Lista de obras - Charles Mein - Dominio Público Uruguay

A Genetic Study of the Ghrelin and Growth Hormone Secretagogue Receptor (GHSR) Genes and Stature

article

A molecular genetic and statistical approach for the diagnosis of dual-site cancers.

artículo científico publicado en 2004

A new variation in the promoter region, the -604 C>T, and the Leu72Met polymorphism of the ghrelin gene are associated with protection to insulin resistance.

artículo científico publicado en 2007

A search for type 1 diabetes susceptibility genes in families from the United Kingdom

article

A simple and novel method for RNA-seq library preparation of single cell cDNA analysis by hyperactive Tn5 transposase

artículo científico publicado en 2012

A variation in the ghrelin gene increases weight and decreases insulin secretion in tall, obese children

artículo científico publicado en 2002

ABCA12 is the major harlequin ichthyosis gene

artículo científico publicado en 2006

Adaptive from Innate: Human IFN-γ+CD4+ T Cells Can Arise Directly from CXCL8-Producing Recent Thymic Emigrants in Babies and Adults.

artículo científico publicado en 2017

Association between gene expression biomarkers of immunosuppression and blood transfusion in severely injured polytrauma patients.

artículo científico publicado en 2015

Association between gene expression biomarkers of immunosuppression and blood transfusion in severely injured polytrauma patients.

artículo científico publicado en 2014

Association of Melanin-Concentrating Hormone Receptor 1 5' Polymorphism With Early-Onset Extreme Obesity

artículo científico publicado en 2005

Association studies on ghrelin and ghrelin receptor gene polymorphisms with obesity

artículo científico publicado en 2009

BayMeth: improved DNA methylation quantification for affinity capture sequencing data using a flexible Bayesian approach

artículo científico publicado en 2014

Comparison of transcriptome responses to glyphosate, isoxaflutole, quizalofop-p-ethyl and mesotrione in the HepaRG cell line

article

Control of spasticity in a multiple sclerosis model using central nervous system-excluded CB1 cannabinoid receptor agonists

artículo científico publicado en 2013

CpG dinucleotide-specific hypermethylation of the TNS3 gene promoter in human renal cell carcinoma

artículo científico publicado en 2013

Cytokine responses to exercise and activity in patients with chronic fatigue syndrome: case-control study.

artículo científico publicado en 2017

Dense genotyping identifies and localizes multiple common and rare variant association signals in celiac disease

artículo científico publicado en 2011

Differences between disease-associated endoplasmic reticulum aminopeptidase 1 (ERAP1) isoforms in cellular expression, interactions with tumour necrosis factor receptor 1 (TNF-R1) and regulation by cytokines

artículo científico publicado en 2015

Distinctive patterns of microRNA expression associated with karyotype in acute myeloid leukaemia

artículo científico publicado en 2008

Double-blind randomised placebo-controlled trial of bolus-dose vitamin D3 supplementation in adults with asthma (ViDiAs).

artículo científico publicado en 2015

Ethnic variation in inflammatory profile in tuberculosis

artículo científico publicado en 2013

Evaluation of DNA extraction methods from mouse stomachs for the quantification of H. pylori by real-time PCR.

artículo científico publicado en 2005

Evidence of a role for GTP cyclohydrolase-1 in visceral pain

artículo científico publicado en 2015

Examining the Candidacy of Ghrelin as a Gene Responsible for Variation in Adult Stature in a United Kingdom Population with Type 2 Diabetes

article

Filaggrin mutations are associated with ichthyosis vulgaris in the Bangladeshi population.

artículo científico publicado en 2009

Functional analysis of tenocytes gene expression in tendon fascicles subjected to cyclic tensile strain.

artículo científico publicado en 2010

Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome

artículo científico publicado en 2003

Genetics of essential hypertension

artículo científico publicado en 2004

Genome-wide Linkage Analysis for Severe Obesity in French Caucasians Finds Significant Susceptibility Locus on Chromosome 19q

article

Genome-wide analysis of allelic expression imbalance in human primary cells by high-throughput transcriptome resequencing

artículo científico publicado en 2010

Genome-wide association study of survival from sepsis due to pneumonia: an observational cohort study

artículo científico publicado en 2014

Haplotype structure, LD blocks, and uneven recombination within the LRP5 gene.

artículo científico publicado en 2003

Haplotypes of the WNK1 gene associate with blood pressure variation in a severely hypertensive population from the British Genetics of Hypertension study

article

Harlequin ichthyosis: a review of clinical and molecular findings in 45 cases

artículo científico publicado en 2011

Heterogeneous topographic profiles of kinetic and cell cycle regulator microsatellites in atypical (dysplastic) melanocytic nevi.

artículo científico publicado en 2011

High quality genomic DNA extraction from postmortem fetal tissue.

artículo científico publicado en 2012

High-dose vitamin D(3) during intensive-phase antimicrobial treatment of pulmonary tuberculosis: a double-blind randomised controlled trial

artículo científico publicado en 2011

Homozygous mutations in the 5' region of the JUP gene result in cutaneous disease but normal heart development in children

artículo científico publicado en 2010

Identification of type 1 diabetes-associated DNA methylation variable positions that precede disease diagnosis.

artículo científico publicado en 2011

Increased Support for Linkage of a Novel Locus on Chromosome 5q13 for Essential Hypertension in the British Genetics of Hypertension Study

article

Increased invasive behaviour in cutaneous squamous cell carcinoma with loss of basement-membrane type VII collagen.

artículo científico publicado en 2009

Inflammatory transcriptome profiling of human monocytes exposed acutely to cigarette smoke.

artículo científico publicado en 2012

Integrated functional, gene expression and genomic analysis for the identification of cancer targets

artículo científico publicado en 2009

Integrated genomic analysis identifies recurrent mutations and evolution patterns driving the initiation and progression of follicular lymphoma

artículo científico publicado en 2013

Integrative mRNA profiling comparing cultured primary cells with clinical samples reveals PLK1 and C20orf20 as therapeutic targets in cutaneous squamous cell carcinoma

artículo científico publicado en 2011

Intestinal injury and endotoxemia in children undergoing surgery for congenital heart disease

artículo científico publicado en 2011

Linkage analysis using co-phenotypes in the BRIGHT study reveals novel potential susceptibility loci for hypertension

artículo científico publicado en 2006

Methylation of the FGFR2 gene is associated with high birth weight centile in humans

artículo científico publicado en 2014

Multiple common variants for celiac disease influencing immune gene expression

artículo científico publicado en 2010

Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis. ⬇️

artículo científico publicado en 2005

Mutations in EDA and EDAR Genes in a Large Mexican Hispanic Cohort with Hypohidrotic Ectodermal Dysplasia

artículo científico publicado en 2015

Negligible impact of rare autoimmune-locus coding-region variants on missing heritability

artículo científico publicado en 2013

Newly identified genetic risk variants for celiac disease related to the immune response

artículo científico publicado en 2008

No contribution of angiotensin-converting enzyme (ACE) gene variants to severe obesity: a model for comprehensive case/control and quantitative cladistic analysis of ACE in human diseases

article

PPAR-gamma2 Pro12Ala variant is associated with greater insulin sensitivity in childhood obesity

artículo científico publicado en 2004

Quantification of X-chromosome inactivation patterns in haematological samples using the DNA PCR-based HUMARA assay

artículo científico publicado en 1996

Quantitative genome-wide methylation analysis of high-grade non-muscle invasive bladder cancer.

artículo científico publicado en 2016

Quantitative, high-resolution epigenetic profiling of CpG loci identifies associations with cord blood plasma homocysteine and birth weight in humans

artículo científico publicado en 2011

Rare and functional SIAE variants are not associated with autoimmune disease risk in up to 66,924 individuals of European ancestry

artículo científico publicado en 2011

Selection of candidate genes in hypertension.

artículo científico publicado en 2005

Single-Cell Expression Profiling Reveals a Dynamic State of Cardiac Precursor Cells in the Early Mouse Embryo

artículo científico publicado en 2015

Somatic mitochondrial DNA mutations in primary and metastatic ovarian cancer

artículo científico publicado en 2006

Successful amplification of degraded DNA for use with high-throughput SNP genotyping platforms.

artículo científico publicado en 2008

The EIF2AK3 gene region and type I diabetes in subjects from South India

artículo científico publicado en 2004

The South African "bathing suit ichthyosis" is a form of lamellar ichthyosis caused by a homozygous missense mutation, p.R315L, in transglutaminase 1.

artículo científico publicado en 2006

The common PPAR-gamma2 Pro12Ala variant is associated with greater insulin sensitivity

artículo científico publicado en 2004

Transcriptional consequences of schizophrenia candidate miR-137 manipulation in human neural progenitor cells

artículo científico publicado en 2014

Two-dimensional genome-scan identifies novel epistatic loci for essential hypertension

article

Vitamin D accelerates resolution of inflammatory responses during tuberculosis treatment

artículo científico publicado en 2012

WWOX tumour suppressor gene polymorphisms and ovarian cancer pathology and prognosis.

artículo científico publicado en 2010

Yes-associated protein (YAP) functions as a tumor suppressor in breast.

artículo científico publicado en 2008

Lista de obras de Charles Mein

A Genetic Study of the Ghrelin and Growth Hormone Secretagogue Receptor (GHSR) Genes and Stature

A molecular genetic and statistical approach for the diagnosis of dual-site cancers.

A new variation in the promoter region, the -604 C>T, and the Leu72Met polymorphism of the ghrelin gene are associated with protection to insulin resistance.

A search for type 1 diabetes susceptibility genes in families from the United Kingdom

A simple and novel method for RNA-seq library preparation of single cell cDNA analysis by hyperactive Tn5 transposase

A variation in the ghrelin gene increases weight and decreases insulin secretion in tall, obese children

ABCA12 is the major harlequin ichthyosis gene

Adaptive from Innate: Human IFN-γ+CD4+ T Cells Can Arise Directly from CXCL8-Producing Recent Thymic Emigrants in Babies and Adults.

Association between gene expression biomarkers of immunosuppression and blood transfusion in severely injured polytrauma patients.

Association between gene expression biomarkers of immunosuppression and blood transfusion in severely injured polytrauma patients.

Association of Melanin-Concentrating Hormone Receptor 1 5' Polymorphism With Early-Onset Extreme Obesity

Association studies on ghrelin and ghrelin receptor gene polymorphisms with obesity

BayMeth: improved DNA methylation quantification for affinity capture sequencing data using a flexible Bayesian approach

Comparison of transcriptome responses to glyphosate, isoxaflutole, quizalofop-p-ethyl and mesotrione in the HepaRG cell line

Control of spasticity in a multiple sclerosis model using central nervous system-excluded CB1 cannabinoid receptor agonists

CpG dinucleotide-specific hypermethylation of the TNS3 gene promoter in human renal cell carcinoma

Cytokine responses to exercise and activity in patients with chronic fatigue syndrome: case-control study.

Dense genotyping identifies and localizes multiple common and rare variant association signals in celiac disease

Differences between disease-associated endoplasmic reticulum aminopeptidase 1 (ERAP1) isoforms in cellular expression, interactions with tumour necrosis factor receptor 1 (TNF-R1) and regulation by cytokines

Distinctive patterns of microRNA expression associated with karyotype in acute myeloid leukaemia

Double-blind randomised placebo-controlled trial of bolus-dose vitamin D3 supplementation in adults with asthma (ViDiAs).

Ethnic variation in inflammatory profile in tuberculosis

Evaluation of DNA extraction methods from mouse stomachs for the quantification of H. pylori by real-time PCR.

Evidence of a role for GTP cyclohydrolase-1 in visceral pain

Examining the Candidacy of Ghrelin as a Gene Responsible for Variation in Adult Stature in a United Kingdom Population with Type 2 Diabetes

Filaggrin mutations are associated with ichthyosis vulgaris in the Bangladeshi population.

Functional analysis of tenocytes gene expression in tendon fascicles subjected to cyclic tensile strain.

Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome

Genetics of essential hypertension

Genome-wide Linkage Analysis for Severe Obesity in French Caucasians Finds Significant Susceptibility Locus on Chromosome 19q

Genome-wide analysis of allelic expression imbalance in human primary cells by high-throughput transcriptome resequencing

Genome-wide association study of survival from sepsis due to pneumonia: an observational cohort study

Haplotype structure, LD blocks, and uneven recombination within the LRP5 gene.

Haplotypes of the WNK1 gene associate with blood pressure variation in a severely hypertensive population from the British Genetics of Hypertension study

Harlequin ichthyosis: a review of clinical and molecular findings in 45 cases

Heterogeneous topographic profiles of kinetic and cell cycle regulator microsatellites in atypical (dysplastic) melanocytic nevi.

High quality genomic DNA extraction from postmortem fetal tissue.

High-dose vitamin D(3) during intensive-phase antimicrobial treatment of pulmonary tuberculosis: a double-blind randomised controlled trial

Homozygous mutations in the 5' region of the JUP gene result in cutaneous disease but normal heart development in children

Identification of type 1 diabetes-associated DNA methylation variable positions that precede disease diagnosis.

Increased Support for Linkage of a Novel Locus on Chromosome 5q13 for Essential Hypertension in the British Genetics of Hypertension Study

Increased invasive behaviour in cutaneous squamous cell carcinoma with loss of basement-membrane type VII collagen.

Inflammatory transcriptome profiling of human monocytes exposed acutely to cigarette smoke.

Integrated functional, gene expression and genomic analysis for the identification of cancer targets

Integrated genomic analysis identifies recurrent mutations and evolution patterns driving the initiation and progression of follicular lymphoma

Integrative mRNA profiling comparing cultured primary cells with clinical samples reveals PLK1 and C20orf20 as therapeutic targets in cutaneous squamous cell carcinoma

Intestinal injury and endotoxemia in children undergoing surgery for congenital heart disease

Linkage analysis using co-phenotypes in the BRIGHT study reveals novel potential susceptibility loci for hypertension

Methylation of the FGFR2 gene is associated with high birth weight centile in humans

Multiple common variants for celiac disease influencing immune gene expression

Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis. ⬇️

Mutations in EDA and EDAR Genes in a Large Mexican Hispanic Cohort with Hypohidrotic Ectodermal Dysplasia

Negligible impact of rare autoimmune-locus coding-region variants on missing heritability

Newly identified genetic risk variants for celiac disease related to the immune response

No contribution of angiotensin-converting enzyme (ACE) gene variants to severe obesity: a model for comprehensive case/control and quantitative cladistic analysis of ACE in human diseases

PPAR-gamma2 Pro12Ala variant is associated with greater insulin sensitivity in childhood obesity

Quantification of X-chromosome inactivation patterns in haematological samples using the DNA PCR-based HUMARA assay

Quantitative genome-wide methylation analysis of high-grade non-muscle invasive bladder cancer.

Quantitative, high-resolution epigenetic profiling of CpG loci identifies associations with cord blood plasma homocysteine and birth weight in humans

Rare and functional SIAE variants are not associated with autoimmune disease risk in up to 66,924 individuals of European ancestry

Selection of candidate genes in hypertension.

Single-Cell Expression Profiling Reveals a Dynamic State of Cardiac Precursor Cells in the Early Mouse Embryo

Somatic mitochondrial DNA mutations in primary and metastatic ovarian cancer

Successful amplification of degraded DNA for use with high-throughput SNP genotyping platforms.

The EIF2AK3 gene region and type I diabetes in subjects from South India

The South African "bathing suit ichthyosis" is a form of lamellar ichthyosis caused by a homozygous missense mutation, p.R315L, in transglutaminase 1.

The common PPAR-gamma2 Pro12Ala variant is associated with greater insulin sensitivity

Transcriptional consequences of schizophrenia candidate miR-137 manipulation in human neural progenitor cells

Two-dimensional genome-scan identifies novel epistatic loci for essential hypertension

Vitamin D accelerates resolution of inflammatory responses during tuberculosis treatment

WWOX tumour suppressor gene polymorphisms and ovarian cancer pathology and prognosis.

Yes-associated protein (YAP) functions as a tumor suppressor in breast.