Centre for Translational Omics,
Genetics and Genomic Medicine Deptartment,
Great Ormond Street Institute of Child Health,
Centre for Translational Omics, Genetics and Genomic Medicine Deptartment, Great Ormond Street Institute of Child Health
Kevin Mills has not added Biography.
If you are Kevin Mills and would like to personalize this page please email our Author Liaison for assistance.
Synthesis of novel internal standards for the quantitative determination of plasma ceramide trihexoside in Fabry disease by tandem mass spectrometry.
FEBS letters Mar, 2002 | Pubmed ID: 11943216
Unrepaired DNA breaks in p53-deficient cells lead to oncogenic gene amplification subsequent to translocations.
Cell Jun, 2002 | Pubmed ID: 12110179
Fourth ventricular CART reduces food and water intake and produces a conditioned taste aversion in rats.
Behavioral neuroscience Oct, 2002 | Pubmed ID: 12369811
The underglycosylation of plasma alpha 1-antitrypsin in congenital disorders of glycosylation type I is not random.
Glycobiology Feb, 2003 | Pubmed ID: 12626422
The role of DNA breaks in genomic instability and tumorigenesis.
Immunological reviews Aug, 2003 | Pubmed ID: 12846809
Rad54 and DNA Ligase IV cooperate to maintain mammalian chromatid stability.
Genes & development Jun, 2004 | Pubmed ID: 15175260
Collaboration of homologous recombination and nonhomologous end-joining factors for the survival and integrity of mice and cells.
Genes & development Jun, 2004 | Pubmed ID: 15175261
Monitoring the clinical and biochemical response to enzyme replacement therapy in three children with Fabry disease.
European journal of pediatrics Oct, 2004 | Pubmed ID: 15243806
The synthesis of internal standards for the quantitative determination of sphingolipids by tandem mass spectrometry.
Rapid communications in mass spectrometry : RCM , 2005 | Pubmed ID: 15909321
Non-invasive screening method for Fabry disease by measuring globotriaosylceramide in whole urine samples using tandem mass spectrometry.
Molecular genetics and metabolism Jul, 2005 | Pubmed ID: 15979031
Determination of coenzyme Q10 status in blood mononuclear cells, skeletal muscle, and plasma by HPLC with di-propoxy-coenzyme Q10 as an internal standard.
Clinical chemistry Dec, 2005 | Pubmed ID: 16306103
Genomic instability and aging-like phenotype in the absence of mammalian SIRT6.
Cell Jan, 2006 | Pubmed ID: 16439206
53BP1 and p53 synergize to suppress genomic instability and lymphomagenesis.
Proceedings of the National Academy of Sciences of the United States of America Feb, 2006 | Pubmed ID: 16492765
Diagnosis of congenital disorders of glycosylation type-I using protein chip technology.
Proteomics Apr, 2006 | Pubmed ID: 16552784
XRCC4 suppresses medulloblastomas with recurrent translocations in p53-deficient mice.
Proceedings of the National Academy of Sciences of the United States of America May, 2006 | Pubmed ID: 16670198
Quantitative analysis of s-adenosylmethionine and s-adenosylhomocysteine in neurulation-stage mouse embryos by liquid chromatography tandem mass spectrometry.
Journal of chromatography. B, Analytical technologies in the biomedical and life sciences Nov, 2006 | Pubmed ID: 16890031
Integrity of the methylation cycle is essential for mammalian neural tube closure.
Birth defects research. Part A, Clinical and molecular teratology Jul, 2006 | Pubmed ID: 16933307
Dynamic clustered distribution of hemagglutinin resolved at 40 nm in living cell membranes discriminates between raft theories.
Proceedings of the National Academy of Sciences of the United States of America Oct, 2007 | Pubmed ID: 17959773
Chromosome neighborhood composition determines translocation outcomes after exposure to high-dose radiation in primary cells.
Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology , 2007 | Pubmed ID: 18060570
Homologous recombination is necessary for normal lymphocyte development.
Molecular and cellular biology Apr, 2008 | Pubmed ID: 18212067
Treatment of Fabry disease with different dosing regimens of agalsidase: effects on antibody formation and GL-3.
Molecular genetics and metabolism Jul, 2008 | Pubmed ID: 18424138
Abnormal sympathetic innervation of viable myocardium and the substrate of ventricular tachycardia after myocardial infarction.
Journal of the American College of Cardiology Jun, 2008 | Pubmed ID: 18534275
SIRT1 redistribution on chromatin promotes genomic stability but alters gene expression during aging.
Cell Nov, 2008 | Pubmed ID: 19041753
Discovery of a new biomarker for the mucopolysaccharidoses (MPS), dipeptidyl peptidase IV (DPP-IV; CD26), by SELDI-TOF mass spectrometry.
Molecular genetics and metabolism Apr, 2009 | Pubmed ID: 19153055
Gb(3)/creatinine biomarkers for Fabry disease: issues to consider.
Molecular genetics and metabolism Jul, 2009 | Pubmed ID: 19428279
Complex oncogenic translocations with gene amplification are initiated by specific DNA breaks in lymphocytes.
Cancer research May, 2009 | Pubmed ID: 19435904
Colocalization of somatic and meiotic double strand breaks near the Myc oncogene on mouse chromosome 15.
Genes, chromosomes & cancer Oct, 2009 | Pubmed ID: 19603522
Aging in inbred strains of mice: study design and interim report on median lifespans and circulating IGF1 levels.
Aging cell Jun, 2009 | Pubmed ID: 19627267
Engraftment, differentiation, and functional benefits of autologous cardiosphere-derived cells in porcine ischemic cardiomyopathy.
Circulation Sep, 2009 | Pubmed ID: 19738142
Global changes in processing of mRNA 3' untranslated regions characterize clinically distinct cancer subtypes.
Cancer research Dec, 2009 | Pubmed ID: 19934316
A novel method for the direct measurement of urinary conjugated metabolites of alpha-tocopherol and its use in diabetes.
Molecular nutrition & food research May, 2010 | Pubmed ID: 20169581
New role for LEKTI in skin barrier formation: label-free quantitative proteomic identification of caspase 14 as a novel target for the protease inhibitor LEKTI.
Journal of proteome research Aug, 2010 | Pubmed ID: 20533828
Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency).
Brain : a journal of neurology Jul, 2010 | Pubmed ID: 20554659
Widespread genomic breaks generated by activation-induced cytidine deaminase are prevented by homologous recombination.
Nature immunology Sep, 2010 | Pubmed ID: 20657597
Nuclear positioning, higher-order folding, and gene expression of Mmu15 sequences are refractory to chromosomal translocation.
Chromosoma Feb, 2011 | Pubmed ID: 20703494
ARTEMIS stabilizes the genome and modulates proliferative responses in multipotent mesenchymal cells.
BMC biology , 2010 | Pubmed ID: 20979627
Epidermal changes associated with symptomatic resolution of dandruff: biomarkers of scalp health.
International journal of dermatology Jan, 2011 | Pubmed ID: 21182510
Scalp stratum corneum histamine levels: novel sampling method reveals association with itch resolution in dandruff/seborrhoeic dermatitis treatment.
Acta dermato-venereologica Jun, 2011 | Pubmed ID: 21336476
Brain lipid-binding protein: a marker of differentiation in neuroblastic tumors.
Journal of pediatric surgery Jun, 2011 | Pubmed ID: 21683222
Rhabdomyosarcomas in aging A/J mice.
PloS one , 2011 | Pubmed ID: 21853140
Quantitative analysis of myo-inositol in urine, blood and nutritional supplements by high-performance liquid chromatography tandem mass spectrometry.
Journal of chromatography. B, Analytical technologies in the biomedical and life sciences Sep, 2011 | Pubmed ID: 21856255
2D DIGE analysis of maternal plasma for potential biomarkers of Down Syndrome.
Proteome science , 2011 | Pubmed ID: 21929753
Identification of new biomarkers for Down's syndrome in maternal plasma.
Journal of proteomics May, 2012 | Pubmed ID: 22456345
The development of a peptide SRM-based tandem mass spectrometry assay for prenatal screening of Down syndrome.
Journal of proteomics Jun, 2012 | Pubmed ID: 22543281
Measurement of plasma B6 vitamer profiles in children with inborn errors of vitamin B6 metabolism using an LC-MS/MS method.
Journal of inherited metabolic disease Jan, 2013 | Pubmed ID: 22576361
The identification of a new role for LEKTI in the skin: The use of protein 'bait' arrays to detect defective trafficking of dermcidin in the skin of patients with Netherton syndrome.
Journal of proteomics Jul, 2012 | Pubmed ID: 22588119
Activation-induced cytidine deaminase-initiated off-target DNA breaks are detected and resolved during S phase.
Journal of immunology (Baltimore, Md. : 1950) Sep, 2012 | Pubmed ID: 22826323
Reference measurement procedures for Alzheimer's disease cerebrospinal fluid biomarkers: definitions and approaches with focus on amyloid β42.
Biomarkers in medicine Aug, 2012 | Pubmed ID: 22917143
Urinary conjugated α-tocopheronolactone--a biomarker of oxidative stress in children with type 1 diabetes.
Free radical biology & medicine Feb, 2013 | Pubmed ID: 23108104
The identification of new biomarkers for identifying and monitoring kidney disease and their translation into a rapid mass spectrometry-based test: evidence of presymptomatic kidney disease in pediatric Fabry and type-I diabetic patients.
Journal of proteome research May, 2013 | Pubmed ID: 23464927
Progression in multiple sclerosis is associated with low endogenous NCAM.
Journal of neurochemistry Jun, 2013 | Pubmed ID: 23495921
Attenuating homologous recombination stimulates an AID-induced antileukemic effect.
The Journal of experimental medicine May, 2013 | Pubmed ID: 23589568
Coenzyme Q10 quantification in muscle, fibroblasts and cerebrospinal fluid by liquid chromatography/tandem mass spectrometry using a novel deuterated internal standard.
Rapid communications in mass spectrometry : RCM May, 2013 | Pubmed ID: 23592193
A new method for the rapid diagnosis of protein N-linked congenital disorders of glycosylation.
Journal of proteome research Jul, 2013 | Pubmed ID: 23742123
Thymosin β4-sulfoxide attenuates inflammatory cell infiltration and promotes cardiac wound healing.
Nature communications , 2013 | Pubmed ID: 23820300
A DNA break- and phosphorylation-dependent positive feedback loop promotes immunoglobulin class-switch recombination.
Nature immunology Nov, 2013 | Pubmed ID: 24097111
Tumor suppression: putting p53 in context.
Cell cycle (Georgetown, Tex.) Nov, 2013 | Pubmed ID: 24131920
Physiological expression of the PI3K-activating mutation Pik3ca(H1047R) combines with Apc loss to promote development of invasive intestinal adenocarcinomas in mice.
The Biochemical journal Mar, 2014 | Pubmed ID: 24320611
Epilepsy due to PNPO mutations: genotype, environment and treatment affect presentation and outcome.
Brain : a journal of neurology May, 2014 | Pubmed ID: 24645144
Growth associated protein (GAP-43): cloning and the development of a sensitive ELISA for neurological disorders.
Journal of neuroimmunology Nov, 2014 | Pubmed ID: 25175067
Changes in regulation of human monocyte proteins in response to IgG from patients with antiphospholipid syndrome.
Blood Dec, 2014 | Pubmed ID: 25301710
Pathogenic autoantibodies from patients with lupus nephritis cause reduced tyrosine phosphorylation of podocyte proteins, including tubulin.
Lupus science & medicine , 2014 | Pubmed ID: 25396061
Current applications of biomarkers in cardiomyopathies.
Expert review of cardiovascular therapy , 2015 | Pubmed ID: 26106935
Residential Segregation and Overweight/Obesity Among African-American Adults: A Critical Review.
Frontiers in public health , 2015 | Pubmed ID: 26191522
Proteomic Discovery and Development of a Multiplexed Targeted MRM-LC-MS/MS Assay for Urine Biomarkers of Extracellular Matrix Disruption in Mucopolysaccharidoses I, II, and VI.
Analytical chemistry Dec, 2015 | Pubmed ID: 26537538
Identification of novel CSF biomarkers for neurodegeneration and their validation by a high-throughput multiplexed targeted proteomic assay.
Molecular neurodegeneration , 2015 | Pubmed ID: 26627638
Increased cerebrospinal fluid soluble TREM2 concentration in Alzheimer's disease.
Molecular neurodegeneration , 2016 | Pubmed ID: 26754172
Inositol for the prevention of neural tube defects: a pilot randomised controlled trial.
The British journal of nutrition Mar, 2016 | Pubmed ID: 26847388
Erratum to: Identification of novel CSF biomarkers for neurodegeneration and their validation by a high-throughput multiplexed targeted proteomic assay.
Molecular neurodegeneration , 2016 | Pubmed ID: 26907468
Inositol for prevention of neural tube defects: a pilot randomised controlled trial - CORRIGENDUM.
The British journal of nutrition May, 2016 | Pubmed ID: 26917444
Formate supplementation enhances folate-dependent nucleotide biosynthesis and prevents spina bifida in a mouse model of folic acid-resistant neural tube defects.
Biochimie Jul, 2016 | Pubmed ID: 26924399
Comparison of Two Dimension-Reduction Methods for Network Simulation Models.
Journal of research of the National Institute of Standards and Technology Sep-Oct, 2011 | Pubmed ID: 26989599
Chromosomal Instability Affects the Tumorigenicity of Glioblastoma Tumor-Initiating Cells.
Cancer discovery May, 2016 | Pubmed ID: 27001151
Quantitative Proteomic Analysis of Stratum Corneum Dysfunction in Adult Chronic Atopic Dermatitis.
The Journal of investigative dermatology Aug, 2016 | Pubmed ID: 27091361
Global serum glycoform profiling for the investigation of dystroglycanopathies & Congenital Disorders of Glycosylation.
Molecular genetics and metabolism reports Jun, 2016 | Pubmed ID: 27134828
Identification of novel bile acids as biomarkers for the early diagnosis of Niemann-Pick C disease.
FEBS letters Jun, 2016 | Pubmed ID: 27139891
A rapid high throughput proteomic method based on profiling of proteolytic free peptides to assess post-delivery degradation of placental tissue.
Placenta Aug, 2016 | Pubmed ID: 27161200
Simulating Timescale Dynamics of Network Traffic Using Homogeneous Modeling.
Journal of research of the National Institute of Standards and Technology , 2006 | Pubmed ID: 27274931
The embryological basis of subclinical hypertrophic cardiomyopathy.
Scientific reports , 2016 | Pubmed ID: 27323879
Regulation of post-Golgi LH3 trafficking is essential for collagen homeostasis.
Nature communications , 2016 | Pubmed ID: 27435297
An optimised method for the proteomic profiling of full thickness human skin.
Biological procedures online , 2016 | Pubmed ID: 27445641
Exploring Collective Dynamics in Communication Networks.
Journal of research of the National Institute of Standards and Technology , 2002 | Pubmed ID: 27446726
Wendy E. Heywood*,1,
Anna Baud*,1,
Emily Bliss1,
Ernestas Sirka1,
Jonathan M. Schott2,
Henrik Zetterberg3,
Daniela Galimberti4,
Neil J. Sebire5,
Kevin Mills1
1Centre for Translational Omics, Genetics and Genomic Medicine Deptartment, Great Ormond Street Institute of Child Health, University College London,
2Dementia Research Centre, Institute of Neurology, University College London,
3Clinical Neurochemistry Laboratory, Institute of Neuroscience and Physiology, Department of Psychiatry and Neurochemistry, The Sahlgrenska Academy, University of Gothenburg,
4Neurology Unit, Department of Pathophysiology and Transplantation, University of Milan,
5Great Ormond Street Hospital for Children, University College London
JoVE 소개
Copyright © 2024 MyJoVE Corporation. 판권 소유