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 …
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
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 …
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
Hydrocephalus, characterized by cerebral ventricular dilatation, is routinely attributed to
primary defects in cerebrospinal fluid (CSF) homeostasis. This fosters CSF shunting as the …
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 …
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
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 …
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 …
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 …
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 …
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
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 …
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
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 …
expression throughout development that is mediated, in part, by the spatiotemporal activity …