Jill L. Silverman
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View article: Ending publication bias: A values-based approach to surface null and negative results
Ending publication bias: A values-based approach to surface null and negative results Open
Sharing knowledge is a basic tenet of the scientific community, yet publication bias arising from the reluctance or inability to publish negative or null results remains a long-standing and deep-seated problem, albeit one that varies in se…
View article: Epigenetic Reactivation of CDKL5 Rescues CDKL5 Deficiency Disorder
Epigenetic Reactivation of CDKL5 Rescues CDKL5 Deficiency Disorder Open
CDKL5 deficiency disorder (CDD) is a severe X-linked neurodevelopmental condition characterized by early-onset epilepsy, intellectual disability, and motor dysfunction. Here, we present a dual-effector CRISPR-based epigenome editing platfo…
View article: Novel Gain of Function Mouse Model of KCNT1-Related Epilepsy
Novel Gain of Function Mouse Model of KCNT1-Related Epilepsy Open
KCNT1 -related epilepsy is an autosomal dominant neurodevelopmental disorder with at least 64 known human variants, each with unique electrophysiological and epileptic characteristics. A multi-disciplinary collaboration generated a novel m…
View article: A preclinical pig model of Angelman syndrome mirrors the early developmental trajectory of the human condition
A preclinical pig model of Angelman syndrome mirrors the early developmental trajectory of the human condition Open
Angelman syndrome is a neurodevelopmental disorder characterized by severe motor and cognitive deficits. It is caused by the loss of the maternally inherited allele of the imprinted ubiquitin-protein ligase E3A ( UBE3A ) gene. Rodent model…
View article: Acute administration of lovastatin had no pronounced effect on motor abilities, motor coordination, gait nor simple cognition in a mouse model of Angelman syndrome
Acute administration of lovastatin had no pronounced effect on motor abilities, motor coordination, gait nor simple cognition in a mouse model of Angelman syndrome Open
Translational research is needed to discover pharmacological targets and treatments for the diagnostic behavioral domains of neurodevelopmental disorders (NDDs), including autism spectrum disorders (ASDs) and intellectual disabilities (IDs…
View article: Assigning Targetable Molecular Pathways to Transdiagnostic Subgroups Across Autism and Related Neurodevelopmental Disorders
Assigning Targetable Molecular Pathways to Transdiagnostic Subgroups Across Autism and Related Neurodevelopmental Disorders Open
Significant genetic, behavioural and neuroanatomic heterogeneity is common in autism spectrum- and related- neurodevelopmental disorders (NDDs). This heterogeneity constrains the development of effective therapies for diverse patients in p…
View article: Transduction of hematopoietic stem and progenitor cells by an MECP2 lentiviral vector improves Rett syndrome phenotypes
Transduction of hematopoietic stem and progenitor cells by an MECP2 lentiviral vector improves Rett syndrome phenotypes Open
Introduction Rett Syndrome is a genetic neurodevelopmental disorder caused by decreased levels of MeCP2. Due to mutations in the MECP2 gene, insufficient MeCP2 protein levels lead to clinical phenotypes including the loss of normal movemen…
View article: Hyperexcitability and translational phenotypes in a preclinical mouse model of SYNGAP1-related intellectual disability
Hyperexcitability and translational phenotypes in a preclinical mouse model of SYNGAP1-related intellectual disability Open
Disruption of SYNGAP1 directly causes a genetically identifiable neurodevelopmental disorder (NDD) called SYNGAP1-related intellectual disability (SRID). Without functional SynGAP1 protein, individuals are developmentally delayed and have …
View article: Peptidomimetic inhibitors targeting TrkB/PSD-95 signaling improves cognition and seizure outcomes in an Angelman Syndrome mouse model
Peptidomimetic inhibitors targeting TrkB/PSD-95 signaling improves cognition and seizure outcomes in an Angelman Syndrome mouse model Open
Angelman syndrome (AS) is a rare genetic neurodevelopmental disorder with profoundly debilitating symptoms with no FDA-approved cure or therapeutic. Brain-derived neurotrophic factor (BDNF), and its receptor TrkB, have a well-established r…
View article: Hyperexcitability and translational phenotypes in a preclinical mouse model of SYNGAP1-Related Intellectual Disability
Hyperexcitability and translational phenotypes in a preclinical mouse model of SYNGAP1-Related Intellectual Disability Open
Disruption of SYNGAP1 directly causes a genetically identifiable neurodevelopmental disorder (NDD) called SYNGAP1-related intellectual disability (SRID). Without functional SynGAP1 protein, individuals are developmentally delayed and have …
View article: Hyperexcitability and translational phenotypes in a preclinical model of SYNGAP1 mutations
Hyperexcitability and translational phenotypes in a preclinical model of SYNGAP1 mutations Open
View article: Hyperexcitability and translational phenotypes in a preclinical model of<i>SYNGAP1</i>mutations
Hyperexcitability and translational phenotypes in a preclinical model of<i>SYNGAP1</i>mutations Open
SYNGAP1 is a critical gene for neuronal development, synaptic structure, and function. Although rare, the disruption of SYNGAP1 directly causes a genetically identifiable neurodevelopmental disorder (NDD) called SYNGAP1-related intellectua…
View article: Table of Contents, Volume 191A, Number 7, July 2023
Table of Contents, Volume 191A, Number 7, July 2023 Open
View article: Quantitative measures of motor development in Angelman syndrome
Quantitative measures of motor development in Angelman syndrome Open
Angelman Syndrome is a rare neurodevelopmental disorder characterized by developmental delay, lack of speech, seizures, intellectual disability, characteristic behavior, and movement disorders. Clinical gait analysis provides the opportuni…
View article: Ictal vocalizations in the <i>Scn1a</i><sup>+/−</sup> mouse model of Dravet syndrome
Ictal vocalizations in the <i>Scn1a</i><sup>+/−</sup> mouse model of Dravet syndrome Open
Objective Ictal vocalizations have shown diagnostic utility in epilepsy patients. Audio recordings of seizures have also been used for seizure detection. The present study aimed to determine whether generalized tonic–clonic seizures in the…
View article: Transcriptional reprogramming restores UBE3A brain-wide and rescues behavioral phenotypes in an Angelman syndrome mouse model
Transcriptional reprogramming restores UBE3A brain-wide and rescues behavioral phenotypes in an Angelman syndrome mouse model Open
View article: Unique Features of the Gut Microbiome Characterized in Animal Models of Angelman Syndrome
Unique Features of the Gut Microbiome Characterized in Animal Models of Angelman Syndrome Open
Angelman syndrome (AS)-associated gastrointestinal (GI) symptoms significantly impact quality of life in patients. In AS models in mouse, rat, and pig, AS animals showed impaired colonization of the gut microbiota compared to wild-type (he…
View article: Unique features of the gut microbiome characterized in animal models of Angelman Syndrome
Unique features of the gut microbiome characterized in animal models of Angelman Syndrome Open
A large subset of patients with Angelman syndrome (AS) suffer from concurrent gastrointestinal (GI) issues, including constipation, poor feeding, and reflux. AS is caused by the loss of ubiquitin ligase E3A ( UBE3A ) gene expression in the…
View article: Touchscreen cognitive deficits, hyperexcitability and hyperactivity in males and females using two models of<i>Cdkl5</i>deficiency
Touchscreen cognitive deficits, hyperexcitability and hyperactivity in males and females using two models of<i>Cdkl5</i>deficiency Open
Many neurodevelopmental disorders (NDDs) are the result of mutations on the X chromosome. One severe NDD resulting from mutations on the X chromosome is CDKL5 deficiency disorder (CDD). CDD is an epigenetic, X-linked NDD characterized by i…
View article: Reconsidering animal models used to study autism spectrum disorder: Current state and optimizing future
Reconsidering animal models used to study autism spectrum disorder: Current state and optimizing future Open
Neurodevelopmental disorders (NDDs), including autism spectrum disorder (ASD) and intellectual disability (ID), are pervasive, often lifelong disorders, lacking evidence‐based interventions for core symptoms. With no established biological…
View article: Gait as a quantitative translational outcome measure in Angelman syndrome
Gait as a quantitative translational outcome measure in Angelman syndrome Open
Angelman syndrome (AS) is a genetic neurodevelopmental disorder characterized by developmental delay, lack of speech, seizures, intellectual disability, hypotonia, and motor coordination deficits. Motor abilities are an important outcome m…
View article: Emulating Near-Roadway Exposure to Traffic-Related Air Pollution via Real-Time Emissions from a Major Freeway Tunnel System
Emulating Near-Roadway Exposure to Traffic-Related Air Pollution via Real-Time Emissions from a Major Freeway Tunnel System Open
Epidemiological and toxicological studies continue to demonstrate correlative and causal relationships between exposure to traffic-related air pollution and various metrics of adverse pulmonary, cardiovascular, and neurological health effe…
View article: An in vivo Cell-Based Delivery Platform for Zinc Finger Artificial Transcription Factors in Pre-clinical Animal Models
An in vivo Cell-Based Delivery Platform for Zinc Finger Artificial Transcription Factors in Pre-clinical Animal Models Open
Zinc finger (ZF), transcription activator-like effectors (TALE), and CRISPR/Cas9 therapies to regulate gene expression are becoming viable strategies to treat genetic disorders, although effective in vivo delivery systems for these protein…
View article: Early lysosome defects precede neurodegeneration with amyloid-β and tau aggregation in NHE6-null rat brain
Early lysosome defects precede neurodegeneration with amyloid-β and tau aggregation in NHE6-null rat brain Open
Loss-of-function mutations in the X-linked endosomal Na+/H+ exchanger 6 (NHE6) cause Christianson syndrome in males. Christianson syndrome involves endosome dysfunction leading to early cerebellar degeneration, as well as later-onset corti…
View article: Developmental Exposure to a Human-Relevant Polychlorinated Biphenyl Mixture Causes Behavioral Phenotypes That Vary by Sex and Genotype in Juvenile Mice Expressing Human Mutations That Modulate Neuronal Calcium
Developmental Exposure to a Human-Relevant Polychlorinated Biphenyl Mixture Causes Behavioral Phenotypes That Vary by Sex and Genotype in Juvenile Mice Expressing Human Mutations That Modulate Neuronal Calcium Open
Polychlorinated biphenyls (PCBs) are putative environmental risks for neurodevelopmental disorders. Here, we tested two hypotheses: (1) developmental exposure to a human-relevant PCB mixture causes behavioral phenotypes relevant to neurode…
View article: Insulin-like growth factor-2 does not improve behavioral deficits in mouse and rat models of Angelman Syndrome
Insulin-like growth factor-2 does not improve behavioral deficits in mouse and rat models of Angelman Syndrome Open
View article: Persistent neuropathology and behavioral deficits in a mouse model of status epilepticus induced by acute intoxication with diisopropylfluorophosphate
Persistent neuropathology and behavioral deficits in a mouse model of status epilepticus induced by acute intoxication with diisopropylfluorophosphate Open
Organophosphate (OP) nerve agents and pesticides are a class of neurotoxic compounds that can cause status epilepticus (SE), and death following acute high-dose exposures. While the standard of care for acute OP intoxication (atropine, oxi…
View article: Excessive Laughter-like Vocalizations, Microcephaly, and Translational Outcomes in the<i>Ube3a</i>Deletion Rat Model of Angelman Syndrome
Excessive Laughter-like Vocalizations, Microcephaly, and Translational Outcomes in the<i>Ube3a</i>Deletion Rat Model of Angelman Syndrome Open
Angelman syndrome (AS) is a rare genetic neurodevelopmental disorder characterized by intellectual disabilities, motor and balance deficits, impaired communication, and a happy, excitable demeanor with frequent laughter. We sought to eluci…
View article: Insulin-like growth factor-2 does not improve behavioral deficits in mouse and rat models of Angelman Syndrome
Insulin-like growth factor-2 does not improve behavioral deficits in mouse and rat models of Angelman Syndrome Open
Background Angelman Syndrome (AS) is a rare neurodevelopmental disorder for which there is currently no cure or effective therapeutic. Since the genetic cause of AS is known to be dysfunctional expression of the maternal allele of ubiquiti…
View article: Gait as a Quantitative Translational Outcome Measure in Angelman Syndrome
Gait as a Quantitative Translational Outcome Measure in Angelman Syndrome Open
Angelman Syndrome (AS) is a genetic neurodevelopmental disorder characterized by developmental delay, lack of speech, seizures, intellectual disability, and walking and balance disorders. Recently, motor ability became an interesting outco…