Property Summary

NCBI Gene PubMed Count 180
PubMed Score 1897.32
PubTator Score 2933.65

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (7)

Expression

  Differential Expression (1)

Disease log2 FC p
psoriasis 1.300 1.1e-03

 CSPA Cell Line (2)

Gene RIF (123)

PMID Text
26663053 Data show that mutant microphthalmia-associated transcription factor (MITF) with loss of localization signals (NLS) has failed to transactivate the transcriptional activities of target gene tyrosinase (TYR), which can cause Waardenburg syndrome.
26580798 LEF-1 and MITF regulate tyrosinase gene transcription in vitro via binding to its promoter.
26167114 The tyrosinase gene was examined in 23 unrelated patients with autosomal recessive ocular albinism or nonsyndromic oculocutaneous albinism. TYR gene mutations were identi fi ed in 14 (app. 60%) albinism patients.
25919014 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 Oculocutaneous albinism.
25724930 Overall, our data strongly suggest that IRF4, MC1R and TYR genes likely have pleiotropic effects, a combination of pigmentation and oncogenic functions, resulting in an increased risk of actinic keratosis.
25703744 Four missense substitutions (p.Arg239Trp, p.Ser192Tyr, p.Ser44Arg and p.Arg77Gln) were identified in tyrosinase in the families with oculocutaneous albinism linkage, and another missense substitution (p.Gln272Lys) was identified in the family with OCA4 linkage
25687215 Molecular analysis identified two compound heterozygous TYR mutations known to cause OCAIA and cosegregate with oculocutaneous albinism. In addition, we identified a novel heterozygous PAX6 mutation confirming the atypical aniridia phenotype.
25577957 Identification of four novel TYR mutations in a Chinese Han population with Oculocutaneous albinism 1.
25455140 11/11 individuals with homozygous or compound heterozygous mutations in TYR, have no discernible pigmentation in hair, skin and eyes
25216246 Two new pathogenic p.C89S and p.H180R mutations in TYR were detected in two OCA1 patients.
25130058 human tyrosinase, which can oxidize l-tyrosine but not d-tyrosine, was found to oxidize both R(-)- and S(+)-rhododendrol.
24936769 Data indicate that tyrosinase is used as a reporter gene owing to its strong optical absorption and enzymatic amplification mechanism and melamin production.
24934919 We report a novel missense substitution in the TYR gene(p.Ile198Thr) in a Pakistani family with oculocutaneous albinism.
24862846 miR-330-5p is a potent negative regulator of TYR, but not of MITF, in pigmented melanoma cells and normal melanocytes
24739399 Molecular analysis of common polymorphisms within the human Tyrosinase locus and genetic association with pigmentation traits.
24721949 Among the 24 (58.5%) patients with OCA1, 21 different TYR mutations were identified, including three previously unidentified alleles
24612747 A meaningful met form of TYR was built by homology modeling.
24118800 High-resolution array-CGH in patients with oculocutaneous albinism identifies new deletions of the TYR, OCA2, and SLC45A2 genes and a complex rearrangement of the OCA2 gene.
24107097 cAMP-PKA-CREB-activated microphthalmia-associated transcription factor and tyrosinase expression is inhibited by the novel novel adamantyl benzylbenzamide derivative, AP736
23884313 Treatment with an inhibitor of miR-203 downregulated the expression level of TYR in melanoma cells.
23242301 A G47D & 1379delTT mutation was seen in 4 members of an oculocutaneous albinism family. An unrelated patient was a compound heterozygote for the G47D & D42N mutations.
23165166 We examined the association between 12 variants of four pigmentation-related genes (TYR, OCA2, SLC45A2, MC1R) and variations in the melanin index of 456 Japanese females using a multiple regression analysis.
23085273 Analysis showed that certain mutations can affect the dynamic properties of tyrosinase and can lead to disease conditions, providing a significant insight into the molecular mechanism of oculocutaneous albinism type 1A.
22898827 The results suggested that the miRNAs may be involved in MITF regulation of TYR, TYRP1 and TYRP2, which provides a new clue for understanding the role of miRNAs in melanocyte dysfunctional disease.
22895365 DGK regulates melanogenesis via modulation of the posttranslational processing of tyrosinase, which may be related with the protein degradation machinery.
22531911 Melanoma cells present high levels of HLA-A2-tyrosinase in association with instability and aberrant intracellular processing of tyrosinase.
22464347 Report association between TYR genetic variants and melanoma susceptibilty in southern European patients.
22447455 By using a population-based material of high-risk melanoma cases, we demonstrate a significant effect of both MC1R red hair color (RHC) variants and an ASIP haplotype, but could not replicate an association with postulated risk SNPs of TYR and TYRP1.
22402439 The HLA-A-TYR pathways is involved in antigen presentation and risk in generalized vitiligo.
22294196 TYR mutations identified included c.1037-7T>A/c.1037-10delTT, p.D383N, p.R77Q and p.R299H.
22259223 these findings emphasize the role of OTX2 in regulating the human TYR gene, with implications for inter-individual differences in melanin synthesis, retinal development, and function as well as susceptibility to retinal degeneration associated with aging.
22097729 W400L is the most frequent mutation in oculocutaneous albinism type 1, which accounted for about 30.0% of Chinese mainland patients.
22088535 study provided new information about a novel mutation, p.I151S, in the TYR gene in a Chinese family with oculocutaneous albinism type
22042571 Three mutational alleles, R278X and R52I of the TYR gene and C229Y of the SLC45A2 gene, are added to the mutational spectra of Korean patients with oculocutaneous albinism (OCA)
21906913 association of TYR p.R402Q with skin cancer risk in the French population.
21541274 TYR gene mutations have a more severe effect on pigmentation than mutations in OCA2 and the GPR143 gene. Nevertheless, mutations in these genes affect the development of visual function either directly or by interaction with other genes like MC1R.
21197618 Data show that Mc1R, HERC2, IRF4, TYR and EXOC2 are ranked highest in hair color prediction analysis.
20861851 in India, the frequency of OCA1 subtypes is about 61%
20861488 TYR gene mutations represent a relevant cause of oculocutaneous albinism in Italy, whereas mutations in P present a lower frequency. Clinical analysis revealed that the severity of the ocular manifestations depends on the degree of retinal pigmentation.
20588308 Observational study of gene-disease association. (HuGE Navigator)
20585627 Observational study of gene-disease association. (HuGE Navigator)
20447099 We have identified five different TYR mutations, including one novel mutation, which caused oculocutaneous albinism type 1 in Chinese.
20426782 results suggest that an OCA2 gene defect is the second most prevalent type of oculocutaneous albinism in India after TYR & the presence of homozygous mutations in affected pedigrees underscores the lack of intermixing between the affected ethnicities
20410501 observed associations between generalized vitiligo and markers implicating multiple genes, one (TYR) that may mediate target-cell specificity and indicate a mutually exclusive relationship between susceptibility to vitiligo and susceptibility to melanoma
20410501 Observational study of gene-disease association. (HuGE Navigator)
20083666 T cell receptor transgenic mice are created that recognize an epitope of the melanocyte protein, tyrosinase. These animals develop vitiligo with strikingly similar characteristics to the human disease.
20006830 DNA analysis revealed that the patient is a compound heterozygote for mutations in the tyrosinase gene, her genotype confers no apparent cutaneous disease and only mild ocular features.
19865097 Observational study of gene-disease association. (HuGE Navigator)
19710684 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
19692168 Observational study of gene-disease association. (HuGE Navigator)
19626598 In 32 israeli families tyrosinase (TYR) mutations were diagnosed.
19625176 Observational study of gene-disease association. (HuGE Navigator)
19578364 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
19384953 TYR haplotype carrying only the Arg402Gln variant allele was significantly associated with squamous cell carcinoma.
19384953 Observational study of gene-disease association. (HuGE Navigator)
19360691 Observational study of gene-disease association. (HuGE Navigator)
19342661 glycosylation alters the selectivity of tyrosinase processing by the proteasome, enhancing the production or survival of Tyr(369)(D)
19340012 Observational study and genome-wide association study of gene-disease association and gene-environment interaction. (HuGE Navigator)
19336006 This study examined an alternative molecular approach using TYR-small interfering RNA (siRNA) to control melanogenesis in the human melanocytes.
19320745 Observational study of gene-disease association. (HuGE Navigator)
19208379 The R402Q tyrosinase variant does not cause autosomal recessive ocular albinism.
19170196 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
19060277 TYR is the major OCA (oculocutaneous albinism) gene in Denmark, but several patients do not have mutations in the investigated genes.
19060277 Observational study of gene-disease association. (HuGE Navigator)
18845991 Elevated serum tyrosinase is associated with malignant melanoma.
18821858 Results describe a series of new mutations in the OCA genes, and their role in the molecular diagnosis of oculocutaneous albinism
18791269 tyrosinase overexpression promotes an ataxia telangiectasia mutated-dependent p53 phosphorylation by quercetin treatment and sensitizes melanoma cells to dacarbazine.
18701257 Four novel mutations of tyrosinase (TYR) gene have been reported in Chinese oculocutaneous albinism patients.
18676680 Observational study of gene-disease association. (HuGE Navigator)
18636124 Observational study of gene-disease association. (HuGE Navigator)
18563784 Observational study of gene-disease association. (HuGE Navigator)
18488027 ASIP and TYR pigmentation variants associate with cutaneous melanoma and basal cell carcinoma.
18488027 Observational study of gene-disease association. (HuGE Navigator)
18478240 activation of p38 MAPK plays an important role in LPS-induced melanogenesis by up-regulating MITF and tyrosinase expression
18463683 Observational study of gene-disease association. (HuGE Navigator)
18457359 plays a critical role in regulation of melanogenesis.
18425346 Results describe the molecular detection of circulating melanoma cells by reverse transcription-polymerase chain reaction (RT-PCR) in human blood samples and in a xenograft mouse model.
18390556 alpha-synuclein reacts with tyrosinase and may have a role in Parkinson disease
18337837 Tyrosinase-, gp100-, or TRP-2-specific CD8(+) T cells could not be identified in the peripheral blood of individuals with vitiligo.
18326704 Most patients with AROA (autosomal recessive ocular albinism) represent phenotypically mild variants of oculocutaneous albinism , well over half of which is OCA1.
18296661 The absence of evidence for projection abnormalities in human OCA1a carriers contrasts with the previously reported evidence for abnormalities in cat-carriers of tyrosinase-related albinism.
18181974 Measurement of Melan-A, gp100, MAGE-3, MIA and tyrosinase represents a prognostic factor and a method for early detection of metastasis and treatment response of melanoma patients.
17999355 Observational study of gene-disease association. (HuGE Navigator)
17850513 analysis of the mammalian tyrosinase active site with loss of function mutations
17766092 Anemonin, an active compound of C. crassifolia, inhibits melanin synthesis by inhibiting the transcription of the genes encoding TYR, TRP1, and TRP2.
17718595 data show that chloride ion inhibited tyrosinase in a competitive manner
17516931 tyrosinase and membrane associated transporter protein polymorphisms may have roles in oculocutaneous albinism type 1 and type 4 in the German population
17496783 tyrosinase has a role in progression of melanoma
17496782 tyrosinase has a role in progression of metastatic melanoma
17265558 The expression levels of tyrosinase mRNA and protein were also reduced by paeonol.
17200659 No genetic susceptibility or increased risk attributed to the tyrosinase gene family in Vogt-Koyanagi-Harada disease in Japanese.
16907708 Missense mutations in the tyrosinase gene is asociated with oculocutaneous albinism type 1
16737954 the transmembrane anchor of a protein may crucially, albeit indirectly, control the folding pathway of the ectodomain, as shown with tyrosinase
16565383 TYR is not a modifier of the CYP1B1-associated PCG (primary congenital glaucoma) phenotype in the Saudi Arabian population.
16517127 a tyrosinase mutation may have a role in type 1A oculocutaneous albinism (case report)
16477373 Human Placental protein/peptide fraction mediated increase in tyrosinase expression occurred through transcriptional upregulation to stimulate melanogenesis in primary melanocyte.
16447258 demonstrated that these cells possess tyrosinase as well as L-tyrosine hydroxylase (TH) activity and synthesize melanosomes
16417222 Observational study of genotype prevalence. (HuGE Navigator)
16272362 the tyrosinase autoantigen was immunorecognized with the same molecular pattern by sera from vitiligo and melanoma patients
16056219 OCA1 in the Tili population is due to the occurrence of a founder mutation in the TYR as indicated by haplotype analysis. Higher prevalence of the mutation in the population group is due to marriage within the same community.
15958486 glycan-specific oxidoreductase ERp57 was cross-linked to type I membrane glycoprotein tyrosinase when calnexin and calreticulin were associated
15885985 Sequensce databases contribute to demonstrating novel mutations in tyrosinase of albinism in Indians and Japanese.
15854130 fibroblasts in vitro, particularly when deliberately stressed, have the ability to increase dopa oxidase(tyrosinase) activity in melanocytes of the hair, the skin and the eye
15838343 Endothelin-1 increased tyrosinase levels in melanocytes but suppressed enzyme activity.
15677452 Data show that oculocutaneous albinism soluble tyrosinase is an endoplasmic reticulum-associated degradation substrate that, unlike other albino tyrosinases, associates with calreticulin and BiP/GRP78, but not calnexin.
15635296 Our study reports the distribution of two novel frameshift and a previously reported nonsense mutations in four OCA1 families from the Indian population.
15381243 IVS2-10deltt-7t-a was present in 3 out of 18 alleles in three families (16%), P310insC was present in three alleles in three families (16%) and R278X was found in three alleles (16%), and G97V (290 G-T) was found in 1 out of 18 alleles
15210908 Observational study of gene-disease association. (HuGE Navigator)
15146472 DNA variations - mutations and polymorphisms - in about 150 patients with Oculocutaneous albinism
14634018 results shows that organellar pH, proteasome activity, and down-regulation of tyrosinase-related protein 1(TYRP1) expression all contribute to the lack of pigmentation in tyrosinase-positive amelanotic melanoma cells
14623273 These results suggest that phosphorylation of tyrosinase by PKC-beta induces a complex formation between tyrosinase and TRP-1.
12925214 Antigen-specific T lymphocyte reactivity to MelanA/MART-1 and tyrosinase peptides was not observed ex vivo in our patients, and only one patient demonstrated responses to MelanA/MART-1 and tyrosinase peptides following in vitro re-stimulation.
12817591 A candidate gene for pigmentation.
12727022 no mutations in oculocutaneou albinism
12710945 This melanoma-associated marker was detected in melanoma cell lines.
12579416 We show that TYR has measurable effects on skin pigmentation differences between the west African and west European parental populations
12565907 Data reveal DCoH/HNF-1 alpha expression and transcriptional activity in human epidermal melanocytes in vitro and in situ and identified tyrosinase, the key enzyme for pigmentation, as a new transcriptional target.
12519123 Data suggest that maintenance of a chronically hyperpigmented phenotype in chronically photoexposed human skin is the result of a stable increase in the number of tyrosinase positive melanocytes at these sites.
12028586 role of P protein and tyrosinase in oculocutaneous albinism
11858948 We report a novel missense substitution, R239W(CGG --> TGG) of the tyrosinase gene in a patient with tyrosinase-negative OCA.
11812790 induction of retention in the early secretory pathway by abnormal acidification of melanoma cells
11720436 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
11532853 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)

AA Sequence

MLLAVLYCLLWSFQTSAGHFPRACVSSKNLMEKECCPPWSGDRSPCGQLSGRGSCQNILLSNAPLGPQFP      1 - 70
FTGVDDRESWPSVFYNRTCQCSGNFMGFNCGNCKFGFWGPNCTERRLLVRRNIFDLSAPEKDKFFAYLTL     71 - 140
AKHTISSDYVIPIGTYGQMKNGSTPMFNDINIYDLFVWMHYYVSMDALLGGSEIWRDIDFAHEAPAFLPW    141 - 210
HRLFLLRWEQEIQKLTGDENFTIPYWDWRDAEKCDICTDEYMGGQHPTNPNLLSPASFFSSWQIVCSRLE    211 - 280
EYNSHQSLCNGTPEGPLRRNPGNHDKSRTPRLPSSADVEFCLSLTQYESGSMDKAANFSFRNTLEGFASP    281 - 350
LTGIADASQSSMHNALHIYMNGTMSQVQGSANDPIFLLHHAFVDSIFEQWLRRHRPLQEVYPEANAPIGH    351 - 420
NRESYMVPFIPLYRNGDFFISSKDLGYDYSYLQDSDPDSFQDYIKSYLEQASRIWSWLLGAAMVGAVLTA    421 - 490
LLAGLVSLLCRHKRKQLPEEKQPLLMEKEDYHSLYQSHL                                   491 - 529
//

Text Mined References (182)

PMID Year Title
26663053 2015 [Analysis of nuclear localization and signal function of MITF protein predisposing to Warrdenburg syndrome].
26580798 2015 LEF-1 Regulates Tyrosinase Gene Transcription In Vitro.
26167114 2015 Sequence analysis of tyrosinase gene in ocular and oculocutaneous albinism patients: introducing three novel mutations.
25919014 2015 Mutational Analysis of the TYR and OCA2 Genes in Four Chinese Families with Oculocutaneous Albinism.
25724930 2015 IRF4, MC1R and TYR genes are risk factors for actinic keratosis independent of skin color.
25703744 2015 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.
25687215 2015 Combined Occurrence of Autosomal Dominant Aniridia and Autosomal Recessive Albinism in Several Members of a Family.
25577957 2014 Tyrosinase gene mutations in the Chinese Han population with OCA1.
25455140 2014 Oculocutaneous albinism (OCA) in Colombia: first molecular screening of the TYR and OCA2 genes in South America.
25216246 2014 Two novel tyrosinase (TYR) gene mutations with pathogenic impact on oculocutaneous albinism type 1 (OCA1).
25130058 2014 Human tyrosinase is able to oxidize both enantiomers of rhododendrol.
24980573 2014 Identification of a melanoma susceptibility locus and somatic mutation in TET2.
24936769 2014 Multi-wavelength photoacoustic imaging of inducible tyrosinase reporter gene expression in xenograft tumors.
24934919 2014 Identification of a novel mutation (p.Ile198Thr) in gene TYR in a Pakistani family with nonsyndromic oculocutaneous albinism.
24862846 2014 miR-330-5p targets tyrosinase and induces depigmentation.
24739399 2014 Molecular analysis of common polymorphisms within the human Tyrosinase locus and genetic association with pigmentation traits.
24721949 A comprehensive study of oculocutaneous albinism type 1 reveals three previously unidentified alleles on the TYR gene.
24612747 2014 Modeling the met form of human tyrosinase: a refined and hydrated pocket for antagonist design.
24118800 2014 High-resolution array-CGH in patients with oculocutaneous albinism identifies new deletions of the TYR, OCA2, and SLC45A2 genes and a complex rearrangement of the OCA2 gene.
24107097 2013 A novel adamantyl benzylbenzamide derivative, AP736, suppresses melanogenesis through the inhibition of cAMP-PKA-CREB-activated microphthalmia-associated transcription factor and tyrosinase expression.
24040225 2013 Global patterns of diversity and selection in human tyrosinase gene.
23884313 2014 MicroRNA-203 regulates melanosome transport and tyrosinase expression in melanoma cells by targeting kinesin superfamily protein 5b.
23548203 2013 Genome-wide association studies identify several new loci associated with pigmentation traits and skin cancer risk in European Americans.
23504663 2013 DNA variations in oculocutaneous albinism: an updated mutation list and current outstanding issues in molecular diagnostics.
23326517 2013 Insights into the genetic architecture of early stage age-related macular degeneration: a genome-wide association study meta-analysis.
23242301 2012 [An overview of oculocutaneous albinism: TYR gene mutations in five Colombian individuals].
23165166 2013 Association of melanogenesis genes with skin color variation among Japanese females.
23085273 2013 Mutational analysis of TYR gene and its structural consequences in OCA1A.
22981120 2012 A population-based study of autosomal-recessive disease-causing mutations in a founder population.
22898827 2012 The changes of microRNA expression profiles and tyrosinase related proteins in MITF knocked down melanocytes.
22895365 2012 Diacylglycerol kinase regulates tyrosinase expression and function in human melanocytes.
22561518 2012 Genome-wide association analyses identify 13 new susceptibility loci for generalized vitiligo.
22531911 2012 Melanoma cells present high levels of HLA-A2-tyrosinase in association with instability and aberrant intracellular processing of tyrosinase.
22464347 2012 MC1R, SLC45A2 and TYR genetic variants involved in melanoma susceptibility in southern European populations: results from a meta-analysis.
22447455 2012 MC1R, ASIP, TYR, and TYRP1 gene variants in a population-based series of multiple primary melanomas.
22402439 2012 Next-generation DNA re-sequencing identifies common variants of TYR and HLA-A that modulate the risk of generalized vitiligo via antigen presentation.
22294196 2012 Mutation spectrum of the TYR and SLC45A2 genes in patients with oculocutaneous albinism.
22259223 2012 Regulation of the human tyrosinase gene in retinal pigment epithelium cells: the significance of transcription factor orthodenticle homeobox 2 and its polymorphic binding site.
22097729 2011 [Study of tyrosinase gene mutation in oculocutaneous albinism type 1 patients].
22088535 2011 A novel missense mutation of the TYR gene in a pedigree with oculocutaneous albinism type 1 from China.
22042571 2012 Molecular analysis of Korean patients with oculocutaneous albinism.
21983787 2011 Genome-wide association study identifies three new melanoma susceptibility loci.
21906913 2011 Assessment of tyrosinase variants and skin cancer risk in a large cohort of French subjects.
21541274 2011 Screening of TYR, OCA2, GPR143, and MC1R in patients with congenital nystagmus, macular hypoplasia, and fundus hypopigmentation indicating albinism.
21197618 2011 Model-based prediction of human hair color using DNA variants.
20861851 2011 Molecular and functional studies of tyrosinase variants among Indian oculocutaneous albinism type 1 patients.
20861488 2011 Molecular and clinical characterization of albinism in a large cohort of Italian patients.
20588308 2010 Dengue hemorrhagic fever is associated with polymorphisms in JAK1.
20585627 2010 Web-based, participant-driven studies yield novel genetic associations for common traits.
20447099 2010 Tyrosinase gene (TYR) mutations in Chinese patients with oculocutaneous albinism type 1.
20426782 2010 Comprehensive analysis of the molecular basis of oculocutaneous albinism in Indian patients lacking a mutation in the tyrosinase gene.
20410501 2010 Variant of TYR and autoimmunity susceptibility loci in generalized vitiligo.
20083666 2010 Mechanisms of spatial and temporal development of autoimmune vitiligo in tyrosinase-specific TCR transgenic mice.
20006830 2009 Ocular albinism with absent foveal pits but without nystagmus, photophobia, or severely reduced vision.
19865097 2010 A comprehensive analysis reveals mutational spectra and common alleles in Chinese patients with oculocutaneous albinism.
19710684 2010 Multiple pigmentation gene polymorphisms account for a substantial proportion of risk of cutaneous malignant melanoma.
19692168 2010 Genetic susceptibility to distinct bladder cancer subphenotypes.
19626598 2009 Prenatal molecular diagnosis of oculocutaneous albinism (OCA) in a large cohort of Israeli families.
19625176 2009 PTEN identified as important risk factor of chronic obstructive pulmonary disease.
19578364 2009 Genome-wide association study identifies three loci associated with melanoma risk.
19384953 2009 Genetic variants in pigmentation genes, pigmentary phenotypes, and risk of skin cancer in Caucasians.
19360691 2008 Examination of association to autism of common genetic variationin genes related to dopamine.
19342661 2009 N-glycosylation enhances presentation of a MHC class I-restricted epitope from tyrosinase.
19340012 2009 Genome-wide association study of tanning phenotype in a population of European ancestry.
19336006 2009 Inhibition of melanogenesis by tyrosinase siRNA in human melanocytes.
19320745 2009 Contribution of genetic factors for melanoma susceptibility in sporadic US melanoma patients.
19208379 2009 The R402Q tyrosinase variant does not cause autosomal recessive ocular albinism.
19170196 2009 Polymorphisms in innate immunity genes and lung cancer risk in Xuanwei, China.
19060277 2009 Birth prevalence and mutation spectrum in danish patients with autosomal recessive albinism.
18845991 2008 Prognostic significance and diagnostic value of protein S-100 and tyrosinase in patients with malignant melanoma.
18821858 2008 Molecular diagnosis of oculocutaneous albinism: new mutations in the OCA1-4 genes and practical aspects.
18791269 2008 Tyrosinase overexpression promotes ATM-dependent p53 phosphorylation by quercetin and sensitizes melanoma cells to dacarbazine.
18701257 2009 Four novel mutations of TYR gene in Chinese OCA1 patients.
18676680 2008 Pathway-based evaluation of 380 candidate genes and lung cancer susceptibility suggests the importance of the cell cycle pathway.
18636124 2008 Polymorphisms in the estrogen receptor 1 and vitamin C and matrix metalloproteinase gene families are associated with susceptibility to lymphoma.
18563784 2008 SLC45A2: a novel malignant melanoma-associated gene.
18488027 2008 ASIP and TYR pigmentation variants associate with cutaneous melanoma and basal cell carcinoma.
18478240 2008 LPS induces melanogenesis through p38 MAPK activation in human melanocytes.
18463683 2008 Comprehensive analysis of oculocutaneous albinism among non-Hispanic caucasians shows that OCA1 is the most prevalent OCA type.
18457359 2008 Inhibition of MITF and tyrosinase by paeonol-stimulated JNK/SAPK to reduction of phosphorylated CREB.
18425346 2008 Molecular detection of circulating tyrosinase mRNA: optimization in a preclinical xenograft mouse melanoma model and further evaluation in samples from advanced melanoma patients.
18390556 2008 The reaction of alpha-synuclein with tyrosinase: possible implications for Parkinson disease.
18337837 2008 Lack of functionally active Melan-A(26-35)-specific T cells in the blood of HLA-A2+ vitiligo patients.
18326704 2008 A comprehensive genetic study of autosomal recessive ocular albinism in Caucasian patients.
18296661 2008 Multifocal visual evoked potentials reveal normal optic nerve projections in human carriers of oculocutaneous albinism type 1a.
18181974 2008 Multimarker real-time reverse transcription-PCR for quantitative detection of melanoma-associated antigens: a novel possible staging method.
17999355 2007 A genomewide association study of skin pigmentation in a South Asian population.
17952075 2007 Genetic determinants of hair, eye and skin pigmentation in Europeans.
17850513 2007 A three-dimensional model of mammalian tyrosinase active site accounting for loss of function mutations.
17766092 2008 Anemonin is a natural bioactive compound that can regulate tyrosinase-related proteins and mRNA in human melanocytes.
17718595 2007 Effect of Cl- on tyrosinase: complex inhibition kinetics and biochemical implication.
17516931 2007 Polymorphisms in the genes for oculocutaneous albinism type 1 and type 4 in the German population.
17496783 2007 Prognostic role of circulating melanoma cells detected by reverse transcriptase-polymerase chain reaction for tyrosinase mRNA in patients with melanoma.
17496782 2007 Prognostic relevance of baseline and sequential peripheral blood tyrosinase expression in 200 consecutive advanced metastatic melanoma patients.
17265558 2007 Down-regulation of melanin synthesis and transfer by paeonol and its mechanisms.
17200659 2006 Tyrosinase gene family and Vogt-Koyanagi-Harada disease in Japanese patients.
17081065 2006 Proteomic and bioinformatic characterization of the biogenesis and function of melanosomes.
16907708 2006 OCA1 in different ethnic groups of india is primarily due to founder mutations in the tyrosinase gene.
16737954 2006 Productive folding of tyrosinase ectodomain is controlled by the transmembrane anchor.
16565383 2006 Of mice and men: tyrosinase modification of congenital glaucoma in mice but not in humans.
16517127 2006 A novel mutation (delAACT) in the tyrosinase gene in a Cameroonian black with type 1A oculocutaneous albinism.
16477373 2006 Human placental protein/peptides stimulate melanin synthesis by enhancing tyrosinase gene expression.
16447258 2006 Human glioblastoma ADF cells express tyrosinase, L-tyrosine hydroxylase and melanosomes and are sensitive to L-tyrosine and phenylthiourea.
16417222 2006 Genetic testing for oculocutaneous albinism type 1 and 2 and Hermansky-Pudlak syndrome type 1 and 3 mutations in Puerto Rico.
16272362 2005 Proteomic scan for tyrosinase peptide antigenic pattern in vitiligo and melanoma: role of sequence similarity and HLA-DR1 affinity.
16162817 2005 Functions of adaptor protein (AP)-3 and AP-1 in tyrosinase sorting from endosomes to melanosomes.
16056219 2005 Higher prevalence of OCA1 in an ethnic group of eastern India is due to a founder mutation in the tyrosinase gene.
15958486 2005 The cotranslational maturation of the type I membrane glycoprotein tyrosinase: the heat shock protein 70 system hands off to the lectin-based chaperone system.
15885985 2005 Establishment of tyrosinase sequence database in normally pigmented Indians and Japanese for rapid determination of novel mutations.
15854130 2005 Dopa oxidase activity in the hair, skin and ocular melanocytes is increased in the presence of stressed fibroblasts.
15838343 2004 Tyrosinase induction in normal human cultured melanocytes by endothelin-1.
15677452 2005 Soluble tyrosinase is an endoplasmic reticulum (ER)-associated degradation substrate retained in the ER by calreticulin and BiP/GRP78 and not calnexin.
15635296 2004 Genetic analysis of oculocutaneous albinism type 1 (OCA1) in Indian families: two novel frameshift mutations in the TYR Gene.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15381243 2004 Tyrosinase gene analysis in Japanese patients with oculocutaneous albinism.
15210908 2004 Susceptibility and outcome in MS: associations with polymorphisms in pigmentation-related genes.
15146472 2004 Detection of 53 novel DNA variations within the tyrosinase gene and accumulation of mutations in 17 patients with albinism.
14634018 2004 Regulation of tyrosinase processing and trafficking by organellar pH and by proteasome activity.
14623273 2003 Protein kinase C-beta-mediated complex formation between tyrosinase and TRP-1.
12925214 2003 Cytotoxic T lymphocyte reactivity to gp100, MelanA/MART-1, and tyrosinase, in HLA-A2-positive vitiligo patients.
12817591 2003 Control of confounding of genetic associations in stratified populations.
12727022 2003 A novel P gene missense mutation in a Japanese patient with oculocutaneous albinism type II (OCA2).
12710945 2003 Detection of multiple melanoma-associated markers in melanoma cell lines by RT in situ PCR.
12643545 Proteomic analysis of early melanosomes: identification of novel melanosomal proteins.
12579416 2003 Skin pigmentation, biogeographical ancestry and admixture mapping.
12565907 2003 In situ and in vitro evidence for DCoH/HNF-1 alpha transcription of tyrosinase in human skin melanocytes.
12519123 2003 Ethnic variation in tyrosinase and TYRP1 expression in photoexposed and photoprotected human skin.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12028586 2002 The etiology of oculocutaneous albinism (OCA) type II: the pink protein modulates the processing and transport of tyrosinase.
11858948 2002 A novel mutation of the tyrosinase gene causing oculocutaneous albinism type 1 (OCA1).
11720436 2001 Prostate cancer risk: associations with ultraviolet radiation, tyrosinase and melanocortin-1 receptor genotypes.
11710942 2001 Alternative splicing of the tyrosinase gene transcript in normal human melanocytes and lymphocytes.
11532853 2001 Outcome in prostate cancer associations with skin type and polymorphism in pigmentation-related genes.
11295837 2001 Mutation analysis of the tyrosinase gene in oculocutaneous albinism.
11214319 2001 Molecular phylogenetics and the origins of placental mammals.
11153699 2000 The tyrosinase gene in gorillas and the albinism of 'Snowflake'.
11092760 2000 The Menkes copper transporter is required for the activation of tyrosinase.
10987646 1999 Novel and recurrent mutations in the tyrosinase gene and the P gene in the German albino population.
10823941 2000 Endoplasmic reticulum retention is a common defect associated with tyrosinase-negative albinism.
10766867 2000 A common temperature-sensitive allelic form of human tyrosinase is retained in the endoplasmic reticulum at the nonpermissive temperature.
10671066 1998 Mutations of the human tyrosinase gene associated with tyrosinase related oculocutaneous albinism (OCA1). Mutations in brief no. 204. Online.
10571953 1999 Insertion/deletion mutations of type I oculocutaneous albinism in chinese patients from Taiwan.
10094567 1999 Molecular basis of albinism: mutations and polymorphisms of pigmentation genes associated with albinism.
9259202 1997 Novel mutations of the tyrosinase (TYR) gene in type I oculocutaneous albinism (OCA1).
9158138 1997 Apparent digenic inheritance of Waardenburg syndrome type 2 (WS2) and autosomal recessive ocular albinism (AROA).
8889548 1996 Normalization and subtraction: two approaches to facilitate gene discovery.
8644824 1996 Diagnosis of oculocutaneous albinism with molecular analysis.
8477259 1993 Molecular basis of type I (tyrosinase-related) oculocutaneous albinism: mutations and polymorphisms of the human tyrosinase gene.
8340755 1993 The tyrosinase gene codes for an antigen recognized by autologous cytolytic T lymphocytes on HLA-A2 melanomas.
8234203 1993 Evolution of the tyrosinase related gene (TYRL) in primates.
8128955 1994 Mutations of the tyrosinase gene in patients with oculocutaneous albinism from various ethnic groups in Israel.
8126111 1993 Contribution of melanogenic proteins to the heterogeneous pigmentation of human melanocytes.
8040609 1994 High-molecular-weight forms of tyrosinase and the tyrosinase-related proteins: evidence for a melanogenic complex.
7955413 1994 Initiation codon mutation of the tyrosinase gene as a cause of human albinism.
7902671 1993 Mutations of the tyrosinase gene in Indo-Pakistani patients with type I (tyrosinase-deficient) oculocutaneous albinism (OCA).
7704033 1995 Autosomal recessive ocular albinism associated with a functionally significant tyrosinase gene polymorphism.
5516239 1970 Amish albinism: a distinctive autosomal recessive phenotype.
3146546 1988 Human tyrosinase gene, mapped to chromosome 11 (q14----q21), defines second region of homology with mouse chromosome 7.
2854305 1988 Molecular basis for the heterogeneity of human tyrosinase.
2823263 1987 Isolation and sequence of a cDNA clone for human tyrosinase that maps at the mouse c-albino locus.
2567165 1989 Molecular basis of mouse Himalayan mutation.
2511845 1989 Human oculocutaneous albinism caused by single base insertion in the tyrosinase gene.
2504160 1989 Functional analysis of the cDNA encoding human tyrosinase precursor.
2499655 1989 Induction of pigmentation in mouse fibroblasts by expression of human tyrosinase cDNA.
2480811 1989 Characteristic sequences in the upstream region of the human tyrosinase gene.
2342539 1990 Detection of mutations in the tyrosinase gene in a patient with type IA oculocutaneous albinism.
2120217 1990 Molecular basis of tyrosinase-negative oculocutaneous albinism. A single base mutation in the tyrosinase gene causing arginine to glutamine substitution at position 59.
2113511 1990 Detection of point mutation in the tyrosinase gene of a Japanese albino patient by a direct sequencing of amplified DNA.
1970634 1990 A frequent tyrosinase gene mutation in classic, tyrosinase-negative (type IA) oculocutaneous albinism.
1943686 1991 Non-random distribution of missense mutations within the human tyrosinase gene in type I (tyrosinase-related) oculocutaneous albinism.
1905879 1991 Three different frameshift mutations of the tyrosinase gene in type IA oculocutaneous albinism.
1903591 1991 Tyrosinase gene mutations associated with type IB ("yellow") oculocutaneous albinism.
1903356 1991 Organization and nucleotide sequences of the human tyrosinase gene and a truncated tyrosinase-related segment.
1900309 1991 A tyrosinase gene missense mutation in temperature-sensitive type I oculocutaneous albinism. A human homologue to the Siamese cat and the Himalayan mouse.
1900307 1991 Temperature-sensitive tyrosinase associated with peripheral pigmentation in oculocutaneous albinism.
1899321 1991 Homozygous tyrosinase gene mutation in an American black with tyrosinase-negative (type IA) oculocutaneous albinism.
1832718 1991 A nonsense mutation in the tyrosinase gene of Afghan patients with tyrosinase negative (type IA) oculocutaneous albinism.
1711223 1991 A single base insertion in the putative transmembrane domain of the tyrosinase gene as a cause for tyrosinase-negative oculocutaneous albinism.
1642278 1992 Tyrosinase gene mutations in type I (tyrosinase-deficient) oculocutaneous albinism define two clusters of missense substitutions.
1487241 1992 Molecular analysis of type I-A (tyrosinase negative) oculocutaneous albinism.
1145200 1975 Intracellular distribution of free potassium in Chironomus salivary glands.
666627 1978 Heterogeneity in Waardenburg's syndrome. Report of a family with ocular albinism.