A gene for the mouse pink-eyed dilution locus and for human type II oculocutaneous albinism
about
Oculocutaneous albinismMutational analysis of oculocutaneous albinism: a compact reviewHERC2 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 functionOculocutaneous albinism type 4 is one of the most common types of albinism in Japan.Mutations in the human orthologue of the mouse underwhite gene (uw) underlie a new form of oculocutaneous albinism, OCA4In Southern Africa, brown oculocutaneous albinism (BOCA) maps to the OCA2 locus on chromosome 15q: P-gene mutations identified.Identification of novel imprinted transcripts in the Prader-Willi syndrome and Angelman syndrome deletion region: further evidence for regional imprinting controlIntegrated YAC contig map of the Prader-Willi/Angelman region on chromosome 15q11-q13 with average STS spacing of 35 kbGenetic variants in pigmentation genes, pigmentary phenotypes, and risk of skin cancer in CaucasiansAssembly of the cnidarian camera-type eye from vertebrate-like componentsThree 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 colorFrequent intragenic deletion of the P gene in Tanzanian patients with type II oculocutaneous albinism (OCA2)Mutation in and lack of expression of tyrosinase-related protein-1 (TRP-1) in melanocytes from an individual with brown oculocutaneous albinism: a new subtype of albinism classified as "OCA3"Rufous oculocutaneous albinism in southern African Blacks is caused by mutations in the TYRP1 geneAngelman syndrome: a review of the clinical and genetic aspectsA three-single-nucleotide polymorphism haplotype in intron 1 of OCA2 explains most human eye-color variationCurrent aspects of vitiligo geneticsThe etiology of oculocutaneous albinism (OCA) type II: the pink protein modulates the processing and transport of tyrosinaseMutations in the MATP gene in five German patients affected by oculocutaneous albinism type 4Genomic organization and FISH mapping of human Pmel 17, the putative silver locusGenome-wide association analyses identify 13 new susceptibility loci for generalized vitiligoHomology modelling and virtual screening of P-protein in a quest for novel antimelanogenic agent and in vitro assessments.Mining the melanosome for tumor vaccine targets: P.polypeptide is a novel tumor-associated antigenMonoallelic expression of multiple genes in the CNS.Associations of hypomelanotic skin disorders with autism: Do they reflect the effects of genetic mutations and epigenetic factors on vitamin-D metabolism in individuals at risk for autism?Homozygosity mapping and whole-exome sequencing to detect SLC45A2 and G6PC3 mutations in a single patient with oculocutaneous albinism and neutropeniaA clinical, cytogenetic, and molecular study of 40 adults with the Prader-Willi syndrome.A boy with developmental delay and a maternally inherited deletion in 15q11q13Distribution of oculocutaneous albinism in ZimbabweOculocutaneous albinism in an isolated Tonga community in Zimbabwe.Oculocutaneous albinism among schoolchildren in Harare, Zimbabwe.The pink-eyed dilution gene and the molecular pathogenesis of tyrosinase-positive albinism (OCA2).Functional annotation of mammalian genomic DNA sequence by chemical mutagenesis: a fine-structure genetic mutation map of a 1- to 2-cM segment of mouse chromosome 7 corresponding to human chromosome 11p14-p15.A model for melanosome biogenesis based on the purification and analysis of early melanosomesMolecular genetics of the brown (b)-locus region of mouse chromosome 4. II. Complementation analyses of lethal brown deletions.The original pink-eyed dilution mutation (p) arose in Asiatic mice: implications for the H4 minor histocompatibility antigen, Myod1 regulation and the origin of inbred strains.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.
P2860
Q21202962-953F2F4D-4F74-4EB5-9E6F-CD69999B7228Q21284502-36953B15-E4C2-4433-BFFC-7E8809B43553Q24301601-DCE38428-AD9E-4873-9FFE-C87B4DD0362AQ24312002-EDF28E7F-6286-4491-B94B-4FF7D62D49B0Q24534208-2E9C8DA3-B946-4D0E-918B-F6A2D66195D9Q24536147-19AB0CB2-BB27-4724-A86A-48FB2DEC6CE6Q24536246-29261B65-AEFA-4219-8D45-3A6DCCC17818Q24539092-6FAD247D-ADAF-41D8-B503-9E9336348F46Q24628031-A6F8D889-7E01-4241-9B7C-8FB65A38D58CQ24642114-2A31D4D8-6992-435B-BFC8-EC7B72A242F9Q24645612-E9F5C1BF-B90C-4657-9429-F6717A8496DDQ24656270-BE7A1D7D-697B-4AA9-B579-BD18BFD78C0DQ24656429-33B76776-6B50-4C32-939A-D55642CB415AQ24673202-41D96B6A-D063-49A7-B3A5-480C8E919D6CQ24675211-FE360C25-C17F-4B2A-86D2-36170AB3A71BQ24677297-610D1221-FBDF-4AEC-B8F3-01AA5C309AB8Q24678174-AECF0243-15ED-446A-942C-029CCB8B5DB3Q24680346-D58F5464-3D3D-4C6F-A99A-E69FA2B9746DQ27003993-95142911-F804-4DFB-A8BB-B7591D6E4C2DQ28218945-B8001D40-5799-43F8-9CCC-941258EB99DFQ28238670-ED645FB8-E50B-44FE-8756-5149B0610077Q28286162-1B744CBE-5495-49D8-A69D-9767FC5B81DCQ28924362-3DD576F9-8009-424D-BED7-BAF67FCE83A4Q30366977-EEC9632A-DF97-457A-9CFF-241A26076B8CQ30767834-FC05663C-C893-4D30-A2C0-1756DF09AF91Q33309940-C2017F30-DE3B-4FDA-BED7-53CC7CD5E005Q33358843-52CA91E7-39E8-4127-B9FD-D176E44B18CBQ33395814-2FF9F4D6-ACE9-46F4-ACB0-99C9A7DEF471Q33676035-A9B585D2-9350-49D4-871C-A12589F6B3FFQ33677377-FDE3C1C6-F3B9-480C-9181-F8009993BBEBQ33677630-5B86DC69-61CE-442A-B37E-CFCC59649C59Q33679381-D9FDFABD-1ED6-4AA5-B78E-9B31474BDF78Q33682737-B2023BA0-35FE-48B3-A332-4518D05C1345Q33817888-2262B861-D755-4854-89D4-F9609AC24A39Q33894561-BA51B1C5-0B40-44FC-B8EB-C05A90776514Q33943742-ABCBA1FE-E01E-4F74-B50E-6D074E29AE4EQ33963263-7CD49694-A8B7-4B32-A735-5A446A982055Q33963539-061F36D1-4B21-4D9E-BE85-73F0C4CA7558Q33966349-005F4136-519A-4C6F-B801-1033DF833112Q33966355-0602FD42-9910-4DD6-B3A7-A683DDEDD3B8
P2860
A gene for the mouse pink-eyed dilution locus and for human type II oculocutaneous albinism
description
1993 nî lūn-bûn
@nan
1993 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
1993 թվականի հունվարին հրատարակված գիտական հոդված
@hy
1993年の論文
@ja
1993年論文
@yue
1993年論文
@zh-hant
1993年論文
@zh-hk
1993年論文
@zh-mo
1993年論文
@zh-tw
1993年论文
@wuu
name
A gene for the mouse pink-eyed ...... ype II oculocutaneous albinism
@ast
A gene for the mouse pink-eyed ...... ype II oculocutaneous albinism
@en
A gene for the mouse pink-eyed ...... ype II oculocutaneous albinism
@en-gb
A gene for the mouse pink-eyed ...... ype II oculocutaneous albinism
@nl
type
label
A gene for the mouse pink-eyed ...... ype II oculocutaneous albinism
@ast
A gene for the mouse pink-eyed ...... ype II oculocutaneous albinism
@en
A gene for the mouse pink-eyed ...... ype II oculocutaneous albinism
@en-gb
A gene for the mouse pink-eyed ...... ype II oculocutaneous albinism
@nl
prefLabel
A gene for the mouse pink-eyed ...... ype II oculocutaneous albinism
@ast
A gene for the mouse pink-eyed ...... ype II oculocutaneous albinism
@en
A gene for the mouse pink-eyed ...... ype II oculocutaneous albinism
@en-gb
A gene for the mouse pink-eyed ...... ype II oculocutaneous albinism
@nl
P2093
P356
P1433
P1476
A gene for the mouse pink-eyed ...... ype II oculocutaneous albinism
@en
P2093
B Horsthemke
E M Rinchik
K M Avidano
K M Strunk
R A Spritz
R D Nicholls
S J Bultman
P2888
P356
10.1038/361072A0
P407
P577
1993-01-07T00:00:00Z
P6179
1028016425