Lista de obras - Etienne Patin - Dominio Público Uruguay

A 1,100-year-old founder effect mutation in IL12B gene is responsible for Mendelian susceptibility to mycobacterial disease in Tunisian patients

artículo científico publicado en 2013

A Comprehensive Assessment of Demographic, Environmental and Host Genetic Associations with Gut Microbiome Diversity in Healthy Individuals

A comprehensive assessment of demographic, environmental, and host genetic associations with gut microbiome diversity in healthy individuals

scientific article published on 13 September 2019

A genomic portrait of the genetic architecture and regulatory impact of microRNA expression in response to infection

artículo científico publicado en 2014

Adaptive, convergent origins of the pygmy phenotype in African rainforest hunter-gatherers.

artículo científico publicado en 2014

Associations between untargeted plasma metabolomic signatures and gut microbiota composition in the <i>Milieu Intérieur</i> population of healthy adults

artículo científico publicado en 2020

Associations of autozygosity with a broad range of human phenotypes

scientific article published on 31 October 2019

Automated flow cytometric analysis across large numbers of samples and cell types

artículo científico publicado en 2015

Blacklisting variants common in private cohorts but not in public databases optimizes human exome analysis

artículo científico publicado en 2018

Common homozygosity for predicted loss-of-function variants reveals both redundant and advantageous effects of dispensable human genes

scientific article published on 02 June 2020

Deciphering the ancient and complex evolutionary history of human arylamine N-acetyltransferase genes

artículo científico publicado en 2006

Demeter's legacy: rapid changes to our genome imposed by diet

scientific article published on 11 January 2008

Different selective pressures shape the evolution of Toll-like receptors in human and African great ape populations

artículo científico publicado en 2013

Dispersals and genetic adaptation of Bantu-speaking populations in Africa and North America

artículo científico publicado en 2017

Distinctive roles of age, sex, and genetics in shaping transcriptional variation of human immune responses to microbial challenges

artículo científico publicado en 2017

Dual T cell- and B cell-intrinsic deficiency in humans with biallelic RLTPR mutations.

artículo científico publicado en 2016

Evolutionary dynamics of human Toll-like receptors and their different contributions to host defense

artículo científico publicado en 2009

Evolutionary genetic dissection of human interferons

artículo científico publicado en 2011

Evolutionary genetics evidence of an essential, nonredundant role of the IFN-γ pathway in protective immunity

artículo científico publicado en 2011

Evolutionary insights into the high worldwide prevalence of MBL2 deficiency alleles

artículo científico publicado en 2006

Evolutionary trajectories of primate genes involved in HIV pathogenesis.

artículo científico publicado en 2009

Exploring the Genetic Basis of Human Population Differences in DNA Methylation and their Causal Impact on Immune Gene Regulation

article

Exploring the genetic basis of human population differences in DNA methylation and their causal impact on immune gene regulation

article

Exploring the occurrence of classic selective sweeps in humans using whole-genome sequencing data sets

artículo científico publicado en 2014

Extensive Admixture and Selective Pressure Across the Sahel Belt

artículo científico publicado en 2015

Formulating a historical and demographic model of recent human evolution based on resequencing data from noncoding regions

artículo científico publicado en 2010

Genetic Adaptation and Neandertal Admixture Shaped the Immune System of Human Populations

artículo científico publicado en 2016

Genetic factors and age are the strongest predictors of humoral immune responses to common pathogens and vaccines

article

Genome-wide association study identifies variants associated with progression of liver fibrosis from HCV infection

artículo científico publicado en 2012

Genomic Signatures of Selective Pressures and Introgression from Archaic Hominins at Human Innate Immunity Genes

artículo científico publicado en 2016

Heterogeneous pattern of selective pressure for PRRT2 in human populations, but no association with autism spectrum disorders

artículo científico publicado en 2014

Homozygosity for TYK2 P1104A underlies tuberculosis in about 1% of patients in a cohort of European ancestry

scientific article published on 08 May 2019

Human IFN-γ immunity to mycobacteria is governed by both IL-12 and IL-23

artículo científico publicado en 2018

Human RHOH deficiency causes T cell defects and susceptibility to EV-HPV infections

artículo científico publicado en 2012

Human ancient DNA analyses reveal the high burden of tuberculosis in Europeans over the last 2,000 years

artículo científico publicado en 2021

Human genetic data reveal contrasting demographic patterns between sedentary and nomadic populations that predate the emergence of farming

artículo científico publicado en 2013

Human genetic variants and age are the strongest predictors of humoral immune responses to common pathogens and vaccines

article

Human thymopoiesis is influenced by a common genetic variant within the TCRA-TCRD locus

artículo científico publicado en 2018

IL28B alleles associated with poor hepatitis C virus (HCV) clearance protect against inflammation and fibrosis in patients infected with non-1 HCV genotypes

artículo científico publicado en 2011

IRF4 haploinsufficiency in a family with Whipple's disease.

artículo científico publicado en 2018

Impact of common risk factors of fibrosis progression in chronic hepatitis C.

artículo científico publicado en 2014

Inferring the demographic history of African farmers and pygmy hunter-gatherers using a multilocus resequencing data set

artículo científico publicado en 2009

Inherited MST1 deficiency underlies susceptibility to EV-HPV infections

artículo científico publicado en 2012

Interferon gamma receptor 2 gene variants are associated with liver fibrosis in patients with chronic hepatitis C infection

artículo científico publicado en 2010

Maternal traces of deep common ancestry and asymmetric gene flow between Pygmy hunter-gatherers and Bantu-speaking farmers

artículo científico publicado en 2008

Natural selection has driven population differentiation in modern humans

artículo científico publicado en 2008

Natural variation in the parameters of innate immune cells is preferentially driven by genetic factors

artículo científico publicado en 2018

Negative selection on human genes underlying inborn errors depends on disease outcome and both the mode and mechanism of inheritance

artículo científico publicado en 2021

New insights into human immunity from ancient genomics

artículo científico publicado en 2021

Parkinson's disease-related LRRK2 G2019S mutation results from independent mutational events in humans

artículo científico publicado en 2010

Plague as a cause for familial Mediterranean fever

artículo científico publicado en 2020

Polygenic adaptation and convergent evolution on growth and cardiac genetic pathways in African and Asian rainforest hunter-gatherers

article published in the Proceedings of the National Academy of Sciences of the United States of America

Population genetic diversity of the NAT2 gene supports a role of acetylation in human adaptation to farming in Central Asia

artículo científico publicado en 2007

Positive selection in the chromosome 16 VKORC1 genomic region has contributed to the variability of anticoagulant response in humans

artículo científico publicado en 2012

Positively selected G6PD-Mahidol mutation reduces Plasmodium vivax density in Southeast Asians

artículo científico publicado en 2009

Publisher Correction: Natural variation in the parameters of innate immune cells is preferentially driven by genetic factors

scientific article published on 01 June 2018

Quantitative genetic analysis deciphers the impact of cis and trans regulation on cell-to-cell variability in protein expression levels

artículo científico publicado en 2020

Recent Adaptive Acquisition by African Rainforest Hunter-Gatherers of the Late Pleistocene Sickle-Cell Mutation Suggests Past Differences in Malaria Exposure

scientific article published on 28 February 2019

Ribosomal protein SA haploinsufficiency in humans with isolated congenital asplenia

artículo científico publicado en 2013

Signatures of purifying and local positive selection in human miRNAs

scientific article published on 19 February 2009

Sub-Saharan African coding sequence variation and haplotype diversity at the NAT2 gene

artículo científico publicado en 2006

The Genetic Legacy of the Indian Ocean Slave Trade: Recent Admixture and Post-admixture Selection in the Makranis of Pakistan

artículo científico publicado en 2017

The Genomic Impact of European Colonization of the Americas

artículo científico publicado en 2019

The Milieu Intérieur study - an integrative approach for study of human immunological variance

artículo científico publicado en 2015

The demographic and adaptive history of central African hunter-gatherers and farmers

The demographic history and mutational load of African hunter-gatherers and farmers

scientific article published on 12 March 2018

The epigenomic landscape of African rainforest hunter-gatherers and farmers

artículo científico publicado en 2015

The evolutionary landscape of cytosolic microbial sensors in humans

artículo científico publicado en 2012

The heritage of pathogen pressures and ancient demography in the human innate-immunity CD209/CD209L region

artículo científico publicado en 2005

The human CIB1-EVER1-EVER2 complex governs keratinocyte-intrinsic immunity to β-papillomaviruses

scientific article published on 01 August 2018

The human gene damage index as a gene-level approach to prioritizing exome variants

artículo científico publicado en 2015

The impact of agricultural emergence on the genetic history of African rainforest hunter-gatherers and agriculturalists

artículo científico publicado en 2014

The selective footprints of viral pressures at the human RIG-I-like receptor family.

artículo científico publicado en 2011

Trends in DNA Methylation with Age Replicate Across Diverse Human Populations

artículo científico publicado en 2017

Trends in DNA methylation with age replicate across diverse human populations

Tuberculosis and impaired IL-23-dependent IFN-γ immunity in humans homozygous for a common missense variant

scientific article published on 01 December 2018

Two common disease-associated TYK2 variants impact exon splicing and TYK2 dosage

artículo científico publicado en 2020

Lista de obras de Etienne Patin

A 1,100-year-old founder effect mutation in IL12B gene is responsible for Mendelian susceptibility to mycobacterial disease in Tunisian patients

A Comprehensive Assessment of Demographic, Environmental and Host Genetic Associations with Gut Microbiome Diversity in Healthy Individuals

A comprehensive assessment of demographic, environmental, and host genetic associations with gut microbiome diversity in healthy individuals

A genomic portrait of the genetic architecture and regulatory impact of microRNA expression in response to infection

Adaptive, convergent origins of the pygmy phenotype in African rainforest hunter-gatherers.

Associations between untargeted plasma metabolomic signatures and gut microbiota composition in the <i>Milieu Intérieur</i> population of healthy adults

Associations of autozygosity with a broad range of human phenotypes

Automated flow cytometric analysis across large numbers of samples and cell types

Blacklisting variants common in private cohorts but not in public databases optimizes human exome analysis

Common homozygosity for predicted loss-of-function variants reveals both redundant and advantageous effects of dispensable human genes

Deciphering the ancient and complex evolutionary history of human arylamine N-acetyltransferase genes

Demeter's legacy: rapid changes to our genome imposed by diet

Different selective pressures shape the evolution of Toll-like receptors in human and African great ape populations

Dispersals and genetic adaptation of Bantu-speaking populations in Africa and North America

Distinctive roles of age, sex, and genetics in shaping transcriptional variation of human immune responses to microbial challenges

Dual T cell- and B cell-intrinsic deficiency in humans with biallelic RLTPR mutations.

Evolutionary dynamics of human Toll-like receptors and their different contributions to host defense

Evolutionary genetic dissection of human interferons

Evolutionary genetics evidence of an essential, nonredundant role of the IFN-γ pathway in protective immunity

Evolutionary insights into the high worldwide prevalence of MBL2 deficiency alleles

Evolutionary trajectories of primate genes involved in HIV pathogenesis.

Exploring the Genetic Basis of Human Population Differences in DNA Methylation and their Causal Impact on Immune Gene Regulation

Exploring the genetic basis of human population differences in DNA methylation and their causal impact on immune gene regulation

Exploring the occurrence of classic selective sweeps in humans using whole-genome sequencing data sets

Extensive Admixture and Selective Pressure Across the Sahel Belt

Formulating a historical and demographic model of recent human evolution based on resequencing data from noncoding regions

Genetic Adaptation and Neandertal Admixture Shaped the Immune System of Human Populations

Genetic factors and age are the strongest predictors of humoral immune responses to common pathogens and vaccines

Genome-wide association study identifies variants associated with progression of liver fibrosis from HCV infection

Genomic Signatures of Selective Pressures and Introgression from Archaic Hominins at Human Innate Immunity Genes

Heterogeneous pattern of selective pressure for PRRT2 in human populations, but no association with autism spectrum disorders

Homozygosity for TYK2 P1104A underlies tuberculosis in about 1% of patients in a cohort of European ancestry

Human IFN-γ immunity to mycobacteria is governed by both IL-12 and IL-23

Human RHOH deficiency causes T cell defects and susceptibility to EV-HPV infections

Human ancient DNA analyses reveal the high burden of tuberculosis in Europeans over the last 2,000 years

Human genetic data reveal contrasting demographic patterns between sedentary and nomadic populations that predate the emergence of farming

Human genetic variants and age are the strongest predictors of humoral immune responses to common pathogens and vaccines

Human thymopoiesis is influenced by a common genetic variant within the TCRA-TCRD locus

IL28B alleles associated with poor hepatitis C virus (HCV) clearance protect against inflammation and fibrosis in patients infected with non-1 HCV genotypes

IRF4 haploinsufficiency in a family with Whipple's disease.

Impact of common risk factors of fibrosis progression in chronic hepatitis C.

Inferring the demographic history of African farmers and pygmy hunter-gatherers using a multilocus resequencing data set

Inherited MST1 deficiency underlies susceptibility to EV-HPV infections

Interferon gamma receptor 2 gene variants are associated with liver fibrosis in patients with chronic hepatitis C infection

Maternal traces of deep common ancestry and asymmetric gene flow between Pygmy hunter-gatherers and Bantu-speaking farmers

Natural selection has driven population differentiation in modern humans

Natural variation in the parameters of innate immune cells is preferentially driven by genetic factors

Negative selection on human genes underlying inborn errors depends on disease outcome and both the mode and mechanism of inheritance

New insights into human immunity from ancient genomics

Parkinson's disease-related LRRK2 G2019S mutation results from independent mutational events in humans

Plague as a cause for familial Mediterranean fever

Polygenic adaptation and convergent evolution on growth and cardiac genetic pathways in African and Asian rainforest hunter-gatherers

Population genetic diversity of the NAT2 gene supports a role of acetylation in human adaptation to farming in Central Asia

Positive selection in the chromosome 16 VKORC1 genomic region has contributed to the variability of anticoagulant response in humans

Positively selected G6PD-Mahidol mutation reduces Plasmodium vivax density in Southeast Asians

Publisher Correction: Natural variation in the parameters of innate immune cells is preferentially driven by genetic factors

Quantitative genetic analysis deciphers the impact of cis and trans regulation on cell-to-cell variability in protein expression levels

Recent Adaptive Acquisition by African Rainforest Hunter-Gatherers of the Late Pleistocene Sickle-Cell Mutation Suggests Past Differences in Malaria Exposure

Ribosomal protein SA haploinsufficiency in humans with isolated congenital asplenia

Signatures of purifying and local positive selection in human miRNAs

Sub-Saharan African coding sequence variation and haplotype diversity at the NAT2 gene

The Genetic Legacy of the Indian Ocean Slave Trade: Recent Admixture and Post-admixture Selection in the Makranis of Pakistan

The Genomic Impact of European Colonization of the Americas

The Milieu Intérieur study - an integrative approach for study of human immunological variance

The demographic and adaptive history of central African hunter-gatherers and farmers

The demographic history and mutational load of African hunter-gatherers and farmers

The epigenomic landscape of African rainforest hunter-gatherers and farmers

The evolutionary landscape of cytosolic microbial sensors in humans

The heritage of pathogen pressures and ancient demography in the human innate-immunity CD209/CD209L region

The human CIB1-EVER1-EVER2 complex governs keratinocyte-intrinsic immunity to β-papillomaviruses

The human gene damage index as a gene-level approach to prioritizing exome variants

The impact of agricultural emergence on the genetic history of African rainforest hunter-gatherers and agriculturalists

The selective footprints of viral pressures at the human RIG-I-like receptor family.

Trends in DNA Methylation with Age Replicate Across Diverse Human Populations

Trends in DNA methylation with age replicate across diverse human populations

Tuberculosis and impaired IL-23-dependent IFN-γ immunity in humans homozygous for a common missense variant

Two common disease-associated TYK2 variants impact exon splicing and TYK2 dosage