Pleiotropic effects of coat colour-associated mutations in humans, mice and other mammals.
Semin Cell Dev Biol
; 24(6-7): 576-86, 2013.
Article
em En
| MEDLINE
| ID: mdl-23583561
Palavras-chave
AS; ASIP; ATRN; Agouti signalling protein; Albino; Angelman syndrome; Attractin (mahogany); BLOC; Biogenesis of lysosomal organelles complex; CCSD; CHS; CSD; CSNB; Canine congenital sensorineural deafness; Chediak-Higashi syndrome; Coat colour gene; Congenital sensorineural deafness; Congenital stationary night blindness; Disorder; EDN3; EDNRB; Endothelin 3; Endothelin receptor type B; Epistasis; Fitness; GS; Griscelli syndrome (type 1 or 2); HPS; HSCR; Hermansky-Pudlak syndrome with different types; Hirschsprung disease; IPE; Iris pigment epithelium; KIT; KIT ligand (steel factor); KITLG; LFS; LYST; Lavender foal syndrome; Lethal; Leucism; Lysosomal trafficking regulator; MC1R; MCOA; MCOLN3; MGRN1; MITF; MYO5A; Mahogunin ring finger 1 (E3 ubiquitin protein ligase); Melanocortin 1 receptor; Melanoma; Microphthalmia-associated transcription factor; Mucolipin 3 (TRPML3); Multiple congenital ocular anomalies; Myosin VA (heavy chain 12, myoxin); OA; OCA; OCA2; OLWS; OSTM1; Ocular albinism; Oculocutaneous albinism II (pink-eye dilution homolog); Oculocutaneous albinism type 14; Osteopetrosis associated transmembrane protein 1 (Grey lethal osteopetrosis); Overo lethal white syndrome; PAX3; PMEL; PWS; Paired box 3; Pleiotropy; Prader-Willi syndrome; Premelanosome protein (Pmel17, SILV); RAB27A; RAB27A member RAS oncogene family; RAB38; RAB38 member RAS oncogene family; RPE; Reproduction; Retinal pigmented epithelium; SLC24A5; SLC2A9; SLC45A2; SNAI2; STX17; Snail homolog 2 (Drosophila), (SLUG), SOX10, SRY (sex determining region Y)-box 10; Solute carrier family 2 (facilitated glucose transporter), member 9; Solute carrier family 24, member 5; Solute carrier family 45, member 2, MATP; Syntaxin 17; TRPM1; TYR; Tameness; Transient receptor potential cation channel, subfamily M, member 1 (melastatin-1); Tyrosinase, TYRP1, Tyrosinase-related protein 1; V-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog, tyrosine kinase receptor (c-kit); WS; Waardenburg syndrome (type 1, type 2 combined with Tietz syndrome type 3 Klein-Waardenburg syndrome, type 4 Waardenburg-Shah syndrome); alpha-melanocyte-stimulating hormone; αMSH
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Cor de Cabelo
/
Pleiotropia Genética
/
Mutação
Idioma:
En
Ano de publicação:
2013
Tipo de documento:
Article