Induced Pluripotent Stem Cells in Disease Biology and the Evidence for Their In Vitro Utility

A Adegunsoye, NM Gonzales… - Annual Review of …, 2023 - annualreviews.org
Many human phenotypes are impossible to recapitulate in model organisms or immortalized
human cell lines. Induced pluripotent stem cells (iPSCs) offer a way to study disease …

Massively parallel techniques for cataloguing the regulome of the human brain

KG Townsley, KJ Brennand, LM Huckins - Nature neuroscience, 2020 - nature.com
Complex brain disorders are highly heritable and arise from a complex polygenic risk
architecture. Many disease-associated loci are found in non-coding regions that house …

Impaired neurogenesis alters brain biomechanics in a neuroprogenitor-based genetic subtype of congenital hydrocephalus

PQ Duy, SC Weise, C Marini, XJ Li, D Liang… - Nature …, 2022 - nature.com
Hydrocephalus, characterized by cerebral ventricular dilatation, is routinely attributed to
primary defects in cerebrospinal fluid (CSF) homeostasis. This fosters CSF shunting as the …

[PDF][PDF] Regional heterogeneity in gene expression, regulation, and coherence in the frontal cortex and hippocampus across development and schizophrenia

L Collado-Torres, EE Burke, A Peterson, JH Shin… - Neuron, 2019 - cell.com
The hippocampus formation, although prominently implicated in schizophrenia
pathogenesis, has been overlooked in large-scale genomics efforts in the schizophrenic …

Profiling gene expression in the human dentate gyrus granule cell layer reveals insights into schizophrenia and its genetic risk

AE Jaffe, DJ Hoeppner, T Saito, L Blanpain… - Nature …, 2020 - nature.com
Specific cell populations may have unique contributions to schizophrenia but may be missed
in studies of homogenate tissue. Here laser capture microdissection followed by RNA …

[PDF][PDF] Mutations in the transcriptional regulator MeCP2 severely impact key cellular and molecular signatures of human astrocytes during maturation

J Sun, S Osenberg, A Irwin, LH Ma, N Lee, Y Xiang… - Cell reports, 2023 - cell.com
Mutations in the MECP2 gene underlie a spectrum of neurodevelopmental disorders, most
commonly Rett syndrome (RTT). We ask whether MECP2 mutations interfere with human …

Electrophysiological measures from human iPSC-derived neurons are associated with schizophrenia clinical status and predict individual cognitive performance

SC Page, SR Sripathy, F Farinelli… - Proceedings of the …, 2022 - National Acad Sciences
Neurons derived from human induced pluripotent stem cells (hiPSCs) have been used to
model basic cellular aspects of neuropsychiatric disorders, but the relationship between the …

Insplico: effective computational tool for studying splicing order of adjacent introns genome-wide with short and long RNA-seq reads

A Gohr, LP Iñiguez, A Torres-Méndez… - Nucleic Acids …, 2023 - academic.oup.com
Although splicing occurs largely co-transcriptionally, the order by which introns are removed
does not necessarily follow the order in which they are transcribed. Whereas several …

[HTML][HTML] ELAV/Hu RNA binding proteins determine multiple programs of neural alternative splicing

S Lee, L Wei, B Zhang, R Goering, S Majumdar… - PLoS …, 2021 - journals.plos.org
ELAV/Hu factors are conserved RNA binding proteins (RBPs) that play diverse roles in
mRNA processing and regulation. The founding member, Drosophila Elav, was recognized …

Multi-omic profiling of the developing human cerebral cortex at the single-cell level

K Zhu, J Bendl, S Rahman, JM Vicari, C Coleman… - Science …, 2023 - science.org
The cellular complexity of the human brain is established via dynamic changes in gene
expression throughout development that is mediated, in part, by the spatiotemporal activity …