List of works - Roger Cox

A K ATP channel-dependent pathway within alpha cells regulates glucagon release from both rodent and human islets of Langerhans.

scientific article

A Wars2 Mutant Mouse Model Displays OXPHOS Deficiencies and Activation of Tissue-Specific Stress Response Pathways

scientific article published on 01 December 2018

A gene-driven ENU-based approach to generating an allelic series in any gene

scientific article

A gene-driven approach to the identification of ENU mutants in the mouse

scientific article

A high-throughput assay for modulators of NNT activity in permeabilized yeast cells

scientific article

A kinetic core model of the glucose-stimulated insulin secretion network of pancreatic beta cells

scientific article published on 21 May 2007

A metabolomic comparison of urinary changes in type 2 diabetes in mouse, rat, and human

scientific article published on 26 December 2006

A missense mutation in the non-neural G-protein alpha-subunit isoforms modulates susceptibility to obesity.

scientific article published on 24 February 2009

A mouse model for inherited renal fibrosis associated with endoplasmic reticulum stress

scientific article

A mouse model for osseous heteroplasia

scientific article

A mouse model for spondyloepiphyseal dysplasia congenita with secondary osteoarthritis due to aCol2a1mutation

article

A mouse model for the metabolic effects of the human fat mass and obesity associated FTO gene

scientific article

A mouse model of early-onset renal failure due to a xanthine dehydrogenase nonsense mutation

scientific article

A mouse with an N-Ethyl-N-nitrosourea (ENU) Induced Trp589Arg Galnt3 mutation represents a model for hyperphosphataemic familial tumoural calcinosis

scientific article

A mutation in KCNJ11 causing human hyperinsulinism (Y12X) results in a glucose-intolerant phenotype in the mouse ⬇️

scientific article published on August 8, 2010

A new mouse model of type 2 diabetes, produced by N-ethyl-nitrosourea mutagenesis, is the result of a missense mutation in the glucokinase gene

scientific article

A novel mutation in the mouse Pcsk1 gene showing obesity and diabetes

scientific article published on 23 January 2020

A radiation hybrid transcript map of the mouse genome

scientific article published on 01 October 2001

Adult onset global loss of the fto gene alters body composition and metabolism in the mouse

scientific article (publication date: 2013)

An -Ethyl--Nitrosourea (ENU) Mutagenized Mouse Model for Autosomal Dominant Nonsyndromic Kyphoscoliosis Due to Vertebral Fusion

article published in 2018

An N-ethyl-N-nitrosourea (ENU)-induced Tyr265Stop mutation of the DNA polymerase accessory subunit gamma 2 (Polg2) is associated with renal calcification in mice

scientific article published on 14 December 2018

An N-ethyl-N-nitrosourea induced corticotropin-releasing hormone promoter mutation provides a mouse model for endogenous glucocorticoid excess

scientific article

Analysis of 14 Candidate Genes for Diabetic Nephropathy on Chromosome 3q in European Populations: Strongest Evidence for Association With a Variant in the Promoter Region of the Adiponectin Gene

article

Analysis of mammalian gene function through broad-based phenotypic screens across a consortium of mouse clinics

scientific article

Angiotensin-1-converting enzyme (ACE) plasma concentration is influenced by multiple ACE-linked quantitative trait nucleotides

scientific article

Association between Angiotensin-Converting Enzyme Gene Polymorphisms and Diabetic Nephropathy: Case-Control, Haplotype, and Family-Based Study in Three European Populations

article

Autosomal dominant hypercalciuria in a mouse model due to a mutation of the epithelial calcium channel, TRPV5

scientific article

Bone matrix development in steroid-induced osteoporosis is associated with a consistently reduced fibrillar stiffness linked to altered bone mineral quality

article

Changes in gene expression associated with FTO overexpression in mice

scientific article published on 19 May 2014

Chromosomal Mapping of Genetic Loci Controlling Absence Epilepsy Phenotypes in the WAG/Rij Rat

scientific article published on 01 August 2004

Cinacalcet corrects hypercalcemia in mice with an inactivating Gα11 mutation.

scientific article

Commentary: FTO obesity variant circuitry and adipocyte browning in humans

scientific article published on 23 October 2015

Comparison of fluorescent single-strand conformation polymorphism analysis and denaturing high-performance liquid chromatography for detection of EXT1 and EXT2 mutations in hereditary multiple exostoses

article

Comprehensive Energy Balance Measurements in Mice

scientific article

Deletion of Nicotinamide Nucleotide Transhydrogenase: A New Quantitive Trait Locus Accounting for Glucose Intolerance in C57BL/6J Mice

scientific article published on 01 July 2006

Dietary cystine level affects metabolic rate and glycaemic control in adult mice

scientific article published on 2 May 2011

Differences in the degree of cerulein-induced chronic pancreatitis in C57BL/6 mouse substrains lead to new insights in identification of potential risk factors in the development of chronic pancreatitis

scientific article published on 08 July 2013

Disruption of the homeodomain transcription factor orthopedia homeobox (Otp) is associated with obesity and anxiety

scientific article

ENU mutagenesis in the mouse: application to human genetic disease

scientific article published in October 2002

ENU mutagenesis, a way forward to understand gene function

scientific article published on January 2008

Establishing normal plasma and 24-hour urinary biochemistry ranges in C3H, BALB/c and C57BL/6J mice following acclimatization in metabolic cages

scientific article published on 10 May 2010

European rational approach for the genetics of diabetic complications--EURAGEDIC: patient populations and strategy

scientific article (publication date: 2008)

Exploring the Lean Phenotype of Glutathione-Depleted Mice: Thiol, Amino Acid and Fatty Acid Profiles.

scientific article

Expression of an activating mutation in the gene encoding the KATP channel subunit Kir6.2 in mouse pancreatic beta cells recapitulates neonatal diabetes

scientific article published on 08 December 2008

FTO demethylase activity is essential for normal bone growth and bone mineralization in mice

scientific article published in December 2017

FTO influences adipogenesis by regulating mitotic clonal expansion

scientific article

FTO is expressed in neurones throughout the brain and its expression is unaltered by fasting

scientific article

From mice to humans

scientific article published on December 2012

Functional annotations of diabetes nephropathy susceptibility loci through analysis of genome-wide renal gene expression in rat models of diabetes mellitus

scientific article published on 9 July 2009

Functional inactivation of the genome-wide association study obesity gene neuronal growth regulator 1 in mice causes a body mass phenotype

scientific journal article

Gene Dosage Effects at the Imprinted Gnas Cluster

scientific article (publication date: 2013)

Genome-wide association study using extreme truncate selection identifies novel genes affecting bone mineral density and fracture risk

scientific article

Gα11 mutation in mice causes hypocalcemia rectifiable by calcilytic therapy.

scientific article published on 09 February 2017

Haploinsufficiency of the Insulin Receptor in the Presence of a Splice-Site Mutation in Ppp2r2a Results in a Novel Digenic Mouse Model of Type 2 Diabetes

scientific article published on 11 February 2016

Hypophosphatemic rickets is associated with disruption of mineral orientation at the nanoscale in the flat scapula bones of rachitic mice with development

scientific article published on 15 May 2012

Increased Expression of the Diabetes Gene SOX4 Reduces Insulin Secretion by Impaired Fusion Pore Expansion

scientific article published on 18 March 2016

Insulin secretion from beta-cells is affected by deletion of nicotinamide nucleotide transhydrogenase

scientific article

Introduction to mammalian genome special issue: metabolism

scientific article published on 01 October 2014

Islet Insulin Secretion Measurements in the Mouse

scientific article published on 01 September 2016

Isolation and characterization of LRP6, a novel member of the low density lipoprotein receptor gene family

scientific article

Loss of FTO antagonises Wnt signaling and leads to developmental defects associated with ciliopathies

scientific article (publication date: 2014)

Loss of arylformamidase with reduced thymidine kinase expression leads to impaired glucose tolerance

scientific article published on 2 October 2015

Macrophages from BALB/c and CBA/Ca mice differ in their cellular responses to Streptococcus pneumoniae

scientific article

Mice with an N-Ethyl-N-Nitrosourea (ENU) Induced Tyr209Asn Mutation in Natriuretic Peptide Receptor 3 (NPR3) Provide a Model for Kyphosis Associated with Activation of the MAPK Signaling Pathway

scientific article

Molecular reductions in glucokinase activity increase counter-regulatory responses to hypoglycemia in mice and humans with diabetes

article

Monitoring type 2 diabetes from volatile faecal metabolome in Cushing's syndrome and single Afmid mouse models via a longitudinal study

scientific article published on 11 December 2019

Mouse Models of Human GWAS Hits for Obesity and Diabetes in the Post Genomic Era: Time for Reevaluation

scientific article published on 7 February 2017

Mouse models and the interpretation of human GWAS in type 2 diabetes and obesity

scientific article published on 14 February 2011

Mouse models and type 2 diabetes: translational opportunities

scientific article published on 29 June 2011

Multiscale alterations in bone matrix quality increased fragility in steroid induced osteoporosis

scientific article

Mutant Mice With Calcium-Sensing Receptor Activation Have Hyperglycemia That Is Rectified by Calcilytic Therapy

scientific article

Mutations in Mll2, an H3K4 methyltransferase, result in insulin resistance and impaired glucose tolerance in mice

scientific article (publication date: 2013)

Mylk3 null C57BL/6N mice develop cardiomyopathy, whereas Nnt null C57BL/6J mice do not

scientific article published on 25 March 2020

N-ethyl-N-Nitrosourea (ENU) induced mutations within the klotho gene lead to ectopic calcification and reduced lifespan in mouse models

scientific article

N-ethyl-N-nitrosourea-Induced Adaptor Protein 2 Sigma Subunit 1 (Ap2s1) Mutations Establish Ap2s1 Loss-of-Function Mice.

scientific article published in May 2017

New semidominant mutations that affect mouse development

scientific journal article

Nicotinamide nucleotide transhydrogenase (NNT) acts as a novel modulator of macrophage inflammatory responses

scientific article published on 16 May 2012

Novel gene function revealed by mouse mutagenesis screens for models of age-related disease.

scientific article

Novel mutations in human and mouse SCN4A implicate AMPK in myotonia and periodic paralysis

scientific article

Novel phenotypes identified by plasma biochemical screening in the mouse

scientific article published in October 2002

On the evolutionary origins of obesity: a new hypothesis

scientific article (publication date: May 2014)

Overexpression of Fto leads to increased food intake and results in obesity

scientific article

Pharmacological inhibition of FTO.

scientific article published on April 2015

Phenotyping murine models of non-alcoholic fatty liver disease through metabolic profiling of intact liver tissue

scientific article

Polygenic Control of Idiopathic Generalized Epilepsy Phenotypes in the Genetic Absence Rats from Strasbourg (GAERS)

scientific article published in April 2004

Positional cloning of a quantitative trait locus on chromosome 13q14 that influences immunoglobulin E levels and asthma

scientific article

R-type Ca(2+)-channel-evoked CICR regulates glucose-induced somatostatin secretion

scientific journal article

Refined linkage disequilibrium and physical mapping of the gene locus for X-linked dystonia-parkinsonism (DYT3).

scientific article

Regulatory variants at KLF14 influence type 2 diabetes risk via a female-specific effect on adipocyte size and body composition.

scientific article

Rodent models of genetic disease

scientific article

Role for the obesity-related FTO gene in the cellular sensing of amino acids

scientific article published on 28 January 2013

Role of the transcription factor sox4 in insulin secretion and impaired glucose tolerance

scientific journal article

SNP haplotypes in the angiotensin I-converting enzyme (ACE) gene: analysis of Nigerian family data using gamete competition models.

scientific article

Significant deterioration in nanomechanical quality occurs through incomplete extrafibrillar mineralization in rachitic bone: evidence from in-situ synchrotron X-ray scattering and backscattered electron imaging

scientific article

Symmetrically reduced stiffness and increased extensibility in compression and tension at the mineralized fibrillar level in rachitic bone.

scientific article published on 3 November 2012

The Calcilytic Agent NPS 2143 Rectifies Hypocalcemia in a Mouse Model With an Activating Calcium-Sensing Receptor (CaSR) Mutation: Relevance to Autosomal Dominant Hypocalcemia Type 1 (ADH1).

scientific article

The Collaborative Cross, a community resource for the genetic analysis of complex traits

article

The European dimension for the mouse genome mutagenesis program

scientific article

The role of intestinal microbiota in murine models of acetaminophen-induced hepatotoxicity

scientific article published on 8 October 2014

Type-2 diabetes: a cocktail of genetic discovery.

scientific article published on October 2006

UKPDS 31: Hepatocyte nuclear factor-1alpha (the MODY3 gene) mutations in late onset Type II diabetic patients in the United Kingdom

article

Use of mouse models in studying type 2 diabetes mellitus

scientific article published on 06 January 2011

List of works by Roger Cox

A K ATP channel-dependent pathway within alpha cells regulates glucagon release from both rodent and human islets of Langerhans.

A Wars2 Mutant Mouse Model Displays OXPHOS Deficiencies and Activation of Tissue-Specific Stress Response Pathways

A gene-driven ENU-based approach to generating an allelic series in any gene

A gene-driven approach to the identification of ENU mutants in the mouse

A high-throughput assay for modulators of NNT activity in permeabilized yeast cells

A kinetic core model of the glucose-stimulated insulin secretion network of pancreatic beta cells

A metabolomic comparison of urinary changes in type 2 diabetes in mouse, rat, and human

A missense mutation in the non-neural G-protein alpha-subunit isoforms modulates susceptibility to obesity.

A mouse model for inherited renal fibrosis associated with endoplasmic reticulum stress

A mouse model for osseous heteroplasia

A mouse model for spondyloepiphyseal dysplasia congenita with secondary osteoarthritis due to aCol2a1mutation

A mouse model for the metabolic effects of the human fat mass and obesity associated FTO gene

A mouse model of early-onset renal failure due to a xanthine dehydrogenase nonsense mutation

A mouse with an N-Ethyl-N-nitrosourea (ENU) Induced Trp589Arg Galnt3 mutation represents a model for hyperphosphataemic familial tumoural calcinosis

A mutation in KCNJ11 causing human hyperinsulinism (Y12X) results in a glucose-intolerant phenotype in the mouse ⬇️

A new mouse model of type 2 diabetes, produced by N-ethyl-nitrosourea mutagenesis, is the result of a missense mutation in the glucokinase gene

A novel mutation in the mouse Pcsk1 gene showing obesity and diabetes

A radiation hybrid transcript map of the mouse genome

Adult onset global loss of the fto gene alters body composition and metabolism in the mouse

An -Ethyl--Nitrosourea (ENU) Mutagenized Mouse Model for Autosomal Dominant Nonsyndromic Kyphoscoliosis Due to Vertebral Fusion

An N-ethyl-N-nitrosourea (ENU)-induced Tyr265Stop mutation of the DNA polymerase accessory subunit gamma 2 (Polg2) is associated with renal calcification in mice

An N-ethyl-N-nitrosourea induced corticotropin-releasing hormone promoter mutation provides a mouse model for endogenous glucocorticoid excess

Analysis of 14 Candidate Genes for Diabetic Nephropathy on Chromosome 3q in European Populations: Strongest Evidence for Association With a Variant in the Promoter Region of the Adiponectin Gene

Analysis of mammalian gene function through broad-based phenotypic screens across a consortium of mouse clinics

Angiotensin-1-converting enzyme (ACE) plasma concentration is influenced by multiple ACE-linked quantitative trait nucleotides

Association between Angiotensin-Converting Enzyme Gene Polymorphisms and Diabetic Nephropathy: Case-Control, Haplotype, and Family-Based Study in Three European Populations

Autosomal dominant hypercalciuria in a mouse model due to a mutation of the epithelial calcium channel, TRPV5

Bone matrix development in steroid-induced osteoporosis is associated with a consistently reduced fibrillar stiffness linked to altered bone mineral quality

Changes in gene expression associated with FTO overexpression in mice

Chromosomal Mapping of Genetic Loci Controlling Absence Epilepsy Phenotypes in the WAG/Rij Rat

Cinacalcet corrects hypercalcemia in mice with an inactivating Gα11 mutation.

Commentary: FTO obesity variant circuitry and adipocyte browning in humans

Comparison of fluorescent single-strand conformation polymorphism analysis and denaturing high-performance liquid chromatography for detection of EXT1 and EXT2 mutations in hereditary multiple exostoses

Comprehensive Energy Balance Measurements in Mice

Deletion of Nicotinamide Nucleotide Transhydrogenase: A New Quantitive Trait Locus Accounting for Glucose Intolerance in C57BL/6J Mice

Dietary cystine level affects metabolic rate and glycaemic control in adult mice

Differences in the degree of cerulein-induced chronic pancreatitis in C57BL/6 mouse substrains lead to new insights in identification of potential risk factors in the development of chronic pancreatitis

Disruption of the homeodomain transcription factor orthopedia homeobox (Otp) is associated with obesity and anxiety

ENU mutagenesis in the mouse: application to human genetic disease

ENU mutagenesis, a way forward to understand gene function

Establishing normal plasma and 24-hour urinary biochemistry ranges in C3H, BALB/c and C57BL/6J mice following acclimatization in metabolic cages

European rational approach for the genetics of diabetic complications--EURAGEDIC: patient populations and strategy

Exploring the Lean Phenotype of Glutathione-Depleted Mice: Thiol, Amino Acid and Fatty Acid Profiles.

Expression of an activating mutation in the gene encoding the KATP channel subunit Kir6.2 in mouse pancreatic beta cells recapitulates neonatal diabetes

FTO demethylase activity is essential for normal bone growth and bone mineralization in mice

FTO influences adipogenesis by regulating mitotic clonal expansion

FTO is expressed in neurones throughout the brain and its expression is unaltered by fasting

From mice to humans

Functional annotations of diabetes nephropathy susceptibility loci through analysis of genome-wide renal gene expression in rat models of diabetes mellitus

Functional inactivation of the genome-wide association study obesity gene neuronal growth regulator 1 in mice causes a body mass phenotype

Gene Dosage Effects at the Imprinted Gnas Cluster

Genome-wide association study using extreme truncate selection identifies novel genes affecting bone mineral density and fracture risk

Gα11 mutation in mice causes hypocalcemia rectifiable by calcilytic therapy.

Haploinsufficiency of the Insulin Receptor in the Presence of a Splice-Site Mutation in Ppp2r2a Results in a Novel Digenic Mouse Model of Type 2 Diabetes

Hypophosphatemic rickets is associated with disruption of mineral orientation at the nanoscale in the flat scapula bones of rachitic mice with development

Increased Expression of the Diabetes Gene SOX4 Reduces Insulin Secretion by Impaired Fusion Pore Expansion

Insulin secretion from beta-cells is affected by deletion of nicotinamide nucleotide transhydrogenase

Introduction to mammalian genome special issue: metabolism

Islet Insulin Secretion Measurements in the Mouse

Isolation and characterization of LRP6, a novel member of the low density lipoprotein receptor gene family

Loss of FTO antagonises Wnt signaling and leads to developmental defects associated with ciliopathies

Loss of arylformamidase with reduced thymidine kinase expression leads to impaired glucose tolerance

Macrophages from BALB/c and CBA/Ca mice differ in their cellular responses to Streptococcus pneumoniae

Mice with an N-Ethyl-N-Nitrosourea (ENU) Induced Tyr209Asn Mutation in Natriuretic Peptide Receptor 3 (NPR3) Provide a Model for Kyphosis Associated with Activation of the MAPK Signaling Pathway

Molecular reductions in glucokinase activity increase counter-regulatory responses to hypoglycemia in mice and humans with diabetes

Monitoring type 2 diabetes from volatile faecal metabolome in Cushing's syndrome and single Afmid mouse models via a longitudinal study

Mouse Models of Human GWAS Hits for Obesity and Diabetes in the Post Genomic Era: Time for Reevaluation

Mouse models and the interpretation of human GWAS in type 2 diabetes and obesity

Mouse models and type 2 diabetes: translational opportunities

Multiscale alterations in bone matrix quality increased fragility in steroid induced osteoporosis

Mutant Mice With Calcium-Sensing Receptor Activation Have Hyperglycemia That Is Rectified by Calcilytic Therapy

Mutations in Mll2, an H3K4 methyltransferase, result in insulin resistance and impaired glucose tolerance in mice

Mylk3 null C57BL/6N mice develop cardiomyopathy, whereas Nnt null C57BL/6J mice do not

N-ethyl-N-Nitrosourea (ENU) induced mutations within the klotho gene lead to ectopic calcification and reduced lifespan in mouse models

N-ethyl-N-nitrosourea-Induced Adaptor Protein 2 Sigma Subunit 1 (Ap2s1) Mutations Establish Ap2s1 Loss-of-Function Mice.

New semidominant mutations that affect mouse development

Nicotinamide nucleotide transhydrogenase (NNT) acts as a novel modulator of macrophage inflammatory responses

Novel gene function revealed by mouse mutagenesis screens for models of age-related disease.

Novel mutations in human and mouse SCN4A implicate AMPK in myotonia and periodic paralysis