C. Diggle

发表

Mutations in MEGF10, a regulator of satellite cell myogenesis, cause early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD)

Colin A. Johnson, D. Bonthron, F. Muntoni, 2011, Nature Genetics.

A novel RyR1 inhibitor prevents and rescues sudden death in a mouse model of malignant hyperthermia and heat stroke

Y. Inoue, Takayoshi Inoue, I. Nishino, 2020 .

Endogenous fructose production and fructokinase activation mediate renal injury in diabetic nephropathy.

D. Bonthron, M. Lanaspa, C. Rivard, 2014, Journal of the American Society of Nephrology : JASN.

CCDC151 Mutations Cause Primary Ciliary Dyskinesia by Disruption of the Outer Dynein Arm Docking Complex Formation

H. Omran, S. Letteboer, R. Roepman, 2014, American journal of human genetics.

In vitro studies on the relationship between polyunsaturated fatty acids and cancer: tumour or tissue specific effects?

C. Diggle, 2002, Progress in lipid research.

Rapid Visualisation of Microarray Copy Number Data for the Detection of Structural Variations Linked to a Disease Phenotype

D. Bonthron, A. Markham, M. McKibbin, 2012, PloS one.

Bioenergetic defects in G2435R-RYR1 knock-in mice associated with malignant hyperthermia

P. Allen, Xiaochen Liu, P. Hopkins, 2020 .

Endogenous fructose production and metabolism in the liver contributes to the development of metabolic syndrome

D. Bonthron, J. McManaman, M. Lanaspa, 2013, Nature Communications.

Opposing effects of fructokinase C and A isoforms on fructose-induced metabolic syndrome in mice

D. Bonthron, M. Lanaspa, C. Rivard, 2012, Proceedings of the National Academy of Sciences.

High‐fat and high‐sucrose (western) diet induces steatohepatitis that is dependent on fructokinase

D. Bonthron, M. Lanaspa, C. Rivard, 2013, Hepatology.

A novel RyR1-selective inhibitor prevents and rescues sudden death in mouse models of malignant hyperthermia and heat stroke

Y. Inoue, Takayoshi Inoue, I. Nishino, 2021, Nature Communications.

Effects of long-chain fatty acids on human urothelial cells in organ culture.

J. Southgate, L. Trejdosiewicz, C. Diggle, 2000, Prostaglandins, leukotrienes, and essential fatty acids.

Role of p53 in the responses of human urothelial cells to genotoxic damage

J. Southgate, P. Harnden, L. Trejdosiewicz, 2001, International journal of cancer.

N;-3 and n;-6 polyunsaturated fatty acids induce cytostasis in human urothelial cells independent of p53 gene function.

J. Southgate, P. Roberts, L. Trejdosiewicz, 2000, Journal of lipid research.

Simple Detection of Germline Microsatellite Instability for Diagnosis of Constitutional Mismatch Repair Cancer Syndrome

D. Bonthron, N. Rahman, A. Markham, 2013, Human mutation.

Ketohexokinase: Expression and Localization of the Principal Fructose-metabolizing Enzyme

D. Bonthron, A. Markham, I. Carr, 2009, The journal of histochemistry and cytochemistry : official journal of the Histochemistry Society.

The binding of nucleotides to domain I proteins of the proton-translocating transhydrogenases from Rhodospirillum rubrum and Escherichia coli as measured by equilibrium dialysis.

J. Jackson, T. Bizouarn, C. Diggle, 1996, European journal of biochemistry.

Robust Diagnostic Genetic Testing Using Solution Capture Enrichment and a Novel Variant-Filtering Interface

Laura A. Crinnion, D. Bonthron, G. Taylor, 2013, Human mutation.

Development of a rapid, small-scale DNA repair assay for use on clinical samples.

A. Kiltie, J. Bentley, C. Diggle, 2003, Nucleic acids research.

Correction: Corrigendum: Endogenous fructose production and metabolism in the liver contributes to the development of metabolic syndrome

Laura G. Sánchez-Lozada, David T. Bonthron, Shoichi Maruyama, 2013, Nature Communications.

Mutations in 15-hydroxyprostaglandin dehydrogenase cause primary hypertrophic osteoarthropathy

D. Bonthron, C. Fishwick, A. Latos-Bieleńska, 2008, Nature Genetics.

HEATR2 Plays a Conserved Role in Assembly of the Ciliary Motile Apparatus

D. Bonthron, I. Jackson, A. von Kriegsheim, 2014, PLoS genetics.

Both isoforms of ketohexokinase are dispensable for normal growth and development.

D. Bonthron, A. Markham, I. Carr, 2010, Physiological genomics.

Mutations at tyrosine-235 in the mobile loop region of domain I protein of transhydrogenase from Rhodospirillum rubrum strongly inhibit hydride transfer.

R. Grimley, J. Jackson, T. Bizouarn, 1997, Biochimica et biophysica acta.

Properties of the purified, recombinant, NADP(H)-binding domain III of the proton-translocating nicotinamide nucleotide transhydrogenase from Rhodospirillum rubrum.

J. Jackson, N. Cotton, T. Bizouarn, 1996, European journal of biochemistry.

Mutation of Tyr in the NAD(H)-binding Subunit of the Proton-translocating Nicotinamide Nucleotide Transhydrogenase of Rhodospirillum rubrum Affects the Conformational Dynamics of a Mobile Loop and Lowers the Catalytic Activity of the Enzyme (*)

R. Grimley, Christopher M Thomas, J. Jackson, 1996, The Journal of Biological Chemistry.

Interaction of Nucleotides with the NAD(H)-binding Domain of the Proton-translocating Transhydrogenase of Rhodospirillum rubrum(*)

R. Grimley, Christopher M Thomas, J. Jackson, 1996, The Journal of Biological Chemistry.

Properties of the soluble polypeptide of the proton-translocating transhydrogenase from Rhodospirillum rubrum obtained by expression in Escherichia coli.

J. Jackson, G. Jones, C. Diggle, 1995, European journal of biochemistry.

Malignant hyperthermia, environmental heat stress, and intracellular calcium dysregulation in a mouse model expressing the p.G2435R variant of RYR1

P. Allen, V. Kaura, P. Hopkins, 2018, British journal of anaesthesia.

DNA double strand break repair in human bladder cancer is error prone and involves microhomology-associated end-joining.

A. Kiltie, M. Knowles, J. Bentley, 2004, Nucleic acids research.

Mutations causing familial biparental hydatidiform mole implicate c6orf221 as a possible regulator of genomic imprinting in the human oocyte.

Colin A. Johnson, D. Bonthron, G. Taylor, 2011, American journal of human genetics.

An observational study on the expression levels of MDM2 and MDMX proteins, and associated effects on P53 in a series of human liposarcomas

K. Horgan, A. Markham, I. Carr, 2013, BMC Clinical Pathology.

Identification of genes up-regulated in urothelial tumors: the 67-kd laminin receptor and tumor-associated trypsin inhibitor.

J. Southgate, M. Knowles, P. Selby, 2003, The American journal of pathology.

Common and recurrent HPGD mutations in Caucasian individuals with primary hypertrophic osteoarthropathy.

D. Bonthron, A. Markham, R. Hopkin, 2010, Rheumatology.

A tubulin alpha 8 mouse knockout model indicates a likely role in spermatogenesis but not in brain development

Laura A. Crinnion, D. Bonthron, Z. Molnár, 2017, PloS one.

CCDC151 Mutations Cause Primary Ciliary Dyskinesia by Disruption of the Outer Dynein Arm Docking Complex Formation

H. Omran, S. Letteboer, R. Roepman, 2014, American Journal of Human Genetics.

Explorer HEATR 2 Plays a Conserved Role in Assembly of the Ciliary Motile Apparatus

Amaya Garcia Munoz, D. Bonthron, I. Jackson, 2017 .

Mutations in GPAA1, Encoding a GPI Transamidase Complex Protein, Cause Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia.

Colin A. Johnson, J. Rosenfeld, A. Bateman, 2017, American journal of human genetics.

Inhibition of double-strand break non-homologous end-joining by cisplatin adducts in human cell extracts

A. Kiltie, M. Knowles, J. Bentley, 2005, Nucleic acids research.

Role of PPAR γ and EGFR signalling in the urothelial terminal differentiation programme

J. Southgate, C. Varley, J. Holder, 2004, Journal of Cell Science.

Biallelic Mutations in PDE10A Lead to Loss of Striatal PDE10A and a Hyperkinetic Movement Disorder with Onset in Infancy.

D. Bonthron, O. Howes, N. Brandon, 2016, American journal of human genetics.

Conformational dynamics of a mobile loop in the NAD(H)-binding subunit of proton-translocating transhydrogenases from Rhodospirillum rubrum and Escherichia coli.

R. Grimley, J. Jackson, N. Cotton, 1995, European journal of biochemistry.

Primary Hypertrophic Osteoarthropathy: An Update on Patient Features and Treatment

D. Bonthron, A. Markham, B. Prakken, 2015, The Journal of Rheumatology.

Prostaglandin transporter mutations cause pachydermoperiostosis with myelofibrosis

Colin A. Johnson, D. Bonthron, G. Taylor, 2012, Human mutation.

Developing Hollow-Channel Gold Nanoflowers as Trimodal Intracellular Nanoprobes

S. Evans, A. Markham, P. Coletta, 2018, International journal of molecular sciences.

Simple and Efficient Identification of Rare Recessive Pathologically Important Sequence Variants from Next Generation Exome Sequence Data

D. Bonthron, F. Alkuraya, A. Markham, 2013, Human mutation.

Identification of autosomal recessive disease loci using out‐bred nuclear families

Colin A. Johnson, D. Bonthron, I. Carr, 2012, Human mutation.

Bioenergetic defects in muscle fibers of RYR1 mutant knock-in mice associated with malignant hyperthermia

P. Allen, Xiaochen Liu, M. Shaw, 2020, The Journal of Biological Chemistry.

Nucleotide Binding to the Proton-Translocating Nicotinamide Nucleotide Transhydrogenase from Rhodospirillum rubrum

R. Grimley, Christopher M Thomas, N. Cotton, 1995 .

Illuminator, a desktop program for mutation detection using short-read clonal sequencing.

D. Bonthron, G. Taylor, A. Markham, 2011, Genomics.