Search Results - "Coufal, Nicole"
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Primary Cilia in the Developing and Mature Brain
Published in Neuron (Cambridge, Mass.) (07-05-2014)“…Primary cilia were the largely neglected nonmotile counterparts of their better-known cousin, the motile cilia. For years these nonmotile cilia were considered…”
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Nicole G. Coufal
Published in Neuron (Cambridge, Mass.) (01-11-2023)“…Physician-scientist Nicole Coufal cares for critically ill children in the pediatric ICU and studies microglial contributions to neurodevelopmental and…”
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An environment-dependent transcriptional network specifies human microglia identity
Published in Science (American Association for the Advancement of Science) (23-06-2017)“…Microglia play essential roles in central nervous system (CNS) homeostasis and influence diverse aspects of neuronal function. However, the transcriptional…”
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Brain cell type-specific enhancer-promoter interactome maps and disease - risk association
Published in Science (American Association for the Advancement of Science) (29-11-2019)“…Noncoding genetic variation is a major driver of phenotypic diversity, but functional interpretation is challenging. To better understand common genetic…”
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Emerging Role of Plasma Microbial Cell-free DNA in the Diagnosis of Pediatric Mucormycosis
Published in The Pediatric infectious disease journal (01-07-2024)“…Mucormycosis is a rare and devastating angioinvasive infection that can be challenging to diagnose due to the low sensitivity of current noninvasive…”
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L1 retrotransposition in neurons is modulated by MeCP2
Published in Nature (London) (18-11-2010)“…Long interspersed nuclear elements-1 (LINE-1 or L1s) are abundant retrotransposons that comprise approximately 20% of mammalian genomes. Active L1…”
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Application of cell-free plasma next-generation sequencing technology in the diagnosis and management of pediatric meningitis
Published in Journal of microbiological methods (01-02-2024)“…This retrospective study evaluates the clinical utility of CFPNGS in the diagnosis and management of pediatric meningitis. CFPNGS identified a causative…”
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Development of a Chimeric Model to Study and Manipulate Human Microglia In Vivo
Published in Neuron (Cambridge, Mass.) (25-09-2019)“…iPSC-derived microglia offer a powerful tool to study microglial homeostasis and disease-associated inflammatory responses. Yet, microglia are highly sensitive…”
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Increased Peripheral Blood Neutrophil Activation Phenotypes and Neutrophil Extracellular Trap Formation in Critically Ill Coronavirus Disease 2019 (COVID-19) Patients: A Case Series and Review of the Literature
Published in Clinical infectious diseases (11-02-2022)“…Abstract Background Increased inflammation has been well defined in coronavirus disease 2019 (COVID-19), while definitive pathways driving severe forms of this…”
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Vaccine Strain Varicella Infection in an Infant With Previously Undiagnosed Perinatal Human Immunodeficiency Type-1 Infection
Published in The Pediatric infectious disease journal (01-04-2019)“…A 15-month-old infant with a history of developmental delay and weight loss with multiple hospital admissions was diagnosed with a pustular lesion identified…”
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CLP1 Founder Mutation Links tRNA Splicing and Maturation to Cerebellar Development and Neurodegeneration
Published in Cell (24-04-2014)“…Neurodegenerative diseases can occur so early as to affect neurodevelopment. From a cohort of more than 2,000 consanguineous families with childhood…”
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An RNA code for the FOX2 splicing regulator revealed by mapping RNA-protein interactions in stem cells
Published in Nature structural & molecular biology (01-02-2009)“…Using CLIP-seq technology, the genome-wide binding sites of the FOX2 splicing regulator in human embryonic stem cells (hESCs) are now identified. Further work…”
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Use of Plasma Metagenomic Next-generation Sequencing for Pathogen Identification in Pediatric Endocarditis
Published in The Pediatric infectious disease journal (01-05-2021)“…Pediatric infective endocarditis incurs significant morbidity and generally occurs among children with underlying heart disease. Identification of a pathogen…”
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L1 retrotransposition in human neural progenitor cells
Published in Nature (London) (27-08-2009)“…Shaping the individual brain It is known that LINE-1 (long interspersed element-1) retrotransposons can move throughout the genomes of adult rat neural…”
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Human microglial models to study host–virus interactions
Published in Experimental neurology (01-05-2023)“…Microglia, the resident macrophage of the central nervous system, are increasingly recognized as contributing to diverse aspects of human development, health,…”
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Rocky Mountain Spotted Fever in Children along the US‒Mexico Border, 2017-2023
Published in Emerging infectious diseases (01-11-2024)“…Rocky mountain spotted fever (RMSF) causes significant illness and death in children. Although historically rare in California, USA, RMSF is endemic in areas…”
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Microglial lipid droplet accumulation in tauopathy brain is regulated by neuronal AMPK
Published in Cell metabolism (04-06-2024)“…The accumulation of lipid droplets (LDs) in aging and Alzheimer's disease brains is considered a pathological phenomenon with unresolved cellular and molecular…”
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Community-acquired pneumonia in children: cell-free plasma sequencing for diagnosis and management
Published in Diagnostic microbiology and infectious disease (01-06-2019)“…Community-acquired pneumonia (CAP) is a common cause of pediatric hospital admission. Empiric antibiotic therapy for hospitalized children with serious CAP now…”
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The prototypical interferonopathy: Aicardi‐Goutières syndrome from bedside to bench
Published in Immunological reviews (29-10-2024)“…Summary Aicardi‐Goutières syndrome (AGS) is a progressive genetic encephalopathy caused by pathogenic mutations in genes controlling cellular anti‐viral…”
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Predictors of successful discontinuation of continuous kidney replacement therapy in a pediatric cohort
Published in Pediatric nephrology (Berlin, West) (01-07-2023)“…Background Recognizing the optimal time to discontinue continuous kidney replacement therapy (CKRT) is necessary to advance patient recovery and mitigate…”
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