The etiology of oculocutaneous albinism (OCA) type II: the pink protein modulates the processing and transport of tyrosinase
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Oculocutaneous albinismLocalization to mature melanosomes by virtue of cytoplasmic dileucine motifs is required for human OCA2 functionA global view of the OCA2-HERC2 region and pigmentationDNA variations in oculocutaneous albinism: an updated mutation list and current outstanding issues in molecular diagnosticsMolecular basis of the extreme dilution mottled mouse mutation: a combination of coding and noncoding genomic alterationsHomology modelling and virtual screening of P-protein in a quest for novel antimelanogenic agent and in vitro assessments.Identification of quinolines that inhibit melanogenesis by altering tyrosinase family trafficking.Increasing the complexity: new genes and new types of albinism.Conserved function of medaka pink-eyed dilution in melanin synthesis and its divergent transcriptional regulation in gonads among vertebratesFunctional interactions between OCA2 and the protein complexes BLOC-1, BLOC-2, and AP-3 inferred from epistatic analyses of mouse coat pigmentationReduced glutathione disrupts the intracellular trafficking of tyrosinase and tyrosinase-related protein-1 but not dopachrome tautomerase and Pmel17 to melanosomes, which results in the attenuation of melanization.A potential benefit of albinism in Astyanax cavefish: downregulation of the oca2 gene increases tyrosine and catecholamine levels as an alternative to melanin synthesisA nonsense nucleotide substitution in the oculocutaneous albinism II gene underlies the original pink-eyed dilution allele (Oca2(p)) in mice.Development of a novel pink-eyed dilution mouse model showing progressive darkening of the eyes and coat hair with aging.L-tyrosine and L-dihydroxyphenylalanine as hormone-like regulators of melanocyte functionsMechanisms of protein delivery to melanosomes in pigment cells.Tyrosinase maturation through the mammalian secretory pathway: bringing color to life.Report of a novel OCA2 gene mutation and an investigation of OCA2 variants on melanoma risk in a familial melanoma pedigree.Chapter 8. Evolution and development in the cavefish Astyanax.A Genetic Mechanism for Convergent Skin Lightening during Recent Human Evolution.A novel approach to enhance antibody sensitivity and specificity by peptide cross-linking.How are proliferation and differentiation of melanocytes regulated?Tyrosinase maturation and oligomerization in the endoplasmic reticulum require a melanocyte-specific factor.The transcription factor TBX2 regulates melanogenesis in melanocytes by repressing Oca2.Loss of Oca2 disrupts the unfolded protein response and increases resistance to endoplasmic reticulum stress in melanocytes.Pigmented-MDCK (P-MDCK) cell line with tunable melanin expression: an in vitro model for the outer blood-retinal barrierImportance of nonsynonymous OCA2 variants in human eye color prediction.Pink-eyed dilution protein modulates arsenic sensitivity and intracellular glutathione metabolism.{alpha}MSH and Cyclic AMP elevating agents control melanosome pH through a protein kinase A-independent mechanism.Changes in the proliferation and differentiation of neonatal mouse pink-eyed dilution melanocytes in the presence of excess tyrosine.Correction of defective early tyrosinase processing by bafilomycin A1 and monensin in pink-eyed dilution melanocytes.Evolution of albinism in cave planthoppers by a convergent defect in the first step of melanin biosynthesis.Tyrosinase oxidises tyrosine to dopaquinoneInheritance of a novel mutated allele of the OCA2 gene associated with high incidence of oculocutaneous albinism in a Polynesian community.Pmel17: controversial indeed but critical to melanocyte function.Characterization of OCA2 cDNA in different porcine breeds and analysis of its potential effect on skin pigmentation in a red Iberian strain.Unrevealing the role of P-protein on melanosome biology and structure, using siRNA-mediated down regulation of OCA2.In silico analysis of miRNA-mediated gene regulation in OCA and OA genes.High levels of melanin-related metabolites in plasma from pink-eyed dilution mice.Allele variations in the OCA2 gene (pink-eyed-dilution locus) are associated with genetic susceptibility to melanoma
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P2860
The etiology of oculocutaneous albinism (OCA) type II: the pink protein modulates the processing and transport of tyrosinase
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2002 nî lūn-bûn
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2002 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
2002 թվականի հունիսին հրատարակված գիտական հոդված
@hy
2002年の論文
@ja
2002年論文
@yue
2002年論文
@zh-hant
2002年論文
@zh-hk
2002年論文
@zh-mo
2002年論文
@zh-tw
2002年论文
@wuu
name
The etiology of oculocutaneous ...... ng and transport of tyrosinase
@ast
The etiology of oculocutaneous ...... ng and transport of tyrosinase
@en
The etiology of oculocutaneous ...... ng and transport of tyrosinase
@nl
type
label
The etiology of oculocutaneous ...... ng and transport of tyrosinase
@ast
The etiology of oculocutaneous ...... ng and transport of tyrosinase
@en
The etiology of oculocutaneous ...... ng and transport of tyrosinase
@nl
prefLabel
The etiology of oculocutaneous ...... ng and transport of tyrosinase
@ast
The etiology of oculocutaneous ...... ng and transport of tyrosinase
@en
The etiology of oculocutaneous ...... ng and transport of tyrosinase
@nl
P2093
P2860
P1476
The etiology of oculocutaneous ...... ng and transport of tyrosinase
@en
P2093
Gertrude-E Costin
Julio C Valencia
Kazutomo Toyofuku
Tsuneto Kushimoto
Victor J Ferrans
Victoria M Virador
Vincent J Hearing
Wilfred D Vieira
P2860
P304
P356
10.1034/J.1600-0749.2002.02007.X
P407
P577
2002-06-01T00:00:00Z