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The rs387907171 SNP in TYRP1 exhibits strong allele frequency differences among islands in Northern Island Melanesia. Its absence from Bougainville, as well as the weak association with decreased hair color, indicates that additional alleles contribute to the blondism phenotype.
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TYRP1-dependent miR-16 sequestration can also be overcome in vivo by using small oligonucleotides that mask miR-16-binding sites on TYRP1 mRNA.
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The mRNA of TYRP1 is now found to sequester the tumour suppressor miR-16.
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DNA sequencing showed that the patient has carried compound heterozygous mutations of the tyrosinase related protein (TYRP1) gene, namely c.1214C>A (p.T405N) and c.1333dupG, which were inherited from his mother and father, respectively.
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Single nucleotide polymorphisms in TYRP1 gene is associated with multiple primary melanoma.
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Mutation in TYRP1 is associated with oculocutaneous albinism.
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Polymorphisms in 3'UTR of TYRP1 mRNA can affect TYRP1 mRNA regulation by miR-155 and its subsequent translation into protein. These SNPs can render TYRP1 mRNA and protein expression nonsusceptible to miR-155 activity
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These data suggest that UVB-stimulated Ucn1 contributes to TRP1 production via the transcription of both Nurr-1 and Nur77. Ucn1, produced in melanoma cells, acts on melanoma cells themselves in an autocrine manner.
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These data indicate that galectin-3 is a regulatory component in melanin synthesis affecting the expression of Tyrp-1.
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p53 regulation by TRP2 is not pervasive in melanoma.
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Due to mutation in Tyrp1 protein, it became more rigid and might disturb the structural conformation and catalytic function of the structure and might also play a significant role in inducing oculocutaneous albinism type III.
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in human melanoma HMV-II cells both CRF and Ucn1 regulate TRP1 gene expression via Nurr-1/Nur77 production, independent of pro-opiomelanocortin or alpha-melanocyte-stimulating hormone stimulation.
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High TYRP1/S100B mRNA expression in lymph node metastases from melanoma patients is associated with unfavourable clinical outcome.
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We report four Pakistani albinism mutations, including three SLC45A2 alleles and one 22-nucleotide deletion in TYRP1.
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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.
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identifed an arginine-to-cysteine change at a highly conserved residue in TYRP1 as a major determinant of blond hair in Solomon Islanders; this missense mutation predicted to affect catalytic activity of TYRP1 and causes blond hair through a recessive mode of inheritance
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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.
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We used the first ranked gene, tyrosinase-related protein 1 (TYRP1), further measured its expression in the validation population by real-time PCR and found it to be significantly correlated with distant metastasis-free survival.
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two novel mutations in TYRP1 gene in two Chinese patients with oculocutaneous albinism type 3
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Case Report: Report a Japanese girl with oculocutaneous albinism type 3 and novel mutations in TYRP1 gene.
