Associated Papers
Exploring GBA1 gene in Parkinson's disease: Prevalence and variant spectrum from Asia minor.
Koç Yekedüz M et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2025
Association analysis of melanophilin (MLPH) gene expression and polymorphism with plumage color in quail.
Yuan Z et al.
Archives Animal Breeding, 2023
Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.
Cong PK et al.
Nature Communications, 2022
Identification of a Novel MLPH Missense Mutation in a Chinese Griscelli Syndrome 3 Patient.
Huang Q et al.
Frontiers in Medicine, 2022
Griscelli syndrome type 3 in Ethiopian sisters resulting from a homozygous missense mutation in MLPH.
Dagnewu KY et al.
International Journal of Dermatology, 2020
[Griscelli syndrome type 3: A new case].
Kassem Youssef H et al.
Annales De Dermatologie Et De Venereologie, 2018
Genetic 3'UTR variation is associated with human pigmentation characteristics and sensitivity to sunlight.
Hernando B et al.
Experimental Dermatology, 2017
Interactions of allele E of the MC1R gene with FM and mutations in the MLPH gene cause the five-gray phenotype in the Anyi tile-like gray chicken.
Xu JG et al.
Genetics and Molecular Research : Gmr, 2016
New insights into the melanophilin (MLPH) gene controlling coat color phenotypes in American mink.
Cirera S et al.
Gene, 2013
Two-exon skipping within MLPH is associated with coat color dilution in rabbits.
Lehner S et al.
Plos One, 2013
Griscelli syndrome types 1 and 3: analysis of four new cases and long-term evaluation of previously diagnosed patients.
Cağdaş D et al.
European Journal of Pediatrics, 2012
Cellular and clinical report of new Griscelli syndrome type III cases.
Westbroek W et al.
Pigment Cell & Melanoma Research, 2012
Griscelli syndrome: a model system to study vesicular trafficking.
Van Gele M et al.
Pigment Cell & Melanoma Research, 2009
A single point-mutation within the melanophilin gene causes the lavender plumage colour dilution phenotype in the chicken.
Vaez M et al.
Bmc Genetics, 2008
Griscelli syndrome restricted to hypopigmentation results from a melanophilin defect (GS3) or a MYO5A F-exon deletion (GS1).
Ménasché G et al.
The Journal of Clinical Investigation, 2003
Genetics of colouration in birds.
Roulin A et al.
Seminars in Cell & Developmental Biology, 0
Griscelli Syndrome Type 3: Two New Cases and Review of the Literature.
Nouriel A et al.
Pediatric Dermatology, 0