Dysfunction of the corticostriatal pathway in autism spectrum disorders

W Li, L Pozzo‐Miller - Journal of neuroscience research, 2020 - Wiley Online Library
The corticostriatal pathway that carries sensory, motor, and limbic information to the striatum
plays a critical role in motor control, action selection, and reward. Dysfunction of this …

Evolutionary constraint and innovation across hundreds of placental mammals

MJ Christmas, IM Kaplow, DP Genereux, MX Dong… - Science, 2023 - science.org
Zoonomia is the largest comparative genomics resource for mammals produced to date. By
aligning genomes for 240 species, we identify bases that, when mutated, are likely to affect …

Integrative functional genomic analysis of human brain development and neuropsychiatric risks

M Li, G Santpere, Y Imamura Kawasawa, OV Evgrafov… - Science, 2018 - science.org
INTRODUCTION The brain is responsible for cognition, behavior, and much of what makes
us uniquely human. The development of the brain is a highly complex process, and this …

[HTML][HTML] C2H2-type zinc finger proteins in brain development, neurodevelopmental, and other neuropsychiatric disorders: systematic literature-based analysis

N Al-Naama, R Mackeh, T Kino - Frontiers in Neurology, 2020 - frontiersin.org
Neurodevelopmental disorders (NDDs) are multifaceted pathologic conditions manifested
with intellectual disability, autistic features, psychiatric problems, motor dysfunction, and/or …

MsDBP: exploring DNA-binding proteins by integrating multiscale sequence information via Chou's five-step rule

X Du, Y Diao, H Liu, S Li - Journal of Proteome Research, 2019 - ACS Publications
DNA-binding proteins are crucial to alternative splicing, methylation, and the structural
composition of the DNA. The existing experimental methods for identifying DNA-binding …

[PDF][PDF] hPSC modeling reveals that fate selection of cortical deep projection neurons occurs in the subplate

MZ Ozair, C Kirst, BL van den Berg, A Ruzo, T Rito… - Cell stem cell, 2018 - cell.com
Cortical deep projection neurons (DPNs) are implicated in neurodevelopmental disorders.
Although recent findings emphasize post-mitotic programs in projection neuron fate …

[HTML][HTML] Disruption of NEUROD2 causes a neurodevelopmental syndrome with autistic features via cell-autonomous defects in forebrain glutamatergic neurons

K Runge, R Mathieu, S Bugeon, S Lafi, C Beurrier… - Molecular …, 2021 - nature.com
While the transcription factor NEUROD2 has recently been associated with epilepsy, its
precise role during nervous system development remains unclear. Using a multi-scale …

[HTML][HTML] Symptomatic, genetic, and mechanistic overlaps between autism and Alzheimer's disease

MS Nadeem, S Hosawi, S Alshehri, MM Ghoneim… - Biomolecules, 2021 - mdpi.com
Autism spectrum disorder (ASD) and Alzheimer's disease (AD) are neurodevelopmental and
neurodegenerative disorders affecting two opposite ends of life span, ie, childhood and old …

[HTML][HTML] Postsynaptic autism spectrum disorder genes and synaptic dysfunction

P Bonsi, A De Jaco, L Fasano, P Gubellini - Neurobiology of disease, 2022 - Elsevier
This review provides an overview of the synaptic dysfunction of neuronal circuits and the
ensuing behavioral alterations caused by mutations in autism spectrum disorder (ASD) …

[HTML][HTML] Congenital disorders of the human urinary tract: recent insights from genetic and molecular studies

AS Woolf, FM Lopes, P Ranjzad, NA Roberts - Frontiers in pediatrics, 2019 - frontiersin.org
The urinary tract comprises the renal pelvis, the ureter, the urinary bladder, and the urethra.
The tract acts as a functional unit, first propelling urine from the kidney to the bladder, then …