Single cell resolution regulatory landscape of the mouse kidney highlights cellular differentiation programs and renal disease targets

Z Miao, MS Balzer, Z Ma, H Liu, J Wu, R Shrestha… - bioRxiv, 2020 - biorxiv.org
The kidney has a very limited capacity to repair. Defining cellular differentiation during
development therefore could aid the understanding of homeostatic and maladaptive …

Disruption of transient SERT expression in thalamic glutamatergic neurons alters trajectory of postnatal interneuron development in the mouse cortex

R De Gregorio, X Chen, EI Petit, K Dobrenis… - Cerebral …, 2020 - academic.oup.com
In mice, terminal differentiation of subpopulations of interneurons occurs in late postnatal
stages, paralleling the emergence of the adult cortical architecture. Here, we investigated …

[PDF][PDF] USA

CA Jolla - Differences were considered as significant at - scholar.archive.org
Autism-linked Cullin3 germline haploinsufficiency impacts cytoskeletal dynamics and cortical
neurogenesis through RhoA signaling Page 1 1 Autism-linked Cullin3 germline …

Neuronal and glial 3D chromatin architecture illustrates cellular etiology of brain disorders

B Hu, H Won, W Mah, R Park, B Kassim, K Spiess… - bioRxiv, 2020 - biorxiv.org
Cellular heterogeneity in the human brain obscures the identification of robust cellular
regulatory networks. We integrated genome-wide chromosome conformation in purified …

[PDF][PDF] Modeling neurodevelopmental disorders using human pluripotent stem cells: from epigenetics towards new cellular mechanisms

K Linda - 2020 - repository.ubn.ru.nl
Neurodevelopmental disorders (NDDs), including intellectual disability (ID) and autism
spectrum disorders (ASD) are genetically and phenotypically highly heterogeneous and …

Aberrant gliogenesis and excitation in MEF2C autism patient hiPSC-neurons and cerebral organoids

D Trudler, S Ghatak, J Parker, M Talantova… - BioRxiv, 2020 - biorxiv.org
MEF2C has been shown to be a critical transcription factor for neurodevelopment, whose
loss-of-function mutation in humans results in MEF2C haploinsufficiency syndrome (MHS), a …

[PDF][PDF] Identification of CDH11 as an ASD risk gene by matched-gene co-expression analysis and mouse behavioral studies

N Wu, Y Wang, YH Pan, X Yuan - bioRxiv, 2020 - researchgate.net
Genetic variants of a large group of susceptibility genes have been associated with similar
clinical manifestations of autism spectrum disorders (ASD), suggesting convergent function …

Genomics of autism spectrum disorders

M Raygada, P Grant, OM Rennert - Personalized Psychiatry, 2020 - Elsevier
Autism spectrum disorder (ASD) is a panoply of different diseases that share a set of
common behavioral traits, specifically social communication deficits, and repetitive and …

[PDF][PDF] Establishing CRISPR Models of Rare Hereditary Neurodegenerative Diseases

E Buglo - University of Miami, 2020 - scholarship.miami.edu
Rare hereditary neurodegenerative diseases are a group of genetic Mendelian disorders
afflicting the central and/or peripheral nervous system. On one hand, these diseases are …

The role of chromatin modifiers in common neurodevelopmental disorders

RA Poot - Stem Cell Epigenetics, 2020 - Elsevier
Recent exome-sequencing studies on patients with (nonsyndromic) autism and their parents
have identified the first tens of genes that, if mutated, likely contribute to the autism …