|
Albinism, Oculocutaneous
|
0.900 |
Biomarker
|
disease |
BEFREE |
Those genes include agouti signalling protein (ASIP), tyrosinase (TYR), tyrosinase-related protein 1 (TYRP1), oculocutaneous albinism II (OCA2), various solute carrier genes and transporters.
|
20601102 |
2010 |
|
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 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
Albinism, Oculocutaneous
|
0.900 |
Biomarker
|
disease |
BEFREE |
Sequence analysis of the tyrosinase (TYR) coding region from one albino rhesus monkey (Macaca mulatta) family revealed that the two monkeys with phenotype similar to human TYR-negative oculocutaneous albinism (OCA) were homozygous for a missense mutation (S184TER) in exon 1 at codon 184.
|
10751629 |
2000 |
|
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 |
CausalMutation
|
disease |
CLINVAR |
Tyrosinase gene mutations in type I (tyrosinase-deficient) oculocutaneous albinism define two clusters of missense substitutions.
|
1642278 |
1992 |
|
Albinism, Oculocutaneous
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
A frequent tyrosinase gene mutation associated with type I-A (tyrosinase-negative) oculocutaneous albinism in Puerto Rico.
|
8434585 |
1993 |
|
Albinism, Oculocutaneous
|
0.900 |
Biomarker
|
disease |
BEFREE |
The Hermansky-Pudlak Syndrome, a "tyrosinase positive' form of oculocutaneous albinism, is a triad comprising albinism, a hemorrhagic diathesis and ceroid-lipofuscin storage.
|
7298260 |
1981 |
|
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 |
CausalMutation
|
disease |
CLINVAR |
A frequent tyrosinase gene mutation in classic, tyrosinase-negative (type IA) oculocutaneous albinism.
|
1970634 |
1990 |
|
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 |
CausalMutation
|
disease |
CLINVAR |
Molecular diagnosis of oculocutaneous albinism: new mutations in the OCA1-4 genes and practical aspects.
|
18821858 |
2008 |
|
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 |
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 |