Genetics of human brain development

Y Zhou, H Song, G Ming - Nature Reviews Genetics, 2024 - nature.com
Brain development in humans is achieved through precise spatiotemporal genetic control,
the mechanisms of which remain largely elusive. Recently, integration of technological …

Cellular and molecular mechanisms linking human cortical development and evolution

B Libé-Philippot, P Vanderhaeghen - Annual review of genetics, 2021 - annualreviews.org
The cerebral cortex is at the core of brain functions that are thought to be particularly
developed in the human species. Human cortex specificities stem from divergent features of …

Inferring and perturbing cell fate regulomes in human brain organoids

JS Fleck, SMJ Jansen, D Wollny, F Zenk, M Seimiya… - Nature, 2023 - nature.com
Self-organizing neural organoids grown from pluripotent stem cells,–combined with single-
cell genomic technologies provide opportunities to examine gene regulatory networks …

[HTML][HTML] Single-cell brain organoid screening identifies developmental defects in autism

C Li, JS Fleck, C Martins-Costa, TR Burkard… - Nature, 2023 - nature.com
The development of the human brain involves unique processes (not observed in many
other species) that can contribute to neurodevelopmental disorders,,–. Cerebral organoids …

Neural stem cell metabolism revisited: a critical role for mitochondria

V Scandella, F Petrelli, DL Moore, SMG Braun… - Trends in Endocrinology …, 2023 - cell.com
Metabolism has emerged as a key regulator of stem cell behavior. Mitochondria are crucial
metabolic organelles that are important for differentiated cells, yet considered less so for …

Web-accessible application for identifying pathogenic transcripts with RNA-seq: Increased sensitivity in diagnosis of neurodevelopmental disorders

J Dekker, R Schot, M Bongaerts, WG de Valk… - The American Journal of …, 2023 - cell.com
For neurodevelopmental disorders (NDDs), a molecular diagnosis is key for management,
predicting outcome, and counseling. Often, routine DNA-based tests fail to establish a …

Folding brains: from development to disease modeling

L Del-Valle-Anton, V Borrell - Physiological Reviews, 2022 - journals.physiology.org
The human brain is characterized by the large size and intricate folding of its cerebral cortex,
which are fundamental for our higher cognitive function and frequently altered in …

[HTML][HTML] SYNGAP1 deficiency disrupts synaptic neoteny in xenotransplanted human cortical neurons in vivo

B Vermaercke, R Iwata, K Wierda, L Boubakar… - Neuron, 2024 - cell.com
Human brain ontogeny is characterized by a considerably prolonged neotenic development
of cortical neurons and circuits. Neoteny is thought to be essential for the acquisition of …

Conserved transcriptional regulation by BRN1 and BRN2 in neocortical progenitors drives mammalian neural specification and neocortical expansion

S Barão, Y Xu, JP Llongueras, R Vistein, L Goff… - Nature …, 2024 - nature.com
The neocortex varies in size and complexity among mammals due to the tremendous
variability in the number and diversity of neuronal subtypes across species. The increased …

The ferret as a model system for neocortex development and evolution

C Gilardi, N Kalebic - Frontiers in Cell and Developmental Biology, 2021 - frontiersin.org
The neocortex is the largest part of the cerebral cortex and a key structure involved in human
behavior and cognition. Comparison of neocortex development across mammals reveals …