Search Results - "Uhl, Katie"
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Harmine, a dual-specificity tyrosine phosphorylation-regulated kinase (DYRK) inhibitor induces caspase-mediated apoptosis in neuroblastoma
Published in Cancer cell international (07-06-2018)“…Neuroblastoma (NB) is an early childhood malignancy that arises from the developing sympathetic nervous system. Harmine is a tricyclic β-carboline alkaloid…”
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Novel de novo pathogenic variant in the ODC1 gene in a girl with developmental delay, alopecia, and dysmorphic features
Published in American journal of medical genetics. Part A (01-12-2018)“…The ornithine decarboxylase 1 (ODC1) gene plays an important role in physiological and cell developmental processes including embryogenesis, organogenesis, and…”
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Sept8/SEPTIN8 involvement in cellular structure and kidney damage is identified by genetic mapping and a novel human tubule hypoxic model
Published in Scientific reports (22-01-2021)“…Chronic kidney disease (CKD), which can ultimately progress to kidney failure, is influenced by genetics and the environment. Genes identified in human genome…”
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4
Integrated RNA Sequencing Reveals Epigenetic Impacts of Diesel Particulate Matter Exposure in Human Cerebral Organoids
Published in Developmental neuroscience (01-01-2020)“…Autism spectrum disorder (ASD) manifests early in childhood. While genetic variants increase risk for ASD, a growing body of literature has established that in…”
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Genomic, transcriptomic, and protein landscape profile of CFTR and cystic fibrosis
Published in Human genetics (01-03-2021)“…Cystic Fibrosis (CF) is caused most often by removal of amino acid 508 (Phe508del, deltaF508) within CFTR, yet dozens of additional CFTR variants are known to…”
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New K50R mutant mouse models reveal impaired hypusination of eif5a2 with alterations in cell metabolite landscape
Published in Biology open (15-03-2023)“…The eukaryotic translation initiation factor 5A1 (eIF5A1) and 5A2 (eIF5A2) are important proteins in a variety of physiological and pathophysiological…”
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Virus-induced genetics revealed by multidimensional precision medicine transcriptional workflow applicable to COVID-19
Published in Physiological genomics (01-06-2020)“…Precision medicine requires the translation of basic biological understanding to medical insights, mainly applied to characterization of each unique patient…”
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Emerging Role of ODC1 in Neurodevelopmental Disorders and Brain Development
Published in Genes (25-03-2021)“…Ornithine decarboxylase 1 ( gene) has been linked through gain-of-function variants to a rare disease featuring developmental delay, alopecia, macrocephaly,…”
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Polyamine Biosynthetic Pathway as a Drug Target for Osteosarcoma Therapy
Published in Medical sciences (Basel) (16-08-2018)“…Osteosarcoma (OS) is the most common bone tumor in children. Polyamines (PAs) are ubiquitous cations involved in many cell processes including tumor…”
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10
The complex, dynamic SpliceOme of the small GTPase transcripts altered by technique, sex, genetics, tissue specificity, and RNA base editing
Published in Frontiers in cell and developmental biology (17-11-2022)“…The small GTPase family is well-studied in cancer and cellular physiology. With 162 annotated human genes, the family has a broad expression throughout cells…”
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NAA10 variant in 38-week-gestation male patient: a case study
Published in Cold Spring Harbor molecular case studies (01-12-2020)“…We present a male patient born at 38-wk gestation with rhizomelic shortening of extremities, hepatomegaly, ventriculomegaly, heart failure, severely depressed…”
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Differential Transcriptomic Signatures of Small Airway Cell Cultures Derived from IPF and COVID-19-Induced Exacerbation of Interstitial Lung Disease
Published in Cells (Basel, Switzerland) (01-10-2023)“…Idiopathic pulmonary fibrosis (IPF) is a pathological condition wherein lung injury precipitates the deposition of scar tissue, ultimately leading to a decline…”
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Transcriptional analysis of the multiple Sry genes and developmental program at the onset of testis differentiation in the rat
Published in Biology of sex differences (12-05-2020)“…The commonly used laboratory rat, Rattus norvegicus, is unique in having multiple Sry gene copies found on the Y chromosome, with different copies encoding…”
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Advanced Sequencing of Kidney Tubule Hypoxia Regulated Epithelial‐to‐Mesenchymal Transition
Published in The FASEB journal (01-05-2021)“…Hypoxia is a known regulator of epithelial‐to‐mesenchymal transition in kidney tubule cells. However, culture systems have struggled to observe these…”
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Increased Expression of ATP12A in Small Airway Epithelia of Post-COVID-19 Pulmonary Fibrosis
Published in American journal of respiratory cell and molecular biology (01-06-2024)Get more information
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Published anti-SARS-CoV-2 in vitro hits share common mechanisms of action that synergize with antivirals
Published in Briefings in bioinformatics (05-11-2021)“…Abstract The global efforts in the past year have led to the discovery of nearly 200 drug repurposing candidates for COVID-19. Gaining more insights into their…”
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Abstract 1902: Potential role of DYRK family kinases in harmine-induced apoptosis in neuroblastoma
Published in Cancer research (Chicago, Ill.) (01-07-2018)“…Abstract The purpose of this study was to determine the effect of the natural product Harmine in human neuroblastoma (NB). NB is an early childhood malignancy…”
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634: Acute and Recovery Phase Viral Bronchiolitis: Balancing Precision vs. Cohort Transcriptomic Analysis
Published in Critical care medicine (01-01-2021)Get full text
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19
Targeting ATP12A, a Nongastric Proton Pump α Subunit, for Idiopathic Pulmonary Fibrosis Treatment
Published in American journal of respiratory cell and molecular biology (01-06-2023)“…Idiopathic pulmonary fibrosis (IPF) is a pathological condition of unknown etiology that results from injury to the lung and an ensuing fibrotic response that…”
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Contributions of ATP12A, a non-gastric proton pump alpha subunit, to the pathogenesis of idiopathic pulmonary fibrosis
Published in Physiology (Bethesda, Md.) (01-05-2023)“…Abstract only Background: Idiopathic Pulmonary Fibrosis (IPF) is a pathological condition of unknown etiology which results from injury to the lung and an…”
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