Kevin Mills

Synthesis of novel internal standards for the quantitative determination of plasma ceramide trihexoside in Fabry disease by tandem mass spectrometry.

Unrepaired DNA breaks in p53-deficient cells lead to oncogenic gene amplification subsequent to translocations.

Fourth ventricular CART reduces food and water intake and produces a conditioned taste aversion in rats.

The underglycosylation of plasma alpha 1-antitrypsin in congenital disorders of glycosylation type I is not random.

The role of DNA breaks in genomic instability and tumorigenesis.

Rad54 and DNA Ligase IV cooperate to maintain mammalian chromatid stability.

Collaboration of homologous recombination and nonhomologous end-joining factors for the survival and integrity of mice and cells.

Monitoring the clinical and biochemical response to enzyme replacement therapy in three children with Fabry disease.

The synthesis of internal standards for the quantitative determination of sphingolipids by tandem mass spectrometry.

Non-invasive screening method for Fabry disease by measuring globotriaosylceramide in whole urine samples using tandem mass spectrometry.

Determination of coenzyme Q10 status in blood mononuclear cells, skeletal muscle, and plasma by HPLC with di-propoxy-coenzyme Q10 as an internal standard.

Genomic instability and aging-like phenotype in the absence of mammalian SIRT6.

53BP1 and p53 synergize to suppress genomic instability and lymphomagenesis.

Diagnosis of congenital disorders of glycosylation type-I using protein chip technology.

XRCC4 suppresses medulloblastomas with recurrent translocations in p53-deficient mice.

Quantitative analysis of s-adenosylmethionine and s-adenosylhomocysteine in neurulation-stage mouse embryos by liquid chromatography tandem mass spectrometry.

Integrity of the methylation cycle is essential for mammalian neural tube closure.

Dynamic clustered distribution of hemagglutinin resolved at 40 nm in living cell membranes discriminates between raft theories.

Chromosome neighborhood composition determines translocation outcomes after exposure to high-dose radiation in primary cells.

Homologous recombination is necessary for normal lymphocyte development.

Treatment of Fabry disease with different dosing regimens of agalsidase: effects on antibody formation and GL-3.

Abnormal sympathetic innervation of viable myocardium and the substrate of ventricular tachycardia after myocardial infarction.

SIRT1 redistribution on chromatin promotes genomic stability but alters gene expression during aging.

Discovery of a new biomarker for the mucopolysaccharidoses (MPS), dipeptidyl peptidase IV (DPP-IV; CD26), by SELDI-TOF mass spectrometry.

Gb(3)/creatinine biomarkers for Fabry disease: issues to consider.

Complex oncogenic translocations with gene amplification are initiated by specific DNA breaks in lymphocytes.

Colocalization of somatic and meiotic double strand breaks near the Myc oncogene on mouse chromosome 15.

Aging in inbred strains of mice: study design and interim report on median lifespans and circulating IGF1 levels.

Engraftment, differentiation, and functional benefits of autologous cardiosphere-derived cells in porcine ischemic cardiomyopathy.

Global changes in processing of mRNA 3' untranslated regions characterize clinically distinct cancer subtypes.

A novel method for the direct measurement of urinary conjugated metabolites of alpha-tocopherol and its use in diabetes.

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.

Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency).

Widespread genomic breaks generated by activation-induced cytidine deaminase are prevented by homologous recombination.

Nuclear positioning, higher-order folding, and gene expression of Mmu15 sequences are refractory to chromosomal translocation.

ARTEMIS stabilizes the genome and modulates proliferative responses in multipotent mesenchymal cells.

Epidermal changes associated with symptomatic resolution of dandruff: biomarkers of scalp health.

Scalp stratum corneum histamine levels: novel sampling method reveals association with itch resolution in dandruff/seborrhoeic dermatitis treatment.

Brain lipid-binding protein: a marker of differentiation in neuroblastic tumors.

Rhabdomyosarcomas in aging A/J mice.

Quantitative analysis of myo-inositol in urine, blood and nutritional supplements by high-performance liquid chromatography tandem mass spectrometry.

2D DIGE analysis of maternal plasma for potential biomarkers of Down Syndrome.

Identification of new biomarkers for Down's syndrome in maternal plasma.

The development of a peptide SRM-based tandem mass spectrometry assay for prenatal screening of Down syndrome.

Measurement of plasma B6 vitamer profiles in children with inborn errors of vitamin B6 metabolism using an LC-MS/MS method.

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.

Activation-induced cytidine deaminase-initiated off-target DNA breaks are detected and resolved during S phase.

Reference measurement procedures for Alzheimer's disease cerebrospinal fluid biomarkers: definitions and approaches with focus on amyloid β42.

Urinary conjugated α-tocopheronolactone--a biomarker of oxidative stress in children with type 1 diabetes.

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.

Progression in multiple sclerosis is associated with low endogenous NCAM.

Attenuating homologous recombination stimulates an AID-induced antileukemic effect.

Coenzyme Q10 quantification in muscle, fibroblasts and cerebrospinal fluid by liquid chromatography/tandem mass spectrometry using a novel deuterated internal standard.

A new method for the rapid diagnosis of protein N-linked congenital disorders of glycosylation.

Thymosin β4-sulfoxide attenuates inflammatory cell infiltration and promotes cardiac wound healing.

A DNA break- and phosphorylation-dependent positive feedback loop promotes immunoglobulin class-switch recombination.

Tumor suppression: putting p53 in context.

Physiological expression of the PI3K-activating mutation Pik3ca(H1047R) combines with Apc loss to promote development of invasive intestinal adenocarcinomas in mice.

Epilepsy due to PNPO mutations: genotype, environment and treatment affect presentation and outcome.

Growth associated protein (GAP-43): cloning and the development of a sensitive ELISA for neurological disorders.

Changes in regulation of human monocyte proteins in response to IgG from patients with antiphospholipid syndrome.

Pathogenic autoantibodies from patients with lupus nephritis cause reduced tyrosine phosphorylation of podocyte proteins, including tubulin.

Current applications of biomarkers in cardiomyopathies.

Residential Segregation and Overweight/Obesity Among African-American Adults: A Critical Review.

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.

Identification of novel CSF biomarkers for neurodegeneration and their validation by a high-throughput multiplexed targeted proteomic assay.

Increased cerebrospinal fluid soluble TREM2 concentration in Alzheimer's disease.

Inositol for the prevention of neural tube defects: a pilot randomised controlled trial.

Erratum to: Identification of novel CSF biomarkers for neurodegeneration and their validation by a high-throughput multiplexed targeted proteomic assay.

Inositol for prevention of neural tube defects: a pilot randomised controlled trial - CORRIGENDUM.

Formate supplementation enhances folate-dependent nucleotide biosynthesis and prevents spina bifida in a mouse model of folic acid-resistant neural tube defects.

Comparison of Two Dimension-Reduction Methods for Network Simulation Models.

Chromosomal Instability Affects the Tumorigenicity of Glioblastoma Tumor-Initiating Cells.

Quantitative Proteomic Analysis of Stratum Corneum Dysfunction in Adult Chronic Atopic Dermatitis.

Global serum glycoform profiling for the investigation of dystroglycanopathies & Congenital Disorders of Glycosylation.

Identification of novel bile acids as biomarkers for the early diagnosis of Niemann-Pick C disease.

A rapid high throughput proteomic method based on profiling of proteolytic free peptides to assess post-delivery degradation of placental tissue.

Simulating Timescale Dynamics of Network Traffic Using Homogeneous Modeling.

The embryological basis of subclinical hypertrophic cardiomyopathy.

Regulation of post-Golgi LH3 trafficking is essential for collagen homeostasis.

An optimised method for the proteomic profiling of full thickness human skin.

Exploring Collective Dynamics in Communication Networks.