Lista de obras - Simon J McGowan - Dominio Público Uruguay

A Comprehensive Analysis of Key Immune Checkpoint Receptors on Tumor-Infiltrating T Cells From Multiple Types of Cancer

artículo científico publicado en 2019

A Recurrent Mosaic Mutation in SMO, Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones Syndrome.

artículo científico publicado en 2016

A biallelic mutation in IL6ST encoding the GP130 co-receptor causes immunodeficiency and craniosynostosis

artículo científico publicado en 2017

A noncoding expansion in EIF4A3 causes Richieri-Costa-Pereira syndrome, a craniofacial disorder associated with limb defects

artículo científico publicado en 2014

Activating mutations in FGFR3 and HRAS reveal a shared genetic origin for congenital disorders and testicular tumors

artículo científico publicado en 2009

Analysis of bacterial carbapenem antibiotic production genes reveals a novel β-lactam biosynthesis pathway.

artículo científico publicado en 1996

Analysis of hundreds of cis-regulatory landscapes at high resolution in a single, high-throughput experiment.

artículo científico publicado en 2014

Analysis of the carbapenem gene cluster of Erwinia carotovora: definition of the antibiotic biosynthetic genes and evidence for a novel beta-lactam resistance mechanism.

artículo científico publicado en 1997

Ankylosing spondylitis monocytes show upregulation of proteins involved in inflammation and the ubiquitin proteasome pathway.

artículo científico publicado en 2008

Bacterial N-acyl-homoserine-lactone-dependent signalling and its potential biotechnological applications.

artículo científico publicado en 1997

Bacterial production of carbapenems and clavams: evolution of beta-lactam antibiotic pathways

artículo científico publicado en 1998

Biosynthesis of carbapenem antibiotic and prodigiosin pigment in Serratia is under quorum sensing control

artículo científico publicado en 2000

CPFP: a central proteomics facilities pipeline

artículo científico publicado en 2010

Carbapenem antibiotic biosynthesis in Erwinia carotovora is regulated by physiological and genetic factors modulating the quorum sensing-dependent control pathway

artículo científico publicado en 2005

Carbapenem antibiotic production in Erwinia carotovora is regulated by CarR, a homologue of the LuxR transcriptional activator

artículo científico publicado en 1995

Carbonic anhydrase IX induction defines a heterogeneous cancer cell response to hypoxia and mediates stem cell-like properties and sensitivity to HDAC inhibition

artículo científico publicado en 2015

Cardamine hirsuta: a versatile genetic system for comparative studies.

artículo científico publicado en 2014

Cardiac iron overload in transfusion-dependent patients with myelodysplastic syndromes

artículo científico publicado en 2011

Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotes

artículo científico publicado en 2013

Combinatorial HLA-peptide bead libraries for high throughput identification of CD8⁺ T cell specificity

artículo científico publicado en 2013

Congenital myasthenic syndromes due to mutations in ALG2 and ALG14.

artículo científico publicado en 2013

Contributions of intrinsic mutation rate and selfish selection to levels of de novo HRAS mutations in the paternal germline

artículo científico publicado en 2013

Cryptic carbapenem antibiotic production genes are widespread in Erwinia carotovora: facile trans activation by the carR transcriptional regulator

artículo científico publicado en 1998

De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder.

artículo científico publicado en 2018

De novo and rare inherited mutations implicate the transcriptional coregulator TCF20/SPBP in autism spectrum disorder.

artículo científico publicado en 2014

Diagnostic value of exome and whole genome sequencing in craniosynostosis

artículo científico publicado en 2016

Disruption of TWIST1 translation by 5' UTR variants in Saethre-Chotzen syndrome

artículo científico publicado en 2018

Dynamic analysis of gene expression and genome-wide transcription factor binding during lineage specification of multipotent progenitors

artículo científico publicado en 2013

Erwinia carotovora has two KdgR-like proteins belonging to the IciR family of transcriptional regulators: identification and characterization of the RexZ activator and the KdgR repressor of pathogenesis.

artículo científico publicado en 1999

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

artículo científico publicado en 2015

GATA1-mutant clones are frequent and often unsuspected in babies with Down syndrome: identification of a population at risk of leukemia

scientific article published on 10 September 2013

Gain-of-Function Mutations in ZIC1 Are Associated with Coronal Craniosynostosis and Learning Disability

artículo científico publicado en 2015

Gene set analysis of lung samples provides insight into pathogenesis of progressive, fibrotic pulmonary sarcoidosis.

artículo científico

Genome-wide identification of TAL1's functional targets: insights into its mechanisms of action in primary erythroid cells

artículo científico publicado en 2010

Germinal Center B Cells Replace Their Antigen Receptors in Dark Zones and Fail Light Zone Entry when Immunoglobulin Gene Mutations are Damaging

article

Global gene expression analysis of human erythroid progenitors

artículo científico publicado en 2011

High-resolution analysis of cis-acting regulatory networks at the α-globin locus

artículo científico publicado en 2013

Homozygous mutations in a predicted endonuclease are a novel cause of congenital dyserythropoietic anemia type I

artículo científico publicado en 2013

Identification of Intragenic Exon Deletions and Duplication of TCF12 by Whole Genome or Targeted Sequencing as a Cause of TCF12-Related Craniosynostosis.

artículo científico publicado en 2016

Identification of serotype-specific T cell responses to highly conserved regions of the dengue viruses

artículo científico publicado en 2012

Intragenic enhancers act as alternative promoters

artículo científico publicado en 2012

Light-induced carotenogenesis in Myxococcus xanthus: DNA sequence analysis of the carR region.

artículo científico publicado en 1993

Light-induced carotenogenesis in Myxococcus xanthus: light-dependent membrane sequestration of ECF sigma factor CarQ by anti-sigma factor CarR.

artículo científico publicado en 1996

Localized TWIST1 and TWIST2 basic domain substitutions cause four distinct human diseases that can be modeled in Caenorhabditis elegans

artículo científico publicado en 2017

MIG: Multi-Image Genome viewer

artículo científico publicado en 2013

Majeed syndrome: description of a novel mutation and therapeutic response to bisphosphonates and IL-1 blockade with anakinra

scientific article published on 01 February 2020

Many expressed genes in bacteria and yeast are transcribed only once per cell cycle.

artículo científico publicado en 2006

Molecular genetics of carbapenem antibiotic biosynthesis.

artículo científico publicado en 1999

Multiplexed analysis of chromosome conformation at vastly improved sensitivity

artículo científico publicado en 2015

Mutations in CDC45, Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis

scientific article published on 29 June 2016

Mutations in DPAGT1 cause a limb-girdle congenital myasthenic syndrome with tubular aggregates

artículo científico publicado en 2012

Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies

artículo científico publicado en 2015

Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis

artículo científico publicado en 2013

Mutations in multidomain protein MEGF8 identify a Carpenter syndrome subtype associated with defective lateralization

artículo científico publicado en 2012

N-acyl homoserine lactone binding to the CarR receptor determines quorum-sensing specificity in Erwinia.

artículo científico

Quantitative phosphoproteome analysis unveils LAT as a modulator of CD3ζ and ZAP-70 tyrosine phosphorylation

artículo científico publicado en 2013

Reduced dosage of ERF causes complex craniosynostosis in humans and mice and links ERK1/2 signaling to regulation of osteogenesis

artículo científico publicado en 2013

Replication error deficient and proficient colorectal cancer gene expression differences caused by 3'UTR polyT sequence deletions

artículo científico publicado en 2010

Sasquatch: predicting the impact of regulatory SNPs on transcription factor binding from cell- and tissue-specific DNase footprints.

artículo científico publicado en 2017

Self-Organization and Regulation of Intrinsically Disordered Proteins with Folded N-Termini ⬇️

artículo científico publicado el 15 de febrero de 2011

Sequencing Metrics of Human Genomes Extracted from Single Cancer Cells Individually Isolated in a Valveless Microfluidic Device

Sequencing of human genomes extracted from single cancer cells isolated in a valveless microfluidic device

artículo científico publicado en 2018

T Cell Receptor (TCR)-induced Tyrosine Phosphorylation Dynamics Identifies THEMIS as a New TCR Signalosome Component ⬇️

artículo científico publicado el 28 de diciembre de 2010

The repertoire of minimal mobile elements in the Neisseria species and evidence that these are involved in horizontal gene transfer in other bacteria

artículo científico publicado en 2007

The small FNR regulon of Neisseria gonorrhoeae: comparison with the larger Escherichia coli FNR regulon and interaction with the NarQ-NarP regulon

artículo científico publicado en 2007

Ubiquitin-mediated fluctuations in MHC class II facilitate efficient germinal center B cell responses

artículo científico publicado en 2016

Understanding functional miRNA-target interactions in vivo by site-specific genome engineering.

artículo científico publicado en 2014

Unravelling Intratumoral Heterogeneity through High-Sensitivity Single-Cell Mutational Analysis and Parallel RNA Sequencing

artículo científico publicado en 2019

Visualizing the origins of selfish de novo mutations in individual seminiferous tubules of human testes.

artículo científico publicado en 2016

Lista de obras de Simon J McGowan

A Comprehensive Analysis of Key Immune Checkpoint Receptors on Tumor-Infiltrating T Cells From Multiple Types of Cancer

A Recurrent Mosaic Mutation in SMO, Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones Syndrome.

A biallelic mutation in IL6ST encoding the GP130 co-receptor causes immunodeficiency and craniosynostosis

A noncoding expansion in EIF4A3 causes Richieri-Costa-Pereira syndrome, a craniofacial disorder associated with limb defects

Activating mutations in FGFR3 and HRAS reveal a shared genetic origin for congenital disorders and testicular tumors

Analysis of bacterial carbapenem antibiotic production genes reveals a novel β-lactam biosynthesis pathway.

Analysis of hundreds of cis-regulatory landscapes at high resolution in a single, high-throughput experiment.

Analysis of the carbapenem gene cluster of Erwinia carotovora: definition of the antibiotic biosynthetic genes and evidence for a novel beta-lactam resistance mechanism.

Ankylosing spondylitis monocytes show upregulation of proteins involved in inflammation and the ubiquitin proteasome pathway.

Bacterial N-acyl-homoserine-lactone-dependent signalling and its potential biotechnological applications.

Bacterial production of carbapenems and clavams: evolution of beta-lactam antibiotic pathways

Biosynthesis of carbapenem antibiotic and prodigiosin pigment in Serratia is under quorum sensing control

CPFP: a central proteomics facilities pipeline

Carbapenem antibiotic biosynthesis in Erwinia carotovora is regulated by physiological and genetic factors modulating the quorum sensing-dependent control pathway

Carbapenem antibiotic production in Erwinia carotovora is regulated by CarR, a homologue of the LuxR transcriptional activator

Carbonic anhydrase IX induction defines a heterogeneous cancer cell response to hypoxia and mediates stem cell-like properties and sensitivity to HDAC inhibition

Cardamine hirsuta: a versatile genetic system for comparative studies.

Cardiac iron overload in transfusion-dependent patients with myelodysplastic syndromes

Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotes

Combinatorial HLA-peptide bead libraries for high throughput identification of CD8⁺ T cell specificity

Congenital myasthenic syndromes due to mutations in ALG2 and ALG14.

Contributions of intrinsic mutation rate and selfish selection to levels of de novo HRAS mutations in the paternal germline

Cryptic carbapenem antibiotic production genes are widespread in Erwinia carotovora: facile trans activation by the carR transcriptional regulator

De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder.

De novo and rare inherited mutations implicate the transcriptional coregulator TCF20/SPBP in autism spectrum disorder.

Diagnostic value of exome and whole genome sequencing in craniosynostosis

Disruption of TWIST1 translation by 5' UTR variants in Saethre-Chotzen syndrome

Dynamic analysis of gene expression and genome-wide transcription factor binding during lineage specification of multipotent progenitors

Erwinia carotovora has two KdgR-like proteins belonging to the IciR family of transcriptional regulators: identification and characterization of the RexZ activator and the KdgR repressor of pathogenesis.

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

GATA1-mutant clones are frequent and often unsuspected in babies with Down syndrome: identification of a population at risk of leukemia

Gain-of-Function Mutations in ZIC1 Are Associated with Coronal Craniosynostosis and Learning Disability

Gene set analysis of lung samples provides insight into pathogenesis of progressive, fibrotic pulmonary sarcoidosis.

Genome-wide identification of TAL1's functional targets: insights into its mechanisms of action in primary erythroid cells

Germinal Center B Cells Replace Their Antigen Receptors in Dark Zones and Fail Light Zone Entry when Immunoglobulin Gene Mutations are Damaging

Global gene expression analysis of human erythroid progenitors

High-resolution analysis of cis-acting regulatory networks at the α-globin locus

Homozygous mutations in a predicted endonuclease are a novel cause of congenital dyserythropoietic anemia type I

Identification of Intragenic Exon Deletions and Duplication of TCF12 by Whole Genome or Targeted Sequencing as a Cause of TCF12-Related Craniosynostosis.

Identification of serotype-specific T cell responses to highly conserved regions of the dengue viruses

Intragenic enhancers act as alternative promoters

Light-induced carotenogenesis in Myxococcus xanthus: DNA sequence analysis of the carR region.

Light-induced carotenogenesis in Myxococcus xanthus: light-dependent membrane sequestration of ECF sigma factor CarQ by anti-sigma factor CarR.

Localized TWIST1 and TWIST2 basic domain substitutions cause four distinct human diseases that can be modeled in Caenorhabditis elegans

MIG: Multi-Image Genome viewer

Majeed syndrome: description of a novel mutation and therapeutic response to bisphosphonates and IL-1 blockade with anakinra

Many expressed genes in bacteria and yeast are transcribed only once per cell cycle.

Molecular genetics of carbapenem antibiotic biosynthesis.

Multiplexed analysis of chromosome conformation at vastly improved sensitivity

Mutations in CDC45, Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis

Mutations in DPAGT1 cause a limb-girdle congenital myasthenic syndrome with tubular aggregates

Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies

Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis

Mutations in multidomain protein MEGF8 identify a Carpenter syndrome subtype associated with defective lateralization

N-acyl homoserine lactone binding to the CarR receptor determines quorum-sensing specificity in Erwinia.

Quantitative phosphoproteome analysis unveils LAT as a modulator of CD3ζ and ZAP-70 tyrosine phosphorylation

Reduced dosage of ERF causes complex craniosynostosis in humans and mice and links ERK1/2 signaling to regulation of osteogenesis

Replication error deficient and proficient colorectal cancer gene expression differences caused by 3'UTR polyT sequence deletions

Sasquatch: predicting the impact of regulatory SNPs on transcription factor binding from cell- and tissue-specific DNase footprints.

Self-Organization and Regulation of Intrinsically Disordered Proteins with Folded N-Termini ⬇️

Sequencing Metrics of Human Genomes Extracted from Single Cancer Cells Individually Isolated in a Valveless Microfluidic Device

Sequencing of human genomes extracted from single cancer cells isolated in a valveless microfluidic device

T Cell Receptor (TCR)-induced Tyrosine Phosphorylation Dynamics Identifies THEMIS as a New TCR Signalosome Component ⬇️

The repertoire of minimal mobile elements in the Neisseria species and evidence that these are involved in horizontal gene transfer in other bacteria

The small FNR regulon of Neisseria gonorrhoeae: comparison with the larger Escherichia coli FNR regulon and interaction with the NarQ-NarP regulon

Ubiquitin-mediated fluctuations in MHC class II facilitate efficient germinal center B cell responses

Understanding functional miRNA-target interactions in vivo by site-specific genome engineering.

Unravelling Intratumoral Heterogeneity through High-Sensitivity Single-Cell Mutational Analysis and Parallel RNA Sequencing

Visualizing the origins of selfish de novo mutations in individual seminiferous tubules of human testes.