Search Results - "Swift, Amy"
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Multiparameter metabolic analysis reveals a close link between attenuated mitochondrial bioenergetic function and enhanced glycolysis dependency in human tumor cells
Published in American Journal of Physiology: Cell Physiology (01-01-2007)“…Increased conversion of glucose to lactic acid associated with decreased mitochondrial respiration is a unique feature of tumors first described by Otto…”
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Integrative analysis of gene expression, DNA methylation, physiological traits, and genetic variation in human skeletal muscle
Published in Proceedings of the National Academy of Sciences - PNAS (28-05-2019)“…We integrate comeasured gene expression and DNA methylation (DNAme) in 265 human skeletal muscle biopsies from the FUSION study with >7 million genetic…”
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Genome-Wide Association Study of Type 2 Diabetes in Finns Detects Multiple Susceptibility Variants
Published in Science (American Association for the Advancement of Science) (01-06-2007)“…Identifying the genetic variants that increase the risk of type 2 diabetes (T2D) in humans has been a formidable challenge. Adopting a genome-wide association…”
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Systematic comparison of three genomic enrichment methods for massively parallel DNA sequencing
Published in Genome research (01-10-2010)“…Massively parallel DNA sequencing technologies have greatly increased our ability to generate large amounts of sequencing data at a rapid pace. Several methods…”
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Autosomal Dominant Diabetes Arising From a Wolfram Syndrome 1 Mutation
Published in Diabetes (New York, N.Y.) (01-11-2013)“…We used an unbiased genome-wide approach to identify exonic variants segregating with diabetes in a multigenerational Finnish family. At least eight members of…”
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Human pancreatic islet microRNAs implicated in diabetes and related traits by large-scale genetic analysis
Published in Proceedings of the National Academy of Sciences - PNAS (14-02-2023)“…Genetic studies have identified ≥240 loci associated with the risk of type 2 diabetes (T2D), yet most of these loci lie in non-coding regions, masking the…”
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Functional interrogation of twenty type 2 diabetes-associated genes using isogenic human embryonic stem cell-derived β-like cells
Published in Cell metabolism (07-11-2023)“…Genetic studies have identified numerous loci associated with type 2 diabetes (T2D), but the functional roles of many loci remain unexplored. Here, we…”
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Hydroa vacciniforme–like lymphoproliferative disorder: an EBV disease with a low risk of systemic illness in whites
Published in Blood (27-06-2019)“…Patients with classic hydroa vacciniforme–like lymphoproliferative disorder (HVLPD) typically have high levels of Epstein-Barr virus (EBV) DNA in T cells…”
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Modeling islet enhancers using deep learning identifies candidate causal variants at loci associated with T2D and glycemic traits
Published in Proceedings of the National Academy of Sciences - PNAS (29-08-2023)“…Genetic association studies have identified hundreds of independent signals associated with type 2 diabetes (T2D) and related traits. Despite these successes,…”
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Single-cell transcriptomic profiling of human pancreatic islets reveals genes responsive to glucose exposure over 24 h
Published in Diabetologia (01-10-2024)“…Aims/hypothesis Disruption of pancreatic islet function and glucose homeostasis can lead to the development of sustained hyperglycaemia, beta cell…”
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Common variants at 30 loci contribute to polygenic dyslipidemia
Published in Nature genetics (01-01-2009)“…Sekar Kathiresan et al . report genome-wide association studies for polygenic dyslipidemia. From a meta-analysis of seven genome-wide association studies and…”
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Newly identified loci that influence lipid concentrations and risk of coronary artery disease
Published in Nature genetics (01-02-2008)“…To identify genetic variants influencing plasma lipid concentrations, we first used genotype imputation and meta-analysis to combine three genome-wide scans…”
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Use of microarray hybrid capture and next-generation sequencing to identify the anatomy of a transgene
Published in Nucleic acids research (01-04-2013)“…Transgenic animals are extensively used to model human disease. Typically, the transgene copy number is estimated, but the exact integration site and…”
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Enhancing Human Health and Wellbeing through Sustainably and Equitably Unlocking a Healthy Ocean's Potential
Published in Annals of global health (01-01-2024)“…A healthy ocean is essential for human health, and yet the links between the ocean and human health are often overlooked. By providing new medicines,…”
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The Role of Race in Admission to a Dual Diagnosis Unit Versus General Inpatient Psychiatric Unit in those with Active Substance Use
Published in Journal of scientific innovation in medicine (25-05-2021)“…Psychiatric disorders are highly comorbid with substance use disorders, and the presence of co-occurring conditions increases severity of illness and…”
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KSR2 Is an Essential Regulator of AMP Kinase, Energy Expenditure, and Insulin Sensitivity
Published in Cell metabolism (01-11-2009)“…Kinase suppressors of Ras 1 and 2 (KSR1 and KSR2) function as molecular scaffolds to potently regulate the MAP kinases ERK1/2 and affect multiple cell fates…”
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Variations in the G6PC2/ABCB11 genomic region are associated with fasting glucose levels
Published in The Journal of clinical investigation (01-07-2008)“…Identifying the genetic variants that regulate fasting glucose concentrations may further our understanding of the pathogenesis of diabetes. We therefore…”
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Re-sequencing expands our understanding of the phenotypic impact of variants at GWAS loci
Published in PLoS genetics (01-01-2014)“…Genome-wide association studies (GWAS) have identified >500 common variants associated with quantitative metabolic traits, but in aggregate such variants…”
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Single-cell transcriptomics from human pancreatic islets: sample preparation matters
Published in Biology methods and protocols (2020)“…Abstract Single-cell RNA sequencing (scRNA-seq) of human primary tissues is a rapidly emerging tool for investigating human health and disease at the molecular…”
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Correlation of rare coding variants in the gene encoding human glucokinase regulatory protein with phenotypic, cellular, and kinetic outcomes
Published in The Journal of clinical investigation (01-01-2012)“…Defining the genetic contribution of rare variants to common diseases is a major basic and clinical science challenge that could offer new insights into…”
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