(Q35829596)

10 August 2017

Genetics of skin color variation in Europeans: genome-wide association studies with functional follow-up (English)

1 reference

genome-wide association study

10 August 2017

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author

Massimo Mangino

14

1 reference

10 August 2017

18

1 reference

10 August 2017

21

André G Uitterlinden

0 references

Oscar Lao

Oscar Lao

6

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Fan Liu

Fan Liu

1

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Anjali K. Henders

Anjali K Henders

13

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Richard A Sturm

Richard A Sturm

17

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Wilfred F J van IJcken

Wilfred F J van IJcken

20

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David L. Duffy

David L Duffy

3

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Nick Martin

Nicholas G Martin

24

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Grant W. Montgomery

Grant W Montgomery

12

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Susan Walsh

8

Susan Walsh

1 reference

10 August 2017

Lakshmi Chaitanya

9

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Albert Hofman

19

Albert Hofman

1 reference

10 August 2017

23

Timothy D Spector

1 reference

10 August 2017

Mijke Visser

2

1 reference

10 August 2017

Pirro G Hysi

4

1 reference

10 August 2017

Leonie C Jacobs

5

1 reference

10 August 2017

Kaiyin Zhong

7

1 reference

10 August 2017

Andreas Wollstein

10

1 reference

10 August 2017

Gu Zhu

11

1 reference

10 August 2017

Daniel Glass

15

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10 August 2017

Veronique Bataille

16

1 reference

10 August 2017

Robert-Jan T S Palstra

22

1 reference

10 August 2017

Tamar E C Nijsten

25

1 reference

10 August 2017

Manfred Kayser

26

1 reference

10 August 2017

12 May 2015

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10 August 2017

1 reference

10 August 2017

134

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10 August 2017

8

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10 August 2017

823-835

1 reference

Creative Commons Attribution 4.0 International

10 August 2017

start time

12 May 2015

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

exact match

https://scigraph.springernature.com/pub.10.1007/s00439-015-1559-0

0 references

cites work

Forensic DNA Phenotyping: Predicting human appearance from crime scene material for investigative purposes

1 reference

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Allele-specific transcriptional regulation of IRF4 in melanocytes is mediated by chromatin looping of the intronic rs12203592 enhancer to the IRF4 promoter

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4495261

Defining the role of common variation in the genomic and biological architecture of adult human height

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4495261

Human skin color is influenced by an intergenic DNA polymorphism regulating transcription of the nearby BNC2 pigmentation gene

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4495261

A molecular basis for classic blond hair color in Europeans

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4495261

UV signaling pathways within the skin

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4495261

A polymorphism in IRF4 affects human pigmentation through a tyrosinase-dependent MITF/TFAP2A pathway

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4495261

Colorful DNA polymorphisms in humans

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4495261

Normal and abnormal skin color

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4495261

ENCODE data in the UCSC Genome Browser: year 5 update

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4495261

Comprehensive candidate gene study highlights UGT1A and BNC2 as new genes determining continuous skin color variation in Europeans

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4495261

Integration of ChIP-seq and machine learning reveals enhancers and a predictive regulatory sequence vocabulary in melanocytes

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4495261

YY1 regulates melanocyte development and function by cooperating with MITF.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4495261

HERC2 rs12913832 modulates human pigmentation by attenuating chromatin-loop formation between a long-range enhancer and the OCA2 promoter

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4495261

Detecting low frequent loss-of-function alleles in genome wide association studies with red hair color as example

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4495261

Identification of an imprinted master trans regulator at the KLF14 locus related to multiple metabolic phenotypes

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4495261

Melanocyte stem cells: a melanocyte reservoir in hair follicles for hair and skin pigmentation

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4495261

Improving human forensics through advances in genetics, genomics and molecular biology

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4495261

The architecture of gene regulatory variation across multiple human tissues: the MuTHER study

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4495261

Essential role of microphthalmia transcription factor for DNA replication, mitosis and genomic stability in melanoma.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4495261

Model-based prediction of human hair color using DNA variants

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4495261

Histone H3K27ac separates active from poised enhancers and predicts developmental state

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4495261

LocusZoom: regional visualization of genome-wide association scan results

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4495261

Glutathione as an oral whitening agent: a randomized, double-blind, placebo-controlled study

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4495261

Digital quantification of human eye color highlights genetic association of three new loci

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4495261

Multiple pigmentation gene polymorphisms account for a substantial proportion of risk of cutaneous malignant melanoma

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4495261

Physiological factors that regulate skin pigmentation

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4495261

Molecular genetics of human pigmentation diversity

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4495261

Deletion of eIF2beta suppresses testicular cancer incidence and causes recessive lethality in agouti-yellow mice

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4495261

Two newly identified genetic determinants of pigmentation in Europeans

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4495261

Common sequence variants on 20q11.22 confer melanoma susceptibility

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4495261

A genome-wide association study identifies novel alleles associated with hair color and skin pigmentation

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4495261

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4495261

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4495261

Family-based association tests for genomewide association scans

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4495261

The melanocyte and the epidermal melanin unit: an expanded concept

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4495261

MITF: master regulator of melanocyte development and melanoma oncogene

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4495261

SLC24A5, a putative cation exchanger, affects pigmentation in zebrafish and humans

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4495261

Evolutionarily conserved elements in vertebrate, insect, worm, and yeast genomes

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4495261

Merlin--rapid analysis of dense genetic maps using sparse gene flow trees

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4495261

Agouti signaling protein inhibits melanogenesis and the response of human melanocytes to alpha-melanotropin

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4495261

A molecular model for the genetic and phenotypic characteristics of the mouse lethal yellow (Ay) mutation

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4495261

Glutathione and human pigmentation

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4495261

The validity and practicality of sun-reactive skin types I through VI.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4495261

The role of sulfhydryl compounds in mammalian melanogenesis: the effect of cysteine and glutathione upon tyrosinase and the intermediates of the pathway

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4495261

The epidermal melanin unit in the pathophysiology of malignant melanoma

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4495261

Red human hair pheomelanin is a potent pro-oxidant mediating UV-independent contributory mechanisms of melanomagenesis.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4495261

The Rotterdam Study: 2014 objectives and design update

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4495261

Eye color and the prediction of complex phenotypes from genotypes.

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4495261

The IFPCS presidential lecture: a chemist's view of melanogenesis

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4495261

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

24 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS00439-015-1559-0

Glutathione depletion increases tyrosinase activity in human melanoma cells

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25963972

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1007/S00439-015-1559-0

1 reference

10 August 2017

1 reference

10 August 2017

1 reference