A5034845768- Epigenetics and DNA Methylation
- Hidradenitis Suppurativa and Treatments
- Congenital heart defects research
- Congenital Heart Disease Studies
- Prenatal Screening and Diagnostics
- Genomic variations and chromosomal abnormalities
- Congenital limb and hand anomalies
- Colorectal and Anal Carcinomas
- Ophthalmology and Visual Impairment Studies
- Corneal surgery and disorders
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Hedgehog Signaling Pathway Studies
- Sexual Differentiation and Disorders
- Cancer Genomics and Diagnostics
- Prenatal Substance Exposure Effects
- Neonatal Respiratory Health Research
- Autism Spectrum Disorder Research
- Genetic Syndromes and Imprinting
- Urological Disorders and Treatments
- Tracheal and airway disorders
- Diet and metabolism studies
- Genetics and Neurodevelopmental Disorders
- Congenital Diaphragmatic Hernia Studies
- Connexins and lens biology
- Cancer and Skin Lesions
University of Pittsburgh
2024-2025
Beaumont Hospital, Royal Oak
2018-2024
Pittsburg State University
2024
Children's Hospital of Pittsburgh
2024
Oakland University
2015-2023
Beaumont Health
2021-2022
University of Geneva
1997-2012
Nebraska Medical Center
2012
University of Nebraska Medical Center
2012
Creighton University
2009-2010
One in seven couples worldwide are infertile, and male factor infertility accounts for approximately 30%–50% of these cases. Although many genes known to be essential gametogenesis, there surprisingly few monogenic mutations that have been conclusively demonstrated cause human spermatogenic failure. A nuclear receptor, NR5A1 (also called steroidogenic 1), is a key transcriptional regulator involved the hypothalamic-pituitary-steroidogenic axis, it expressed tissue developing adult gonad....
Keratoconus (KTCN) is a noninflammatory thinning and anterior protrusion of the cornea that results in steepening distortion cornea, altered refractive powers, reduced visual acuity. Several loci responsible for familial form KTCN have been mapped, however; no mutations any genes identified these loci. There also evidence VSX1 SOD1 may be involved etiology KTCN. The purpose this study was to verify available data identify new keratoconus susceptibility locus.KTCN without other ocular or...
<h3>Background</h3> Split-hand/foot malformation (SHFM)—also known as ectrodactyly—is a congenital disorder characterised by severe malformations of the distal limbs affecting central rays hands and/or feet. A distinct entity termed SHFLD presents with SHFM and long bone deficiency. Mouse models suggest that defect apical ectodermal ridge leads to phenotype. Although six different loci/mutations (SHFM1–6) have been associated SHFM, underlying cause in large number cases is still unresolved....
Congenital heart defect (CHD) is the most common cause of death from congenital anomaly. Among several candidate epigenetic mechanisms, DNA methylation may play an important role in etiology CHDs. We conducted a genome-wide analysis using Illumina Infinium 450k human assay cohort 24 newborns who had aortic valve stenosis (AVS), with gestational-age matched controls. The study identified significantly-altered CpG at 59 sites 52 genes AVS subjects as compared to controls (either...
The etiology of cerebral palsy (CP) is complex and remains inadequately understood. Early detection CP an important clinical objective as this improves long term outcomes. We performed genome-wide DNA methylation analysis to identify epigenomic predictors in newborns investigate disease pathogenesis. Methylation newborn blood using Illumina HumanMethylation450K array was 23 cases 21 unaffected controls. There were 230 significantly differentially-methylated CpG loci 258 genes. Each locus had...
Ventricular Septal Defect (VSD), the most common congenital heart defect, is characterized by a hole in septum between right and left ventricles. The pathogenesis of VSD unknown clinical cases. There paucity data relevant to epigenetic changes VSD. placenta fetal tissue crucial cardiac development potentially useful surrogate for evaluating tissue. To understand mechanisms that may play role VSD, genome-wide DNA methylation assay on placentas 8 term subjects with isolated no known or...
Background: Despite extensive efforts, significant gaps remain in our understanding of Alzheimer’s disease (AD) pathophysiology. Novel approaches using circulating cell-free DNA (cfDNA) have the potential to revolutionize neurodegenerative disorders. Methods: We performed methylation profiling cfDNA from AD patients and compared them cognitively normal controls. Six Artificial Intelligence (AI) platforms were utilized for diagnosis while enrichment analysis was used elucidate pathogenesis...
Abstract Background Hidradenitis suppurativa (HS) is a chronic, systemic, inflammatory skin condition with elusive pathogenesis that affects therapeutic intervention directly. Objective To characterize epigenetic variations in cytokines genes contributing to HS. Methods Epigenome‐wide DNA methylation profiling the Illumina Epic array was performed on blood samples from 24 HS patients and age‐ sex‐matched controls explore changes cytokine genes. Results We identified 170 including 27...
Precision neurology combines high-throughput technologies and statistical modeling to identify novel disease pathways predictive biomarkers in Alzheimer's (AD). Brain cytochrome P450 (CYP) genes are major regulators of cholesterol, sex hormone, xenobiotic metabolism, they could play important roles neurodegenerative disorders. Increasing evidence suggests that epigenetic factors contribute AD development. We evaluated cytosine ('CpG')-based DNA methylation changes using circulating cell-free...
Background/Objectives: In recent times, epigenetics alterations in Hidradenitis suppurativa (HS) have been explored and exploited translationally to guide investigation of new therapeutic approaches. On the other hand, long noncoding RNAs (LncRNAs), main regulators epigenetic status human genome, scarcely investigated, notwithstanding their potential relevance broad pathogenesis comprehension. Here, we aim explore methylation pattern lncRNAs HS. Methods: this case-control study, 24 HS...
Advances in omics and computational Artificial Intelligence (AI) have been said to be key meeting the objectives of precision cardiovascular medicine. The focus medicine includes a better assessment disease risk understanding mechanisms. Our objective was determine whether significant epigenetic changes occur isolated, non-syndromic CoA. Further, we evaluated AI analysis DNA methylation for prediction CoA.Genome-wide newborn blood performed 24 CoA cases 16 controls using Illumina...
Hidradenitis suppurativa (HS) is a chronic inflammatory disease influenced by genetics, non-genetic and environmental factors that modulate miRNA expression. Currently, no data are available for HS. In this study, we profiled DNA methylation patterns of genes associated with HS susceptibility.Identify gene profiles susceptibility. This study examined the DNAs from 24 healthy controls patients using Illumina Infinium MethylationEPIC BeadChip array analysis. Methylation were analysed KEGG...