Associated Papers
Breed Distribution and Allele Frequencies of Base Coat Color, Dilution, and White Patterning Variants across 28 Horse Breeds.
Avila F et al.
Genes, 2022
36140807 (PubMed )
Supplement: genes-13-01641-s001.zip › genes-1878839-supplementary.xlsx › Table_S2
Frameshift Variant in MFSD12 Explains the Mushroom Coat Color Dilution in Shetland Ponies.
Tanaka J et al.
Genes, 2019
Explicit evidence for a missense mutation in exon 4 of SLC45A2 gene causing the pearl coat dilution in horses.
Sevane N et al.
Animal Genetics, 2019
A candidate gene approach identifies variants in SLC45A2 that explain dilute phenotypes, pearl and sunshine, in compound heterozygote horses.
Holl HM et al.
Animal Genetics, 2019
A single base deletion in the SLC45A2 gene in a Bullmastiff with oculocutaneous albinism.
Caduff M et al.
Animal Genetics, 2017
A Japanese Family With Autosomal Dominant Oculocutaneous Albinism Type 4.
Oki R et al.
Investigative Ophthalmology & Visual Science, 2017
Investigating polymorphisms in membrane-associated transporter protein SLC45A2, using sucrose transporters as a model.
Reinders A et al.
Molecular Medicine Reports, 2015
Membrane-Associated Transporter Protein (MATP) Regulates Melanosomal pH and Influences Tyrosinase Activity.
Bin BH et al.
Plos One, 2015
Copy number expansion of the STX17 duplication in melanoma tissue from Grey horses.
Sundström E et al.
Bmc Genomics, 2012
Technical note: a novel method for routine genotyping of horse coat color gene polymorphisms.
Royo LJ et al.
Journal of Animal Science, 2008
Promoter polymorphisms in the MATP (SLC45A2) gene are associated with normal human skin color variation.
Graf J et al.
Human Mutation, 2007
Mutations in SLC45A2 cause plumage color variation in chicken and Japanese quail.
Gunnarsson U et al.
Genetics, 2007
Oculocutaneous albinism type 4: six novel mutations in the membrane-associated transporter protein gene and their phenotypes.
Inagaki K et al.
Pigment Cell Research, 2006
Single nucleotide polymorphisms in the MATP gene are associated with normal human pigmentation variation.
Graf J et al.
Human Mutation, 2005
Identification of Aim-1 as the underwhite mouse mutant and its transcriptional regulation by MITF.
Du J et al.
The Journal of Biological Chemistry, 2002
Mutations in the human orthologue of the mouse underwhite gene (uw) underlie a new form of oculocutaneous albinism, OCA4.
Newton JM et al.
American Journal of Human Genetics, 2001
Select a paper to view details