Search Results - "Griswold, Anthony"
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The intricate cellular ecosystem of human peripheral veins as revealed by single-cell transcriptomic analysis
Published in PloS one (11-01-2024)“…The venous system has been historically understudied despite its critical roles in blood distribution, heart function, and systemic immunity. This study…”
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Whole Exome Sequencing Identifies a Rare CFTR Mutation in Brothers With Anomalies of the Vas Deferens: A Case Study
Published in Urology (Ridgewood, N.J.) (01-05-2023)“…Congenital bilateral absence of the vas deferens (CBAVD) occurs in almost all men with cystic fibrosis. Prevailing theories on this pathophysiology relate to…”
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Whole-genome sequencing reveals complex genomic features underlying anti-CD19 CAR T-cell treatment failures in lymphoma
Published in Blood (04-08-2022)“…CD19-directed chimeric antigen receptor (CAR-19) T cells are groundbreaking immunotherapies approved for use against large B-cell lymphomas. Although host…”
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Identification of a genetic variant underlying familial cases of recurrent benign paroxysmal positional vertigo
Published in PloS one (06-05-2021)“…Benign paroxysmal positional vertigo (BPPV) is the most common cause of vertigo in humans, yet the molecular etiology is currently unknown. Evidence suggests…”
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Absence of both MGME1 and POLG EXO abolishes mtDNA whereas absence of either creates unique mtDNA duplications
Published in The Journal of biological chemistry (01-04-2024)“…Both POLG and MGME1 are needed for mitochondrial DNA (mtDNA) maintenance in animal cells. POLG, the primary replicative polymerase of the mitochondria, has an…”
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Single-cell resolution analysis of the human pancreatic ductal progenitor cell niche
Published in Proceedings of the National Academy of Sciences - PNAS (19-05-2020)“…We have described multipotent progenitor-like cells within the major pancreatic ducts (MPDs) of the human pancreas. They express PDX1, its surrogate surface…”
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Obesity-Dependent Adipokine Chemerin Suppresses Fatty Acid Oxidation to Confer Ferroptosis Resistance
Published in Cancer discovery (01-08-2021)“…Clear cell renal cell carcinoma (ccRCC) is characterized by accumulation of neutral lipids and adipogenic transdifferentiation. We assessed adipokine…”
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coMethDMR: accurate identification of co-methylated and differentially methylated regions in epigenome-wide association studies with continuous phenotypes
Published in Nucleic acids research (26-09-2019)“…Recent technology has made it possible to measure DNA methylation profiles in a cost-effective and comprehensive genome-wide manner using array-based…”
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Whole Exome Sequencing Identifies a Rare Nonsense Mutation in FAM47C as a Possible Cause of Severe Oligospermia in Brothers With Varicocele
Published in Urology (Ridgewood, N.J.) (01-07-2019)“…Varicocele is a common cause of impaired semen parameters in men with infertility. Here, we investigated genetic variants as possible causes of varicocele with…”
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A locus at 19q13.31 significantly reduces the ApoE ε4 risk for Alzheimer's Disease in African Ancestry
Published in PLoS genetics (01-07-2022)“…African descent populations have a lower Alzheimer disease risk from ApoE ε4 compared to other populations. Ancestry analysis showed that the difference in…”
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Therapeutic Perspectives for Inflammation and Senescence in Osteoarthritis Using Mesenchymal Stem Cells, Mesenchymal Stem Cell-Derived Extracellular Vesicles and Senolytic Agents
Published in Cells (Basel, Switzerland) (18-05-2023)“…Osteoarthritis (OA) is the most common cause of disability worldwide among the elderly. Alarmingly, the incidence of OA in individuals less than 40 years of…”
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Evaluation of copy number variations reveals novel candidate genes in autism spectrum disorder-associated pathways
Published in Human molecular genetics (01-08-2012)“…Autism spectrum disorders (ASDs) are highly heritable, yet relatively few associated genetic loci have been replicated. Copy number variations (CNVs) have been…”
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Infrapatellar Fat Pad/Synovium Complex in Early-Stage Knee Osteoarthritis: Potential New Target and Source of Therapeutic Mesenchymal Stem/Stromal Cells
Published in Frontiers in bioengineering and biotechnology (28-07-2020)“…The infrapatellar fat pad (IFP) has until recently been viewed as a densely vascular and innervated intracapsular/extrasynovial tissue with biomechanical roles…”
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A haptoglobin (HP) structural variant alters the effect of APOE alleles on Alzheimer's disease
Published in Alzheimer's & dementia (01-11-2023)“…Haptoglobin (HP) is an antioxidant of apolipoprotein E (APOE), and previous reports have shown HP binds with APOE and amyloid beta (Aβ) to aid its clearance. A…”
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Utilizing RNA sequencing to identify gene expression markers of stroke-causing thrombi origin: A pilot study
Published in Journal of stroke and cerebrovascular diseases (01-05-2024)“…Stroke embolic source have an unknown origin in 30-40% of cases. Mechanical thrombectomy for acute large vessel occlusion stroke has provided us with a method…”
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Alveolar epithelial cell growth hormone releasing hormone receptor in alveolar epithelial inflammation
Published in Experimental lung research (31-12-2023)Get full text
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A-Kinase Anchor Protein 1 deficiency causes mitochondrial dysfunction in mouse model of hyperoxia induced acute lung injury
Published in Frontiers in pharmacology (03-10-2022)“…Background: Critically ill patients on supplemental oxygen therapy eventually develop acute lung injury (ALI). Reactive oxygen species (ROS) produced during…”
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Cotargeting Phosphoinositide 3-Kinase and Focal Adhesion Kinase Pathways Inhibits Proliferation of NF2 Schwannoma Cells
Published in Molecular cancer therapeutics (01-11-2023)“…Neurofibromatosis Type 2 (NF2) is a tumor predisposition syndrome caused by germline inactivating mutations in the NF2 gene encoding the merlin tumor…”
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Transcriptomics of Human Arteriovenous Fistula Failure: Genes Associated With Nonmaturation
Published in American journal of kidney diseases (01-07-2019)“…Improving arteriovenous fistula (AVF) outcomes requires better understanding of the biology underlying maturation or failure. Our current knowledge of…”
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A noise-reduction GWAS analysis implicates altered regulation of neurite outgrowth and guidance in autism
Published in Molecular autism (19-01-2011)“…Genome-wide Association Studies (GWAS) have proved invaluable for the identification of disease susceptibility genes. However, the prioritization of candidate…”
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