16p11. 2 copy number variations and neurodevelopmental disorders
Copy number variations (CNVs) of the human 16p11. 2 genetic locus are associated with a
range of neurodevelopmental disorders, including autism spectrum disorder, intellectual …
range of neurodevelopmental disorders, including autism spectrum disorder, intellectual …
Modeling neuropsychiatric disorders using human induced pluripotent stem cells
Neuropsychiatric disorders are complex disorders characterized by heterogeneous genetic
variations, variable symptoms, and widespread changes in anatomical pathology. In the …
variations, variable symptoms, and widespread changes in anatomical pathology. In the …
[HTML][HTML] Human iPSC-derived hippocampal spheroids: an innovative tool for stratifying Alzheimer disease patient-specific cellular phenotypes and developing …
Y Pomeshchik, O Klementieva, J Gil, I Martinsson… - Stem Cell Reports, 2020 - cell.com
The hippocampus is important for memory formation and is severely affected in the brain
with Alzheimer disease (AD). Our understanding of early pathogenic processes occurring in …
with Alzheimer disease (AD). Our understanding of early pathogenic processes occurring in …
Interferon-γ signaling in human iPSC–derived neurons recapitulates neurodevelopmental disorder phenotypes
K Warre-Cornish, L Perfect, R Nagy, RRR Duarte… - Science …, 2020 - science.org
Maternal immune activation increases the risk of neurodevelopmental disorders. Elevated
cytokines, such as interferon-γ (IFN-γ), in offspring's brains play a central role. IFN-γ …
cytokines, such as interferon-γ (IFN-γ), in offspring's brains play a central role. IFN-γ …
[HTML][HTML] Synaptic dysfunction in human neurons with autism-associated deletions in PTCHD1-AS
Abstract Background The Xp22. 11 locus that encompasses PTCHD1, DDX53, and the long
noncoding RNA PTCHD1-AS is frequently disrupted in male subjects with autism spectrum …
noncoding RNA PTCHD1-AS is frequently disrupted in male subjects with autism spectrum …
The neurodevelopment of autism from infancy through toddlerhood
JB Girault, J Piven - Neuroimaging Clinics, 2020 - neuroimaging.theclinics.com
Autism spectrum disorder (ASD) is a neurodevelopmental disorder diagnosed in 1 in 59
children in the United States. 1 ASD is characterized by heterogeneous symptom profiles …
children in the United States. 1 ASD is characterized by heterogeneous symptom profiles …
[HTML][HTML] 16p11. 2 microdeletion imparts transcriptional alterations in human iPSC-derived models of early neural development
JG Roth, KL Muench, A Asokan, VM Mallett, H Gai… - Elife, 2020 - elifesciences.org
Microdeletions and microduplications of the 16p11. 2 chromosomal locus are associated
with syndromic neurodevelopmental disorders and reciprocal physiological conditions such …
with syndromic neurodevelopmental disorders and reciprocal physiological conditions such …
Dysregulation of neurite outgrowth and cell migration in autism and other neurodevelopmental disorders
S Prem, JH Millonig, E DiCicco-Bloom - … Disorders: Employing iPSC …, 2020 - Springer
Despite decades of study, elucidation of the underlying etiology of complex developmental
disorders such as autism spectrum disorder (ASD), schizophrenia (SCZ), intellectual …
disorders such as autism spectrum disorder (ASD), schizophrenia (SCZ), intellectual …
ToolBox: Live Imaging of intracellular organelle transport in induced pluripotent stem cell‐derived neurons
CA Boecker, MA Olenick, ER Gallagher, ME Ward… - Traffic, 2020 - Wiley Online Library
Induced pluripotent stem cells (iPSCs) hold promise to revolutionize studies of intracellular
transport in live human neurons and to shed new light on the role of dysfunctional transport …
transport in live human neurons and to shed new light on the role of dysfunctional transport …
Modeling brain disorders using induced pluripotent stem cells
KC Vadodaria, JR Jones… - Cold Spring Harbor …, 2020 - cshperspectives.cshlp.org
Brain disorders, from neurodegenerative to psychiatric disorders, are among the most
challenging conditions to study because of the intricate nature of the human brain and the …
challenging conditions to study because of the intricate nature of the human brain and the …