Oculocutaneous albinism type 1A
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Mutations of the human tyrosinase gene associated with tyrosinase related oculocutaneous albinism (OCA1). Mutations in brief no. 204. Online.
|
10671066 |
1998 |
Oculocutaneous albinism type 1A
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Molecular analysis of Korean patients with oculocutaneous albinism.
|
22042571 |
2012 |
Oculocutaneous albinism type 1A
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Mutations of the tyrosinase gene in patients with oculocutaneous albinism from various ethnic groups in Israel.
|
8128955 |
1994 |
Oculocutaneous albinism type 1A
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Novel mutations of the tyrosinase (TYR) gene in type I oculocutaneous albinism (OCA1).
|
9259202 |
1997 |
Oculocutaneous albinism type 1A
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
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 |
Oculocutaneous albinism type 1A
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Detection of 53 novel DNA variations within the tyrosinase gene and accumulation of mutations in 17 patients with albinism.
|
15146472 |
2004 |
Oculocutaneous albinism type 1A
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The phenotype of Type I OCA is broad, ranging from a total lack to only a moderate reduction of melanin, and the phenotypic variation is associated with different mutant alleles at the tyrosinase locus.
|
8477259 |
1993 |
Oculocutaneous albinism type 1A
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Molecular and clinical characterization of albinism in a large cohort of Italian patients.
|
20861488 |
2011 |
Oculocutaneous albinism type 1A
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Tyrosinase gene mutations in type I (tyrosinase-deficient) oculocutaneous albinism define two clusters of missense substitutions.
|
1642278 |
1992 |
Oculocutaneous albinism type 1A
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Homozygous tyrosinase gene mutation in an American black with tyrosinase-negative (type IA) oculocutaneous albinism.
|
1899321 |
1991 |
Oculocutaneous albinism type 1A
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
Tyrosinase is a rate-limiting enzyme in the melanin biosynthetic pathway and a complete defect of the enzyme activity caused by homozygous mutations of the tyrosinase gene is well known to result in tyrosinase-negative oculocutaneous albinism (OCA1A) patients who never develop any melanin pigment in the skin, hair and eyes throughout life.
|
11858948 |
2002 |
Oculocutaneous albinism type 1A
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Novel mutations of the tyrosinase (TYR) gene in type I oculocutaneous albinism (OCA1).
|
9259202 |
1997 |
Oculocutaneous albinism type 1A
|
0.800 |
Biomarker
|
disease |
BEFREE |
Mutations in the gene for the pigment-producing enzyme tyrosinase are responsible for type IA (tyrosinase-negative) oculocutaneous albinism (OCA).
|
1905879 |
1991 |
Oculocutaneous albinism type 1A
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
A frequent tyrosinase gene mutation in classic, tyrosinase-negative (type IA) oculocutaneous albinism.
|
1970634 |
1990 |
Oculocutaneous albinism type 1A
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
R278TER and P431L mutations of the tyrosinase gene exist in Japanese patients with tyrosinase-negative oculocutaneous albinism.
|
8953413 |
1996 |
Oculocutaneous albinism type 1A
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Rapid genetic analysis of oculocutaneous albinism (OCA1) using denaturing high performance liquid chromatography (DHPLC) system.
|
16570240 |
2006 |
Oculocutaneous albinism type 1A
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
A population-based study of autosomal-recessive disease-causing mutations in a founder population.
|
22981120 |
2012 |
Oculocutaneous albinism type 1A
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Tyrosinase gene mutations in oculocutaneous albinism 1 (OCA1): definition of the phenotype.
|
13680365 |
2003 |
Oculocutaneous albinism type 1A
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Molecular analysis of type I-A (tyrosinase negative) oculocutaneous albinism.
|
1487241 |
1992 |
Oculocutaneous albinism type 1A
|
0.800 |
Biomarker
|
disease |
BEFREE |
We have isolated and characterized the tyrosinase gene of one affected child (S.S.) with tyrosinase-negative OCA.
|
2511845 |
1989 |
Oculocutaneous albinism type 1A
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Sequence-based diagnosis of tyrosinase-related oculocutaneous albinism: successful sequence analysis of the tyrosinase gene from blood spots dried on filter paper.
|
9568405 |
1998 |
Oculocutaneous albinism type 1A
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The third, termed ts, produces temperature-sensitive tyrosinase with very low activity at 35 degrees C, but with no activity at temperatures greater than 35 degrees C. Various combinations of these alleles result in tyrosinase-negative (t-/t-), yellow mutant (y/y, y/t-, y/ts), or temperature-sensitive (ts/t-, ts/ts) OCA.
|
8433007 |
1993 |
Oculocutaneous albinism type 1A
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Genetic background-dependent role of Egr1 for eyelid development.
|
28778995 |
2017 |
Oculocutaneous albinism type 1A
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations T373K, N371Y, M370T and P313R were suggested as high deleterious effect on TYR protein and it is responsible for OCA1A which were also endorsed with previous in vivo experimental studies.
|
23085273 |
2013 |
Oculocutaneous albinism type 1A
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A frequent tyrosinase gene mutation associated with type I-A (tyrosinase-negative) oculocutaneous albinism in Puerto Rico.
|
8434585 |
1993 |