|
Albinism, Oculocutaneous
|
0.900 |
Biomarker
|
disease |
BEFREE |
The tyrosinase gene is known to be involved in both oculocutaneous albinism and autosomal recessive ocular albinism.
|
26167114 |
2015 |
|
Albinism, Oculocutaneous
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Sequence analysis of tyrosinase gene in ocular and oculocutaneous albinism patients: introducing three novel mutations.
|
26167114 |
2015 |
|
Albinism, Oculocutaneous
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Mutational Analysis of the TYR and OCA2 Genes in Four Chinese Families with Oculocutaneous Albinism.
|
25919014 |
2015 |
|
Albinism, Oculocutaneous
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
A comprehensive study of oculocutaneous albinism type 1 reveals three previously unidentified alleles on the TYR gene.
|
24721949 |
2015 |
|
Albinism, Oculocutaneous
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Mutational spectrum of the TYR and SLC45A2 genes in Pakistani families with oculocutaneous albinism, and potential founder effect of missense substitution (p.Arg77Gln) of tyrosinase.
|
25703744 |
2015 |
|
Albinism, Oculocutaneous
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
A comprehensive study of oculocutaneous albinism type 1 reveals three previously unidentified alleles on the TYR gene.
|
24721949 |
2015 |
|
Albinism, Oculocutaneous
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Molecular analysis identified two compound heterozygous TYR mutations known to cause OCAIA and cosegregate with oculocutaneous albinism.
|
25687215 |
2015 |
|
Albinism, Oculocutaneous
|
0.900 |
Biomarker
|
disease |
BEFREE |
OCA type 1 (OCA1) is the most serious and common type of OCA.
|
24721949 |
2015 |
|
Albinism, Oculocutaneous
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Two novel tyrosinase (TYR) gene mutations with pathogenic impact on oculocutaneous albinism type 1 (OCA1).
|
25216246 |
2014 |
|
Albinism, Oculocutaneous
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Two novel tyrosinase (TYR) gene mutations with pathogenic impact on oculocutaneous albinism type 1 (OCA1).
|
25216246 |
2014 |
|
Albinism, Oculocutaneous
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Identification of a novel mutation (p.Ile198Thr) in gene TYR in a Pakistani family with nonsyndromic oculocutaneous albinism.
|
24934919 |
2014 |
|
Albinism, Oculocutaneous
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Oculocutaneous albinism (OCA) is a heterogeneous group of autosomal recessive disorders resulting from mutations of the tyrosinase (TYR) gene and presents with either complete or partial absence of pigment in the skin, hair and eyes due to a defect in an enzyme involved in the production of melanin.
|
25216246 |
2014 |
|
Albinism, Oculocutaneous
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Using exclusion analysis, four OCA causative genes were investigated for their association with WDP phenotype; TYR, OCA2, TYRP1 and SLC45A2.
|
24647637 |
2014 |
|
Albinism, Oculocutaneous
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Exome sequencing identifies potential risk variants for Mendelian disorders at high prevalence in Qatar.
|
24123366 |
2014 |
|
Albinism, Oculocutaneous
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
We have developed a computational procedure to determine the SNPs in the 3'UTR region of mRNA of OCA (TYR, OCA2, TYRP1 and SLC45A2) and OA (GPR143) genes which will be a potential cause for albinism.
|
25060099 |
2014 |
|
Albinism, Oculocutaneous
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Tyrosinase (TYR) catalyzes the rate-limiting, first step in melanin production and its gene (TYR) is mutated in many cases of oculocutaneous albinism (OCA1), an autosomal recessive cause of childhood blindness.
|
24392141 |
2014 |
|
Albinism, Oculocutaneous
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Genetic analyses of Chinese patients with digenic oculocutaneous albinism.
|
23324268 |
2013 |
|
Albinism, Oculocutaneous
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
At least four forms of OCA and one of OA are known, associated with TYR (OCA1), OCA2 (OCA2), TYRP1 (OCA3), SLC45A2 (OCA4) and GPR143 (OA1) loci, respectively.
|
23668539 |
2013 |
|
Albinism, Oculocutaneous
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Mutation spectrum of the TYR and SLC45A2 genes in patients with oculocutaneous albinism.
|
22294196 |
2012 |
|
Albinism, Oculocutaneous
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Molecular analysis of Korean patients with oculocutaneous albinism.
|
22042571 |
2012 |
|
Albinism, Oculocutaneous
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Our findings, along with the results of previous studies, indicate that the p.Cys35Arg, p.Arg278* and p.Gly419Arg alleles of TYR and the p.Asp486Tyr and c.1045-15 T > G alleles of OCA2 are the most common causes of OCA in Pakistani families.
|
22734612 |
2012 |
|
Albinism, Oculocutaneous
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Molecular genetic studies and delineation of the oculocutaneous albinism phenotype in the Pakistani population.
|
22734612 |
2012 |
|
Albinism, Oculocutaneous
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Molecular genetic studies and delineation of the oculocutaneous albinism phenotype in the Pakistani population.
|
22734612 |
2012 |
|
Albinism, Oculocutaneous
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Mutation spectrum of the TYR and SLC45A2 genes in patients with oculocutaneous albinism.
|
22294196 |
2012 |
|
Albinism, Oculocutaneous
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
TYR gene mutations represent a relevant cause of oculocutaneous albinism in Italy, whereas mutations in P present a lower frequency than that found in other populations.
|
20861488 |
2011 |