A5048490555- Pluripotent Stem Cells Research
- Neurogenesis and neuroplasticity mechanisms
- Genomic variations and chromosomal abnormalities
- Neuroscience and Neuropharmacology Research
- Congenital heart defects research
- Genetics and Neurodevelopmental Disorders
- Immunodeficiency and Autoimmune Disorders
- Neonatal Respiratory Health Research
- Chronic Lymphocytic Leukemia Research
- Neuroscience and Neural Engineering
- Epigenetics and DNA Methylation
- Hedgehog Signaling Pathway Studies
- Neuroethics, Human Enhancement, Biomedical Innovations
- RNA modifications and cancer
- Neuroinflammation and Neurodegeneration Mechanisms
- Developmental Biology and Gene Regulation
- Ion Transport and Channel Regulation
- RNA Research and Splicing
- Neural dynamics and brain function
- Biomedical Ethics and Regulation
- Anatomy and Medical Technology
Boston Children's Hospital
2020-2024
Harvard University
2021-2024
Wesleyan University
2014-2020
Iowa Academy of Science
2015
Embryonic stem cells (ESCs) undergoing neural differentiation form radial arrays of cells, termed rosettes. These structures manifest many the properties associated with embryonic and adult neurogenesis, including cell polarization, interkinetic nuclear migration (INM), a gradient neuronal differentiation. We now identify novel rosette structural features that serve to localize key regulators neurogenesis. Cells within rosettes have specialized basal as well apical surfaces, based on...
GABAergic interneuron dysfunction has been implicated in temporal lobe epilepsy (TLE), autism, and schizophrenia. Inhibitory progenitors transplanted into the hippocampus of rodents with TLE provide varying degrees seizure suppression. We investigated whether human embryonic stem cell (hESC)-derived (hESNPs) could differentiate, correct hippocampal-dependent spatial memory deficits, suppress seizures a pilocarpine-induced mouse model. found that ventralized hESNPs differentiated mature...
CDKL5 deficiency disorder (CDD) is a rare developmental and epileptic encephalopathy resulting from variants in cyclin-dependent kinase-like 5 (CDKL5) that lead to impaired kinase activity or loss of function. CDD one the most common genetic etiologies identified epilepsy cohorts. To study how impact human neuronal activity, gene expression morphology, patient-derived induced pluripotent stem cells their isogenic controls were differentiated into excitatory neurons using either an NGN2...
Transplantation of human embryonic stem cell (hESC)-derived neural progenitors is a potential treatment for neurological disorders, but relatively little known about the time course neuron maturation after transplantation and emergence morphological electrophysiological properties. To address this gap, we transplanted hESC-derived GABAergic interneuron into mouse hippocampus, then characterized their properties dendritic arborizations by means ex vivo whole-cell patch clamp recording,...
Background 16p13.11 microduplication syndrome has a variable presentation and is characterized primarily by neurodevelopmental physical phenotypes resulting from copy number variation at chromosome 16p13.11. Given its variability, there may be features that have not yet been reported. The goal of this study was to use patient “self-phenotyping” survey collect data directly patients further characterize the syndrome. Objective This aimed (1) discover self-identified in underrepresented...
The transcription factor NKX2.1, expressed at high levels in the medial ganglionic eminence (MGE), is a master regulator of cortical interneuron progenitor development. To identify gene candidates with expression profiles similar to previous transcriptome analysis human embryonic stem cell (hESC)-derived MGE-like progenitors revealed SFTA3 as strongest candidate. Quantitative real-time PCR hESC-derived NKX2.1-positive and data available from Allen Institute for Brain Science comparable...
Congenital vertebral malformations (CVMs) comprise a group of spinal abnormalities that include alterations in shape or number. Evidence suggests CVMs have genetic link, possibly resulting from mutations multiple genes. One candidate gene is T. T protein, transcription factor found variety animals including humans, essential for correct embryonic development and guides the bone cartilage mesodermal tissue. protein accumulates nuclei notochord cells, interacts with DNA at specific genes, acts...
Abstract The transcription factor NKX2.1 , expressed at high levels in the medial ganglionic eminence (MGE), is a master regulator of cortical interneuron progenitor development. To identify gene candidates with expression profiles similar to previous transcriptome analysis human embryonic stem cell (hESC)-derived MGE-like progenitors revealed SFTA3 as strongest candidate. Quantitative real-time PCR hESC-derived NKX2.1-positive and data available from Allen Institute for Brain Science...
<sec> <title>BACKGROUND</title> 16p13.11 microduplication syndrome has a variable presentation and is characterized primarily by neurodevelopmental physical phenotypes resulting from copy number variation at chromosome 16p13.11. Given its variability, there may be features that have not yet been reported. The goal of this study was to use patient “self-phenotyping” survey collect data directly patients further characterize the syndrome. </sec> <title>OBJECTIVE</title> This aimed (1) discover...
16p13.11 copy number variants (CNVs) have been associated with autism, schizophrenia, psychosis, intellectual disability, and epilepsy. The majority of deletions or duplications occur within three well-defined intervals, despite growing knowledge the functions individual genes these molecular mechanisms that underlie commonly observed clinical phenotypes remain largely unknown. Patient-derived, induced pluripotent stem cells (iPSCs) provide a platform for investigating morphological,...