|
Oculocutaneous albinism type 1
|
0.700 |
Biomarker
|
disease |
BEFREE |
Thus, larval production of enzymatically active human tyrosinase potentially could be a useful tool in developing a cure for OCA1.
|
29870551 |
2018 |
|
Oculocutaneous albinism type 1
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Identification of a missense mutation in the tyrosinase gene in a Chinese family with oculocutaneous albinism type 1.
|
28112372 |
2017 |
|
Oculocutaneous albinism type 1
|
0.700 |
Biomarker
|
disease |
BEFREE |
However, the complete deglycosylation of asparagine residues in vitro, including the residue in position 371, interrupts tyrosinase function, which is consistent with a melanin loss in oculocutaneous albinism type 1 (OCA1) patients.
|
28858842 |
2017 |
|
Oculocutaneous albinism type 1
|
0.700 |
Biomarker
|
disease |
BEFREE |
Two subtypes of OCA1 have been described: severe OCA1A with complete absence of tyrosinase activity and less severe OCA1B with residual tyrosinase activity.
|
27775880 |
2017 |
|
Oculocutaneous albinism type 1
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Functional characterization of nonsynonymous tyrosinase variants in patients with OCA1 reported in the Albinism Database, dbSNP and the published literature, and an attempt to correlate them with reported and predicted phenotypes.
|
27537549 |
2016 |
|
Oculocutaneous albinism type 1
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Sequence analysis of tyrosinase gene in ocular and oculocutaneous albinism patients: introducing three novel mutations.
|
26167114 |
2015 |
|
Oculocutaneous albinism type 1
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
A comprehensive study of oculocutaneous albinism type 1 reveals three previously unidentified alleles on the TYR gene.
|
24721949 |
2015 |
|
Oculocutaneous albinism type 1
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Two novel tyrosinase (TYR) gene mutations with pathogenic impact on oculocutaneous albinism type 1 (OCA1).
|
25216246 |
2014 |
|
Oculocutaneous albinism type 1
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
This advance allows for the structure - function analyses of different mutant TYR proteins and correlation with their corresponding human phenotypes; it also provides an important tool to discover drugs that may improve tyrosinase activity and treat OCA1.
|
24392141 |
2014 |
|
Oculocutaneous albinism type 1
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
This study provided new information about a novel mutation, p.I151S, in the TYR gene in a Chinese family with OCA1.
|
22088535 |
2011 |
|
Oculocutaneous albinism type 1
|
0.700 |
Biomarker
|
disease |
BEFREE |
We hypothesized that increasing plasma tyrosine concentrations using nitisinone, an FDA-approved inhibitor of tyrosine degradation, could stabilize tyrosinase and improve pigmentation in individuals with OCA1.
|
21968110 |
2011 |
|
Oculocutaneous albinism type 1
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Ten common alleles account for 74.6% of the mutational TYR alleles in Chinese OCA1 patients.
|
19865097 |
2010 |
|
Oculocutaneous albinism type 1
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Three families with oculocutaneous albinism type 1 and 95 unrelated healthy Chinese individuals with normal pigmentation were screened for mutations in the TYR gene by direct sequencing.
|
20447099 |
2010 |
|
Oculocutaneous albinism type 1
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The Q402 allele has been associated with autosomal recessive ocular albinism when it is in trans with a tyrosinase gene mutation associated with oculocutaneous albinism type 1.
|
19208379 |
2009 |
|
Oculocutaneous albinism type 1
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the TYR gene (TYR, 11q14-21, MIM 606933) cause oculocutaneous albinism type 1 (OCA1, MIM 203100), a developmental disorder having an autosomal recessive mode of inheritance.
|
17355913 |
2007 |
|
Oculocutaneous albinism type 1
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Defects in the tyrosinase gene (TYR) cause a common type of OCA, known as oculocutaneous albinism type 1 (OCA1).
|
16907708 |
2006 |
|
Oculocutaneous albinism type 1
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Oculocutaneous albinism type 1 (OCA1) results from mutations in the tyrosinase gene, which lead to partial or complete loss of activity of the corresponding enzyme.
|
15937636 |
2005 |
|
Oculocutaneous albinism type 1
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Many mutations of the tyrosinase gene have been reported in oculocutaneous albinism type I (OCA1) patient.
|
15885985 |
2005 |
|
Oculocutaneous albinism type 1
|
0.700 |
Biomarker
|
disease |
BEFREE |
Mutations of the human tyrosinase gene cause the tyrosinase negative type I oculocutaneous albinism (OCAI).
|
15677452 |
2005 |
|
Oculocutaneous albinism type 1
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the Tyrosinase gene (TYR, 11q14-q21) cause oculocutaneous albinism type 1 (OCA1).
|
15895460 |
2005 |
|
Oculocutaneous albinism type 1
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Genetic analysis of oculocutaneous albinism type 1 (OCA1) in Indian families: two novel frameshift mutations in the TYR Gene.
|
15635296 |
2004 |
|
Oculocutaneous albinism type 1
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
A novel mutation of the tyrosinase gene causing oculocutaneous albinism type 1 (OCA1).
|
11858948 |
2002 |
|
Oculocutaneous albinism type 1
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Loss of function mutations in tyrosinase is the cause of oculocutaneous albinism 1.
|
12190874 |
2002 |
|
Oculocutaneous albinism type 1
|
0.700 |
Biomarker
|
disease |
CTD_human |
Identification of active site residues involved in metal cofactor binding and stereospecific substrate recognition in Mammalian tyrosinase. Implications to the catalytic cycle.
|
11781109 |
2002 |
|
Oculocutaneous albinism type 1
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We conclude that a significant component of mutant tyrosinase malfunction in OCA1 results from their retention and degradation in the ER compartment.
|
11284711 |
2001 |