in MERTK in a family with RP and no prior molecular diagnosis.
|
28462455 |
2017 |
Retinitis Pigmentosa
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
By filtering against public variant databases, a novel homozygous missense mutation (c.3G>A) localized in the start codon of the MERTK gene was detected as a potentially pathogenic mutation for autosomal recessive RP.
|
27122965 |
2016 |
Retinitis Pigmentosa
|
0.700 |
Biomarker
|
disease |
BEFREE |
After a preclinical phase confirming the safety of the study vector in monkeys, six patients (aged 14 to 54, mean 33.3 years) with MERTK-related RP and baseline visual acuity (VA) ranging from 20/50 to <20/6400 were entered in a phase I open-label, dose-escalation trial.
|
26825853 |
2016 |
Retinitis Pigmentosa
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Homozygosity mapping using Affymetrix 10K HMA GeneChip on the arRP family identified a novel nonsense mutation in MERTK.
|
26147992 |
2015 |
Retinitis Pigmentosa
|
0.700 |
Biomarker
|
disease |
BEFREE |
Human iPSC derived disease model of MERTK-associated retinitis pigmentosa.
|
26263531 |
2015 |
Retinitis Pigmentosa
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Identity-by-descent-guided mutation analysis and exome sequencing in consanguineous families reveals unusual clinical and molecular findings in retinal dystrophy.
|
24625443 |
2014 |
Retinitis Pigmentosa
|
0.700 |
Biomarker
|
disease |
BEFREE |
Preclinical potency and safety studies of an AAV2-mediated gene therapy vector for the treatment of MERTK associated retinitis pigmentosa.
|
23692380 |
2013 |
Retinitis Pigmentosa
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Previous research utilizing Mertk gene replacement therapy in RCS rats provided proof of concept for treatment of this form of recessive retinitis pigmentosa (RP); however, the beneficial effects on retinal function were transient.
|
22408006 |
2012 |
Retinitis Pigmentosa
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
MERTK mutations lead to severe retinitis pigmentosa with discrete dot-like autofluorescent deposits at early stages, which are a hallmark of this MERTK-specific dystrophy.
|
22180149 |
2012 |
Retinitis Pigmentosa
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Furthermore, homozygosity mapping and mutation analysis in the distant family member affected by RP revealed a homozygous mutation in MERTK, but no CEP290 mutations.
|
20130272 |
2010 |
Retinitis Pigmentosa
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Novel splice donor site mutation in MERTK gene associated with retinitis pigmentosa.
|
18815424 |
2008 |
Retinitis Pigmentosa
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Nuclear translocation of AIF was also observed in the apoptotic photoreceptors of Royal College of Surgeons rats, a well-known animal model of RP that carries a mutation of the Mertk gene.
|
18845835 |
2008 |
Retinitis Pigmentosa
|
0.700 |
GeneticVariation
|
disease |
LHGDN |
One arRP patient had a novel homozygous Leu12Pro missense mutation in the MERTK gene.
|
16710167 |
2006 |
Retinitis Pigmentosa
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
MERTK, a known disease gene for autosomal recessive RP located close to RP33 was similarly excluded.
|
16612614 |
2006 |
Retinitis Pigmentosa
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
MERTK arginine-844-cysteine in a patient with severe rod-cone dystrophy: loss of mutant protein function in transfected cells.
|
15111602 |
2004 |
Retinitis Pigmentosa
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Mutations in MERTK have also been described in patients with retinitis pigmentosa (RP).
|
12907141 |
2003 |
Retinitis Pigmentosa
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
These results, together with the recent discovery of MERTK mutations in individuals with retinitis pigmentosa, emphasize the importance of the RCS rat as a model for gene therapy of diseases that arise from RPE dysfunction.
|
11592982 |
2001 |
Retinitis Pigmentosa
|
0.700 |
Biomarker
|
disease |
CTD_human |
Mutations in MERTK, the human orthologue of the RCS rat retinal dystrophy gene, cause retinitis pigmentosa.
|
11062461 |
2000 |
Retinitis Pigmentosa
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Mutations in MERTK, the human orthologue of the RCS rat retinal dystrophy gene, cause retinitis pigmentosa.
|
11062461 |
2000 |