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 …

Human-specific genes, cortical progenitor cells, and microcephaly

M Heide, WB Huttner - Cells, 2021 - mdpi.com
Over the past few years, human-specific genes have received increasing attention as
potential major contributors responsible for the 3-fold difference in brain size between …

[HTML][HTML] Neuronal fate acquisition and specification: time for a change

J Bonnefont, P Vanderhaeghen - Current opinion in neurobiology, 2021 - Elsevier
During embryonic development, neural stem/progenitor cells generate hundreds of different
cell types through the combination of intrinsic and extrinsic cues. Recent data obtained in …

Neurodegenerative VPS41 variants inhibit HOPS function and mTORC1‐dependent TFEB/TFE3 regulation

REN van der Welle, R Jobling, C Burns… - EMBO molecular …, 2021 - embopress.org
Abstract Vacuolar protein sorting 41 (VPS41) is as part of the Homotypic fusion and Protein
Sorting (HOPS) complex required for lysosomal fusion events and, independent of HOPS …

1q21. 1 distal copy number variants are associated with cerebral and cognitive alterations in humans

IE Sønderby, D Van der Meer, C Moreau… - Translational …, 2021 - nature.com
Abstract Low-frequency 1q21. 1 distal deletion and duplication copy number variant (CNV)
carriers are predisposed to multiple neurodevelopmental disorders, including …

Regulation of nonsense-mediated mRNA decay in neural development and disease

PJ Lee, S Yang, Y Sun, JU Guo - Journal of molecular cell …, 2021 - academic.oup.com
Eukaryotes have evolved a variety of mRNA surveillance mechanisms to detect and
degrade aberrant mRNAs with potential deleterious outcomes. Among them, nonsense …

[HTML][HTML] Clinical evaluation of patients with a neuropsychiatric risk copy number variant

SJRA Chawner, CJ Watson, MJ Owen - Current opinion in genetics & …, 2021 - Elsevier
Several copy number variants (CNVs) have been identified to confer high risk for a range of
neuropsychiatric conditions. Because of advances in genetic testing within clinical settings …

Social boldness correlates with brain gene expression in male green anoles

D Kabelik, AR Julien, D Ramirez, LA O'Connell - Hormones and behavior, 2021 - Elsevier
Within populations, some individuals tend to exhibit a bold or shy social behavior phenotype
relative to the mean. The neural underpinnings of these differing phenotypes–also …

Neocortex expansion in development and evolution—from genes to progenitor cell biology

A Pinson, WB Huttner - Current opinion in cell biology, 2021 - Elsevier
The evolutionary expansion of the neocortex, the seat of higher cognitive functions in
humans, is primarily due to an increased and prolonged proliferation of neural progenitor …

Is prenatal diagnosis necessary for fetal isolated nasal bone absence or hypoplasia?

F Zhang, W Long, Q Zhou, J Wang, Y Shi… - … Journal of General …, 2021 - Taylor & Francis
Purpose This study aimed to explore the value of chromosomal microarray analysis (CMA)
and whole exome sequencing (WES) in the prenatal diagnosis of fetal isolated nasal bone …