Organization and sequence of the human P gene and identification of a new family of transport proteins
about
Association of the OCA2 polymorphism His615Arg with melanin content in east Asian populations: further evidence of convergent evolution of skin pigmentationMelanocytes in the skin--comparative whole transcriptome analysis of main skin cell typesOculocutaneous albinismMutational analysis of oculocutaneous albinism: a compact reviewLocalization to mature melanosomes by virtue of cytoplasmic dileucine motifs is required for human OCA2 functionIn Southern Africa, brown oculocutaneous albinism (BOCA) maps to the OCA2 locus on chromosome 15q: P-gene mutations identified.Structure of the highly conserved HERC2 gene and of multiple partially duplicated paralogs in humanGenetic testing for oculocutaneous albinism type 1 and 2 and Hermansky-Pudlak syndrome type 1 and 3 mutations in Puerto RicoA 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 variationHuman pigmentation genes under environmental selectionMutational Analysis of the TYR and OCA2 Genes in Four Chinese Families with Oculocutaneous AlbinismPhysical and linkage mapping of the porcine pink-eye dilution gene ( OCA2 )Homology modelling and virtual screening of P-protein in a quest for novel antimelanogenic agent and in vitro assessments.Targeting the microphthalmia basic helix-loop-helix-leucine zipper transcription factor to a subset of E-box elements in vitro and in vivoThe pink-eyed dilution gene and the molecular pathogenesis of tyrosinase-positive albinism (OCA2).Myotis rufoniger genome sequence and analyses: M. rufoniger's genomic feature and the decreasing effective population size of Myotis bats.Adaptation of human skin color in various populations.Relationship between foveal cone specialization and pit morphology in albinismMC1R mutations modify the classic phenotype of oculocutaneous albinism type 2 (OCA2)Complementation analyses for 45 mutations encompassing the pink-eyed dilution (p) locus of the mouse.Molecular analysis of 36 mutations at the mouse pink-eyed dilution (p) locus.Spectrum of candidate gene mutations associated with Indian familial oculocutaneous and ocular albinism.Does levodopa improve vision in albinism? Results of a randomized, controlled clinical trial.A 122.5-kilobase deletion of the P gene underlies the high prevalence of oculocutaneous albinism type 2 in the Navajo population.Ocular Findings in Patients with the Hermansky-Pudlak Syndrome (Types 1 and 3).Conserved function of medaka pink-eyed dilution in melanin synthesis and its divergent transcriptional regulation in gonads among vertebratesScreening of TYR, OCA2, GPR143, and MC1R in patients with congenital nystagmus, macular hypoplasia, and fundus hypopigmentation indicating albinism.Differential recognition of a dileucine-based sorting signal by AP-1 and AP-3 reveals a requirement for both BLOC-1 and AP-3 in delivery of OCA2 to melanosomes.Human melanocyte biology, toxicology, and pathology.Comprehensive analysis of oculocutaneous albinism among non-Hispanic caucasians shows that OCA1 is the most prevalent OCA type.Report of a novel OCA2 gene mutation and an investigation of OCA2 variants on melanoma risk in a familial melanoma pedigree.Albinism in phylogenetically and geographically distinct populations of Astyanax cavefish arises through the same loss-of-function Oca2 alleleClinical Insights Into Foveal Morphology in AlbinismMolecular analysis of Korean patients with oculocutaneous albinism.Ion transport in pigmentation.Brazilian quilombos: A repository of Amerindian alleles.Pink-eyed dilution protein controls the processing of tyrosinase.Pink-eyed dilution protein modulates arsenic sensitivity and intracellular glutathione metabolism.Susceptibility of proliferating cells to benzo[a]pyrene-induced homologous recombination in mice.
P2860
Q21092445-69641E3C-C7B3-45F5-B296-53659FD6DCADQ21131830-F79D9F45-686E-418F-8700-40310D39E351Q21202962-A3CD947D-809C-4D15-A895-C554813EC8A4Q21284502-576E04E4-C830-4CE2-87FC-8244B7C5D2D6Q24312002-B4506269-A2A8-46DA-A2DE-128EF88BB3E7Q24536246-1F97DEC5-DABA-463D-8E49-41F2A060CF01Q24614728-F51761B5-F903-4C1E-96F4-F7E083593791Q24629069-70BB11A3-CB0E-4823-AEE1-962CBA0793DBQ24629069-8B87BF60-FD89-4BC2-A18A-F7273518050CQ24656429-80AAF858-14AD-4580-BEDB-8972D23AF49CQ24680346-B2A8A64F-8E8E-4AA3-B5DC-F919AFB24BEDQ26865756-E45BD617-8195-4A36-A7EB-7E1A8AF4FC31Q28546782-FEAC387B-6829-408C-8E9C-E5B017F00534Q28593874-7CACFB4E-CC25-46A2-B1F1-15513FC9E64DQ30366977-3B2A4E93-E20A-4146-ABFA-0F7D2114E7D1Q33781625-B0B686BE-5C93-4A3F-A4EC-88CDCCD15793Q33817888-99F978E8-387E-4082-96E8-DC5BB642326EQ33874135-BBC0C478-5EB1-4CF2-99FD-C162557E3EC9Q33886501-FB359658-37F3-4B7E-B2BA-49CB51B214BBQ33901490-5ED3C0EF-4439-4001-A684-7E6139C1D46DQ33906371-CBD5BD9B-82A9-4C09-8507-3F151D6523ECQ33966349-B333D344-7A7B-45AE-AD9D-4F15F14F35B0Q33966355-E3A0543C-6557-42FC-A13C-7962AA22C1BAQ34079314-E35EC14E-B121-45C8-A736-1543E3375C60Q34214644-C564F428-42B4-4C0D-ADD0-0F9ABB7003EEQ34354851-2AF88002-3AD6-4AAA-AB78-0C98328218A2Q34514157-5C7BF6A4-E802-4FF6-AE32-058023F6AE84Q34569576-6C38E048-6079-43C4-A046-4BF80C683922Q34882442-5DC4D4CC-CDD3-4959-A36C-167239EE9F6DQ36161681-4AA7A70E-C93A-436D-A1D6-4080B2B69FF6Q36314397-0170782E-0EFF-4AD7-9820-900FF3DC39E9Q36448930-DF9F953D-B75E-4839-AD2E-7AEC7631D253Q36641919-959B2206-0504-4D29-BB38-1D09E982D263Q37026895-858A7570-7850-4917-BF6F-BA9427036CC6Q37104043-F409CAC5-8210-419F-9C02-FC9A28A1E6A4Q37951396-4EC11981-C4CB-4E77-94B4-DDD0BDF6044AQ38230708-11144D76-92C8-4A47-BE79-ECCF2E08D9C7Q39256242-FDDDFCAC-FE85-43C4-BEB2-A753F19F084AQ39617200-495E25C5-3F9F-4A17-9F42-DA28D1969256Q39691845-93C8DE48-F921-42F2-B852-3CDBB70E76B6
P2860
Organization and sequence of the human P gene and identification of a new family of transport proteins
description
1995 nî lūn-bûn
@nan
1995 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
1995 թվականի մարտին հրատարակված գիտական հոդված
@hy
1995年の論文
@ja
1995年論文
@yue
1995年論文
@zh-hant
1995年論文
@zh-hk
1995年論文
@zh-mo
1995年論文
@zh-tw
1995年论文
@wuu
name
Organization and sequence of t ...... w family of transport proteins
@ast
Organization and sequence of t ...... w family of transport proteins
@en
Organization and sequence of t ...... w family of transport proteins
@en-gb
Organization and sequence of t ...... w family of transport proteins
@nl
type
label
Organization and sequence of t ...... w family of transport proteins
@ast
Organization and sequence of t ...... w family of transport proteins
@en
Organization and sequence of t ...... w family of transport proteins
@en-gb
Organization and sequence of t ...... w family of transport proteins
@nl
prefLabel
Organization and sequence of t ...... w family of transport proteins
@ast
Organization and sequence of t ...... w family of transport proteins
@en
Organization and sequence of t ...... w family of transport proteins
@en-gb
Organization and sequence of t ...... w family of transport proteins
@nl
P2093
P1433
P1476
Organization and sequence of t ...... w family of transport proteins
@en
P2093
P304
P356
10.1016/0888-7543(95)80220-G
P407
P577
1995-03-01T00:00:00Z