Melanocortin 1 receptor variants: functional role and pigmentary associations (Q37900332)

25 August 2017

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title

Melanocortin 1 receptor variants: functional role and pigmentary associations (English)

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25 August 2017

Clio Dessinioti

1

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25 August 2017

Christina Antoniou

series ordinal

2

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25 August 2017

Andreas Katsambas

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3

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25 August 2017

Alexander J Stratigos

series ordinal

4

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25 August 2017

17 August 2011

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Photochemistry and Photobiology

25 August 2017

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25 August 2017

87

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25 August 2017

978-987

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25 August 2017

5

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Epidemiologic risk factors of basal cell carcinoma development and age at onset in a Southern European population from Greece

25 August 2017

1 reference

https://api.crossref.org/works/10.1111%2FJ.1751-1097.2011.00970.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1751-1097.2011.00970.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1751-1097.2011.00970.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1751-1097.2011.00970.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1751-1097.2011.00970.X

A golden age of human pigmentation genetics

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1751-1097.2011.00970.X

The melanocortin 1 receptor (MC1R): more than just red hair

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1751-1097.2011.00970.X

The genetics of sun sensitivity in humans

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1751-1097.2011.00970.X

Basal cell carcinoma: what's new under the sun.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1751-1097.2011.00970.X

Genome-wide association studies of pigmentation and skin cancer: a review and meta-analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1751-1097.2011.00970.X

Molecular genetics of human pigmentation diversity

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1751-1097.2011.00970.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1751-1097.2011.00970.X

Melanocortin-1 receptor genotype is a risk factor for basal and squamous cell carcinoma

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1751-1097.2011.00970.X

Identification and functional analysis of novel variants of the human melanocortin 1 receptor found in melanoma patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1751-1097.2011.00970.X

Melanocortin-1 receptor gene variants determine the risk of nonmelanoma skin cancer independently of fair skin and red hair

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1751-1097.2011.00970.X

Increasing our understanding of pigmentary disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1751-1097.2011.00970.X

21 January 2018

The melanocortin system

1 reference

https://api.crossref.org/works/10.1111%2FJ.1751-1097.2011.00970.X

A review of genetic disorders of hypopigmentation: lessons learned from the biology of melanocytes

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1751-1097.2011.00970.X

Molecular cloning and expression of the human melanocyte stimulating hormone receptor cDNA.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1751-1097.2011.00970.X

The cloning of a family of genes that encode the melanocortin receptors

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1751-1097.2011.00970.X

Worldwide polymorphism at the MC1R locus and normal pigmentation variation in humans

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1751-1097.2011.00970.X

Regulation of melanogenesis--controversies and new concepts

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1751-1097.2011.00970.X

Melanocortin receptor ligands: new horizons for skin biology and clinical dermatology.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1751-1097.2011.00970.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1751-1097.2011.00970.X

Modeling of the three-dimensional structure of the human melanocortin 1 receptor, using an automated method and docking of a rigid cyclic melanocyte-stimulating hormone core peptide.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1751-1097.2011.00970.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1751-1097.2011.00970.X

Human pigmentation genes: identification, structure and consequences of polymorphic variation

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1751-1097.2011.00970.X

Dimerization of the human melanocortin 1 receptor: functional consequences and dominant-negative effects.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1751-1097.2011.00970.X

Altered cell surface expression of human MC1R variant receptor alleles associated with red hair and skin cancer risk

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1751-1097.2011.00970.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1751-1097.2011.00970.X

Regulation of human melanocortin 1 receptor signaling and trafficking by Thr-308 and Ser-316 and its alteration in variant alleles associated with red hair and skin cancer

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1751-1097.2011.00970.X

Human melanocytes expressing MC1R variant alleles show impaired activation of multiple signaling pathways.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1751-1097.2011.00970.X

Melanocortin 1 receptor variants in an Irish population

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1751-1097.2011.00970.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1751-1097.2011.00970.X

MC1R variants, melanoma and red hair color phenotype: a meta-analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1751-1097.2011.00970.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1751-1097.2011.00970.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1751-1097.2011.00970.X

Interactive effects of MC1R and OCA2 on melanoma risk phenotypes

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1751-1097.2011.00970.X

Identification of four novel melanocortin 1 receptor (MC1R) gene variants in a Mediterranean population.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1751-1097.2011.00970.X

Quality control in the endoplasmic reticulum

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1751-1097.2011.00970.X

Functional variation of MC1R alleles from red-haired individuals.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1751-1097.2011.00970.X

Receptor function, dominant negative activity and phenotype correlations for MC1R variant alleles

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1751-1097.2011.00970.X

Pigmentation phenotypes of variant extension locus alleles result from point mutations that alter MSH receptor function.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1751-1097.2011.00970.X

Melanocortin 1 receptor genotype: an important determinant of the damage response of melanocytes to ultraviolet radiation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1751-1097.2011.00970.X

Vexed by red-headed conundrums.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1751-1097.2011.00970.X

Protection against UVR involves MC1R-mediated non-pigmentary and pigmentary mechanisms in vivo.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1751-1097.2011.00970.X

Melanin content and MC1R function independently affect UVR-induced DNA damage in cultured human melanocytes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1751-1097.2011.00970.X

Melanocortin 1 receptor variants and skin cancer risk

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1751-1097.2011.00970.X

Genetics of Hair and Skin Color

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1751-1097.2011.00970.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1751-1097.2011.00970.X

Quantitative measures of the effect of the melanocortin 1 receptor on human pigmentary status.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1751-1097.2011.00970.X

Characterization of the promoter region of the human melanocortin-1 receptor (MC1R) gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1751-1097.2011.00970.X

The melanocortin-1-receptor gene is the major freckle gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1751-1097.2011.00970.X

Effect of Val92Met and Arg163Gln variants of the MC1R gene on freckles and solar lentigines in Japanese.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1751-1097.2011.00970.X

Genetic determinants of hair, eye and skin pigmentation in Europeans

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1751-1097.2011.00970.X

Evidence for variable selective pressures at MC1R

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1751-1097.2011.00970.X

MC1R gene polymorphism affects skin color and phenotypic features related to sun sensitivity in a population of French adult women.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1751-1097.2011.00970.X

SLC45A2: a novel malignant melanoma-associated gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1751-1097.2011.00970.X

Melanocortin-1-receptor gene and sun sensitivity in individuals without red hair

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1751-1097.2011.00970.X

Functional MC1R-Gene Variants Are Associated with Increased Risk for Severe Photoaging of Facial Skin

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1751-1097.2011.00970.X

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

1 reference

https://api.crossref.org/works/10.1111%2FJ.1751-1097.2011.00970.X

10.1111/J.1751-1097.2011.00970.X

21 January 2018

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DOI

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25 August 2017

1 reference