Lista de obras - Mark J. Cowley - Dominio Público Uruguay

A De Novo Mutation in the Sodium-Activated Potassium Channel KCNT2 Alters Ion Selectivity and Causes Epileptic Encephalopathy

artículo científico publicado en 2017

A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures

artículo científico publicado en 2018

A Novel Orthotopic Patient-Derived Xenograft Model of Radiation-Induced Glioma Following Medulloblastoma

artículo científico publicado en 2020

A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb Malformations

artículo científico publicado en 2017

A SLC39A8 variant causes manganese deficiency, and glycosylation and mitochondrial disorders.

artículo científico publicado en 2016

A preexistent hypoxic gene signature predicts impaired islet graft function and glucose homeostasis

artículo científico publicado en 2012

A sustained dietary change increases epigenetic variation in isogenic mice

artículo científico publicado en 2011

Analysis of clinically relevant somatic mutations in high-risk head and neck cutaneous squamous cell carcinoma.

artículo científico publicado en 2017

Application of Genome Sequencing from Blood to Diagnose Mitochondrial Diseases

artículo científico publicado en 2021

Asparagine Synthetase Deficiency causes reduced proliferation of cells under conditions of limited asparagine.

artículo científico publicado en 2015

BCL-2 hypermethylation is a potential biomarker of sensitivity to antimitotic chemotherapy in endocrine-resistant breast cancer

artículo científico publicado en 2013

Beyond the panel: preconception screening in consanguineous couples using the TruSight One "clinical exome"

artículo científico publicado en 2018

Biparental inheritance of mitochondrial DNA in humans is not a common phenomenon

scientific article published on 07 June 2019

Brief Report: Potent clinical and radiological response to larotrectinib in TRK fusion-driven high-grade glioma

artículo científico publicado en 2018

Cancer-associated noncoding mutations affect RNA G-quadruplex-mediated regulation of gene expression

artículo científico publicado en 2017

Cell and molecular determinants of in vivo efficacy of the BH3 mimetic ABT-263 against pediatric acute lymphoblastic leukemia xenografts

artículo científico publicado en 2014

Clinical Spectrum and Functional Consequences Associated with Bi-Allelic Pathogenic PNPT1 Variants

artículo científico publicado en 2019

Clinical and molecular characterization of HER2 amplified-pancreatic cancer.

artículo científico publicado en 2013

Clinical and pathologic features of familial pancreatic cancer

artículo científico publicado en 2014

Clonal expansions of cytotoxic T cells exist in the blood of patients with Waldenstrom macroglobulinemia but exhibit anergic properties and are eliminated by nucleoside analogue therapy

artículo científico publicado en 2010

Cold adaptation in the marine bacterium, Sphingopyxis alaskensis, assessed using quantitative proteomics

artículo científico publicado en 2010

Consolidation of the cancer genome into domains of repressive chromatin by long-range epigenetic silencing (LRES) reduces transcriptional plasticity

artículo científico publicado en 2010

Cryptic intronic NBAS variant reveals the genetic basis of recurrent liver failure in a child

artículo científico publicado en 2018

Deep multi-region whole-genome sequencing reveals heterogeneity and gene-by-environment interactions in treatment-naive, metastatic lung cancer

article

Defining the genetic basis of early onset hereditary spastic paraplegia using whole genome sequencing

artículo científico publicado en 2016

Denisovan, modern human and mouse TNFAIP3 alleles tune A20 phosphorylation and immunity

scientific article published on 18 September 2019

Detection of growth hormone doping by gene expression profiling of peripheral blood.

artículo científico publicado en 2009

Differential regulation of the Let-7 family of microRNAs in CD4+ T cells alters IL-10 expression.

artículo científico publicado en 2012

ELF5 suppresses estrogen sensitivity and underpins the acquisition of antiestrogen resistance in luminal breast cancer.

artículo científico publicado en 2012

EPG5-Related Vici Syndrome: A Primary Defect of Autophagic Regulation with an Emerging Phenotype Overlapping with Mitochondrial Disorders

artículo científico publicado en 2017

Evaluation of Streck BCT and PAXgene Stabilised Blood Collection Tubes for Cell-Free Circulating DNA Studies in Plasma.

artículo científico publicado en 2017

Expanding the spectrum of PEX16 mutations and novel insights into disease mechanisms

scientific article published on 20 July 2018

Expression of pro- and antiapoptotic molecules of the Bcl-2 family in human islets postisolation

artículo científico publicado en 2011

Extracellular matrix composition significantly influences pancreatic stellate cell gene expression pattern: role of transgelin in PSC function

artículo científico publicado en 2013

Fatal perinatal mitochondrial cardiac failure caused by recurrent de novo duplications in the ATAD3 locus

artículo científico publicado en 2020

Gene-expression profiling of gram-positive and gram-negative sepsis in critically ill patients.

artículo científico publicado en 2008

Genetic dissection of gene regulation in multiple mouse tissues.

artículo científico publicado en 2006

Genome sequencing as a first-line genetic test in familial dilated cardiomyopathy

artículo científico publicado en 2018

Genome-wide DNA methylation patterns in pancreatic ductal adenocarcinoma reveal epigenetic deregulation of SLIT-ROBO, ITGA2 and MET signaling.

artículo científico publicado en 2014

Genomic analyses identify molecular subtypes of pancreatic cancer

artículo científico publicado en 2016

Germline variants in familial pituitary tumour syndrome genes are common in young patients and families with additional endocrine tumours

artículo científico publicado en 2017

Glutamine addiction promotes glucose oxidation in triple-negative breast cancer

artículo científico publicado en 2022

Gonadal mosaicism of a novel IQSEC2 variant causing female limited intellectual disability and epilepsy.

artículo científico publicado en 2017

High Degree of Genetic Heterogeneity for Hereditary Cerebellar Ataxias in Australia

scientific article published on 01 February 2019

Histomolecular phenotypes and outcome in adenocarcinoma of the ampulla of vater

artículo científico publicado en 2013

Human islets express a marked proinflammatory molecular signature prior to transplantation.

artículo científico publicado en 2012

Hypermutation In Pancreatic Cancer

artículo científico publicado en 2016

Identification of Novel GH-Regulated Pathway of Lipid Metabolism in Adipose Tissue: A Gene Expression Study in Hypopituitary Men

article

Impaired B cell development in the absence of Krüppel-like factor 3.

artículo científico publicado en 2011

Improved Diagnosis and Care for Rare Diseases through Implementation of Precision Public Health Framework

artículo científico publicado en 2017

Infant high grade gliomas comprise multiple subgroups characterized by novel targetable gene fusions and favorable outcomes

scientific article published on 01 April 2020

Influence of atrial fibrillation on microRNA expression profiles in left and right atria from patients with valvular heart disease.

artículo científico publicado en 2011

Inheritance of coronary artery disease in men: an analysis of the role of the Y chromosome

artículo científico publicado en 2012

Integrating exome sequencing into a diagnostic pathway for epileptic encephalopathy: Evidence of clinical utility and cost effectiveness.

artículo científico publicado en 2018

Integration of genomics, high throughput drug screening, and personalized xenograft models as a novel precision medicine paradigm for high risk pediatric cancer

scientific article published on 09 October 2018

Intra- and inter-individual genetic differences in gene expression

artículo científico publicado en 2009

JRK is a positive regulator of β-catenin transcriptional activity commonly overexpressed in colon, breast and ovarian cancer

artículo científico publicado en 2015

MTOR signaling orchestrates stress-induced mutagenesis, facilitating adaptive evolution in cancer

scientific article published on 01 June 2020

Maternal obesity and diabetes induces latent metabolic defects and widespread epigenetic changes in isogenic mice

scientific article published on 26 April 2013

MicroRNA profiling of the pubertal mouse mammary gland identifies miR-184 as a candidate breast tumour suppressor gene

artículo científico publicado en 2015

Mitochondrial CoQ deficiency is a common driver of mitochondrial oxidants and insulin resistance.

artículo científico publicado en 2018

Mutation allele burden remains unchanged in chronic myelomonocytic leukaemia responding to hypomethylating agents

artículo científico publicado en 2016

Neuropilin-2 promotes extravasation and metastasis by interacting with endothelial α5 integrin

artículo científico publicado en 2013

Next-Generation Sequencing and Emerging Technologies

scientific article published on 16 May 2019

Normalization and statistical analysis of quantitative proteomics data generated by metabolic labeling

artículo científico publicado en 2009

Normalization procedures and detection of linkage signal in genetical-genomics experiments

artículo científico publicado en 2006

Oral malignant gastrointestinal neuroectodermal tumour with junctional component mimicking mucosal melanoma

artículo científico publicado en 2018

PINA v2.0: mining interactome modules.

artículo científico publicado en 2011

Pancreatic cancer genomes reveal aberrations in axon guidance pathway genes

artículo científico publicado en 2012

Population data improves variant interpretation in autosomal dominant polycystic kidney disease

artículo científico publicado en 2018

Proteomic comparison of colorectal tumours and non-neoplastic mucosa from paired patient samples using iTRAQ mass spectrometry.

artículo científico

RON is not a prognostic marker for resectable pancreatic cancer

artículo científico publicado en 2012

Reanalysis and optimisation of bioinformatic pipelines is critical for mutation detection

artículo científico publicado en 2019

Recurrent SPECC1L-NTRK fusions in paediatric sarcoma and brain tumours

artículo científico publicado en 2020

Response to Brodehl et al

scientific article published on 28 September 2018

Reversible Suppression of Lymphoproliferation and Thrombocytopenia with Rapamycin in a Patient with Common Variable Immunodeficiency

artículo científico publicado en 2018

SOX9 regulates ERBB signalling in pancreatic cancer development.

artículo científico publicado en 2014

Seave: a comprehensive web platform for storing and interrogating human genomic variation

artículo científico publicado en 2019

SerpinB2 regulates stromal remodelling and local invasion in pancreatic cancer.

artículo científico publicado en 2017

Sirtuin-1 regulates acinar-to-ductal metaplasia and supports cancer cell viability in pancreatic cancer.

artículo científico publicado en 2013

Somatic mutations in salivary duct carcinoma and potential therapeutic targets.

artículo científico publicado en 2017

Somatic point mutation calling in low cellularity tumors.

artículo científico publicado en 2013

Tailored first-line and second-line CDK4-targeting treatment combinations in mouse models of pancreatic cancer

artículo científico publicado en 2017

Targeted therapy of TERT-rearranged neuroblastoma with BET bromodomain inhibitor and proteasome inhibitor combination therapy

artículo científico publicado en 2020

The pseudokinase SgK223 promotes invasion of pancreatic ductal epithelial cells through JAK1/Stat3 signaling

artículo científico publicado en 2015

Understanding pancreatic cancer genomes

artículo científico publicado en 2013

Unique presentation of cutis laxa with Leigh-like syndrome due to ECHS1 deficiency

artículo científico publicado en 2017

Unscrambling cancer genomes via integrated analysis of structural variation and copy number

artículo científico publicado en 2022

Whole Genome Sequencing Improves Outcomes of Genetic Testing in Patients With Hypertrophic Cardiomyopathy

scientific article published on 01 July 2018

Whole genome sequencing provides better diagnostic yield and future value than whole exome sequencing

artículo científico publicado en 2018

Whole genome, transcriptome and methylome profiling enhances actionable target discovery in high-risk pediatric cancer

artículo científico publicado en 2020

Whole genomes redefine the mutational landscape of pancreatic cancer

artículo científico publicado en 2015

Whole-exome sequencing reanalysis at 12 months boosts diagnosis and is cost-effective when applied early in Mendelian disorders.

artículo científico publicado en 2018

Whole-genome landscape of pancreatic neuroendocrine tumours.

artículo científico publicado en 2017

Whole-genome sequencing overcomes pseudogene homology to diagnose autosomal dominant polycystic kidney disease

artículo científico publicado en 2016

c-Myc and Her2 cooperate to drive a stem-like phenotype with poor prognosis in breast cancer.

artículo científico publicado en 2013

qpure: A tool to estimate tumor cellularity from genome-wide single-nucleotide polymorphism profiles

artículo científico publicado en 2012

Lista de obras de Mark J. Cowley

A De Novo Mutation in the Sodium-Activated Potassium Channel KCNT2 Alters Ion Selectivity and Causes Epileptic Encephalopathy

A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures

A Novel Orthotopic Patient-Derived Xenograft Model of Radiation-Induced Glioma Following Medulloblastoma

A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb Malformations

A SLC39A8 variant causes manganese deficiency, and glycosylation and mitochondrial disorders.

A preexistent hypoxic gene signature predicts impaired islet graft function and glucose homeostasis

A sustained dietary change increases epigenetic variation in isogenic mice

Analysis of clinically relevant somatic mutations in high-risk head and neck cutaneous squamous cell carcinoma.

Application of Genome Sequencing from Blood to Diagnose Mitochondrial Diseases

Asparagine Synthetase Deficiency causes reduced proliferation of cells under conditions of limited asparagine.

BCL-2 hypermethylation is a potential biomarker of sensitivity to antimitotic chemotherapy in endocrine-resistant breast cancer

Beyond the panel: preconception screening in consanguineous couples using the TruSight One "clinical exome"

Biparental inheritance of mitochondrial DNA in humans is not a common phenomenon

Brief Report: Potent clinical and radiological response to larotrectinib in TRK fusion-driven high-grade glioma

Cancer-associated noncoding mutations affect RNA G-quadruplex-mediated regulation of gene expression

Cell and molecular determinants of in vivo efficacy of the BH3 mimetic ABT-263 against pediatric acute lymphoblastic leukemia xenografts

Clinical Spectrum and Functional Consequences Associated with Bi-Allelic Pathogenic PNPT1 Variants

Clinical and molecular characterization of HER2 amplified-pancreatic cancer.

Clinical and pathologic features of familial pancreatic cancer

Clonal expansions of cytotoxic T cells exist in the blood of patients with Waldenstrom macroglobulinemia but exhibit anergic properties and are eliminated by nucleoside analogue therapy

Cold adaptation in the marine bacterium, Sphingopyxis alaskensis, assessed using quantitative proteomics

Consolidation of the cancer genome into domains of repressive chromatin by long-range epigenetic silencing (LRES) reduces transcriptional plasticity

Cryptic intronic NBAS variant reveals the genetic basis of recurrent liver failure in a child

Deep multi-region whole-genome sequencing reveals heterogeneity and gene-by-environment interactions in treatment-naive, metastatic lung cancer

Defining the genetic basis of early onset hereditary spastic paraplegia using whole genome sequencing

Denisovan, modern human and mouse TNFAIP3 alleles tune A20 phosphorylation and immunity

Detection of growth hormone doping by gene expression profiling of peripheral blood.

Differential regulation of the Let-7 family of microRNAs in CD4+ T cells alters IL-10 expression.

ELF5 suppresses estrogen sensitivity and underpins the acquisition of antiestrogen resistance in luminal breast cancer.

EPG5-Related Vici Syndrome: A Primary Defect of Autophagic Regulation with an Emerging Phenotype Overlapping with Mitochondrial Disorders

Evaluation of Streck BCT and PAXgene Stabilised Blood Collection Tubes for Cell-Free Circulating DNA Studies in Plasma.

Expanding the spectrum of PEX16 mutations and novel insights into disease mechanisms

Expression of pro- and antiapoptotic molecules of the Bcl-2 family in human islets postisolation

Extracellular matrix composition significantly influences pancreatic stellate cell gene expression pattern: role of transgelin in PSC function

Fatal perinatal mitochondrial cardiac failure caused by recurrent <i>de novo</i> duplications in the <i>ATAD3</i> locus

Gene-expression profiling of gram-positive and gram-negative sepsis in critically ill patients.

Genetic dissection of gene regulation in multiple mouse tissues.

Genome sequencing as a first-line genetic test in familial dilated cardiomyopathy

Genome-wide DNA methylation patterns in pancreatic ductal adenocarcinoma reveal epigenetic deregulation of SLIT-ROBO, ITGA2 and MET signaling.

Genomic analyses identify molecular subtypes of pancreatic cancer

Germline variants in familial pituitary tumour syndrome genes are common in young patients and families with additional endocrine tumours

Glutamine addiction promotes glucose oxidation in triple-negative breast cancer

Gonadal mosaicism of a novel IQSEC2 variant causing female limited intellectual disability and epilepsy.

High Degree of Genetic Heterogeneity for Hereditary Cerebellar Ataxias in Australia

Histomolecular phenotypes and outcome in adenocarcinoma of the ampulla of vater

Human islets express a marked proinflammatory molecular signature prior to transplantation.

Hypermutation In Pancreatic Cancer

Identification of Novel GH-Regulated Pathway of Lipid Metabolism in Adipose Tissue: A Gene Expression Study in Hypopituitary Men

Impaired B cell development in the absence of Krüppel-like factor 3.

Improved Diagnosis and Care for Rare Diseases through Implementation of Precision Public Health Framework

Infant high grade gliomas comprise multiple subgroups characterized by novel targetable gene fusions and favorable outcomes

Influence of atrial fibrillation on microRNA expression profiles in left and right atria from patients with valvular heart disease.

Inheritance of coronary artery disease in men: an analysis of the role of the Y chromosome

Integrating exome sequencing into a diagnostic pathway for epileptic encephalopathy: Evidence of clinical utility and cost effectiveness.

Integration of genomics, high throughput drug screening, and personalized xenograft models as a novel precision medicine paradigm for high risk pediatric cancer

Intra- and inter-individual genetic differences in gene expression

JRK is a positive regulator of β-catenin transcriptional activity commonly overexpressed in colon, breast and ovarian cancer

MTOR signaling orchestrates stress-induced mutagenesis, facilitating adaptive evolution in cancer

Maternal obesity and diabetes induces latent metabolic defects and widespread epigenetic changes in isogenic mice

MicroRNA profiling of the pubertal mouse mammary gland identifies miR-184 as a candidate breast tumour suppressor gene

Mitochondrial CoQ deficiency is a common driver of mitochondrial oxidants and insulin resistance.

Mutation allele burden remains unchanged in chronic myelomonocytic leukaemia responding to hypomethylating agents

Neuropilin-2 promotes extravasation and metastasis by interacting with endothelial α5 integrin

Next-Generation Sequencing and Emerging Technologies

Normalization and statistical analysis of quantitative proteomics data generated by metabolic labeling

Normalization procedures and detection of linkage signal in genetical-genomics experiments

Oral malignant gastrointestinal neuroectodermal tumour with junctional component mimicking mucosal melanoma

PINA v2.0: mining interactome modules.

Pancreatic cancer genomes reveal aberrations in axon guidance pathway genes

Population data improves variant interpretation in autosomal dominant polycystic kidney disease

Proteomic comparison of colorectal tumours and non-neoplastic mucosa from paired patient samples using iTRAQ mass spectrometry.

RON is not a prognostic marker for resectable pancreatic cancer

Reanalysis and optimisation of bioinformatic pipelines is critical for mutation detection

Recurrent SPECC1L-NTRK fusions in paediatric sarcoma and brain tumours

Response to Brodehl et al

Reversible Suppression of Lymphoproliferation and Thrombocytopenia with Rapamycin in a Patient with Common Variable Immunodeficiency

SOX9 regulates ERBB signalling in pancreatic cancer development.

Seave: a comprehensive web platform for storing and interrogating human genomic variation

SerpinB2 regulates stromal remodelling and local invasion in pancreatic cancer.