Anna Di Rienzo to Humans
This is a "connection" page, showing publications Anna Di Rienzo has written about Humans.
Connection Strength
0.818
-
Transcriptomic analysis of iPSC-derived endothelium reveals adaptations to high altitude hypoxia in energy metabolism and inflammation. PLoS Genet. 2025 Feb; 21(2):e1011570.
Score: 0.029
-
Inferring the model and onset of natural selection under varying population size from the site frequency spectrum and haplotype structure. Proc Biol Sci. 2019 02 13; 286(1896):20182541.
Score: 0.019
-
Detecting past and ongoing natural selection among ethnically Tibetan women at high altitude in Nepal. PLoS Genet. 2018 09; 14(9):e1007650.
Score: 0.019
-
A longitudinal cline characterizes the genetic structure of human populations in the Tibetan plateau. PLoS One. 2017; 12(4):e0175885.
Score: 0.017
-
Editorial overview: Genetics of human origin: New horizons in human population genetics. Curr Opin Genet Dev. 2016 12; 41:v-vi.
Score: 0.017
-
Mapping Variation in Cellular and Transcriptional Response to 1,25-Dihydroxyvitamin D3 in Peripheral Blood Mononuclear Cells. PLoS One. 2016; 11(7):e0159779.
Score: 0.016
-
Patterns of Transcriptional Response to 1,25-Dihydroxyvitamin D3 and Bacterial Lipopolysaccharide in Primary Human Monocytes. G3 (Bethesda). 2016 05 03; 6(5):1345-55.
Score: 0.016
-
Estimating the Ages of Selection Signals from Different Epochs in Human History. Mol Biol Evol. 2016 Mar; 33(3):657-69.
Score: 0.015
-
Deep History of East Asian Populations Revealed Through Genetic Analysis of the Ainu. Genetics. 2016 Jan; 202(1):261-72.
Score: 0.015
-
Adaptations to local environments in modern human populations. Curr Opin Genet Dev. 2014 Dec; 29:1-8.
Score: 0.014
-
Pilot study demonstrating potential association between breast cancer image-based risk phenotypes and genomic biomarkers. Med Phys. 2014 Mar; 41(3):031917.
Score: 0.014
-
Admixture facilitates genetic adaptations to high altitude in Tibet. Nat Commun. 2014; 5:3281.
Score: 0.014
-
Combining genetic and nongenetic biomarkers to realize the promise of pharmacogenomics for inflammatory diseases. Pharmacogenomics. 2014; 15(15):1931-40.
Score: 0.014
-
Comparison of cellular and transcriptional responses to 1,25-dihydroxyvitamin d3 and glucocorticoids in peripheral blood mononuclear cells. PLoS One. 2013; 8(10):e76643.
Score: 0.013
-
Genetic mapping with multiple levels of phenotypic information reveals determinants of lymphocyte glucocorticoid sensitivity. Am J Hum Genet. 2013 Oct 03; 93(4):735-43.
Score: 0.013
-
Genetic, functional and molecular features of glucocorticoid receptor binding. PLoS One. 2013; 8(4):e61654.
Score: 0.013
-
Incomplete lineage sorting is common in extant gibbon genera. PLoS One. 2013; 8(1):e53682.
Score: 0.013
-
Allelic imbalance assays to quantify allele-specific gene expression and transcription factor binding. Methods Mol Biol. 2013; 1015:201-11.
Score: 0.013
-
The genetic architecture of adaptations to high altitude in Ethiopia. PLoS Genet. 2012; 8(12):e1003110.
Score: 0.013
-
Mapping gene-environment interactions at regulatory polymorphisms: insights into mechanisms of phenotypic variation. Transcription. 2012 Mar-Apr; 3(2):56-62.
Score: 0.012
-
Inter-ethnic differences in lymphocyte sensitivity to glucocorticoids reflect variation in transcriptional response. Pharmacogenomics J. 2013 Apr; 13(2):121-9.
Score: 0.012
-
Prdm9, a major determinant of meiotic recombination hotspots, is not functional in dogs and their wild relatives, wolves and coyotes. PLoS One. 2011; 6(11):e25498.
Score: 0.012
-
Lack of association between common UGT2B nonsynonymous single-nucleotide polymorphisms and breast cancer in populations of African ancestry. Int J Cancer. 2012 Jun 01; 130(11):2740-2.
Score: 0.012
-
Interactions between glucocorticoid treatment and cis-regulatory polymorphisms contribute to cellular response phenotypes. PLoS Genet. 2011 Jul; 7(7):e1002162.
Score: 0.011
-
A signature of balancing selection in the region upstream to the human UGT2B4 gene and implications for breast cancer risk. Hum Genet. 2011 Dec; 130(6):767-75.
Score: 0.011
-
A reduced representation approach to population genetic analyses and applications to human evolution. Genome Res. 2011 Jul; 21(7):1087-98.
Score: 0.011
-
Adaptations to climate-mediated selective pressures in humans. PLoS Genet. 2011 Apr; 7(4):e1001375.
Score: 0.011
-
Differential allelic expression of c.1568C > A at UGT2B15 is due to variation in a novel cis-regulatory element in the 3'UTR. Gene. 2011 Jul 15; 481(1):24-8.
Score: 0.011
-
SNP discovery, expression and cis-regulatory variation in the UGT2B genes. Pharmacogenomics J. 2012 Aug; 12(4):287-96.
Score: 0.011
-
Allele-specific down-regulation of RPTOR expression induced by retinoids contributes to climate adaptations. PLoS Genet. 2010 Oct 28; 6(10):e1001178.
Score: 0.011
-
Adaptation - not by sweeps alone. Nat Rev Genet. 2010 Oct; 11(10):665-7.
Score: 0.011
-
Population genetic analysis of the uncoupling proteins supports a role for UCP3 in human cold resistance. Mol Biol Evol. 2011 Jan; 28(1):601-14.
Score: 0.011
-
Adaptations to new environments in humans: the role of subtle allele frequency shifts. Philos Trans R Soc Lond B Biol Sci. 2010 Aug 27; 365(1552):2459-68.
Score: 0.011
-
Evolutionary adaptations to dietary changes. Annu Rev Nutr. 2010 Aug 21; 30:291-314.
Score: 0.011
-
Colloquium paper: human adaptations to diet, subsistence, and ecoregion are due to subtle shifts in allele frequency. Proc Natl Acad Sci U S A. 2010 May 11; 107 Suppl 2:8924-30.
Score: 0.011
-
rs2981582 is associated with FGFR2 expression in normal breast. Cancer Genet Cytogenet. 2010 Mar; 197(2):193-4.
Score: 0.010
-
Allelic imbalance (AI) identifies novel tissue-specific cis-regulatory variation for human UGT2B15. Hum Mutat. 2010 Jan; 31(1):99-107.
Score: 0.010
-
Spatial patterns of variation due to natural selection in humans. Nat Rev Genet. 2009 Nov; 10(11):745-55.
Score: 0.010
-
Characterization of a novel splicing variant in the RAPTOR gene. Mutat Res. 2009 Mar 09; 662(1-2):88-92.
Score: 0.010
-
UGT2B7 is not expressed in normal breast. Breast Cancer Res Treat. 2009 Sep; 117(1):225-6.
Score: 0.010
-
Prediction of CYP3A4 enzyme activity using haplotype tag SNPs in African Americans. Pharmacogenomics J. 2009 Feb; 9(1):49-60.
Score: 0.009
-
Adaptations to climate in candidate genes for common metabolic disorders. PLoS Genet. 2008 Feb; 4(2):e32.
Score: 0.009
-
Combining sperm typing and linkage disequilibrium analyses reveals differences in selective pressures or recombination rates across human populations. Genetics. 2007 Feb; 175(2):795-804.
Score: 0.008
-
Sequence diversity at the proximal 14q32.1 SERPIN subcluster: evidence for natural selection favoring the pseudogenization of SERPINA2. Mol Biol Evol. 2007 Feb; 24(2):587-98.
Score: 0.008
-
Population genetics models of common diseases. Curr Opin Genet Dev. 2006 Dec; 16(6):630-6.
Score: 0.008
-
Sequence diversity and haplotype structure at the human CYP3A cluster. Pharmacogenomics J. 2006 Mar-Apr; 6(2):105-14.
Score: 0.008
-
Comparative genomics analysis of human sequence variation in the UGT1A gene cluster. Pharmacogenomics J. 2006 Jan-Feb; 6(1):52-62.
Score: 0.008
-
Interrogating multiple aspects of variation in a full resequencing data set to infer human population size changes. Proc Natl Acad Sci U S A. 2005 Dec 20; 102(51):18508-13.
Score: 0.008
-
Dynamic human admixture histories over the past ~1300 years at the northern Himalayan frontier. Sci Adv. 2025 Oct 31; 11(44):eadu9625.
Score: 0.008
-
An evolutionary framework for common diseases: the ancestral-susceptibility model. Trends Genet. 2005 Nov; 21(11):596-601.
Score: 0.008
-
Functional constraints on the constitutive androstane receptor inferred from human sequence variation and cross-species comparisons. Hum Genomics. 2005 Sep; 2(3):168-78.
Score: 0.008
-
Haplotype structure and phylogenetic shadowing of a hypervariable region in the CAPN10 gene. Hum Genet. 2005 Jul; 117(2-3):258-66.
Score: 0.007
-
Population genetics of CAPN10 and GPR35: implications for the evolution of type 2 diabetes variants. Am J Hum Genet. 2005 Apr; 76(4):548-60.
Score: 0.007
-
CYP3A variation and the evolution of salt-sensitivity variants. Am J Hum Genet. 2004 Dec; 75(6):1059-69.
Score: 0.007
-
Balancing claims for balancing selection. Trends Genet. 2004 Jul; 20(7):300-4.
Score: 0.007
-
Comparative linkage-disequilibrium analysis of the beta-globin hotspot in primates. Am J Hum Genet. 2003 Dec; 73(6):1330-40.
Score: 0.007
-
Geographic and haplotype structure of candidate type 2 diabetes susceptibility variants at the calpain-10 locus. Am J Hum Genet. 2002 May; 70(5):1096-106.
Score: 0.006
-
Ancient genomes from the Himalayas illuminate the genetic history of Tibetans and their Tibeto-Burman speaking neighbors. Nat Commun. 2022 03 08; 13(1):1203.
Score: 0.006
-
Complex signatures of natural selection at the Duffy blood group locus. Am J Hum Genet. 2002 Feb; 70(2):369-83.
Score: 0.006
-
Gene conversion and different population histories may explain the contrast between polymorphism and linkage disequilibrium levels. Am J Hum Genet. 2001 Oct; 69(4):831-43.
Score: 0.006
-
Excess of rare amino acid polymorphisms in the Toll-like receptor 4 in humans. Genetics. 2001 Aug; 158(4):1657-64.
Score: 0.006
-
Adjusting the focus on human variation. Trends Genet. 2000 Jul; 16(7):296-302.
Score: 0.005
-
Detection of the signature of natural selection in humans: evidence from the Duffy blood group locus. Am J Hum Genet. 2000 May; 66(5):1669-79.
Score: 0.005
-
Microsatellite mutations and inferences about human demography. Genetics. 2000 Apr; 154(4):1793-807.
Score: 0.005
-
Variability at the uridine diphosphate glucuronosyltransferase 1A1 promoter in human populations and primates. Pharmacogenetics. 1999 Oct; 9(5):591-9.
Score: 0.005
-
Genetic variant at coronary artery disease and ischemic stroke locus 1p32.2 regulates endothelial responses to hemodynamics. Proc Natl Acad Sci U S A. 2018 11 27; 115(48):E11349-E11358.
Score: 0.005
-
The genetic prehistory of the Andean highlands 7000 years BP though European contact. Sci Adv. 2018 11; 4(11):eaau4921.
Score: 0.005
-
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. Trends Genet. 1998 Jun; 14(6):218-9.
Score: 0.005
-
Heterogeneity of microsatellite mutations within and between loci, and implications for human demographic histories. Genetics. 1998 Mar; 148(3):1269-84.
Score: 0.005
-
The genomic landscape of Nepalese Tibeto-Burmans reveals new insights into the recent peopling of Southern Himalayas. Sci Rep. 2017 Nov 14; 7(1):15512.
Score: 0.004
-
Colonic transcriptional response to 1a,25(OH)2 vitamin D3 in African- and European-Americans. J Steroid Biochem Mol Biol. 2017 04; 168:49-59.
Score: 0.004
-
Genetic structure in the Sherpa and neighboring Nepalese populations. BMC Genomics. 2017 01 19; 18(1):102.
Score: 0.004
-
The Simons Genome Diversity Project: 300 genomes from 142 diverse populations. Nature. 2016 Oct 13; 538(7624):201-206.
Score: 0.004
-
Long-term genetic stability and a high-altitude East Asian origin for the peoples of the high valleys of the Himalayan arc. Proc Natl Acad Sci U S A. 2016 07 05; 113(27):7485-90.
Score: 0.004
-
Characterization of genetic loci that affect susceptibility to inflammatory bowel diseases in African Americans. Gastroenterology. 2015 Nov; 149(6):1575-1586.
Score: 0.004
-
Global diversity, population stratification, and selection of human copy-number variation. Science. 2015 09 11; 349(6253):aab3761.
Score: 0.004
-
Gene expression of peripheral blood cells reveals pathways downstream of glucocorticoid receptor antagonism and nab-paclitaxel treatment. Pharmacogenet Genomics. 2014 Sep; 24(9):451-8.
Score: 0.004
-
In vitro sensitivity assays and clinical response to glucocorticoids in patients with inflammatory bowel disease. J Crohns Colitis. 2014 Nov; 8(11):1539-47.
Score: 0.004
-
Mutational processes of simple-sequence repeat loci in human populations. Proc Natl Acad Sci U S A. 1994 Apr 12; 91(8):3166-70.
Score: 0.003
-
Different proliferative response of human and chimpanzee lymphocytes after contact with human immunodeficiency virus type 1 gp120. Eur J Immunol. 1994 Jan; 24(1):34-40.
Score: 0.003
-
Discovery and functional assessment of gene variants in the vascular endothelial growth factor pathway. Hum Mutat. 2014 Feb; 35(2):227-35.
Score: 0.003
-
Plasma hepcidin of Ethiopian highlanders with steady-state hypoxia. Blood. 2013 Sep 12; 122(11):1989-91.
Score: 0.003
-
Genome mapping by arbitrary amplification of yeast artificial chromosomes. Mamm Genome. 1993; 4(7):359-63.
Score: 0.003
-
Reconstructing Native American population history. Nature. 2012 Aug 16; 488(7411):370-4.
Score: 0.003
-
Branching pattern in the evolutionary tree for human mitochondrial DNA. Proc Natl Acad Sci U S A. 1991 Mar 01; 88(5):1597-601.
Score: 0.003
-
Natural selection and functional genetic variation in the p53 pathway. Hum Mol Genet. 2011 Apr 15; 20(8):1502-8.
Score: 0.003
-
Using environmental correlations to identify loci underlying local adaptation. Genetics. 2010 Aug; 185(4):1411-23.
Score: 0.003
-
Adaptive variation regulates the expression of the human SGK1 gene in response to stress. PLoS Genet. 2009 May; 5(5):e1000489.
Score: 0.002
-
Prevalence of common disease-associated variants in Asian Indians. BMC Genet. 2008 Feb 04; 9:13.
Score: 0.002
-
Genetic polymorphisms in uridine diphospho-glucuronosyltransferase 1A1 and breast cancer risk in Africans. Breast Cancer Res Treat. 2008 Jul; 110(2):367-76.
Score: 0.002
-
Alpha +-thalassemia haplotypes in Italy. Birth Defects Orig Artic Ser. 1987; 23(5A):39-42.
Score: 0.002
-
Molecular basis for HbH disease in Italy: geographical distribution of deletional and nondeletional alpha-thalassemia haplotypes. Am J Hum Genet. 1986 Nov; 39(5):631-9.
Score: 0.002
-
A common haplotype of the glucokinase gene alters fasting glucose and birth weight: association in six studies and population-genetics analyses. Am J Hum Genet. 2006 Dec; 79(6):991-1001.
Score: 0.002
-
Frequency and types of deletional alpha+-thalassemia in northern Sardinia. Hum Genet. 1985; 71(2):147-9.
Score: 0.002
-
Haplotype structure of the UDP-glucuronosyltransferase 1A1 promoter in different ethnic groups. Pharmacogenetics. 2002 Dec; 12(9):725-33.
Score: 0.002
-
Inferences about human demography based on multilocus analyses of noncoding sequences. Genetics. 2002 Jul; 161(3):1209-18.
Score: 0.002
-
Linkage disequilibrium and age estimates of a deletion polymorphism (1597DeltaC) in HLA-G suggest non-neutral evolution. Hum Immunol. 2002 May; 63(5):405-12.
Score: 0.002
-
A population genetics study of single nucleotide polymorphisms in the interleukin 4 receptor alpha (IL4RA) gene. Genes Immun. 2001 May; 2(3):128-34.
Score: 0.001
-
Tracing European founder lineages in the Near Eastern mtDNA pool. Am J Hum Genet. 2000 Nov; 67(5):1251-76.
Score: 0.001
-
Phenotype-genotype correlation of in vitro SN-38 (active metabolite of irinotecan) and bilirubin glucuronidation in human liver tissue with UGT1A1 promoter polymorphism. Clin Pharmacol Ther. 1999 May; 65(5):576-82.
Score: 0.001
-
mtDNA analysis of Nile River Valley populations: A genetic corridor or a barrier to migration? Am J Hum Genet. 1999 Apr; 64(4):1166-76.
Score: 0.001
-
Genome-wide search for asthma susceptibility loci in a founder population. The Collaborative Study on the Genetics of Asthma. Hum Mol Genet. 1998 Sep; 7(9):1393-8.
Score: 0.001
-
The distribution of linkage disequilibrium over anonymous genome regions. Hum Mol Genet. 1995 May; 4(5):887-94.
Score: 0.001
-
Toward a more accurate time scale for the human mitochondrial DNA tree. J Mol Evol. 1993 Oct; 37(4):347-54.
Score: 0.001
-
Molecular characterization of beta-thalassemia mutations in Egypt. Hum Genet. 1990 Aug; 85(3):272-4.
Score: 0.001
-
Frequency of the -alpha 3.7 thalassemia deletion in the non-white Cuban population. Gene Geogr. 1990 Aug; 4(2):65-9.
Score: 0.001
-
Prevalence of HBeAg, anti-HBe serological markers and HBV-DNA in asymptomatic carriers in Ethiopia. Eur J Epidemiol. 1989 Dec; 5(4):481-5.
Score: 0.001
-
A case of hereditary persistence of fetal hemoglobin caused by a gene not linked to the beta-globin cluster. Hum Genet. 1989 Jul; 82(4):335-7.
Score: 0.001
-
Frequency and molecular types of deletional alpha-thalassemia in Egypt. Hum Genet. 1989 Feb; 81(3):211-3.
Score: 0.001
-
Ethiopian National Hepatitis B Study. J Med Virol. 1988 Jan; 24(1):75-84.
Score: 0.001
-
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. Hemoglobin. 1987; 11(4):389-93.
Score: 0.001
-
Molecular characterization of HbH disease in the Cuban population. Hum Genet. 1986 Apr; 72(4):318-9.
Score: 0.000
-
Association of Hb H disease with sickle-trait. Hemoglobin. 1986; 10(4):421-5.
Score: 0.000