|
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 |
When a mutated tyrosinase gene produces inactive, less active, or temperature-sensitive tyrosinase, its phenotype is tyrosinase-negative (type I-A), yellow-mutant (type I-B), or temperature-sensitive (type I-TS) OCA, respectively.
|
8129415 |
1994 |
|
Albinism, Oculocutaneous
|
0.900 |
Biomarker
|
disease |
BEFREE |
We now describe a cluster of tyrosinase positive OCA (OCA2) cases belonging to the Tonga ethnic group living in the Zambezi valley of northern Zimbabwe.
|
9321758 |
1997 |
|
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 |
Biomarker
|
disease |
CTD_human |
We have isolated and characterized the tyrosinase gene of one affected child (S.S.) with tyrosinase-negative OCA.
|
2511845 |
1989 |
|
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 |
We found five novel mutations in the tyrosinase gene involved in the pathogenesis of oculocutaneous albinism type IA or type IB (OCA-1A/B) in five unrelated patients.
|
11295837 |
2001 |
|
Albinism, Oculocutaneous
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
We determined the tyrosinase activity in melanocytes by the electron microscopic dihydroxyphenylalanine (EM-DOPA) reaction test using skin samples and analyzed tyrosinase gene mutations in nine Japanese patients with OCA.
|
10929771 |
2000 |
|
Albinism, Oculocutaneous
|
0.900 |
AlteredExpression
|
disease |
BEFREE |
We conclude that this mutation of the human TRP-1 gene affects its interaction with tyrosinase, resulting in dysregulation of tyrosinase activity, promotes the synthesis of brown versus black melanin, and is responsible for a third genetic type of OCA in humans, which we classify as "OCA3."
|
8651291 |
1996 |
|
Albinism, Oculocutaneous
|
0.900 |
Biomarker
|
disease |
BEFREE |
We conclude that (1) the presence of white hair at birth is a useful clinical tool suggesting OCA1 in a child or adult with OCA, although OCA2 may also have this presentation; (2) the molecular analysis of the tyrosinase and P genes are necessary for precise diagnosis; and (3) the presence of alleles without identifiable mutations of the tyrosinase gene, particularly in OCA1B, suggests that more complex mutation mechanisms of this gene are common in OCA.
|
13680365 |
2003 |
|
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 |
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 |
Tyrosinase gene mutations in oculocutaneous albinism 1 (OCA1): definition of the phenotype.
|
13680365 |
2003 |
|
Albinism, Oculocutaneous
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Tyrosinase gene analysis in Japanese patients with oculocutaneous albinism.
|
15381243 |
2004 |
|
Albinism, Oculocutaneous
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Tyrosinase gene analysis in Japanese patients with oculocutaneous albinism.
|
15381243 |
2004 |
|
Albinism, Oculocutaneous
|
0.900 |
Biomarker
|
disease |
BEFREE |
Type II (tyrosinase-positive) OCA results from abnormalities of the 'P' polypeptide, which may be a melanosomal tyrosine transporter.
|
7849740 |
1994 |
|
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 |
To present the prenatal genetic diagnoses and counseling for two cases of oculocutaneous albinism (OCA) type I family by detection of mutations in the OCA1 gene by denaturing high performance liquid chromatography (DHPLC) system and a review of the literature.
|
16570240 |
2006 |
|
Albinism, Oculocutaneous
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
To identify the sequence variants of the tyrosinase (TYR) gene in Chinese families with oculocutaneous albinism.
|
20447099 |
2010 |
|
Albinism, Oculocutaneous
|
0.900 |
Biomarker
|
disease |
BEFREE |
To date, two different types of OCA (OCA1 and OCA2) have been mapped to specific chromosomal regions.
|
7963676 |
1994 |
|
Albinism, Oculocutaneous
|
0.900 |
Biomarker
|
disease |
BEFREE |
To assess the prevalence of different forms of OCA and different gene mutations among non-Hispanic Caucasian patients, we performed DNA sequence analysis of the four genes associated with "classical" OCA (TYR, OCA2, TYRP1, SLC45A2), the two principal genes associated with syndromic OCA (HPS1, HPS4), and a candidate OCA gene (SILV), in 121 unrelated, unselected non-Hispanic/Latino Caucasian patients carrying the clinical diagnosis of OCA.
|
18463683 |
2008 |
|
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 |
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 |
Three different frameshift mutations of the tyrosinase gene in type IA oculocutaneous albinism.
|
1905879 |
1991 |