The mouse p (pink-eyed dilution) and human P genes, oculocutaneous albinism type 2 (OCA2), and melanosomal pH
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ATR suppresses endogenous DNA damage and allows completion of homologous recombination repairMutational analysis of oculocutaneous albinism: a compact reviewGenetic architecture of skin and eye color in an African-European admixed populationHERC2 rs12913832 modulates human pigmentation by attenuating chromatin-loop formation between a long-range enhancer and the OCA2 promoterLocalization to mature melanosomes by virtue of cytoplasmic dileucine motifs is required for human OCA2 functionPARP1 suppresses homologous recombination events in mice in vivoMelanosomes--dark organelles enlighten endosomal membrane transportThree genome-wide association studies and a linkage analysis identify HERC2 as a human iris color geneA single SNP in an evolutionary conserved region within intron 86 of the HERC2 gene determines human blue-brown eye colorA three-single-nucleotide polymorphism haplotype in intron 1 of OCA2 explains most human eye-color variationSox6 directly silences epsilon globin expression in definitive erythropoiesis.The etiology of oculocutaneous albinism (OCA) type II: the pink protein modulates the processing and transport of tyrosinaseUpdate on the regulation of mammalian melanocyte function and skin pigmentationThe regulation of epidermal melanogenesis via cAMP and/or PKC signaling pathways: insights for the development of hypopigmenting agentsMutational Analysis of the TYR and OCA2 Genes in Four Chinese Families with Oculocutaneous AlbinismSynteny and candidate gene prediction using an anchored linkage map of Astyanax mexicanusInduction of homologous recombination following in utero exposure to DNA-damaging agents.Ethnic and mouse strain differences in central corneal thickness and association with pigmentation phenotype.Genotype-phenotype associations and human eye color.The convergent evolution of blue iris pigmentation in primates took distinct molecular paths.A 122.5-kilobase deletion of the P gene underlies the high prevalence of oculocutaneous albinism type 2 in the Navajo population.Effects of pH on aggregation kinetics of the repeat domain of a functional amyloid, Pmel17.Single-nucleotide polymorphisms in pigment genes and nonmelanoma skin cancer predisposition: a systematic review.An intracellular anion channel critical for pigmentation.The dark side of lysosome-related organelles: specialization of the endocytic pathway for melanosome biogenesis.Signatures of positive selection in genes associated with human skin pigmentation as revealed from analyses of single nucleotide polymorphisms.Repeat domains of melanosome matrix protein Pmel17 orthologs form amyloid fibrils at the acidic melanosomal pH.Lysophospholipid-containing membranes modulate the fibril formation of the repeat domain of a human functional amyloid, pmel17.Longitudinal fundus and retinal studies with SD-OCT: a comparison of five mouse inbred strains.Functional interactions between OCA2 and the protein complexes BLOC-1, BLOC-2, and AP-3 inferred from epistatic analyses of mouse coat pigmentationThe retinal pigment epithelium undergoes massive apoptosis during early differentiation and pigmentation of the optic cup.A potential benefit of albinism in Astyanax cavefish: downregulation of the oca2 gene increases tyrosine and catecholamine levels as an alternative to melanin synthesisMapping of the Faded (fe) Gene to a Region between D10mit191 and D10mit44 on Mouse Chromosome 10A conditional mouse model for measuring the frequency of homologous recombination events in vivo in the absence of essential genes.Forward signaling by EphB1/EphB2 interacting with ephrin-B ligands at the optic chiasm is required to form the ipsilateral projectionA nonsense nucleotide substitution in the oculocutaneous albinism II gene underlies the original pink-eyed dilution allele (Oca2(p)) in mice.Analysis of ocular hypopigmentation in Rab38cht/cht mice.Amelanism in the corn snake is associated with the insertion of an LTR-retrotransposon in the OCA2 gene.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.
P2860
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P2860
The mouse p (pink-eyed dilution) and human P genes, oculocutaneous albinism type 2 (OCA2), and melanosomal pH
description
2001 nî lūn-bûn
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2001 թուականի Ապրիլին հրատարակուած գիտական յօդուած
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2001 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
2001年の論文
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2001年論文
@yue
2001年論文
@zh-hant
2001年論文
@zh-hk
2001年論文
@zh-mo
2001年論文
@zh-tw
2001年论文
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name
The mouse p (pink-eyed dilutio ...... e 2 (OCA2), and melanosomal pH
@ast
The mouse p (pink-eyed dilutio ...... e 2 (OCA2), and melanosomal pH
@en
The mouse p (pink-eyed dilutio ...... e 2 (OCA2), and melanosomal pH
@nl
type
label
The mouse p (pink-eyed dilutio ...... e 2 (OCA2), and melanosomal pH
@ast
The mouse p (pink-eyed dilutio ...... e 2 (OCA2), and melanosomal pH
@en
The mouse p (pink-eyed dilutio ...... e 2 (OCA2), and melanosomal pH
@nl
prefLabel
The mouse p (pink-eyed dilutio ...... e 2 (OCA2), and melanosomal pH
@ast
The mouse p (pink-eyed dilutio ...... e 2 (OCA2), and melanosomal pH
@en
The mouse p (pink-eyed dilutio ...... e 2 (OCA2), and melanosomal pH
@nl
P1476
The mouse p (pink-eyed dilutio ...... e 2 (OCA2), and melanosomal pH
@en
P2093
M H Brilliant
P356
10.1034/J.1600-0749.2001.140203.X
P407
P577
2001-04-01T00:00:00Z