Albinism, Oculocutaneous
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
The implication of the tyrosinase assay results in light of the phenotype and the possible location of the pigment block in these forms of OCA are discussed.
|
3918447 |
1985 |
Albinism, Oculocutaneous
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
To assess and describe a comprehensive picture of the molecular genetic basis of OCA among Indians with no apparent mutations in TYR.
|
20426782 |
2010 |
Albinism, Oculocutaneous
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Here, we describe the analysis of the HPS1 gene in 24 Japanese OCA patients who lacked mutations in the four genes known to cause OCA (TYR/OCA1, P/OCA2, TYRP1/OCA3, and MATP/OCA4), and the identification of eight different HPS1 mutations in ten of these patients, four of which were novel (W583X, L668P, 532insC, 1691delA).
|
16185271 |
2005 |
Albinism, Oculocutaneous
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Oculocutaneous albinism type 1: link between mutations, tyrosinase conformational stability, and enzymatic activity.
|
27775880 |
2017 |
Albinism, Oculocutaneous
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
This mutation, which results in a proline----leucine substitution at codon 81 of the tyrosinase polypeptide (EC 1.14.18.1), was observed in 20% (6 of 30) of oculocutaneous albinism alleles from independent probands, but it was not observed in any normal individuals.
|
1970634 |
1990 |
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 |
GeneticVariation
|
disease |
BEFREE |
Three PUAs (p.P152H and p.W272X of TYR, p.A486T of SLC24A5) identified in the OCA probands did not co-transmit with known pathological alleles and thus gave rise to unaffected fetuses.
|
26165494 |
2015 |
Albinism, Oculocutaneous
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Oculocutaneous albinism (OCA) is a group of autosomal recessive disorders characterized by reduced melanin that are caused by mutations in the gene encoding tyrosinase (TYR), which is the rate-limiting enzyme in the production of the pigment melanin.
|
30274819 |
2018 |
Albinism, Oculocutaneous
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Mutational mapping of the catalytic activities of human tyrosinase.
|
1429711 |
1992 |
Albinism, Oculocutaneous
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Oculocutaneous albinism (OCA) in man may be caused by mutations within the tyrosinase gene (TYR) resulting in OCA1.
|
15146472 |
2004 |
Albinism, Oculocutaneous
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Contribution of genetic factors for melanoma susceptibility in sporadic US melanoma patients.
|
19320745 |
2009 |
Albinism, Oculocutaneous
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Genetic analysis was subsequently conducted, and the results revealed the p. (Arg778Leu) mutation in 1 allele and the p. (Asn1270Ser) mutation in the other allele of the ATP7B gene, confirming the diagnosis of WD; the p. (D456fs) mutation in 1 allele and the p. (R299H) mutation in the other allele of the TYR gene, confirming the diagnosis of OCA.
|
30558096 |
2018 |
Albinism, Oculocutaneous
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
We identified five different mutations in the TYR gene in 4 patients with severe OCA and in 2 patients with mild OCA, but found no mutations in the 6 patients with mild OCA phenotypes.
|
9163730 |
1997 |
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 |
Albinism, Oculocutaneous
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Here, we describe 11 novel mutations of the tyrosinase gene in Caucasian patients with these 2 forms of type I OCA.
|
1642278 |
1992 |
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 |
Of 75 unrelated patients that were screened, 18 individuals (24%) were identified as having OCA4; they harbored seven novel mutations, including four missense mutations (P58S, D157N, G188V, and V507L) and three frameshift mutations (S90CGGCCA-->GC, V144insAAGT, and V469delG), showing that MATP is the most frequent locus for tyrosinase-positive OCA in Japanese patients.
|
14961451 |
2004 |
Albinism, Oculocutaneous
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
The two mutations (c.1114delG in the TYR gene and c.1426A>G in the OCA2 gene) may be responsible for partial clinical manifestations of OCA.
|
25919014 |
2015 |
Albinism, Oculocutaneous
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Compound heterozygous mutations (c.832C>T and c.929_930insC) in the TYR gene may be responsible for partial clinical manifestations of OCA, while the homozygous missense mutation c.814G>A (p.Glu272Lys) in the SLC45A2 gene may not be associated with OCA.
|
27829221 |
2016 |
Albinism, Oculocutaneous
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Whole exome or direct sequencing showed that two of the children had Hermansky-Pudlak syndrome (HPS) type-1 (HPS-1), one had HPS-3, one had HPS-4, and four had non-syndromic oculocutaneous albinism associated with TYR variants (OCA1).
|
30791930 |
2019 |
Albinism, Oculocutaneous
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Published data on OCA families proposed that ~40% have been associated with genetic variations in the TYR gene.
|
30996339 |
2019 |
Albinism, Oculocutaneous
|
0.900 |
GeneticVariation
|
disease |
LHGDN |
Polymorphisms in the genes for oculocutaneous albinism type 1 and type 4 in the German population.
|
17516931 |
2007 |
Albinism, Oculocutaneous
|
0.900 |
GeneticVariation
|
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 |
Retrospective analysis in oculocutaneous albinism patients for the 2.7 kb deletion in the OCA2 gene revealed a co-segregation of the controversial variant, p.R305W.
|
28451379 |
2017 |