Published in Mutat Res on March 09, 2009
Association of sirolimus adverse effects with m-TOR, p70S6K or Raptor polymorphisms in kidney transplant recipients. Pharmacogenet Genomics (2012) 0.97
Allele-specific down-regulation of RPTOR expression induced by retinoids contributes to climate adaptations. PLoS Genet (2010) 0.81
TOR signaling in growth and metabolism. Cell (2006) 35.29
Population genomics of human gene expression. Nat Genet (2007) 24.49
mTOR interacts with raptor to form a nutrient-sensitive complex that signals to the cell growth machinery. Cell (2002) 18.22
Genome-wide survey of human alternative pre-mRNA splicing with exon junction microarrays. Science (2003) 16.80
Listening to silence and understanding nonsense: exonic mutations that affect splicing. Nat Rev Genet (2002) 16.29
ESEfinder: A web resource to identify exonic splicing enhancers. Nucleic Acids Res (2003) 12.81
Natural variation in human gene expression assessed in lymphoblastoid cells. Nat Genet (2003) 11.63
Raptor, a binding partner of target of rapamycin (TOR), mediates TOR action. Cell (2002) 11.50
Exonic splicing enhancers: mechanism of action, diversity and role in human genetic diseases. Trends Biochem Sci (2000) 10.77
Common genetic variants account for differences in gene expression among ethnic groups. Nat Genet (2007) 9.04
Splicing in disease: disruption of the splicing code and the decoding machinery. Nat Rev Genet (2007) 7.42
Genome-wide detection of alternative splicing in expressed sequences of human genes. Nucleic Acids Res (2001) 7.27
GbetaL, a positive regulator of the rapamycin-sensitive pathway required for the nutrient-sensitive interaction between raptor and mTOR. Mol Cell (2003) 5.21
Inhibition of vascular endothelial cell growth factor activity by an endogenously encoded soluble receptor. Proc Natl Acad Sci U S A (1993) 5.02
An increased specificity score matrix for the prediction of SF2/ASF-specific exonic splicing enhancers. Hum Mol Genet (2006) 4.56
TOS motif-mediated raptor binding regulates 4E-BP1 multisite phosphorylation and function. Curr Biol (2003) 4.01
Evaluation of genetic variation contributing to differences in gene expression between populations. Am J Hum Genet (2008) 4.01
The mammalian target of rapamycin (mTOR) partner, raptor, binds the mTOR substrates p70 S6 kinase and 4E-BP1 through their TOR signaling (TOS) motif. J Biol Chem (2003) 3.83
mTOR Complex1-S6K1 signaling: at the crossroads of obesity, diabetes and cancer. Trends Mol Med (2007) 3.66
Identification and characterization of three members of the human SR family of pre-mRNA splicing factors. EMBO J (1995) 3.56
HEAT repeats in the Huntington's disease protein. Nat Genet (1995) 3.24
Heritability of alternative splicing in the human genome. Genome Res (2007) 2.76
Targeting the mTOR signaling network in cancer. Trends Mol Med (2007) 2.66
Identification of common genetic variation that modulates alternative splicing. PLoS Genet (2007) 1.96
Two motifs in the translational repressor PHAS-I required for efficient phosphorylation by mammalian target of rapamycin and for recognition by raptor. J Biol Chem (2003) 1.72
A functional common polymorphism in a Sp1 recognition site of the epidermal growth factor receptor gene promoter. Cancer Res (2005) 1.62
The splicing-factor oncoprotein SF2/ASF activates mTORC1. Proc Natl Acad Sci U S A (2008) 1.42
Expression of constitutive androstane receptor splice variants in human tissues and their functional consequences. J Pharmacol Exp Ther (2004) 1.18
Two silent substitutions in the PDHA1 gene cause exon 5 skipping by disruption of a putative exonic splicing enhancer. Mol Genet Metab (2007) 0.92
A human-specific mutation leads to the origin of a novel splice form of neuropsin (KLK8), a gene involved in learning and memory. Hum Mutat (2007) 0.85
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) 5.21
Complex signatures of natural selection at the Duffy blood group locus. Am J Hum Genet (2001) 3.87
Reconstructing Native American population history. Nature (2012) 3.49
Inferences about human demography based on multilocus analyses of noncoding sequences. Genetics (2002) 2.95
Adaptations to climate in candidate genes for common metabolic disorders. PLoS Genet (2008) 2.68
Using environmental correlations to identify loci underlying local adaptation. Genetics (2010) 2.52
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) 2.44
Spatial patterns of variation due to natural selection in humans. Nat Rev Genet (2009) 2.18
Balancing claims for balancing selection. Trends Genet (2004) 2.17
Adaptations to climate-mediated selective pressures in humans. PLoS Genet (2011) 2.15
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) 1.97
Comparative linkage-disequilibrium analysis of the beta-globin hotspot in primates. Am J Hum Genet (2003) 1.89
Adaptation - not by sweeps alone. Nat Rev Genet (2010) 1.85
Allelic imbalance (AI) identifies novel tissue-specific cis-regulatory variation for human UGT2B15. Hum Mutat (2010) 1.73
Geographic and haplotype structure of candidate type 2 diabetes susceptibility variants at the calpain-10 locus. Am J Hum Genet (2002) 1.61
Interactions between glucocorticoid treatment and cis-regulatory polymorphisms contribute to cellular response phenotypes. PLoS Genet (2011) 1.49
Adaptations to new environments in humans: the role of subtle allele frequency shifts. Philos Trans R Soc Lond B Biol Sci (2010) 1.40
The genetic architecture of adaptations to high altitude in Ethiopia. PLoS Genet (2012) 1.38
Haplotype structure of the UDP-glucuronosyltransferase 1A1 promoter in different ethnic groups. Pharmacogenetics (2002) 1.35
Prdm9, a major determinant of meiotic recombination hotspots, is not functional in dogs and their wild relatives, wolves and coyotes. PLoS One (2011) 1.14
Prevalence of common disease-associated variants in Asian Indians. BMC Genet (2008) 1.08
A reduced representation approach to population genetic analyses and applications to human evolution. Genome Res (2011) 1.05
Population genetic analysis of the uncoupling proteins supports a role for UCP3 in human cold resistance. Mol Biol Evol (2010) 0.99
A signature of balancing selection in the region upstream to the human UGT2B4 gene and implications for breast cancer risk. Hum Genet (2011) 0.97
Adaptive variation regulates the expression of the human SGK1 gene in response to stress. PLoS Genet (2009) 0.93
Genetic polymorphisms in uridine diphospho-glucuronosyltransferase 1A1 and breast cancer risk in Africans. Breast Cancer Res Treat (2007) 0.93
Discovery and functional assessment of gene variants in the vascular endothelial growth factor pathway. Hum Mutat (2013) 0.89
Genetic mapping with multiple levels of phenotypic information reveals determinants of lymphocyte glucocorticoid sensitivity. Am J Hum Genet (2013) 0.88
rs2981582 is associated with FGFR2 expression in normal breast. Cancer Genet Cytogenet (2010) 0.88
Natural selection and functional genetic variation in the p53 pathway. Hum Mol Genet (2011) 0.87
Sequence diversity at the proximal 14q32.1 SERPIN subcluster: evidence for natural selection favoring the pseudogenization of SERPINA2. Mol Biol Evol (2006) 0.86
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) 0.86
Genetic, functional and molecular features of glucocorticoid receptor binding. PLoS One (2013) 0.85
Incomplete lineage sorting is common in extant gibbon genera. PLoS One (2013) 0.82
Allele-specific down-regulation of RPTOR expression induced by retinoids contributes to climate adaptations. PLoS Genet (2010) 0.81
Haplotype structure and phylogenetic shadowing of a hypervariable region in the CAPN10 gene. Hum Genet (2005) 0.80
Plasma hepcidin of Ethiopian highlanders with steady-state hypoxia. Blood (2013) 0.80
Linkage disequilibrium and age estimates of a deletion polymorphism (1597DeltaC) in HLA-G suggest non-neutral evolution. Hum Immunol (2002) 0.80
Combining sperm typing and linkage disequilibrium analyses reveals differences in selective pressures or recombination rates across human populations. Genetics (2006) 0.80
Functional constraints on the constitutive androstane receptor inferred from human sequence variation and cross-species comparisons. Hum Genomics (2005) 0.79
Comparison of cellular and transcriptional responses to 1,25-dihydroxyvitamin d3 and glucocorticoids in peripheral blood mononuclear cells. PLoS One (2013) 0.79
Mapping gene-environment interactions at regulatory polymorphisms: insights into mechanisms of phenotypic variation. Transcription (2012) 0.78
Combining genetic and nongenetic biomarkers to realize the promise of pharmacogenomics for inflammatory diseases. Pharmacogenomics (2014) 0.77
UGT2B7 is not expressed in normal breast. Breast Cancer Res Treat (2008) 0.75
Gene expression of peripheral blood cells reveals pathways downstream of glucocorticoid receptor antagonism and nab-paclitaxel treatment. Pharmacogenet Genomics (2014) 0.75
Lack of association between common UGT2B nonsynonymous single-nucleotide polymorphisms and breast cancer in populations of African ancestry. Int J Cancer (2011) 0.75
Allelic imbalance assays to quantify allele-specific gene expression and transcription factor binding. Methods Mol Biol (2013) 0.75
Correction: A longitudinal cline characterizes the genetic structure of human populations in the Tibetan plateau. PLoS One (2017) 0.75