The mouse pink-eyed dilution gene: association with human Prader-Willi and Angelman syndromes
about
Mutations in the human orthologue of the mouse underwhite gene (uw) underlie a new form of oculocutaneous albinism, OCA4Integrated YAC contig map of the Prader-Willi/Angelman region on chromosome 15q11-q13 with average STS spacing of 35 kbDifferential gene expression of TRPM1, the potential cause of congenital stationary night blindness and coat spotting patterns (LP) in the Appaloosa horse (Equus caballus)A 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"A three-single-nucleotide polymorphism haplotype in intron 1 of OCA2 explains most human eye-color variationThe classical pink-eyed dilution mutation affects angiogenic responsivenessMining the melanosome for tumor vaccine targets: P.polypeptide is a novel tumor-associated antigenTargeting 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).MC1R mutations modify the classic phenotype of oculocutaneous albinism type 2 (OCA2)A model for melanosome biogenesis based on the purification and analysis of early melanosomesFine structure mapping and deletion analysis of the murine piebald locus.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.Genotype-phenotype associations and human eye color.Sequences associated with human iris pigmentation.A 122.5-kilobase deletion of the P gene underlies the high prevalence of oculocutaneous albinism type 2 in the Navajo population.Slc15a4, AP-3, and Hermansky-Pudlak syndrome proteins are required for Toll-like receptor signaling in plasmacytoid dendritic cells.An intracellular anion channel critical for pigmentation.Albinism: modern molecular diagnosisConserved function of medaka pink-eyed dilution in melanin synthesis and its divergent transcriptional regulation in gonads among vertebratesMolecular and clinical characterization of albinism in a large cohort of Italian patients.Accumulating mutations in series of haplotypes at the KIT and MITF loci are major determinants of white markings in Franches-Montagnes horses.Genetic susceptibility to tuberculosis in Africans: a genome-wide scan.A 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.An intragenic deletion of the P gene is the common mutation causing tyrosinase-positive oculocutaneous albinism in southern African NegroidsA familial "balanced" 3;9 translocation with cryptic 8q insertion leading to deletion and duplication of 9p23 loci in siblings.The neurobiology of mouse models syntenic to human chromosome 15q.Identification of a melanosomal membrane protein encoded by the pink-eyed dilution (type II oculocutaneous albinism) gene.High-frequency genetic reversion mediated by a DNA duplication: the mouse pink-eyed unstable mutation.Genome-wide transcriptome analysis of human epidermal melanocytes.Carcinogens induce reversion of the mouse pink-eyed unstable mutationEvaluation of potential models for imprinted and nonimprinted components of human chromosome 15q11-q13 syndromes by fine-structure homology mapping in the mouse.Albinism and developmental delay: the need to test for 15q11-q13 deletion.The mouse pale ear (ep) mutation is the homologue of human Hermansky-Pudlak syndromeReport of a novel OCA2 gene mutation and an investigation of OCA2 variants on melanoma risk in a familial melanoma pedigree.
P2860
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P2860
The mouse pink-eyed dilution gene: association with human Prader-Willi and Angelman syndromes
description
1992 nî lūn-bûn
@nan
1992 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
1992 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
1992年の論文
@ja
1992年論文
@yue
1992年論文
@zh-hant
1992年論文
@zh-hk
1992年論文
@zh-mo
1992年論文
@zh-tw
1992年论文
@wuu
name
The mouse pink-eyed dilution g ...... r-Willi and Angelman syndromes
@ast
The mouse pink-eyed dilution g ...... r-Willi and Angelman syndromes
@en
The mouse pink-eyed dilution g ...... r-Willi and Angelman syndromes
@nl
type
label
The mouse pink-eyed dilution g ...... r-Willi and Angelman syndromes
@ast
The mouse pink-eyed dilution g ...... r-Willi and Angelman syndromes
@en
The mouse pink-eyed dilution g ...... r-Willi and Angelman syndromes
@nl
prefLabel
The mouse pink-eyed dilution g ...... r-Willi and Angelman syndromes
@ast
The mouse pink-eyed dilution g ...... r-Willi and Angelman syndromes
@en
The mouse pink-eyed dilution g ...... r-Willi and Angelman syndromes
@nl
P2093
P1433
P1476
The mouse pink-eyed dilution g ...... r-Willi and Angelman syndromes
@en
P2093
J M Gardner
M H Brilliant
P304
P356
10.1126/SCIENCE.257.5073.1121
P407
P577
1992-08-21T00:00:00Z