|
Albinism
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Ray's characterization of visual pathway anomalies in this temperature sensitive mutation of tyrosinase and thus melanin synthesis in domestic cats opened the exploration of albinism and simultaneously, a genetic approach to the organization of neural circuitry.
|
30801828 |
2019 |
|
Albinism
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Homozygous or compound heterozygous mutations in the tyrosinase (TYR) gene can cause OCA1, which is the most common and severe subtype of albinism.
|
29658579 |
2018 |
|
Albinism
|
0.400 |
Biomarker
|
disease |
BEFREE |
Tyrosinase, a copper-containing enzyme existing widely in plants, animals and microorganisms, usually serves as an important biomarker in melanoma, and is also related to hyperpigmentation of the skin, melasma, age spots and albinism.
|
30467562 |
2018 |
|
Albinism
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Functional validation of the albinism-associated tyrosinase T373K SNP by CRISPR/Cas9-mediated homology-directed repair (HDR) in rabbits.
|
30274819 |
2018 |
|
Albinism
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Although the candidate gene SLC45A2 is known to be involved in albinism in different species, to date in cattle only mutations in the TYR and MITF genes were reported to be associated with albinism or albinism-like phenotypes.
|
28982372 |
2017 |
|
Albinism
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The results are consistent with clinical data, which indicates that OCA1A mutations inactivate tyrosinase and result in severe phenotype, while OCA1B mutations partially inactivate tyrosinase and result in OCA1B albinism.
|
27775880 |
2017 |
|
Albinism
|
0.400 |
Biomarker
|
disease |
BEFREE |
OCA1 is the most common cause of albinism in European populations and is inherited through autosomal recessive mutations in the Tyrosinase (TYR) gene.
|
28667292 |
2017 |
|
Albinism
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutations at the active binding site in tyrosinase impair structural stability and cause lethal albinism by abolishing copper binding.
|
28640309 |
2017 |
|
Albinism
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the tyrosinase (Tyr) gene are known to cause recessive albinism in humans and other species.
|
28484254 |
2017 |
|
Albinism
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The aim of this study was to identify the genetic mutation responsible for the albinism in a captive capuchin monkey, and to describe the TYR gene of normal phenotype individuals.
|
28476152 |
2017 |
|
Albinism
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The very rare TYR p.V275F variant, which is a pathogenic allele for recessive albinism, was more common in PD cases than controls in 3 independent cohorts.
|
27640074 |
2016 |
|
Albinism
|
0.400 |
Biomarker
|
disease |
BEFREE |
This retrospective review identified 170 individuals with a specific type of albinism identified by mutation(s) in a gene known to cause albinism (for OCA1, OCA2, and Hermansky-Pudlak syndrome ([HPS]) or a specific phenotype (white hair and no melanin pigment in OCA1A; pigmentary mosaicism in the obligate carriers for males with OA1).
|
27647118 |
2016 |
|
Albinism
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Documentation documents that mutation in two essentially vital serine residues in C-terminal end of tyrosinase leads to albinism.
|
27450914 |
2016 |
|
Albinism
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Functional assessment of tyrosinase variants identified in individuals with albinism is essential for unequivocal determination of genotype-to-phenotype correlation.
|
27537549 |
2016 |
|
Albinism
|
0.400 |
Biomarker
|
disease |
BEFREE |
OCA1 is the most severe form of albinism, and is caused by mutations in the tyrosinase (TYR) gene, while OCA4 is caused due to mutations in SLC45A2.
|
25703744 |
2015 |
|
Albinism
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
TYR gene mutations were identified in 14 (app.60%) albinism patients.
|
26167114 |
2015 |
|
Albinism
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Albinism-causing mutations in recombinant human tyrosinase alter intrinsic enzymatic activity.
|
24392141 |
2014 |
|
Albinism
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Finally, we review the TYR p.R402Q temperature-sensitive variant and confirm its association with cases of albinism with only one identifiable TYR mutation.
|
23504663 |
2013 |
|
Albinism
|
0.400 |
Biomarker
|
disease |
RGD |
Efficient gene targeting by TAL effector nucleases coinjected with exonucleases in zygotes.
|
23409244 |
2013 |
|
Albinism
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutation spectrum of the TYR and SLC45A2 genes in patients with oculocutaneous albinism.
|
22294196 |
2012 |
|
Albinism
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
DNA samples from 45 patients with ocular manifestations of albinism were analyzed by direct sequencing analysis of five genes responsible for albinism: TYR, P, TYRP1, SLC45A2 (MATP), and OA1.
|
20861488 |
2011 |
|
Albinism
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Tyrosinase (TYR) is a key pigmentation gene that is highly polymorphic and responsible for the most common form of autosomal recessive albinism, OCA1.
|
21906913 |
2011 |
|
Albinism
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We conclude that the codon 402 variant of the tyrosinase gene is not associated with albinism.
|
19208379 |
2009 |
|
Albinism
|
0.400 |
Biomarker
|
disease |
BEFREE |
This study was conducted to test whether such residual abnormalities can also be identified in human carriers of oculocutaneous tyrosinase-related albinism (OCA1a).
|
18296661 |
2008 |
|
Albinism
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Detection of 53 novel DNA variations within the tyrosinase gene and accumulation of mutations in 17 patients with albinism.
|
15146472 |
2004 |