(Q40062598)

17 September 2017

title

Variants of the MATP/SLC45A2 gene are protective for melanoma in the French population (English)

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17 September 2017

4

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Philippe Dieudé

5

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Philippe Aegerter

object named as

Philippe Aegerter

9

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Nicolas Dupin

object named as

Nicolas Dupin

7

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author name string

Mickaël Guedj

1

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17 September 2017

Agnès Bourillon

2

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17 September 2017

Christophe Combadières

3

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17 September 2017

Vincent Descamps

6

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17 September 2017

Pierre Wolkenstein

8

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17 September 2017

Céleste Lebbe

10

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17 September 2017

Nicole Basset-Seguin

11

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17 September 2017

Bernard Prum

12

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17 September 2017

Philippe Saiag

13

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17 September 2017

Bernard Grandchamp

14

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17 September 2017

Nadem Soufir

15

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17 September 2017

MelanCohort Investigators

16

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17 September 2017

publication date

1 September 2008

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17 September 2017

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17 September 2017

volume

29

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17 September 2017

issue

9

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17 September 2017

page(s)

1154-1160

1 reference

Melanocortin-1 receptor variant R151C modifies melanoma risk in Dutch families with melanoma.

17 September 2017

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20823

P-locus is a target for the melanogenic effects of MC-1R signaling: a possible control point for facultative pigmentation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20823

7 January 2021

MC1R genotype modifies risk of melanoma in families segregating CDKN2A mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20823

7 January 2021

Melanocortin-1 receptor (MC1R) gene variants and dysplastic nevi modify penetrance of CDKN2A mutations in French melanoma-prone pedigrees.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20823

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

https://api.crossref.org/works/10.1002%2FHUMU.20823

7 January 2021

MC1R common variants, CDKN2A and their association with melanoma and breast cancer risk

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20823

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20823

7 January 2021

Interactive effects of MC1R and OCA2 on melanoma risk phenotypes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20823

7 January 2021

A three-single-nucleotide polymorphism haplotype in intron 1 of OCA2 explains most human eye-color variation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20823

7 January 2021

Blue eye color in humans may be caused by a perfectly associated founder mutation in a regulatory element located within the HERC2 gene inhibiting OCA2 expression

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20823

7 January 2021

The Validity and Practicality of Sun-Reactive Skin Types I Through VI

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20823

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20823

7 January 2021

Human pigmentation phenotype: a point mutation generates nonfunctional MSH receptor

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20823

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20823

7 January 2021

The mouse pink-eyed dilution gene: association with human Prader-Willi and Angelman syndromes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20823

7 January 2021

Comprehensive evaluation of allele frequency differences of MC1R variants across populations.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20823

7 January 2021

Localization of a novel melanoma susceptibility locus to 1p22

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20823

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20823

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20823

7 January 2021

The genetics of hereditary melanoma and nevi. 1998 update

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20823

7 January 2021

Mutations in SLC45A2 cause plumage color variation in chicken and Japanese quail

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20823

7 January 2021

Melanocortin 1 receptor variants, pigmentation, and skin cancer susceptibility.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20823

7 January 2021

Functional variation of MC1R alleles from red-haired individuals.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20823

7 January 2021

Biogenesis of pigment granules: a sensitive way to regulate melanocyte function

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20823

7 January 2021

Effects of genic substitution at the pink-eyed dilution locus on the proliferation and differentiation of mouse epidermal melanocytes in vivo and in vitro

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20823

7 January 2021

Germline p16 mutations in familial melanoma

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20823

7 January 2021

Allele variations in the OCA2 gene (pink-eyed-dilution locus) are associated with genetic susceptibility to melanoma

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20823

7 January 2021

Thr40 and Met122 are new partial loss-of-function natural mutations of the human melanocortin 1 receptor.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20823

7 January 2021

The Pro162 variant is a loss-of-function mutation of the human melanocortin 1 receptor gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20823

7 January 2021

Mapping of a novel ocular and cutaneous malignant melanoma susceptibility locus to chromosome 9q21.32

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20823

7 January 2021

Analysis of the p16 gene (CDKN2) as a candidate for the chromosome 9p melanoma susceptibility locus

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20823

7 January 2021

Three genome-wide association studies and a linkage analysis identify HERC2 as a human iris color gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20823

7 January 2021

Melanocortin 1 Receptor (MC1R) Gene Variants are Associated with an Increased Risk for Cutaneous Melanoma Which is Largely Independent of Skin Type and Hair Color

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20823

7 January 2021

The Seiji memorial lecture: the melanosome: an ideal model to study cellular differentiation.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20823

7 January 2021

The pinkeyed-dilution protein and the eumelanin/pheomelanin switch: in support of a unifying hypothesis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20823

7 January 2021

MC1R, ASIP, and DNA repair in sporadic and familial melanoma in a Mediterranean population

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20823

7 January 2021

Mutations of the P gene in oculocutaneous albinism, ocular albinism, and Prader-Willi syndrome plus albinism

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20823

7 January 2021

Organization and sequence of the human P gene and identification of a new family of transport proteins

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20823

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20823

7 January 2021

Melanocortin 1 receptor (MC1R) gene variants may increase the risk of melanoma in France independently of clinical risk factors and UV exposure

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20823

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20823

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20823

7 January 2021

Genetic evidence for the convergent evolution of light skin in Europeans and East Asians

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20823

7 January 2021

The pink-eyed dilution locus controls the biogenesis of melanosomes and levels of melanosomal proteins in the eye

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20823

7 January 2021

Chemical characterization of hair melanins in various coat-color mutants of mice

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20823

7 January 2021

Melanocortin-1 receptor polymorphisms and risk of melanoma: is the association explained solely by pigmentation phenotype?

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20823

7 January 2021

The genetics of sun sensitivity in humans

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20823

7 January 2021

A gene for the mouse pink-eyed dilution locus and for human type II oculocutaneous albinism

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20823

7 January 2021

Pharmacological characterization of loss of function mutations of the human melanocortin 1 receptor that are associated with red hair.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20823

7 January 2021

Melanosomal defects in melanocytes from mice lacking expression of the pink-eyed dilution gene: correction by culture in the presence of excess tyrosine

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20823

7 January 2021

Loss of function mutations of the human melanocortin 1 receptor are common and are associated with red hair

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20823

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20823

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20823

7 January 2021

Pink-eyed dilution protein modulates arsenic sensitivity and intracellular glutathione metabolism.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20823

7 January 2021

Melanocortin receptor-1 gene polymorphisms and the risk of cutaneous melanoma in a low-risk southern European population.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20823

7 January 2021

The role of melanocortin-1 receptor polymorphism in skin cancer risk phenotypes.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20823

7 January 2021

A single SNP in an evolutionary conserved region within intron 86 of the HERC2 gene determines human blue-brown eye color

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20823

7 January 2021

Levels of tyrosinase and its mRNA in coat-color mutants of C57BL/10J congenic mice: effects of genic substitution at the agouti, brown, albino, dilute, and pink-eyed dilution loci

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20823

7 January 2021

The etiology of oculocutaneous albinism (OCA) type II: the pink protein modulates the processing and transport of tyrosinase

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20823

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20823

7 January 2021

Distribution of the F374 Allele of the SLC45A2 (MATP) Gene and Founder-Haplotype Analysis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20823

7 January 2021

Germline mutations in the p16INK4a binding domain of CDK4 in familial melanoma

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20823

7 January 2021

Identifiers

DOI

10.1002/HUMU.20823

1 reference

17 September 2017

1 reference