A missense mutation in PMEL17 is associated with the Silver coat color in the horse
about
Missense mutation in exon 2 of SLC36A1 responsible for champagne dilution in horsesA high density SNP array for the domestic horse and extant Perissodactyla: utility for association mapping, genetic diversity, and phylogeny studiesEquine Multiple Congenital Ocular Anomalies maps to a 4.9 megabase interval on horse chromosome 6Differential gene expression of TRPM1, the potential cause of congenital stationary night blindness and coat spotting patterns (LP) in the Appaloosa horse (Equus caballus)Melanosomes--dark organelles enlighten endosomal membrane transportInactivation of Pmel alters melanosome shape but has only a subtle effect on visible pigmentationSignatures of positive selection in East African Shorthorn Zebu: A genome-wide single nucleotide polymorphism analysisWhole genome sequence and analysis of the Marwari horse breed and its genetic originNext generation sequencing gives an insight into the characteristics of highly selected breeds versus non-breed horses in the course of domestication.Equine multiple congenital ocular anomalies and silver coat colour result from the pleiotropic effects of mutant PMEL.Genetic effects on coat colour in cattle: dilution of eumelanin and phaeomelanin pigments in an F2-Backcross Charolais x Holstein population.Multiple splice variants within the bovine silver homologue (SILV) gene affecting coat color in cattle indicate a function additional to fibril formation in melanophores.The refractive state of the eye in Icelandic horses with the Silver mutation.Function, therapeutic potential and cell biology of BACE proteases: current status and future prospects.Multiple congenital ocular anomalies in Icelandic horses.Two SNPs in the SILV gene are associated with silver coat colour in ponies.Mutations in or near the transmembrane domain alter PMEL amyloid formation from functional to pathogenicWhole-genome sequencing and genetic variant analysis of a Quarter Horse mareComparative transcriptome analysis reveals the genetic basis of skin color variation in common carp.Interaction of MC1R and PMEL alleles on solid coat colors in Highland cattle.Identification of genes related to white and black plumage formation by RNA-Seq from white and black feather bulbs in ducks.Ultrasonographic features of PMEL17 (Silver) mutant gene-associated multiple congenital ocular anomalies (MCOA) in Comtois and Rocky Mountain horses.Genome-wide analysis reveals selection for important traits in domestic horse breeds.Equine Multiple Congenital Ocular Anomalies (MCOA) syndrome in PMEL17 (Silver) mutant ponies: five cases.Equine clinical genomics: A clinician's primer.Mapping of the domestic cat "SILVER" coat color locus identifies a unique genomic location for silver in mammals.Ancient genomic changes associated with domestication of the horse.The Kringle-like Domain Facilitates Post-endoplasmic Reticulum Changes to Premelanosome Protein (PMEL) Oligomerization and Disulfide Bond Configuration and Promotes Amyloid Formation.Pharmacological BACE1 and BACE2 inhibition induces hair depigmentation by inhibiting PMEL17 processing in mice.Congenital ocular anomalies in purebred and crossbred Rocky and Kentucky Mountain horses in CanadaPremelanosome amyloid-like fibrils are composed of only golgi-processed forms of Pmel17 that have been proteolytically processed in endosomes.Domestic animals as models for biomedical research.PMEL: a pigment cell-specific model for functional amyloid formationFormation of Pmel17 amyloid is regulated by juxtamembrane metalloproteinase cleavage, and the resulting C-terminal fragment is a substrate for gamma-secretaseA mutation within the transmembrane domain of melanosomal protein Silver (Pmel17) changes lumenal fragment interactions.N-terminal domains elicit formation of functional Pmel17 amyloid fibrilsHarnessing the genetic toolbox for the benefit of the racing Thoroughbred.Comparison of bone morphogenetic protein-2 and osteoactivin for mesenchymal cell differentiation: effects of bolus and continuous administration.Targeted analysis of four breeds narrows equine Multiple Congenital Ocular Anomalies locus to 208 kilobases.Identification of copy number variants in horses.
P2860
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P2860
A missense mutation in PMEL17 is associated with the Silver coat color in the horse
description
2006 nî lūn-bûn
@nan
2006 թուականին հրատարակուած գիտական յօդուած
@hyw
2006 թվականին հրատարակված գիտական հոդված
@hy
2006年の論文
@ja
2006年論文
@yue
2006年論文
@zh-hant
2006年論文
@zh-hk
2006年論文
@zh-mo
2006年論文
@zh-tw
2006年论文
@wuu
name
A missense mutation in PMEL17 is associated with the Silver coat color in the horse
@ast
A missense mutation in PMEL17 is associated with the Silver coat color in the horse
@en
A missense mutation in PMEL17 is associated with the Silver coat color in the horse
@en-gb
A missense mutation in PMEL17 is associated with the Silver coat color in the horse
@nl
type
label
A missense mutation in PMEL17 is associated with the Silver coat color in the horse
@ast
A missense mutation in PMEL17 is associated with the Silver coat color in the horse
@en
A missense mutation in PMEL17 is associated with the Silver coat color in the horse
@en-gb
A missense mutation in PMEL17 is associated with the Silver coat color in the horse
@nl
prefLabel
A missense mutation in PMEL17 is associated with the Silver coat color in the horse
@ast
A missense mutation in PMEL17 is associated with the Silver coat color in the horse
@en
A missense mutation in PMEL17 is associated with the Silver coat color in the horse
@en-gb
A missense mutation in PMEL17 is associated with the Silver coat color in the horse
@nl
P2093
P2860
P356
P1433
P1476
A missense mutation in PMEL17 is associated with the Silver coat color in the horse
@en
P2093
Emma Brunberg
Gabriella Lindgren
Gus Cothran
Kaj Sandberg
P2860
P2888
P356
10.1186/1471-2156-7-46
P407
P577
2006-01-01T00:00:00Z
P5875
P6179
1051000819