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One or more keywords matched the following properties of Di Rienzo, Anna
keywords Human functional evolution
keywords Human evolution
overview Research in our labs focuses on the genetic architecture of traits and diseases that vary across human populations and on understanding the role of natural selection in shaping this architecture. To this end, we use empirical population genetics and functional genomics approaches coupled with computational analyses of genome-scale data.
One or more keywords matched the following items that are connected to Di Rienzo, Anna
Item TypeName
Concept Chromosomes, Human, Pair 2
Concept Chromosomes, Human, Pair 1
Concept Chromosomes, Human, Pair 14
Concept Chromosomes, Human, Pair 4
Concept Humans
Concept Human Genome Project
Concept Genome, Human
Concept Chromosomes, Human, Pair 16
Concept Chromosomes, Human, Y
Academic Article Studies of populations and genetic diseases: mixing it up. Inherited disorders and their genes in different European populations, Acquafredda di Maratea, Italy, 6-11 February 1998.
Academic Article Genome-wide search for asthma susceptibility loci in a founder population. The Collaborative Study on the Genetics of Asthma.
Academic Article Phenotype-genotype correlation of in vitro SN-38 (active metabolite of irinotecan) and bilirubin glucuronidation in human liver tissue with UGT1A1 promoter polymorphism.
Academic Article Adjusting the focus on human variation.
Academic Article Detection of the signature of natural selection in humans: evidence from the Duffy blood group locus.
Academic Article Gene conversion and different population histories may explain the contrast between polymorphism and linkage disequilibrium levels.
Academic Article Variability at the uridine diphosphate glucuronosyltransferase 1A1 promoter in human populations and primates.
Academic Article Complex signatures of natural selection at the Duffy blood group locus.
Academic Article Microsatellite mutations and inferences about human demography.
Academic Article A population genetics study of single nucleotide polymorphisms in the interleukin 4 receptor alpha (IL4RA) gene.
Academic Article Geographic and haplotype structure of candidate type 2 diabetes susceptibility variants at the calpain-10 locus.
Academic Article Linkage disequilibrium and age estimates of a deletion polymorphism (1597DeltaC) in HLA-G suggest non-neutral evolution.
Academic Article Inferences about human demography based on multilocus analyses of noncoding sequences.
Academic Article Balancing claims for balancing selection.
Academic Article CYP3A variation and the evolution of salt-sensitivity variants.
Academic Article Population genetics of CAPN10 and GPR35: implications for the evolution of type 2 diabetes variants.
Academic Article Haplotype structure of the UDP-glucuronosyltransferase 1A1 promoter in different ethnic groups.
Academic Article Haplotype structure and phylogenetic shadowing of a hypervariable region in the CAPN10 gene.
Academic Article An evolutionary framework for common diseases: the ancestral-susceptibility model.
Academic Article Interrogating multiple aspects of variation in a full resequencing data set to infer human population size changes.
Academic Article Prevalence of common disease-associated variants in Asian Indians.
Academic Article Combining sperm typing and linkage disequilibrium analyses reveals differences in selective pressures or recombination rates across human populations.
Academic Article Genetic polymorphisms in uridine diphospho-glucuronosyltransferase 1A1 and breast cancer risk in Africans.
Academic Article Comparative linkage-disequilibrium analysis of the beta-globin hotspot in primates.
Academic Article Prediction of CYP3A4 enzyme activity using haplotype tag SNPs in African Americans.
Academic Article UGT2B7 is not expressed in normal breast.
Academic Article Functional constraints on the constitutive androstane receptor inferred from human sequence variation and cross-species comparisons.
Academic Article Sequence diversity and haplotype structure at the human CYP3A cluster.
Academic Article Evolutionary adaptations to dietary changes.
Academic Article Comparative genomics analysis of human sequence variation in the UGT1A gene cluster.
Academic Article Adaptations to new environments in humans: the role of subtle allele frequency shifts.
Academic Article Allelic imbalance (AI) identifies novel tissue-specific cis-regulatory variation for human UGT2B15.
Academic Article Population genetic analysis of the uncoupling proteins supports a role for UCP3 in human cold resistance.
Academic Article Adaptations to climate-mediated selective pressures in humans.
Academic Article Adaptations to climate in candidate genes for common metabolic disorders.
Academic Article Adaptive variation regulates the expression of the human SGK1 gene in response to stress.
Academic Article SNP discovery, expression and cis-regulatory variation in the UGT2B genes.
Academic Article Spatial patterns of variation due to natural selection in humans.
Academic Article Interactions between glucocorticoid treatment and cis-regulatory polymorphisms contribute to cellular response phenotypes.
Academic Article Characterization of a novel splicing variant in the RAPTOR gene.
Academic Article Colloquium paper: human adaptations to diet, subsistence, and ecoregion are due to subtle shifts in allele frequency.
Academic Article Differential allelic expression of c.1568C > A at UGT2B15 is due to variation in a novel cis-regulatory element in the 3'UTR.
Academic Article Mapping gene-environment interactions at regulatory polymorphisms: insights into mechanisms of phenotypic variation.
Academic Article Adaptation - not by sweeps alone.
Academic Article Allele-specific down-regulation of RPTOR expression induced by retinoids contributes to climate adaptations.
Academic Article A reduced representation approach to population genetic analyses and applications to human evolution.
Academic Article Sequence diversity at the proximal 14q32.1 SERPIN subcluster: evidence for natural selection favoring the pseudogenization of SERPINA2.
Academic Article A common haplotype of the glucokinase gene alters fasting glucose and birth weight: association in six studies and population-genetics analyses.
Academic Article Reconstructing Native American population history.
Academic Article rs2981582 is associated with FGFR2 expression in normal breast.
Academic Article A signature of balancing selection in the region upstream to the human UGT2B4 gene and implications for breast cancer risk.
Academic Article Population genetics models of common diseases.
Academic Article Using environmental correlations to identify loci underlying local adaptation.
Academic Article Natural selection and functional genetic variation in the p53 pathway.
Academic Article Lack of association between common UGT2B nonsynonymous single-nucleotide polymorphisms and breast cancer in populations of African ancestry.
Academic Article Heterogeneity of microsatellite mutations within and between loci, and implications for human demographic histories.
Academic Article Prdm9, a major determinant of meiotic recombination hotspots, is not functional in dogs and their wild relatives, wolves and coyotes.
Academic Article Genetic, functional and molecular features of glucocorticoid receptor binding.
Academic Article Inter-ethnic differences in lymphocyte sensitivity to glucocorticoids reflect variation in transcriptional response.
Academic Article The genetic architecture of adaptations to high altitude in Ethiopia.
Academic Article Incomplete lineage sorting is common in extant gibbon genera.
Academic Article Allelic imbalance assays to quantify allele-specific gene expression and transcription factor binding.
Academic Article Mutational processes of simple-sequence repeat loci in human populations.
Academic Article Ethiopian National Hepatitis B Study.
Academic Article Adaptations to local environments in modern human populations.
Academic Article Toward a more accurate time scale for the human mitochondrial DNA tree.
Academic Article In vitro sensitivity assays and clinical response to glucocorticoids in patients with inflammatory bowel disease.
Academic Article mtDNA analysis of Nile River Valley populations: A genetic corridor or a barrier to migration?
Academic Article Association of Hb H disease with sickle-trait.
Academic Article Combining genetic and nongenetic biomarkers to realize the promise of pharmacogenomics for inflammatory diseases.
Academic Article Genome mapping by arbitrary amplification of yeast artificial chromosomes.
Academic Article Plasma hepcidin of Ethiopian highlanders with steady-state hypoxia.
Academic Article Genetic mapping with multiple levels of phenotypic information reveals determinants of lymphocyte glucocorticoid sensitivity.
Academic Article Comparison of cellular and transcriptional responses to 1,25-dihydroxyvitamin d3 and glucocorticoids in peripheral blood mononuclear cells.
Academic Article Tracing European founder lineages in the Near Eastern mtDNA pool.
Academic Article Molecular characterization of beta-thalassemia mutations in Egypt.
Academic Article Discovery and functional assessment of gene variants in the vascular endothelial growth factor pathway.
Academic Article A further case of G gamma-beta + hereditary persistence of Hb F associated to the -202 C----G mutation in the G gamma promoter region.
Academic Article Branching pattern in the evolutionary tree for human mitochondrial DNA.
Academic Article Frequency of the -alpha 3.7 thalassemia deletion in the non-white Cuban population.
Academic Article A case of hereditary persistence of fetal hemoglobin caused by a gene not linked to the beta-globin cluster.
Academic Article Admixture facilitates genetic adaptations to high altitude in Tibet.
Academic Article The distribution of linkage disequilibrium over anonymous genome regions.
Academic Article Frequency and molecular types of deletional alpha-thalassemia in Egypt.
Academic Article Excess of rare amino acid polymorphisms in the Toll-like receptor 4 in humans.
Academic Article Gene expression of peripheral blood cells reveals pathways downstream of glucocorticoid receptor antagonism and nab-paclitaxel treatment.
Academic Article Alpha +-thalassemia haplotypes in Italy.
Academic Article Pilot study demonstrating potential association between breast cancer image-based risk phenotypes and genomic biomarkers.
Academic Article Molecular basis for HbH disease in Italy: geographical distribution of deletional and nondeletional alpha-thalassemia haplotypes.
Academic Article Frequency and types of deletional alpha+-thalassemia in northern Sardinia.
Academic Article Molecular characterization of HbH disease in the Cuban population.
Academic Article Global diversity, population stratification, and selection of human copy-number variation.
Academic Article Characterization of genetic loci that affect susceptibility to inflammatory bowel diseases in African Americans.
Academic Article Deep History of East Asian Populations Revealed Through Genetic Analysis of the Ainu.
Academic Article Prevalence of HBeAg, anti-HBe serological markers and HBV-DNA in asymptomatic carriers in Ethiopia.
Academic Article Estimating the Ages of Selection Signals from Different Epochs in Human History.
Academic Article Different proliferative response of human and chimpanzee lymphocytes after contact with human immunodeficiency virus type 1 gp120.
Academic Article Patterns of Transcriptional Response to 1,25-Dihydroxyvitamin D3 and Bacterial Lipopolysaccharide in Primary Human Monocytes.
Academic Article Long-term genetic stability and a high-altitude East Asian origin for the peoples of the high valleys of the Himalayan arc.
Academic Article Mapping Variation in Cellular and Transcriptional Response to 1,25-Dihydroxyvitamin D3 in Peripheral Blood Mononuclear Cells.
Academic Article The Simons Genome Diversity Project: 300 genomes from 142 diverse populations.
Academic Article Editorial overview: Genetics of human origin: New horizons in human population genetics.
Academic Article Genetic structure in the Sherpa and neighboring Nepalese populations.
Academic Article Colonic transcriptional response to 1a,25(OH)2 vitamin D3 in African- and European-Americans.
Academic Article A longitudinal cline characterizes the genetic structure of human populations in the Tibetan plateau.
Academic Article The genomic landscape of Nepalese Tibeto-Burmans reveals new insights into the recent peopling of Southern Himalayas.
Academic Article The genetic prehistory of the Andean highlands 7000 years BP though European contact.
Academic Article Genetic variant at coronary artery disease and ischemic stroke locus 1p32.2 regulates endothelial responses to hemodynamics.
Academic Article Correction: A longitudinal cline characterizes the genetic structure of human populations in the Tibetan plateau.
Academic Article Detecting past and ongoing natural selection among ethnically Tibetan women at high altitude in Nepal.
Academic Article Inferring the model and onset of natural selection under varying population size from the site frequency spectrum and haplotype structure.
Academic Article Ancient genomes from the Himalayas illuminate the genetic history of Tibetans and their Tibeto-Burman speaking neighbors.
Concept Human Migration
Grant Local Adaptations in Humans
Grant Evolutionary Genetics of the Metabolic Syndrome
Grant Evolutionary genomics of the vitamin D pathway in humans - Resubmission 01
Search Criteria
  • Humans