Published in J Cell Sci on August 01, 2003
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Homozygosity mapping and whole-exome sequencing to detect SLC45A2 and G6PC3 mutations in a single patient with oculocutaneous albinism and neutropenia. J Invest Dermatol (2011) 1.82
Slc15a4, AP-3, and Hermansky-Pudlak syndrome proteins are required for Toll-like receptor signaling in plasmacytoid dendritic cells. Proc Natl Acad Sci U S A (2010) 1.55
PAX6 regulates melanogenesis in the retinal pigmented epithelium through feed-forward regulatory interactions with MITF. PLoS Genet (2014) 1.52
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Genetic architecture of skin and eye color in an African-European admixed population. PLoS Genet (2013) 1.28
What controls variation in human skin color? PLoS Biol (2003) 1.27
DNA variations in oculocutaneous albinism: an updated mutation list and current outstanding issues in molecular diagnostics. Hum Mutat (2013) 1.25
Mechanisms of protein delivery to melanosomes in pigment cells. Physiology (Bethesda) (2012) 1.19
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The Tyr (albino) locus of the laboratory mouse. Mamm Genome (2004) 1.00
Mutations in SLC45A2 cause plumage color variation in chicken and Japanese quail. Genetics (2006) 0.99
Involvement of dynein and spectrin with early melanosome transport and melanosomal protein trafficking. J Invest Dermatol (2007) 0.96
{alpha}MSH and Cyclic AMP elevating agents control melanosome pH through a protein kinase A-independent mechanism. J Biol Chem (2009) 0.95
Intracellular composition of fatty acid affects the processing and function of tyrosinase through the ubiquitin-proteasome pathway. Biochem J (2006) 0.94
The microphthalmia transcription factor (Mitf) controls expression of the ocular albinism type 1 gene: link between melanin synthesis and melanosome biogenesis. Mol Cell Biol (2004) 0.91
Adaptations to local environments in modern human populations. Curr Opin Genet Dev (2014) 0.90
A customized pigmentation SNP array identifies a novel SNP associated with melanoma predisposition in the SLC45A2 gene. PLoS One (2011) 0.88
Mutations in dopachrome tautomerase (Dct) affect eumelanin/pheomelanin synthesis, but do not affect intracellular trafficking of the mutant protein. Biochem J (2005) 0.87
Rescue from oculocutaneous albinism type 4 using medaka slc45a2 cDNA driven by its own promoter. Genetics (2008) 0.87
Membrane-Associated Transporter Protein (MATP) Regulates Melanosomal pH and Influences Tyrosinase Activity. PLoS One (2015) 0.86
The unfolded protein response in melanocytes: activation in response to chemical stressors of the endoplasmic reticulum and tyrosinase misfolding. Pigment Cell Melanoma Res (2010) 0.84
Ion transport in pigmentation. Arch Biochem Biophys (2014) 0.81
Omeprazole, a gastric proton pump inhibitor, inhibits melanogenesis by blocking ATP7A trafficking. J Invest Dermatol (2014) 0.80
Mutation spectrum of the TYR and SLC45A2 genes in patients with oculocutaneous albinism. Mol Med Rep (2012) 0.79
C-terminus glycans with critical functional role in the maturation of secretory glycoproteins. PLoS One (2011) 0.79
Report of a novel OCA2 gene mutation and an investigation of OCA2 variants on melanoma risk in a familial melanoma pedigree. J Dermatol Sci (2012) 0.79
Two novel splicing mutations in the SLC45A2 gene cause Oculocutaneous Albinism Type IV by unmasking cryptic splice sites. J Hum Genet (2015) 0.77
Informed reasoning: repositioning of nitisinone to treat oculocutaneous albinism. J Clin Invest (2011) 0.75
A novel approach to enhance antibody sensitivity and specificity by peptide cross-linking. Anal Biochem (2008) 0.75
Detection of two non-synonymous SNPs in SLC45A2 on BTA20 as candidate causal mutations for oculocutaneous albinism in Braunvieh cattle. Genet Sel Evol (2017) 0.75
The color loci of mice--a genetic century. Pigment Cell Res (2003) 3.47
Human skin pigmentation: melanocytes modulate skin color in response to stress. FASEB J (2007) 2.62
The protective role of melanin against UV damage in human skin. Photochem Photobiol (2008) 2.45
BLOC-1 is required for cargo-specific sorting from vacuolar early endosomes toward lysosome-related organelles. Mol Biol Cell (2006) 2.11
The regulation of skin pigmentation. J Biol Chem (2007) 2.02
Physiological factors that regulate skin pigmentation. Biofactors (2009) 1.93
UV-induced DNA damage and melanin content in human skin differing in racial/ethnic origin. FASEB J (2003) 1.88
The effects of dickkopf 1 on gene expression and Wnt signaling by melanocytes: mechanisms underlying its suppression of melanocyte function and proliferation. J Invest Dermatol (2006) 1.72
Proteomic and bioinformatic characterization of the biogenesis and function of melanosomes. J Proteome Res (2006) 1.63
Mechanisms of skin tanning in different racial/ethnic groups in response to ultraviolet radiation. J Invest Dermatol (2005) 1.60
Mesenchymal-epithelial interactions in the skin: increased expression of dickkopf1 by palmoplantar fibroblasts inhibits melanocyte growth and differentiation. J Cell Biol (2004) 1.56
Human skin responses to UV radiation: pigment in the upper epidermis protects against DNA damage in the lower epidermis and facilitates apoptosis. FASEB J (2006) 1.55
The repeat domain of the melanosomal matrix protein PMEL17/GP100 is required for the formation of organellar fibers. J Biol Chem (2006) 1.46
Diacylglycerol kinase regulates tyrosinase expression and function in human melanocytes. J Invest Dermatol (2012) 1.43
Regulation of human skin pigmentation and responses to ultraviolet radiation. Pigment Cell Res (2007) 1.41
Involvement of ABC transporters in melanogenesis and the development of multidrug resistance of melanoma. Pigment Cell Melanoma Res (2009) 1.38
Approaches to identify inhibitors of melanin biosynthesis via the quality control of tyrosinase. J Invest Dermatol (2007) 1.37
Dual loss of ER export and endocytic signals with altered melanosome morphology in the silver mutation of Pmel17. Mol Biol Cell (2006) 1.37
MART-1 is required for the function of the melanosomal matrix protein PMEL17/GP100 and the maturation of melanosomes. J Biol Chem (2005) 1.36
SOX9 is a key player in ultraviolet B-induced melanocyte differentiation and pigmentation. Proc Natl Acad Sci U S A (2007) 1.32
Proteomic analysis of early melanosomes: identification of novel melanosomal proteins. J Proteome Res (2003) 1.31
Melanin acts as a potent UVB photosensitizer to cause an atypical mode of cell death in murine skin. Proc Natl Acad Sci U S A (2004) 1.31
Dickkopf 1 (DKK1) regulates skin pigmentation and thickness by affecting Wnt/beta-catenin signaling in keratinocytes. FASEB J (2007) 1.29
Slc7a11 gene controls production of pheomelanin pigment and proliferation of cultured cells. Proc Natl Acad Sci U S A (2005) 1.28
Upregulation of SOX9 inhibits the growth of human and mouse melanomas and restores their sensitivity to retinoic acid. J Clin Invest (2009) 1.28
Regulation of tyrosinase processing and trafficking by organellar pH and by proteasome activity. J Biol Chem (2003) 1.27
Regulation of human skin pigmentation in situ by repetitive UV exposure: molecular characterization of responses to UVA and/or UVB. J Invest Dermatol (2010) 1.27
The etiology of oculocutaneous albinism (OCA) type II: the pink protein modulates the processing and transport of tyrosinase. Pigment Cell Res (2002) 1.23
Sorting of Pmel17 to melanosomes through the plasma membrane by AP1 and AP2: evidence for the polarized nature of melanocytes. J Cell Sci (2006) 1.20
Human melanocortin 1 receptor variants, receptor function and melanocyte response to UV radiation. J Cell Sci (2002) 1.19
UVA tanning is involved in the increased incidence of skin cancers in fair-skinned young women. Pigment Cell Melanoma Res (2009) 1.19
MC1R and the response of melanocytes to ultraviolet radiation. Mutat Res (2005) 1.18
Melanosomal sequestration of cytotoxic drugs contributes to the intractability of malignant melanomas. Proc Natl Acad Sci U S A (2006) 1.18
Stimulation of melanoblast pigmentation by 8-methoxypsoralen:the involvement of microphthalmia-associated transcription factor, the protein kinase a signal pathway, and proteasome-mediated degradation. J Invest Dermatol (2002) 1.17
Reduced pigmentation (rp), a mouse model of Hermansky-Pudlak syndrome, encodes a novel component of the BLOC-1 complex. Blood (2004) 1.17
Update on the regulation of mammalian melanocyte function and skin pigmentation. Expert Rev Dermatol (2011) 1.15
Principal expression of two mRNA isoforms (ABCB 5alpha and ABCB 5beta ) of the ATP-binding cassette transporter gene ABCB 5 in melanoma cells and melanocytes. Pigment Cell Res (2005) 1.12
Glycoprotein nonmetastatic melanoma protein b, a melanocytic cell marker, is a melanosome-specific and proteolytically released protein. FASEB J (2010) 1.12
Cyclobutane pyrimidine dimer formation and p53 production in human skin after repeated UV irradiation. Exp Dermatol (2008) 1.08
Regulation of eumelanin/pheomelanin synthesis and visible pigmentation in melanocytes by ligands of the melanocortin 1 receptor. Pigment Cell Melanoma Res (2008) 1.07
Tyrosinase: a developmentally specific major determinant of peripheral dopamine. FASEB J (2003) 1.06
Comparative Bioinformatics Analyses and Profiling of Lysosome-Related Organelle Proteomes. Int J Mass Spectrom (2007) 1.04
Aberrant trafficking of human melanocortin 1 receptor variants associated with red hair and skin cancer: Steady-state retention of mutant forms in the proximal golgi. J Cell Physiol (2009) 1.03
Sialylated core 1 O-glycans influence the sorting of Pmel17/gp100 and determine its capacity to form fibrils. J Biol Chem (2007) 1.03
Interallelic complementation at the mouse Mitf locus. Genetics (2003) 1.02
Fatty acids regulate pigmentation via proteasomal degradation of tyrosinase: a new aspect of ubiquitin-proteasome function. J Biol Chem (2004) 1.01
The Tyr (albino) locus of the laboratory mouse. Mamm Genome (2004) 1.00
The fibroblast-derived paracrine factor neuregulin-1 has a novel role in regulating the constitutive color and melanocyte function in human skin. J Cell Sci (2010) 1.00
Microarray analysis sheds light on the dedifferentiating role of agouti signal protein in murine melanocytes via the Mc1r. Proc Natl Acad Sci U S A (2009) 1.00
Epitope mapping of the melanosomal matrix protein gp100 (PMEL17): rapid processing in the endoplasmic reticulum and glycosylation in the early Golgi compartment. J Biol Chem (2004) 1.00
Evidence for the ectopic synthesis of melanin in human adipose tissue. FASEB J (2008) 0.98
The inhibitory effect of androgen and sex-hormone-binding globulin on the intracellular cAMP level and tyrosinase activity of normal human melanocytes. Pigment Cell Res (2003) 0.98
Melanocytes and their diseases. Cold Spring Harb Perspect Med (2014) 0.97
The secreted form of a melanocyte membrane-bound glycoprotein (Pmel17/gp100) is released by ectodomain shedding. FASEB J (2009) 0.97
Pigmentation effects of solar-simulated radiation as compared with UVA and UVB radiation. Pigment Cell Melanoma Res (2008) 0.97
Direct interaction of tyrosinase with Tyrp1 to form heterodimeric complexes in vivo. J Cell Sci (2007) 0.97
Mesenchymal-epithelial interactions in the skin: aiming for site-specific tissue regeneration. J Dermatol Sci (2005) 0.97
The deceptive nature of UVA tanning versus the modest protective effects of UVB tanning on human skin. Pigment Cell Melanoma Res (2010) 0.97
Involvement of dynein and spectrin with early melanosome transport and melanosomal protein trafficking. J Invest Dermatol (2007) 0.96
Melanin mediated apoptosis of epidermal cells damaged by ultraviolet radiation: factors influencing the incidence of skin cancer. Arch Dermatol Res (2008) 0.95
Intracellular composition of fatty acid affects the processing and function of tyrosinase through the ubiquitin-proteasome pathway. Biochem J (2006) 0.94
The Seiji memorial lecture: the melanosome: an ideal model to study cellular differentiation. Pigment Cell Res (2003) 0.93
Regulation of melanocortin 1 receptor expression at the mRNA and protein levels by its natural agonist and antagonist. FASEB J (2003) 0.93
AMP kinase-related kinase NUAK2 affects tumor growth, migration, and clinical outcome of human melanoma. Proc Natl Acad Sci U S A (2011) 0.92
Forskolin protects keratinocytes from UVB-induced apoptosis and increases DNA repair independent of its effects on melanogenesis. J Invest Dermatol (2008) 0.91
NUAK2: an emerging acral melanoma oncogene. Oncotarget (2011) 0.90
A melanocyte-keratinocyte coculture model to assess regulators of pigmentation in vitro. Anal Biochem (2002) 0.90
Down-regulation of melanogenesis by phospholipase D2 through ubiquitin proteasome-mediated degradation of tyrosinase. J Biol Chem (2004) 0.90
Reconstituted 3-dimensional human skin of various ethnic origins as an in vitro model for studies of pigmentation. Anal Biochem (2003) 0.89