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A microanatomical study of the precentral cerebral wall in human fetuses of the second trimester with ventriculomegaly and corpus callosal dysgenesis.
Clin Neurol Neurosurg
December 2024
Department of Anatomy, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, Karnataka, India. Electronic address:
Background: The complex structure and function of the cerebrum make it a key focus in neuroscience research. It develops from telencephalic vesicles through processes such as cell growth, division, and migration from the neuroepithelium's ventricular matrix, forming the six-layered isocortex or neocortex. Multipotent neuroepithelial cells give rise to both neuronal and glial precursors, which populate the cerebral cortex.
View Article and Find Full Text PDFUTF1 Expression is Important for the Generation and Maintenance of Human iPSCs.
Stem Cell Rev Rep
January 2025
Department of Biosciences and Bioengineering, Indian Institute of Technology Guwahati, Guwahati, Assam, India.
Background: Undifferentiated embryonic cell transcription factor 1 (UTF1) is predominantly expressed in pluripotent stem cells and plays a vital role in embryonic development and pluripotency maintenance. Despite its established importance in murine models, the role of UTF1 on human induced pluripotent stem cells (iPSCs) has not been comprehensively studied.
Methods: This study utilized CRISPR/Cas9 gene editing to create UTF1 knockout in human fibroblasts and iPSCs.
CIROZ is dispensable in ancestral vertebrates but essential for left-right patterning in humans.
Am J Hum Genet
December 2024
Laboratory of Human Genetics & Therapeutics, Genome Institute of Singapore (GIS), A(∗)STAR, Singapore, Singapore; Laboratory of Human Genetics & Therapeutics, BESE, KAUST, Thuwal, Saudi Arabia; Department of Physiology, Cardiovascular Disease Translational Research Programme, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore. Electronic address:
Four genes-DAND5, PKD1L1, MMP21, and CIROP-form a genetic module that has specifically evolved in vertebrate species that harbor motile cilia in their left-right organizer (LRO). We find here that CIROZ (previously known as C1orf127) is also specifically expressed in the LRO of mice, frogs, and fish, where it encodes a protein with a signal peptide followed by 3 zona pellucida N domains, consistent with extracellular localization. We report 16 individuals from 10 families with bi-allelic CIROZ inactivation variants, which cause heterotaxy with congenital heart defects.
View Article and Find Full Text PDFDeriving a genetic regulatory network from an optimization principle.
Proc Natl Acad Sci U S A
January 2025
Institute of Science and Technology Austria, Klosterneuburg AT-3400, Austria.
Many biological systems operate near the physical limits to their performance, suggesting that aspects of their behavior and underlying mechanisms could be derived from optimization principles. However, such principles have often been applied only in simplified models. Here, we explore a detailed mechanistic model of the gap gene network in the embryo, optimizing its 50+ parameters to maximize the information that gene expression levels provide about nuclear positions.
View Article and Find Full Text PDFBasic Science and Pathogenesis.
Alzheimers Dement
December 2024
UK Dementia Research Institute, University of Edinburgh, Edinburgh, United Kingdom.
Background: Small vessel disease (SVD) is a disorder of the brain's microvessels and a common cause of dementia and stroke. Evidence links normal ageing features to SVD progression, involving endothelial activation, pericyte dysfunction, BBB failure, and microglia response. Here, we aim to examine this relationship through a series of translational investigations.
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