(Q58485779)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15889046%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

title

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

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11 January 2020

1

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Françoise Clerget-Darpoux

11 January 2020

15

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11 January 2020

author name string

Roubila Meziani

2

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11 January 2020

Guylene Bertrand

3

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11 January 2020

Benedicte Gérard

4

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11 January 2020

Vincent Descamps

5

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11 January 2020

Alain Archimbaud

6

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11 January 2020

Catherine Picard

7

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11 January 2020

Laurence Ollivaud

8

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11 January 2020

Nicole Basset-Seguin

9

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11 January 2020

Delphine Kerob

10

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11 January 2020

Guy Lanternier

11

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11 January 2020

Celeste Lebbe

12

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11 January 2020

P Saiag

13

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11 January 2020

Beatrice Crickx

14

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11 January 2020

Bernard Grandchamp

16

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11 January 2020

Nadem Soufir

17

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11 January 2020

Melan-Cohort

18

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11 January 2020

publication date

1 August 2005

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European Journal of Human Genetics

11 January 2020

published in

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11 January 2020

volume

13

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11 January 2020

page(s)

913-920

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11 January 2020

issue

8

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https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5201415

11 January 2020

exact match

0 references

cites work

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Germline p16 mutations in familial melanoma

21 January 2018

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

21 January 2018

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

21 January 2018

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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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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A simple salting out procedure for extracting DNA from human nucleated cells

21 January 2018

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Human pigmentation phenotype: a point mutation generates nonfunctional MSH receptor

21 January 2018

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

21 January 2018

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Loss-of-function variants of the human melanocortin-1 receptor gene in melanoma cells define structural determinants of receptor function.

21 January 2018

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The Asp84Glu variant of the melanocortin 1 receptor (MC1R) is associated with melanoma

21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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Complex promoter and coding region beta 2-adrenergic receptor haplotypes alter receptor expression and predict in vivo responsiveness

21 January 2018

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Interactive effects of MC1R and OCA2 on melanoma risk phenotypes

21 January 2018

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21 January 2018

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21 January 2018

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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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

How common is the atypical mole syndrome phenotype in apparently sporadic melanoma?

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7 January 2021

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

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7 January 2021

Val92Met variant of the melanocyte stimulating hormone receptor gene

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7 January 2021

Identifiers

DOI

10.1038/SJ.EJHG.5201415

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15889046%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

1 reference