Devin Absher
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View article: Hemophagocytic Lymphohistiocytosis Gene Variants in Severe COVID-19 Cytokine Storm Syndrome
Hemophagocytic Lymphohistiocytosis Gene Variants in Severe COVID-19 Cytokine Storm Syndrome Open
Severe COVID-19 infection resulting in hospitalization shares features with cytokine storm syndromes (CSSs) such as hemophagocytic lymphohistiocytosis (HLH). Various published criteria were explored to define CSS among patients (n = 32) en…
View article: l-2-Hydroxyglutarate remodeling of the epigenome and epitranscriptome creates a metabolic vulnerability in kidney cancer models
l-2-Hydroxyglutarate remodeling of the epigenome and epitranscriptome creates a metabolic vulnerability in kidney cancer models Open
Tumor cells are known to undergo considerable metabolic reprogramming to meet their unique demands and drive tumor growth. At the same time, this reprogramming may come at a cost with resultant metabolic vulnerabilities. The small molecule…
View article: Blood DNA methylation sites predict death risk in a longitudinal study of 12,300 individuals
Blood DNA methylation sites predict death risk in a longitudinal study of 12,300 individuals Open
DNA methylation has fundamental roles in gene programming and aging that may help predict mortality. However, no large-scale study has investigated whether site-specific DNA methylation predicts all-cause mortality. We used the Illumina-Hu…
View article: Blood Leukocyte DNA Methylation Predicts Risk of Future Myocardial Infarction and Coronary Heart Disease
Blood Leukocyte DNA Methylation Predicts Risk of Future Myocardial Infarction and Coronary Heart Disease Open
BACKGROUND: DNA methylation is implicated in coronary heart disease (CHD), but current evidence is based on small, cross-sectional studies. We examined blood DNA methylation in relation to incident CHD across multiple prospective cohorts. …
View article: Association of dietary folate and Vitamin B-12 intake with genome-wide DNA methylation in blood: A large-scale epigenome-wide association analysis in 5841 individuals
Association of dietary folate and Vitamin B-12 intake with genome-wide DNA methylation in blood: A large-scale epigenome-wide association analysis in 5841 individuals Open
Background: Folate and vitamin B-12 are essential micronutrients involved in the donation of methyl groups in cellular metabolism. However, associations between intake of these nutrients and genome-wide DNA methylation levels have not been…
View article: Metabolite profiles and DNA methylation in metabolic syndrome: a two-sample, bidirectional Mendelian randomization
Metabolite profiles and DNA methylation in metabolic syndrome: a two-sample, bidirectional Mendelian randomization Open
Introduction: Metabolic syndrome (MetS) increases the risk of cardiovascular disease and death. Previous ‘-omics’ studies have identified dysregulated serum metabolites and aberrant DNA methylation in the setting of MetS. However, the rela…
View article: 338 The Alabama Genomic Health Initiative: Integrating Genomic Medicine into Primary Care
338 The Alabama Genomic Health Initiative: Integrating Genomic Medicine into Primary Care Open
OBJECTIVES/GOALS: Supported by the State of Alabama, the Alabama Genomic Health Initiative (AGHI) is aimed at preventing and treating common conditions with a genetic basis. This joint UAB Medicine-HudsonAlpha Institute for Biotechnology e…
View article: Supplemental figures from Biochemical and Epigenetic Insights into L-2-Hydroxyglutarate, a Potential Therapeutic Target in Renal Cancer
Supplemental figures from Biochemical and Epigenetic Insights into L-2-Hydroxyglutarate, a Potential Therapeutic Target in Renal Cancer Open
Supplemental figures
View article: Supplemental Table S1 from Biochemical and Epigenetic Insights into L-2-Hydroxyglutarate, a Potential Therapeutic Target in Renal Cancer
Supplemental Table S1 from Biochemical and Epigenetic Insights into L-2-Hydroxyglutarate, a Potential Therapeutic Target in Renal Cancer Open
This table reports L2HGDH mRNA expression as a function of 14q Status
View article: Supplemental Table S1 from Biochemical and Epigenetic Insights into L-2-Hydroxyglutarate, a Potential Therapeutic Target in Renal Cancer
Supplemental Table S1 from Biochemical and Epigenetic Insights into L-2-Hydroxyglutarate, a Potential Therapeutic Target in Renal Cancer Open
This table reports L2HGDH mRNA expression as a function of 14q Status
View article: Data from Biochemical and Epigenetic Insights into L-2-Hydroxyglutarate, a Potential Therapeutic Target in Renal Cancer
Data from Biochemical and Epigenetic Insights into L-2-Hydroxyglutarate, a Potential Therapeutic Target in Renal Cancer Open
Purpose:Elevation of L-2-hydroxylgutarate (L-2-HG) in renal cell carcinoma (RCC) is due in part to reduced expression of L-2-HG dehydrogenase (L2HGDH). However, the contribution of L-2-HG to renal carcinogenesis and insight into the bioche…
View article: Data from Biochemical and Epigenetic Insights into L-2-Hydroxyglutarate, a Potential Therapeutic Target in Renal Cancer
Data from Biochemical and Epigenetic Insights into L-2-Hydroxyglutarate, a Potential Therapeutic Target in Renal Cancer Open
Purpose:Elevation of L-2-hydroxylgutarate (L-2-HG) in renal cell carcinoma (RCC) is due in part to reduced expression of L-2-HG dehydrogenase (L2HGDH). However, the contribution of L-2-HG to renal carcinogenesis and insight into the bioche…
View article: Supplemental figures from Biochemical and Epigenetic Insights into L-2-Hydroxyglutarate, a Potential Therapeutic Target in Renal Cancer
Supplemental figures from Biochemical and Epigenetic Insights into L-2-Hydroxyglutarate, a Potential Therapeutic Target in Renal Cancer Open
Supplemental figures
View article: Genetic associations with age at dementia onset in the <i>PSEN1 E280A</i> Colombian kindred
Genetic associations with age at dementia onset in the <i>PSEN1 E280A</i> Colombian kindred Open
INTRODUCTION Genetic associations with Alzheimer's disease (AD) age at onset (AAO) could reveal genetic variants with therapeutic applications. We present a large Colombian kindred with autosomal dominant AD (ADAD) as a unique opportunity …
View article: Distinct genome-wide DNA methylation and gene expression signatures in classical monocytes from African American patients with systemic sclerosis
Distinct genome-wide DNA methylation and gene expression signatures in classical monocytes from African American patients with systemic sclerosis Open
Background Systemic sclerosis (SSc) is a multisystem autoimmune disorder that has an unclear etiology and disproportionately affects women and African Americans. Despite this, African Americans are dramatically underrepresented in SSc rese…
View article: Differentially Methylated DNA Regions and Left Ventricular Hypertrophy in African Americans: A HyperGEN Study
Differentially Methylated DNA Regions and Left Ventricular Hypertrophy in African Americans: A HyperGEN Study Open
Left ventricular (LV) hypertrophy (LVH) is an independent risk factor for cardiovascular disease, and African Americans experience a disparate high risk of LVH. Genetic studies have identified potential candidate genes and variants related…
View article: Distinct genome-wide DNA methylation and gene expression signatures in classical monocytes from African American patients with systemic sclerosis
Distinct genome-wide DNA methylation and gene expression signatures in classical monocytes from African American patients with systemic sclerosis Open
Background Systemic sclerosis (SSc) is a multisystem autoimmune disorder that has an unclear etiology and disproportionately affects women and African Americans. Despite this, African Americans are dramatically underrepresented in SSc rese…
View article: Phase I Study of High-Dose <scp>l</scp>-Methylfolate in Combination with Temozolomide and Bevacizumab in Recurrent <i>IDH</i> Wild-Type High-Grade Glioma
Phase I Study of High-Dose <span>l</span>-Methylfolate in Combination with Temozolomide and Bevacizumab in Recurrent <i>IDH</i> Wild-Type High-Grade Glioma Open
Isocitrate dehydrogenase (IDH) mutations in low-grade gliomas (LGG) result in improved survival and DNA hypermethylation compared with IDH wild-type LGGs. IDH-mutant LGGs become hypomethylated during progression. It is uncertain whether me…
View article: STAT3-mediated allelic imbalance of novel genetic variant rs1047643 and B cell specific super-enhancer in association with systemic lupus erythematosus
STAT3-mediated allelic imbalance of novel genetic variant rs1047643 and B cell specific super-enhancer in association with systemic lupus erythematosus Open
Mapping of allelic imbalance (AI) at heterozygous loci has the potential to establish links between genetic risk for disease and biological function. Leveraging multi-omics data for AI analysis and functional annotation, we discovered a no…
View article: Predicting future from past: The genomic basis of recurrent and rapid stickleback evolution
Predicting future from past: The genomic basis of recurrent and rapid stickleback evolution Open
We perform an extensive genomic analysis of freshwater adaption in threespine stickleback to predict evolution in other species.