Promoter polymorphisms in the MATP (SLC45A2) gene are associated with normal human skin color variation (Q28292797)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17358008 AND SRC:MED&resulttype=core&format=json

27 December 2019

title

Promoter polymorphisms in the MATP (SLC45A2) gene are associated with normal human skin color variation (English)

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27 December 2019

2

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27 December 2019

author name string

Justin Graf

series ordinal

1

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17358008 AND SRC:MED&resulttype=core&format=json

27 December 2019

Ian Hughes

series ordinal

3

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17358008 AND SRC:MED&resulttype=core&format=json

27 December 2019

Angela van Daal

series ordinal

4

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27 December 2019

language of work or name

English

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publication date

1 July 2007

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27 December 2019

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27 December 2019

volume

28

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27 December 2019

issue

7

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27 December 2019

page(s)

710-717

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The 8818G allele of the agouti signaling protein (ASIP) gene is ancestral and is associated with darker skin color in African Americans.

27 December 2019

cites work

1 reference

7 January 2021

Characterization of melanocyte stimulating hormone receptor variant alleles in twins with red hair

1 reference

7 January 2021

Tyrosinase processing and intracellular trafficking is disrupted in mouse primary melanocytes carrying the underwhite (uw) mutation. A model for oculocutaneous albinism (OCA) type 4.

1 reference

7 January 2021

Linkage disequilibrium analysis identifies an FGFR1 haplotype-tag SNP associated with normal variation in craniofacial shape

1 reference

7 January 2021

LDA—a java-based linkage disequilibrium analyzer

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7 January 2021

Identification of Aim-1 as the underwhite mouse mutant and its transcriptional regulation by MITF

1 reference

7 January 2021

Pleiotropic effects of the melanocortin 1 receptor (MC1R) gene on human pigmentation

1 reference

7 January 2021

Mutations in the gene encoding B, a novel transporter protein, reduce melanin content in medaka

1 reference

7 January 2021

Single nucleotide polymorphisms in the MATP gene are associated with normal human pigmentation variation

1 reference

7 January 2021

Oculocutaneous albinism type 4 is one of the most common types of albinism in Japan

1 reference

7 January 2021

Oculocutaneous albinism type 4: six novel mutations in the membrane-associated transporter protein gene and their phenotypes

1 reference

7 January 2021

A polymorphism in the agouti signaling protein gene is associated with human pigmentation

1 reference

7 January 2021

A mutation in the MATP gene causes the cream coat colour in the horse

1 reference

7 January 2021

Distinctive distribution of AIM1 polymorphism among major human populations with different skin color

1 reference

7 January 2021

Mutations in the human orthologue of the mouse underwhite gene (uw) underlie a new form of oculocutaneous albinism, OCA4

1 reference

7 January 2021

Mutations in the MATP gene in five German patients affected by oculocutaneous albinism type 4

1 reference

7 January 2021

Evidence for recent positive selection at the human AIM1 locus in a European population.

1 reference

7 January 2021

Population differences of two coding SNPs in pigmentation-related genes SLC24A5 and SLC45A2

1 reference

7 January 2021

Genetic association and cellular function of MC1R variant alleles in human pigmentation

1 reference

7 January 2021

A Korean case of oculocutaneous albinism type IV caused by a D157N mutation in the MATP gene

1 reference

7 January 2021

A new allelic series for the underwhite gene on mouse chromosome 15.

1 reference

7 January 2021

Variants of the melanocyte-stimulating hormone receptor gene are associated with red hair and fair skin in humans

1 reference

7 January 2021

A polymorphism study of the human Agouti gene and its association with MC1R.

1 reference

7 January 2021

A polymorphism in the agouti signalling protein (ASIP) is associated with decreased levels of mRNA.

1 reference

7 January 2021

MATP polymorphisms in Germans and Japanese: the L374F mutation as a population marker for Caucasoids

1 reference

7 January 2021

Identifiers

DOI

10.1002/HUMU.20504

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17358008 AND SRC:MED&resulttype=core&format=json

release_gy4tfrf6gbcutfrqgomdkupreu

27 December 2019

Fatcat ID

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Fatcat

https://api.fatcat.wiki/v0/release/gy4tfrf6gbcutfrqgomdkupreu

24 November 2022

mapped directly with Wikidata item

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