Lista de obras - Julian C Knight - Dominio Público Uruguay

"Not pathogenic until proven otherwise": perspectives of UK clinical genomics professionals toward secondary findings in context of a Genomic Medicine Multidisciplinary Team and the 100,000 Genomes Project.

artículo científico publicado en 2017

A ChIP-seq defined genome-wide map of vitamin D receptor binding: associations with disease and evolution

artículo científico publicado en 2010

A common haplotype of the TNF receptor 2 gene modulates endotoxin tolerance

artículo científico publicado en 2011

A common variant associated with dyslexia reduces expression of the KIAA0319 gene

artículo científico publicado en 2009

A community approach to mortality prediction in sepsis via gene expression analysis.

artículo científico publicado en 2018

A functional AT/G polymorphism in the 5'-untranslated region of SETDB2 in the IgE locus on human chromosome 13q14

artículo científico publicado en 2015

A genetics-led approach defines the drug target landscape of 30 immune-related traits

scientific article published on 28 June 2019

A polymorphism that affects OCT-1 binding to the TNF promoter region is associated with severe malaria

artículo científico publicado en 1999

Accuracy of genotyping of single-nucleotide polymorphisms by PCR-ELISA allele-specific oligonucleotide hybridization typing and by amplification refractory mutation system

artículo científico publicado en 1999

Allele-specific repression of lymphotoxin-alpha by activated B cell factor-1

artículo científico publicado en 2004

Allele-specific transcription of the asthma-associated PHD finger protein 11 gene (PHF11) modulated by octamer-binding transcription factor 1 (Oct-1).

artículo científico publicado en 2011

AltHapAlignR: improved accuracy of RNA-seq analyses through the use of alternative haplotypes

article

An allele-specific gene expression assay to test the functional basis of genetic associations

artículo científico publicado en 2010

An ankylosing spondylitis-associated genetic variant in the IL23R-IL12RB2 intergenic region modulates enhancer activity and is associated with increased Th1-cell differentiation

artículo científico publicado en 2016

An integrated approach to defining genetic and environmental determinants for major clinical outcomes involving vitamin D.

artículo científico publicado en 2014

An integrated expression phenotype mapping approach defines common variants in LEP, ALOX15 and CAPNS1 associated with induction of IL-6

artículo científico publicado en 2009

Analysis of allele-specific gene expression

artículo científico publicado en 2006

Antibody testing for COVID-19: A report from the National COVID Scientific Advisory Panel

Application of whole genome and RNA sequencing to investigate the genomic landscape of common variable immunodeficiency disorders

artículo científico publicado en 2015

Approaches for establishing the function of regulatory genetic variants involved in disease

artículo científico publicado en 2014

Associations of HLA alleles with specific language impairment

scientific article published on 17 January 2014

Asymmetric Hydrogenation of Ketones with Ruthenium Complexes ofrac- and Enantiopure (S,S)-1,2-Bis((diphenylphosphino)methyl)cyclohexane: A Comparative Study withrac- and (R)-BINAP

Asymmetric platinum group metal-catalyzed carbonyl-ene reactions: carbon-carbon bond formation versus isomerization.

artículo científico publicado en 2006

Biaryl-Like CATPHOS Diphosphines via Double Diels–Alder Cycloaddition between 1,4-Bis(diphenylphosphinoyl)buta-1,3-diyne and Anthracenes: Efficient Ligands for the Palladium-Catalyzed Amination of Aromatic Bromides and α-Arylation of Ketones

Cell Specific eQTL Analysis without Sorting Cells

artículo científico publicado en 2015

Characterisation of the global transcriptional response to heat shock and the impact of individual genetic variation

scientific article published on 24 August 2016

Chromatin profiling across the human tumour necrosis factor gene locus reveals a complex, cell type-specific landscape with novel regulatory elements

artículo científico publicado en 2008

Chronic mucocutaneous candidiasis: characterization of a family with STAT-1 gain-of-function and development of an ex-vivo assay for Th17 deficiency of diagnostic utility

artículo científico publicado en 2015

Complex NF-kappaB interactions at the distal tumor necrosis factor promoter region in human monocytes.

artículo científico publicado en 1998

Context-specific regulation of surface and soluble IL7R expression by an autoimmune risk allele

artículo científico publicado en 2019

Distinct HLA associations of LGI1 and CASPR2-antibody diseases.

artículo científico publicado en 2018

Distinct Transcriptional and Anti-Mycobacterial Profiles of Peripheral Blood Monocytes Dependent on the Ratio of Monocytes: Lymphocytes

artículo científico publicado en 2015

Early-onset autoimmunity associated with SOCS1 haploinsufficiency

artículo científico publicado en 2020

Efficient Asymmetric Carbonyl-Ene Reactions Catalyzed by Platinum Metal Lewis Acid Complexes of Conformationally Flexible NUPHOS Diphosphines: A Comparison with BINAP

Efficient Cycloisomerization of Propargyl Amides by Electrophilic Gold(I) Complexes of KITPHOS Monophosphines: A Comparative Study

article

Electron-Rich Trialkyl-Type Dihydro-KITPHOS Monophosphines: Efficient Ligands for Palladium-Catalyzed Suzuki–Miyaura Cross-Coupling. Comparison with Their Biaryl-Like KITPHOS Monophosphine Counterparts

article

Elevated risk of invasive group A streptococcal disease and host genetic variation in the human leucocyte antigen locus

artículo científico publicado en 2019

Enhanced understanding of the host-pathogen interaction in sepsis: new opportunities for omic approaches.

artículo científico publicado en 2017

Evidence for a second ankylosing spondylitis-associated RUNX3 regulatory polymorphism.

artículo científico publicado en 2018

Expression of the multiple sclerosis-associated MHC class II Allele HLA-DRB1*1501 is regulated by vitamin D.

artículo científico publicado en 2009

Factors influencing success of clinical genome sequencing across a broad spectrum of disorders

artículo científico publicado en 2015

Fine mapping genetic determinants of the highly variably expressed MHC gene ZFP57.

artículo científico publicado en 2013

Functional implications of genetic variation in non-coding DNA for disease susceptibility and gene regulation

artículo científico publicado en 2003

Genetic association analyses implicate aberrant regulation of innate and adaptive immunity genes in the pathogenesis of systemic lupus erythematosus.

artículo científico publicado en 2015

Genetic determinants of HSP70 gene expression following heat shock

artículo científico publicado en 2010

Genetic mechanisms of critical illness in Covid-19

scientific article published on 11 December 2020

Genetic variants associated with non-typhoidal Salmonella bacteraemia in African children.

artículo científico publicado en 2015

Genetics of gene expression in immunity to infection

artículo científico publicado en 2014

Genetics of gene expression in primary immune cells identifies cell type-specific master regulators and roles of HLA alleles

artículo científico publicado en 2012

Genome-wide analysis identifies a role for common copy number variants in specific language impairment

artículo científico publicado en 2015

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

artículo científico publicado en 2014

Genomic Response to Vitamin D Supplementation in the Setting of a Randomized, Placebo-Controlled Trial.

artículo científico publicado en 2018

Genomic landscape of the individual host response and outcomes in sepsis: a prospective cohort study

artículo científico publicado en 2016

Genomic mapping of the MHC transactivator CIITA using an integrated ChIP-seq and genetical genomics approach

artículo científico publicado en 2014

Genomic modulators of gene expression in human neutrophils

artículo científico publicado en 2015

Genomic modulators of the immune response

artículo científico publicado en 2012

HLA class I alleles tag HLA-DRB1*1501 haplotypes for differential risk in multiple sclerosis susceptibility

artículo científico publicado en 2008

HLA-C Level Is Regulated by a Polymorphic Oct1 Binding Site in the HLA-C Promoter Region.

artículo científico publicado en 2016

High resolution HLA haplotyping by imputation for a British population bioresource

artículo científico publicado en 2017

Host genetics and infectious disease: new tools, insights and translational opportunities

scientific article published on 04 December 2020

Identification of LZTFL1 as a candidate effector gene at a COVID-19 risk locus

artículo científico publicado en 2021

Identification of a novel beta-cell glucokinase (GCK) promoter mutation (-71G>C) that modulates GCK gene expression through loss of allele-specific Sp1 binding causing mild fasting hyperglycemia in humans

artículo científico publicado en 2009

Implementation of a genomic medicine multi-disciplinary team approach for rare disease in the clinical setting: a prospective exome sequencing case series

scientific article published on 25 July 2019

In vivo characterization of regulatory polymorphisms by allele-specific quantification of RNA polymerase loading

artículo científico publicado en 2003

Increased in vivo transcription of an IL-8 haplotype associated with respiratory syncytial virus disease-susceptibility.

artículo científico publicado en 2004

Increased prevalence of sex chromosome aneuploidies in specific language impairment and dyslexia

artículo científico publicado en 2013

Inherited variability of tumor necrosis factor production and susceptibility to infectious disease.

artículo científico publicado en 1999

Innate immune activity conditions the effect of regulatory variants upon monocyte gene expression

artículo científico publicado en 2014

Insights from early experience of a Rare Disease Genomic Medicine Multidisciplinary Team: a qualitative study

artículo científico publicado en 2017

Insights into the nature and consequences of our variable genome

artículo científico publicado en 2009

Investigation of a possible extended risk haplotype in the IL23R region associated with ankylosing spondylitis.

artículo científico publicado en 2017

Joint sequencing of human and pathogen genomes reveals the genetics of pneumococcal meningitis

scholarly article

Joint sequencing of human and pathogen genomes reveals the genetics of pneumococcal meningitis

artículo científico publicado en 2019

Leprosy and the adaptation of human toll-like receptor 1.

artículo científico publicado en 2010

Major histocompatibility complex genomics and human disease

artículo científico publicado en 2013

Metal-Dependent Reactivity of Electrophilic Platinum Group Metal Lewis Acid Catalysts: Competitive Alkene Dimerization, Intramolecular Friedel−Crafts Alkylation, and Carbonyl-Ene Reactivity

article

Microvesicle Subsets in Sepsis Due to Community Acquired Pneumonia Compared to Faecal Peritonitis

artículo científico publicado en 2017

Modular Synthesis of a New Class of Bis(amino-oxazoline) Using Palladium-Catalyzed Buchwald−Hartwig Amination Methodology

article

Origins of magic: review of genetic and epigenetic effects

artículo científico publicado en 2007

Oxazoline-Substituted Prolinamide-Based Organocatalysts for the Direct Intermolecular Aldol Reaction between Cyclohexanone and Aromatic Aldehydes

Peripheral CD8+ T cell characteristics associated with durable responses to immune checkpoint blockade in patients with metastatic melanoma

artículo científico publicado en 2020

Pervasive haplotypic variation in the spliceo-transcriptome of the human major histocompatibility complex

artículo científico publicado en 2011

Preclinical target validation using patient-derived cells

artículo científico publicado en 2015

Regulatory polymorphisms underlying complex disease traits

artículo científico publicado en 2004

Resolving the variable genome and epigenome in human disease.

artículo científico publicado en 2012

Rhodium-Catalyzed Double [2 + 2 + 2] Cycloaddition of 1,4-Bis(diphenylphosphinoyl)buta-1,3-diyne with Tethered Diynes: A Modular, Highly Versatile Single-Pot Synthesis of NU-BIPHEP Biaryl Diphosphines

article

Ruthenium Complexes of Six-Electron-Donor NUPHOS-Type Diphosphines: Highly Selective Catalysts for the Hydrocarboxylation of Terminal Alkynes

article

Severe malarial anemia and cerebral malaria are associated with different tumor necrosis factor promoter alleles

artículo científico publicado en 1999

Shared and Distinct Aspects of the Sepsis Transcriptomic Response to Fecal Peritonitis and Pneumonia.

artículo científico publicado en 2016

Systematic identification of trans eQTLs as putative drivers of known disease associations

artículo científico publicado en 2013

The Polygenic and Monogenic Basis of Blood Traits and Diseases

artículo científico publicado en 2020

The Role of Micrornas in The Development of Hospital Acquired Infection in Polytrauma Patients.

artículo científico publicado en 2015

The association between endometriosis and autoimmune diseases: a systematic review and meta-analysis

scientific article published on 01 July 2019

The chromosome 6p22 haplotype associated with dyslexia reduces the expression of KIAA0319, a novel gene involved in neuronal migration

artículo científico publicado en 2006

The genetic association of RUNX3 with ankylosing spondylitis can be explained by allele-specific effects on IRF4 recruitment that alter gene expression.

scientific article published on 09 October 2015

The human Major Histocompatibility Complex as a paradigm in genomics research

artículo científico publicado en 2009

The malarial fever response--pathogenesis, polymorphism and prospects for intervention.

artículo científico publicado en 1997

Transcriptional repression and DNA looping associated with a novel regulatory element in the final exon of the lymphotoxin-β gene

artículo científico publicado en 2011

Transcriptomic Analysis of Inflammatory Cardiomyopathy Identifies Molecular Signatures of Disease and Informs <i>in silico</i> Prediction of a Network-Based Rationale for Therapy

artículo científico publicado en 2021

Transcriptomic Signatures in Sepsis and a Differential Response to Steroids: From the VANISH Randomized Trial

scientific article published on 01 April 2019

Transcriptomic profiling facilitates classification of response to influenza challenge

artículo científico publicado en 2014

Translating GWAS in rheumatic disease: approaches to establishing mechanism and function for genetic associations with ankylosing spondylitis

Understanding human genetic variation in the era of high‐throughput sequencing ⬇️

artículo científico publicado el 20 de agosto de 2010

Unique transcriptome signatures and GM-CSF expression in lymphocytes from patients with spondyloarthritis.

artículo científico publicado en 2017

Using de novo assembly to identify structural variation of eight complex immune system gene regions

artículo científico publicado en 2021

Vitamin D receptor gene methylation is associated with ethnicity, tuberculosis, and TaqI polymorphism

artículo científico publicado en 2010

XGR software for enhanced interpretation of genomic summary data, illustrated by application to immunological traits.

artículo científico publicado en 2016

miR-10b-5p is a novel Th17 regulator present in Th17 cells from ankylosing spondylitis.

artículo científico publicado en 2016

Lista de obras de Julian C Knight

"Not pathogenic until proven otherwise": perspectives of UK clinical genomics professionals toward secondary findings in context of a Genomic Medicine Multidisciplinary Team and the 100,000 Genomes Project.

A ChIP-seq defined genome-wide map of vitamin D receptor binding: associations with disease and evolution

A common haplotype of the TNF receptor 2 gene modulates endotoxin tolerance

A common variant associated with dyslexia reduces expression of the KIAA0319 gene

A community approach to mortality prediction in sepsis via gene expression analysis.

A functional AT/G polymorphism in the 5'-untranslated region of SETDB2 in the IgE locus on human chromosome 13q14

A genetics-led approach defines the drug target landscape of 30 immune-related traits

A polymorphism that affects OCT-1 binding to the TNF promoter region is associated with severe malaria

Accuracy of genotyping of single-nucleotide polymorphisms by PCR-ELISA allele-specific oligonucleotide hybridization typing and by amplification refractory mutation system

Allele-specific repression of lymphotoxin-alpha by activated B cell factor-1

Allele-specific transcription of the asthma-associated PHD finger protein 11 gene (PHF11) modulated by octamer-binding transcription factor 1 (Oct-1).

AltHapAlignR: improved accuracy of RNA-seq analyses through the use of alternative haplotypes

An allele-specific gene expression assay to test the functional basis of genetic associations

An ankylosing spondylitis-associated genetic variant in the IL23R-IL12RB2 intergenic region modulates enhancer activity and is associated with increased Th1-cell differentiation

An integrated approach to defining genetic and environmental determinants for major clinical outcomes involving vitamin D.

An integrated expression phenotype mapping approach defines common variants in LEP, ALOX15 and CAPNS1 associated with induction of IL-6

Analysis of allele-specific gene expression

Antibody testing for COVID-19: A report from the National COVID Scientific Advisory Panel

Application of whole genome and RNA sequencing to investigate the genomic landscape of common variable immunodeficiency disorders

Approaches for establishing the function of regulatory genetic variants involved in disease

Associations of HLA alleles with specific language impairment

Asymmetric Hydrogenation of Ketones with Ruthenium Complexes ofrac- and Enantiopure (S,S)-1,2-Bis((diphenylphosphino)methyl)cyclohexane: A Comparative Study withrac- and (R)-BINAP

Asymmetric platinum group metal-catalyzed carbonyl-ene reactions: carbon-carbon bond formation versus isomerization.

Biaryl-Like CATPHOS Diphosphines via Double Diels–Alder Cycloaddition between 1,4-Bis(diphenylphosphinoyl)buta-1,3-diyne and Anthracenes: Efficient Ligands for the Palladium-Catalyzed Amination of Aromatic Bromides and α-Arylation of Ketones

Cell Specific eQTL Analysis without Sorting Cells

Characterisation of the global transcriptional response to heat shock and the impact of individual genetic variation

Chromatin profiling across the human tumour necrosis factor gene locus reveals a complex, cell type-specific landscape with novel regulatory elements

Chronic mucocutaneous candidiasis: characterization of a family with STAT-1 gain-of-function and development of an ex-vivo assay for Th17 deficiency of diagnostic utility

Complex NF-kappaB interactions at the distal tumor necrosis factor promoter region in human monocytes.

Context-specific regulation of surface and soluble IL7R expression by an autoimmune risk allele

Distinct HLA associations of LGI1 and CASPR2-antibody diseases.

Distinct Transcriptional and Anti-Mycobacterial Profiles of Peripheral Blood Monocytes Dependent on the Ratio of Monocytes: Lymphocytes

Early-onset autoimmunity associated with SOCS1 haploinsufficiency

Efficient Asymmetric Carbonyl-Ene Reactions Catalyzed by Platinum Metal Lewis Acid Complexes of Conformationally Flexible NUPHOS Diphosphines: A Comparison with BINAP

Efficient Cycloisomerization of Propargyl Amides by Electrophilic Gold(I) Complexes of KITPHOS Monophosphines: A Comparative Study

Electron-Rich Trialkyl-Type Dihydro-KITPHOS Monophosphines: Efficient Ligands for Palladium-Catalyzed Suzuki–Miyaura Cross-Coupling. Comparison with Their Biaryl-Like KITPHOS Monophosphine Counterparts

Elevated risk of invasive group A streptococcal disease and host genetic variation in the human leucocyte antigen locus

Enhanced understanding of the host-pathogen interaction in sepsis: new opportunities for omic approaches.

Evidence for a second ankylosing spondylitis-associated RUNX3 regulatory polymorphism.

Expression of the multiple sclerosis-associated MHC class II Allele HLA-DRB1*1501 is regulated by vitamin D.

Factors influencing success of clinical genome sequencing across a broad spectrum of disorders

Fine mapping genetic determinants of the highly variably expressed MHC gene ZFP57.

Functional implications of genetic variation in non-coding DNA for disease susceptibility and gene regulation

Genetic association analyses implicate aberrant regulation of innate and adaptive immunity genes in the pathogenesis of systemic lupus erythematosus.

Genetic determinants of HSP70 gene expression following heat shock

Genetic mechanisms of critical illness in Covid-19

Genetic variants associated with non-typhoidal Salmonella bacteraemia in African children.

Genetics of gene expression in immunity to infection

Genetics of gene expression in primary immune cells identifies cell type-specific master regulators and roles of HLA alleles

Genome-wide analysis identifies a role for common copy number variants in specific language impairment

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

Genomic Response to Vitamin D Supplementation in the Setting of a Randomized, Placebo-Controlled Trial.

Genomic landscape of the individual host response and outcomes in sepsis: a prospective cohort study

Genomic mapping of the MHC transactivator CIITA using an integrated ChIP-seq and genetical genomics approach

Genomic modulators of gene expression in human neutrophils

Genomic modulators of the immune response

HLA class I alleles tag HLA-DRB1*1501 haplotypes for differential risk in multiple sclerosis susceptibility

HLA-C Level Is Regulated by a Polymorphic Oct1 Binding Site in the HLA-C Promoter Region.

High resolution HLA haplotyping by imputation for a British population bioresource

Host genetics and infectious disease: new tools, insights and translational opportunities

Identification of LZTFL1 as a candidate effector gene at a COVID-19 risk locus

Identification of a novel beta-cell glucokinase (GCK) promoter mutation (-71G>C) that modulates GCK gene expression through loss of allele-specific Sp1 binding causing mild fasting hyperglycemia in humans

Implementation of a genomic medicine multi-disciplinary team approach for rare disease in the clinical setting: a prospective exome sequencing case series

In vivo characterization of regulatory polymorphisms by allele-specific quantification of RNA polymerase loading

Increased in vivo transcription of an IL-8 haplotype associated with respiratory syncytial virus disease-susceptibility.

Increased prevalence of sex chromosome aneuploidies in specific language impairment and dyslexia

Inherited variability of tumor necrosis factor production and susceptibility to infectious disease.

Innate immune activity conditions the effect of regulatory variants upon monocyte gene expression

Insights from early experience of a Rare Disease Genomic Medicine Multidisciplinary Team: a qualitative study

Insights into the nature and consequences of our variable genome

Investigation of a possible extended risk haplotype in the IL23R region associated with ankylosing spondylitis.

Joint sequencing of human and pathogen genomes reveals the genetics of pneumococcal meningitis

Joint sequencing of human and pathogen genomes reveals the genetics of pneumococcal meningitis

Leprosy and the adaptation of human toll-like receptor 1.

Major histocompatibility complex genomics and human disease

Metal-Dependent Reactivity of Electrophilic Platinum Group Metal Lewis Acid Catalysts: Competitive Alkene Dimerization, Intramolecular Friedel−Crafts Alkylation, and Carbonyl-Ene Reactivity

Microvesicle Subsets in Sepsis Due to Community Acquired Pneumonia Compared to Faecal Peritonitis

Modular Synthesis of a New Class of Bis(amino-oxazoline) Using Palladium-Catalyzed Buchwald−Hartwig Amination Methodology

Origins of magic: review of genetic and epigenetic effects