Lista de obras - David Torrents - Dominio Público Uruguay

A Loss-Of-Function Splice Acceptor Variant in IGF2 is Protective for Type 2 Diabetes

artículo científico publicado en 2017

A comprehensive assessment of somatic mutation detection in cancer using whole-genome sequencing.

artículo científico publicado en 2015

A functional IFN-λ4-generating DNA polymorphism could protect older asthmatic women from aeroallergen sensitization and associate with clinical features of asthma

artículo científico publicado en 2017

A genome-wide association study identifies CDHR3 as a susceptibility locus for early childhood asthma with severe exacerbations

artículo científico publicado en 2014

A genome-wide survey of human pseudogenes

artículo científico publicado en 2003

Adaptation to environmental factors shapes the organization of regulatory regions in microbial communities

artículo científico

Altered Circulating miRNA Expression Profile in Pregestational and Gestational Obesity.

artículo científico publicado en 2015

Author Correction: Genome-wide association and HLA fine-mapping studies identify risk loci and genetic pathways underlying allergic rhinitis

artículo científico publicado en 2018

BLAST2GENE: a comprehensive conversion of BLAST output into independent genes and gene fragments

artículo científico publicado en 2004

BLUEPRINT to decode the epigenetic signature written in blood.

artículo científico publicado en 2012

Basolateral LAT-2 has a major role in the transepithelial flux of L-cystine in the renal proximal tubule cell line OK.

artículo científico publicado en 2003

CCND2 and CCND3 hijack immunoglobulin light-chain enhancers in cyclin D1- mantle cell lymphoma

scientific article published on 11 December 2018

Common genetic variants of surfactant protein-D (SP-D) are associated with type 2 diabetes

artículo científico publicado en 2013

Comparative analysis of neutrophil and monocyte epigenomes

Comparative genome and proteome analysis of Anopheles gambiae and Drosophila melanogaster

artículo científico publicado en 2002

Comprehensive characterization of complex structural variations in cancer by directly comparing genome sequence reads

artículo científico publicado en 2014

DNAlive: a tool for the physical analysis of DNA at the genomic scale

artículo científico publicado en 2008

Determining promoter location based on DNA structure first-principles calculations

artículo científico publicado en 2007

Dysregulation of Placental miRNA in Maternal Obesity Is Associated With Pre- and Postnatal Growth

artículo científico publicado en 2017

Enterotypes of the human gut microbiome

artículo científico publicado en 2011

Epigenomic analysis detects aberrant super-enhancer DNA methylation in human cancer.

artículo científico publicado en 2016

Functional analysis of novel mutations in y(+)LAT-1 amino acid transporter gene causing lysinuric protein intolerance (LPI).

artículo científico publicado en 2000

Functional and structural characterization of the first prokaryotic member of the L-amino acid transporter (LAT) family: a model for APC transporters

artículo científico publicado en 2007

GA4GH: International policies and standards for data sharing across genomic research and healthcare

artículo científico publicado en 2021

GCAT|Panel, a comprehensive structural variant haplotype map of the Iberian population from high-coverage whole-genome sequencing

artículo científico publicado en 2022

Generation and annotation of the DNA sequences of human chromosomes 2 and 4

artículo científico publicado en 2005

Genome sequence of the Brown Norway rat yields insights into mammalian evolution

artículo científico publicado en 2004

Genome-wide association and HLA fine-mapping studies identify risk loci and genetic pathways underlying allergic rhinitis

scholarly article by Johannes Waage et al published August 2018 in Nature Genetics

Genome-wide associations for birth weight and correlations with adult disease

artículo científico publicado en 2016

Genomics of ecological adaptation in cactophilic Drosophila.

artículo científico publicado en 2014

Identification and analysis of genes and pseudogenes within duplicated regions in the human and mouse genomes

artículo científico publicado en 2006

Identification and characterization of a membrane protein (y+L amino acid transporter-1) that associates with 4F2hc to encode the amino acid transport activity y+L. A candidate gene for lysinuric protein intolerance

artículo científico publicado en 1998

Identification and functional characterization of a novel low affinity aromatic-preferring amino acid transporter (arpAT). One of the few proteins silenced during primate evolution

scientific journal article

Identification of SLC7A7, encoding y+LAT-1, as the lysinuric protein intolerance gene.

artículo científico publicado en 1999

Identification of a membrane protein, LAT-2, that Co-expresses with 4F2 heavy chain, an L-type amino acid transport activity with broad specificity for small and large zwitterionic amino acids

artículo científico publicado en 1999

Identification of novel type 2 diabetes candidate genes involved in the crosstalk between the mitochondrial and the insulin signaling systems

artículo científico publicado en 2012

Impact of methylation on the physical properties of DNA.

artículo científico publicado en 2012

Initial sequencing and comparative analysis of the mouse genome

artículo científico publicado en 2002

Is There Selection for the Pace of Successive Inactivation of the arpAT Gene in Primates?

article

Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors

artículo científico publicado en 2019

Metformin alters the gut microbiome of individuals with treatment-naive type 2 diabetes, contributing to the therapeutic effects of the drug

artículo científico publicado en 2017

Non-coding recurrent mutations in chronic lymphocytic leukaemia

artículo científico publicado en 2015

Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (bo,+AT) of rBAT

artículo científico publicado en 1999

PAL2NAL: robust conversion of protein sequence alignments into the corresponding codon alignments

artículo científico publicado en 2006

PGBD5 promotes site-specific oncogenic mutations in human tumors

artículo científico publicado en 2017

Projection structure of a member of the amino acid/polyamine/organocation transporter superfamily

artículo científico publicado en 2008

Protein coding potential of retroviruses and other transposable elements in vertebrate genomes

artículo científico publicado en 2005

Publisher Correction: Re-analysis of public genetic data reveals a rare X-chromosomal variant associated with type 2 diabetes.

artículo científico publicado en 2018

Re-analysis of public genetic data reveals a rare X-chromosomal variant associated with type 2 diabetes

artículo científico publicado en 2018

ReLA, a local alignment search tool for the identification of distal and proximal gene regulatory regions and their conserved transcription factor binding sites.

artículo científico publicado en 2012

Recessive Genome-Wide Meta-analysis Illuminates Genetic Architecture of Type 2 Diabetes

artículo científico publicado en 2022

Selective maintenance of Drosophila tandemly arranged duplicated genes during evolution

artículo científico publicado en 2008

Sequence and comparative analysis of the chicken genome provide unique perspectives on vertebrate evolution

artículo científico publicado en 2004

Sequential amino acid exchange across b(0,+)-like system in chicken brush border jejunum.

artículo científico publicado en 2001

Somatic signature of brain-specific single nucleotide variations in sporadic Alzheimer's disease

artículo científico publicado en 2014

Surgery-Induced Weight Loss Is Associated With the Downregulation of Genes Targeted by MicroRNAs in Adipose Tissue.

artículo científico publicado en 2015

TIGER: The gene expression regulatory variation landscape of human pancreatic islets

artículo científico publicado en 2021

The BLUEPRINT Data Analysis Portal.

artículo científico publicado en 2016

The DNA sequence of human chromosome 7

artículo científico publicado en 2003

The human genome: genes, pseudogenes, and variation on chromosome 7.

artículo científico publicado en 2003

The molecular basis of cystinuria: the role of the rBAT gene

artículo científico publicado en 1996

The reference epigenome and regulatory chromatin landscape of chronic lymphocytic leukemia

scientific article published on 21 May 2018

Tuning fresh: radiation through rewiring of central metabolism in streamlined bacteria

artículo científico publicado en 2016

Unravelling the hidden DNA structural/physical code provides novel insights on promoter location

artículo científico publicado en 2013

Lista de obras de David Torrents

A Loss-Of-Function Splice Acceptor Variant in IGF2 is Protective for Type 2 Diabetes

A comprehensive assessment of somatic mutation detection in cancer using whole-genome sequencing.

A functional IFN-λ4-generating DNA polymorphism could protect older asthmatic women from aeroallergen sensitization and associate with clinical features of asthma

A genome-wide association study identifies CDHR3 as a susceptibility locus for early childhood asthma with severe exacerbations

A genome-wide survey of human pseudogenes

Adaptation to environmental factors shapes the organization of regulatory regions in microbial communities

Altered Circulating miRNA Expression Profile in Pregestational and Gestational Obesity.

Author Correction: Genome-wide association and HLA fine-mapping studies identify risk loci and genetic pathways underlying allergic rhinitis

BLAST2GENE: a comprehensive conversion of BLAST output into independent genes and gene fragments

BLUEPRINT to decode the epigenetic signature written in blood.

Basolateral LAT-2 has a major role in the transepithelial flux of L-cystine in the renal proximal tubule cell line OK.

CCND2 and CCND3 hijack immunoglobulin light-chain enhancers in cyclin D1- mantle cell lymphoma

Common genetic variants of surfactant protein-D (SP-D) are associated with type 2 diabetes

Comparative analysis of neutrophil and monocyte epigenomes

Comparative genome and proteome analysis of Anopheles gambiae and Drosophila melanogaster

Comprehensive characterization of complex structural variations in cancer by directly comparing genome sequence reads

DNAlive: a tool for the physical analysis of DNA at the genomic scale

Determining promoter location based on DNA structure first-principles calculations

Dysregulation of Placental miRNA in Maternal Obesity Is Associated With Pre- and Postnatal Growth

Enterotypes of the human gut microbiome

Epigenomic analysis detects aberrant super-enhancer DNA methylation in human cancer.

Functional analysis of novel mutations in y(+)LAT-1 amino acid transporter gene causing lysinuric protein intolerance (LPI).

Functional and structural characterization of the first prokaryotic member of the L-amino acid transporter (LAT) family: a model for APC transporters

GA4GH: International policies and standards for data sharing across genomic research and healthcare

GCAT|Panel, a comprehensive structural variant haplotype map of the Iberian population from high-coverage whole-genome sequencing

Generation and annotation of the DNA sequences of human chromosomes 2 and 4

Genome sequence of the Brown Norway rat yields insights into mammalian evolution

Genome-wide association and HLA fine-mapping studies identify risk loci and genetic pathways underlying allergic rhinitis

Genome-wide associations for birth weight and correlations with adult disease

Genomics of ecological adaptation in cactophilic Drosophila.

Identification and analysis of genes and pseudogenes within duplicated regions in the human and mouse genomes

Identification and characterization of a membrane protein (y+L amino acid transporter-1) that associates with 4F2hc to encode the amino acid transport activity y+L. A candidate gene for lysinuric protein intolerance

Identification and functional characterization of a novel low affinity aromatic-preferring amino acid transporter (arpAT). One of the few proteins silenced during primate evolution

Identification of SLC7A7, encoding y+LAT-1, as the lysinuric protein intolerance gene.

Identification of a membrane protein, LAT-2, that Co-expresses with 4F2 heavy chain, an L-type amino acid transport activity with broad specificity for small and large zwitterionic amino acids

Identification of novel type 2 diabetes candidate genes involved in the crosstalk between the mitochondrial and the insulin signaling systems

Impact of methylation on the physical properties of DNA.

Initial sequencing and comparative analysis of the mouse genome

Is There Selection for the Pace of Successive Inactivation of the arpAT Gene in Primates?

Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors

Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors

Metformin alters the gut microbiome of individuals with treatment-naive type 2 diabetes, contributing to the therapeutic effects of the drug

Non-coding recurrent mutations in chronic lymphocytic leukaemia

Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (bo,+AT) of rBAT

PAL2NAL: robust conversion of protein sequence alignments into the corresponding codon alignments

PGBD5 promotes site-specific oncogenic mutations in human tumors

Projection structure of a member of the amino acid/polyamine/organocation transporter superfamily

Protein coding potential of retroviruses and other transposable elements in vertebrate genomes

Publisher Correction: Re-analysis of public genetic data reveals a rare X-chromosomal variant associated with type 2 diabetes.

Re-analysis of public genetic data reveals a rare X-chromosomal variant associated with type 2 diabetes

ReLA, a local alignment search tool for the identification of distal and proximal gene regulatory regions and their conserved transcription factor binding sites.

Recessive Genome-Wide Meta-analysis Illuminates Genetic Architecture of Type 2 Diabetes

Selective maintenance of Drosophila tandemly arranged duplicated genes during evolution

Sequence and comparative analysis of the chicken genome provide unique perspectives on vertebrate evolution

Sequential amino acid exchange across b(0,+)-like system in chicken brush border jejunum.

Somatic signature of brain-specific single nucleotide variations in sporadic Alzheimer's disease

Surgery-Induced Weight Loss Is Associated With the Downregulation of Genes Targeted by MicroRNAs in Adipose Tissue.

TIGER: The gene expression regulatory variation landscape of human pancreatic islets

The BLUEPRINT Data Analysis Portal.

The DNA sequence of human chromosome 7

The human genome: genes, pseudogenes, and variation on chromosome 7.

The molecular basis of cystinuria: the role of the rBAT gene

The reference epigenome and regulatory chromatin landscape of chronic lymphocytic leukemia

Tuning fresh: radiation through rewiring of central metabolism in streamlined bacteria

Unravelling the hidden DNA structural/physical code provides novel insights on promoter location