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

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

(2015) Mijke Visser et al.   HUMAN MOLECULAR GENETICS

UV Signaling Pathways within the Skin

(2014) Hongxiang Chen et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

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

(2014) Andrew R Wood et al.   NATURE GENETICS

Normal and abnormal skin color

(2013) J.P. Ortonne   ANNALES DE DERMATOLOGIE ET DE VENEREOLOGIE

A Polymorphism in IRF4 Affects Human Pigmentation through a Tyrosinase-Dependent MITF/TFAP2A Pathway

(2013) Christian Praetorius et al.   CELL

The Rotterdam Study: 2014 objectives and design update

(2013) Albert Hofman et al.   EUROPEAN JOURNAL OF EPIDEMIOLOGY

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

(2013) Lucia Panzella et al.   Pigment Cell & Melanoma Research

Colorful DNA polymorphisms in humans

(2013) Fan Liu et al.   SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY

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

(2012) D. U. Gorkin et al.   GENOME RESEARCH

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

(2012) M. Visser et al.   GENOME RESEARCH

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

(2012) Leonie C. Jacobs et al.   HUMAN GENETICS

ENCODE Data in the UCSC Genome Browser: year 5 update

(2012) Kate R. Rosenbloom et al.   NUCLEIC ACIDS RESEARCH

YY1 Regulates Melanocyte Development and Function by Cooperating with MITF

(2012) Juying Li et al.   PLoS Genetics

Model-based prediction of human hair color using DNA variants

(2011) Wojciech Branicki et al.   HUMAN GENETICS

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

(2011) Kerrin S Small et al.   NATURE GENETICS

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

(2011) Manfred Kayser et al.   NATURE REVIEWS GENETICS

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

(2011) T Strub et al.   ONCOGENE

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

(2011) Emi K. Nishimura   Pigment Cell & Melanoma Research

Detecting Low Frequent Loss-of-Function Alleles in Genome Wide Association Studies with Red Hair Color as Example

(2011) Fan Liu et al.   PLoS One

The Architecture of Gene Regulatory Variation across Multiple Human Tissues: The MuTHER Study

(2011) Alexandra C. Nica et al.   PLoS Genetics

LocusZoom: regional visualization of genome-wide association scan results

(2010) R. J. Pruim et al.   BIOINFORMATICS

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

(2010) Nutthavuth Arjinpathana et al.   JOURNAL OF DERMATOLOGICAL TREATMENT

Histone H3K27ac separates active from poised enhancers and predicts developmental state

(2010) M. P. Creyghton et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Digital Quantification of Human Eye Color Highlights Genetic Association of Three New Loci

(2010) Fan Liu et al.   PLoS Genetics

Physiological factors that regulate skin pigmentation

(2009) Yuji Yamaguchi et al.   BIOFACTORS

Eye color and the prediction of complex phenotypes from genotypes

(2009) Fan Liu et al.   CURRENT BIOLOGY

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

(2009) Jason D. Heaney et al.   HUMAN MOLECULAR GENETICS

Molecular genetics of human pigmentation diversity

(2009) R. A. Sturm   HUMAN MOLECULAR GENETICS

Multiple Pigmentation Gene Polymorphisms Account for a Substantial Proportion of Risk of Cutaneous Malignant Melanoma

(2009) David L. Duffy et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

A Single SNP in an Evolutionary Conserved Region within Intron 86 of the HERC2 Gene Determines Human Blue-Brown Eye Color

(2008) Richard A. Sturm et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

(2008) Hans Eiberg et al.   HUMAN GENETICS

Common sequence variants on 20q11.22 confer melanoma susceptibility

(2008) Kevin M Brown et al.   NATURE GENETICS

Two newly identified genetic determinants of pigmentation in Europeans

(2008) Patrick Sulem et al.   NATURE GENETICS

A Genome-Wide Association Study Identifies Novel Alleles Associated with Hair Color and Skin Pigmentation

(2008) Jiali Han et al.   PLoS Genetics