Published in BMC Evol Biol on February 29, 2008
Signatures of environmental genetic adaptation pinpoint pathogens as the main selective pressure through human evolution. PLoS Genet (2011) 2.44
Direct evidence for positive selection of skin, hair, and eye pigmentation in Europeans during the last 5,000 y. Proc Natl Acad Sci U S A (2014) 1.34
Association of the OCA2 polymorphism His615Arg with melanin content in east Asian populations: further evidence of convergent evolution of skin pigmentation. PLoS Genet (2010) 1.17
Human pigmentation genes under environmental selection. Genome Biol (2012) 1.11
Evidence for positive selection on a number of MicroRNA regulatory interactions during recent human evolution. PLoS Genet (2012) 1.03
Comparison of the Transcriptional Profiles of Melanocytes from Dark and Light Skinned Individuals under Basal Conditions and Following Ultraviolet-B Irradiation. PLoS One (2015) 0.99
Exploring signatures of positive selection in pigmentation candidate genes in populations of East Asian ancestry. BMC Evol Biol (2013) 0.99
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Genome-wide transcriptome analysis of human epidermal melanocytes. Genomics (2014) 0.90
A customized pigmentation SNP array identifies a novel SNP associated with melanoma predisposition in the SLC45A2 gene. PLoS One (2011) 0.88
Comparative transcriptome analysis reveals the genetic basis of skin color variation in common carp. PLoS One (2014) 0.87
Contrasting signals of positive selection in genes involved in human skin-color variation from tests based on SNP scans and resequencing. Investig Genet (2011) 0.83
Re-appraisal of current theories for the development and loss of epidermal pigmentation in hominins and modern humans. J Hum Evol (2013) 0.81
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Adaptation of human skin color in various populations. Hereditas (2017) 0.75
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Generating samples under a Wright-Fisher neutral model of genetic variation. Bioinformatics (2002) 34.50
DnaSP, DNA polymorphism analyses by the coalescent and other methods. Bioinformatics (2003) 32.63
A map of recent positive selection in the human genome. PLoS Biol (2006) 29.19
FatiGO: a web tool for finding significant associations of Gene Ontology terms with groups of genes. Bioinformatics (2004) 26.64
A comparison of bayesian methods for haplotype reconstruction from population genotype data. Am J Hum Genet (2003) 26.59
Detecting recent positive selection in the human genome from haplotype structure. Nature (2002) 22.00
Estimate of the mutation rate per nucleotide in humans. Genetics (2000) 15.08
Calibrating a coalescent simulation of human genome sequence variation. Genome Res (2005) 15.04
Positive natural selection in the human lineage. Science (2006) 12.55
SLC24A5, a putative cation exchanger, affects pigmentation in zebrafish and humans. Science (2005) 12.02
Cis-acting regulatory variation in the human genome. Science (2004) 4.47
How reliable are empirical genomic scans for selective sweeps? Genome Res (2006) 4.14
The evolution of human skin coloration. J Hum Evol (2000) 4.07
The color loci of mice--a genetic century. Pigment Cell Res (2003) 3.47
Cyclic AMP a key messenger in the regulation of skin pigmentation. Pigment Cell Res (2000) 2.98
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A genomewide association study of skin pigmentation in a South Asian population. Am J Hum Genet (2007) 2.58
Revealing the prehistoric settlement of Australia by Y chromosome and mtDNA analysis. Proc Natl Acad Sci U S A (2007) 2.55
Genetic evidence for the convergent evolution of light skin in Europeans and East Asians. Mol Biol Evol (2006) 2.54
msHOT: modifying Hudson's ms simulator to incorporate crossover and gene conversion hotspots. Bioinformatics (2006) 2.45
Evidence for variable selective pressures at MC1R. Am J Hum Genet (2000) 2.43
Ancient and recent positive selection transformed opioid cis-regulation in humans. PLoS Biol (2005) 2.37
Topical drug rescue strategy and skin protection based on the role of Mc1r in UV-induced tanning. Nature (2006) 2.09
The 8818G allele of the agouti signaling protein (ASIP) gene is ancestral and is associated with darker skin color in African Americans. Hum Genet (2005) 1.97
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High polymorphism at the human melanocortin 1 receptor locus. Genetics (1999) 1.94
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A strong signature of balancing selection in the 5' cis-regulatory region of CCR5. Proc Natl Acad Sci U S A (2002) 1.78
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A polymorphism in the agouti signaling protein gene is associated with human pigmentation. Am J Hum Genet (2002) 1.63
Mechanisms of skin tanning in different racial/ethnic groups in response to ultraviolet radiation. J Invest Dermatol (2005) 1.60
Evidence for recent positive selection at the human AIM1 locus in a European population. Mol Biol Evol (2005) 1.60
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A scan for signatures of positive selection in candidate loci for skin pigmentation in humans. Mol Biol Evol (2006) 1.44
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Identifying genes underlying skin pigmentation differences among human populations. Hum Genet (2006) 1.34
Apportionment of global human genetic diversity based on craniometrics and skin color. Am J Phys Anthropol (2002) 1.27
Evidence of the indirect formation of the catecholic intermediate substrate responsible for the autoactivation kinetics of tyrosinase. J Biol Chem (1997) 1.21
Compound tests for the detection of hitchhiking under positive selection. Mol Biol Evol (2007) 1.21
Interaction between the melanocortin-1 receptor and P genes contributes to inter-individual variation in skin pigmentation phenotypes in a Tibetan population. Hum Genet (2001) 1.10
Genetics of pigment cells: lessons from the tyrosinase gene family. Histol Histopathol (2006) 1.08
Cutaneous photobiology. The melanocyte vs. the sun: who will win the final round? Pigment Cell Res (2003) 1.07
A conserved transcriptional enhancer that specifies Tyrp1 expression to melanocytes. Dev Biol (2006) 0.97
Evolution of a pigmentation gene, the melanocortin-1 receptor, in primates. Am J Phys Anthropol (2003) 0.91
Ethnic variation in tyrosinase and TYRP1 expression in photoexposed and photoprotected human skin. Pigment Cell Res (2003) 0.88
Identification of a composite enhancer of the human tyrosinase-related protein 2/DOPAchrome tautomerase gene. Biochim Biophys Acta (2000) 0.81
Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease. Nat Genet (2008) 30.20
Newly identified loci that influence lipid concentrations and risk of coronary artery disease. Nat Genet (2008) 25.83
Common variants at 30 loci contribute to polygenic dyslipidemia. Nat Genet (2008) 20.66
New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk. Nat Genet (2010) 17.89
A susceptibility locus for lung cancer maps to nicotinic acetylcholine receptor subunit genes on 15q25. Nature (2008) 16.10
Genome-wide association study identifies variants at CLU and CR1 associated with Alzheimer's disease. Nat Genet (2009) 14.86
Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk. Nature (2011) 13.25
Genome-wide association study identifies eight loci associated with blood pressure. Nat Genet (2009) 12.44
Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease. Nat Genet (2011) 9.23
Novel Crohn disease locus identified by genome-wide association maps to a gene desert on 5p13.1 and modulates expression of PTGER4. PLoS Genet (2007) 8.63
Genome-wide association study identifies five susceptibility loci for glioma. Nat Genet (2009) 7.62
Lung cancer susceptibility locus at 5p15.33. Nat Genet (2008) 5.99
A QTL influencing F cell production maps to a gene encoding a zinc-finger protein on chromosome 2p15. Nat Genet (2007) 4.61
A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance. Nat Genet (2012) 4.37
Effect of 17q21 variants and smoking exposure in early-onset asthma. N Engl J Med (2008) 3.90
Genome-wide association study identifies three loci associated with melanoma risk. Nat Genet (2009) 3.89
Common variants at five new loci associated with early-onset inflammatory bowel disease. Nat Genet (2009) 3.82
Seven new loci associated with age-related macular degeneration. Nat Genet (2013) 3.81
Induction of foxP3+ regulatory T cells in the periphery of T cell receptor transgenic mice tolerized to transplants. J Immunol (2004) 3.62
A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma. Nature (2011) 3.53
Resequencing of positional candidates identifies low frequency IL23R coding variants protecting against inflammatory bowel disease. Nat Genet (2010) 3.22
Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals. PLoS Genet (2012) 3.21
Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis. Nat Genet (2013) 3.17
Novel breast cancer susceptibility locus at 9q31.2: results of a genome-wide association study. J Natl Cancer Inst (2011) 3.05
SNP and haplotype mapping for genetic analysis in the rat. Nat Genet (2008) 2.96
Genome-wide association study of renal cell carcinoma identifies two susceptibility loci on 2p21 and 11q13.3. Nat Genet (2010) 2.96
Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders. PLoS Genet (2012) 2.65
Common susceptibility alleles are unlikely to contribute as strongly as the FV and ABO loci to VTE risk: results from a GWAS approach. Blood (2009) 2.64
Gene-environment interactions in 7610 women with breast cancer: prospective evidence from the Million Women Study. Lancet (2010) 2.51
Genome-wide association study identifies three new melanoma susceptibility loci. Nat Genet (2011) 2.29
TLR4 polymorphisms, infectious diseases, and evolutionary pressure during migration of modern humans. Proc Natl Acad Sci U S A (2007) 2.28
Planning the human variome project: the Spain report. Hum Mutat (2009) 2.22
Genome-wide association study confirms BST1 and suggests a locus on 12q24 as the risk loci for Parkinson's disease in the European population. Hum Mol Genet (2010) 2.21
Incidence of breast cancer and its subtypes in relation to individual and multiple low-penetrance genetic susceptibility loci. JAMA (2010) 2.20
CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs. Nat Genet (2010) 2.12
Three genome-wide association studies and a linkage analysis identify HERC2 as a human iris color gene. Am J Hum Genet (2008) 2.09
Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly. Nat Genet (2013) 2.06
Genome-wide association study of classical Hodgkin lymphoma and Epstein-Barr virus status-defined subgroups. J Natl Cancer Inst (2012) 1.99
INK4a-deficient human diploid fibroblasts are resistant to RAS-induced senescence. EMBO J (2002) 1.96
Contribution of global rare copy-number variants to the risk of sporadic congenital heart disease. Am J Hum Genet (2012) 1.92
Chromosome 7p11.2 (EGFR) variation influences glioma risk. Hum Mol Genet (2011) 1.83
A genome-wide association search for type 2 diabetes genes in African Americans. PLoS One (2012) 1.72
A genome-wide association study of upper aerodigestive tract cancers conducted within the INHANCE consortium. PLoS Genet (2011) 1.68
Implication of the immune system in Alzheimer's disease: evidence from genome-wide pathway analysis. J Alzheimers Dis (2010) 1.65
Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis. Orphanet J Rare Dis (2011) 1.57
Simultaneous purifying selection on the ancestral MC1R allele and positive selection on the melanoma-risk allele V60L in south Europeans. Mol Biol Evol (2013) 1.48
Mutations of the FHL1 gene cause Emery-Dreifuss muscular dystrophy. Am J Hum Genet (2009) 1.44
A scan for signatures of positive selection in candidate loci for skin pigmentation in humans. Mol Biol Evol (2006) 1.44
Genetics of venous thrombosis: insights from a new genome wide association study. PLoS One (2011) 1.43
Fine mapping of quantitative trait loci affecting female fertility in dairy cattle on BTA03 using a dense single-nucleotide polymorphism map. Genetics (2008) 1.36
Comprehensive linkage and association analyses identify haplotype, near to the TNFSF15 gene, significantly associated with spondyloarthritis. PLoS Genet (2009) 1.36
A genome-wide association study identifies a novel susceptibility locus for renal cell carcinoma on 12p11.23. Hum Mol Genet (2011) 1.34
Genome-wide population-based association study of extremely overweight young adults--the GOYA study. PLoS One (2011) 1.34
Combined sequence-based and genetic mapping analysis of complex traits in outbred rats. Nat Genet (2013) 1.30
Genetic variants of FOXP2 and KIAA0319/TTRAP/THEM2 locus are associated with altered brain activation in distinct language-related regions. J Neurosci (2012) 1.28
Regulatory T cells and dendritic cells in transplantation tolerance: molecular markers and mechanisms. Immunol Rev (2003) 1.26
Multiple apical plasma membrane constituents are associated with susceptibility to meconium ileus in individuals with cystic fibrosis. Nat Genet (2012) 1.26
Functional and genetic evidence that the Mal/TIRAP allele variant 180L has been selected by providing protection against septic shock. Proc Natl Acad Sci U S A (2009) 1.25
Ancient DNA from hunter-gatherer and farmer groups from Northern Spain supports a random dispersion model for the Neolithic expansion into Europe. PLoS One (2012) 1.24
The place of the Basques in the European Y-chromosome diversity landscape. Eur J Hum Genet (2005) 1.24
Genome-wide association study of multiple congenital heart disease phenotypes identifies a susceptibility locus for atrial septal defect at chromosome 4p16. Nat Genet (2013) 1.23
The CALHM1 P86L polymorphism is a genetic modifier of age at onset in Alzheimer's disease: a meta-analysis study. J Alzheimers Dis (2010) 1.19
Genome-wide association study of age-related macular degeneration identifies associated variants in the TNXB-FKBPL-NOTCH4 region of chromosome 6p21.3. Hum Mol Genet (2012) 1.18
A variant in FTO shows association with melanoma risk not due to BMI. Nat Genet (2013) 1.17
Genome wide association study for plasma levels of natural anticoagulant inhibitors and protein C anticoagulant pathway: the MARTHA project. Br J Haematol (2012) 1.16
Serial translocation by means of circular intermediates underlies colour sidedness in cattle. Nature (2012) 1.16
Deciphering the 8q24.21 association for glioma. Hum Mol Genet (2013) 1.08
Alpha-synuclein gene rearrangements in dominantly inherited parkinsonism: frequency, phenotype, and mechanisms. Arch Neurol (2009) 1.07
Genome-wide association study identifies loci on 12q24 and 13q32 associated with tetralogy of Fallot. Hum Mol Genet (2013) 1.04
Systematic analysis of candidate genes for Alzheimer's disease in a French, genome-wide association study. J Alzheimers Dis (2010) 1.03
Genome-wide association study in a Lebanese cohort confirms PHACTR1 as a major determinant of coronary artery stenosis. PLoS One (2012) 1.03
A new locus (SPG46) maps to 9p21.2-q21.12 in a Tunisian family with a complicated autosomal recessive hereditary spastic paraplegia with mental impairment and thin corpus callosum. Neurogenetics (2010) 1.02
Evidence of the association of BIN1 and PICALM with the AD risk in contrasting European populations. Neurobiol Aging (2011) 1.00
Association of the CpG methylation pattern of the proximal insulin gene promoter with type 1 diabetes. PLoS One (2012) 0.99
Interactions of human Myosin Va isoforms, endogenously expressed in human melanocytes, are tightly regulated by the tail domain. J Invest Dermatol (2003) 0.98
A follow-up study of a genome-wide association scan identifies a susceptibility locus for venous thrombosis on chromosome 6p24.1. Am J Hum Genet (2010) 0.98
Development and implementation of a highly-multiplexed SNP array for genetic mapping in maritime pine and comparative mapping with loblolly pine. BMC Genomics (2011) 0.97
Low prevalence of lactase persistence in Neolithic South-West Europe. Eur J Hum Genet (2012) 0.95
The evolutionary history of TLR4 polymorphisms in Europe. J Innate Immun (2011) 0.94
H1 histamine receptor antagonists induce genotoxic and caspase-2-dependent apoptosis in human melanoma cells. Carcinogenesis (2006) 0.94
Antiviral agent cidofovir decreases Epstein-Barr virus (EBV) oncoproteins and enhances the radiosensitivity in EBV-related malignancies. Oncogene (2003) 0.92
Overdominance in the human genome and olfactory receptor activity. Mol Biol Evol (2008) 0.91
Terfenadine-induced apoptosis in human melanoma cells is mediated through Ca2+ homeostasis modulation and tyrosine kinase activity, independently of H1 histamine receptors. Carcinogenesis (2008) 0.91
Terfenadine induces apoptosis and autophagy in melanoma cells through ROS-dependent and -independent mechanisms. Apoptosis (2011) 0.90
Using prior information from the medical literature in GWAS of oral cancer identifies novel susceptibility variant on chromosome 4--the AdAPT method. PLoS One (2012) 0.90
Bivariate association analysis in selected samples: application to a GWAS of two bone mineral density phenotypes in males with high or low BMD. Eur J Hum Genet (2011) 0.89
A customized pigmentation SNP array identifies a novel SNP associated with melanoma predisposition in the SLC45A2 gene. PLoS One (2011) 0.88
Combining gene mapping and phenotype assessment for fast mutation finding in non-consanguineous autosomal recessive retinitis pigmentosa families. Eur J Hum Genet (2011) 0.87
Insights into the "isolation" of the Basques: mtDNA lineages from the historical site of Aldaieta (6th-7th centuries AD). Am J Phys Anthropol (2006) 0.87
Maternal smoking during pregnancy, genetic polymorphisms of metabolic enzymes, and childhood acute leukemia: the ESCALE study (SFCE). Cancer Causes Control (2011) 0.87
Caution in interpreting results from imputation analysis when linkage disequilibrium extends over a large distance: a case study on venous thrombosis. PLoS One (2012) 0.85