Developmental disorders caused by haploinsufficiency of transcriptional regulators: a perspective based on cell fate determination
R Zug - Biology Open, 2022 - journals.biologists.com
Many human birth defects and neurodevelopmental disorders are caused by loss-of-function
mutations in a single copy of transcription factor (TF) and chromatin regulator genes …
mutations in a single copy of transcription factor (TF) and chromatin regulator genes …
[HTML][HTML] High-quality models for assessing the effects of environmental pollutants on the nervous system: 3D brain organoids
Y Yan, Z Yang, L Chen - Ecotoxicology and Environmental Safety, 2024 - Elsevier
The prevalence of environmental problems and the increasing risk of human exposure to
environmental pollutants have become a global concern. The increasing environmental …
environmental pollutants have become a global concern. The increasing environmental …
Lethal phenotypes in Mendelian disorders
P Cacheiro, S Lawson, IB Van den Veyver… - Genetics in …, 2024 - Elsevier
Purpose Existing resources that characterize the essentiality status of genes are based on
either proliferation assessment in human cell lines, viability evaluation in mouse knockouts …
either proliferation assessment in human cell lines, viability evaluation in mouse knockouts …
Drug approval prediction based on the discrepancy in gene perturbation effects between cells and humans
Background Poor translation between in vitro and clinical studies due to the cells/humans
discrepancy in drug target perturbation effects leads to safety failures in clinical trials, thus …
discrepancy in drug target perturbation effects leads to safety failures in clinical trials, thus …
Evolutionary rewiring of regulatory networks contributes to phenotypic differences between human and mouse orthologous genes
Mouse models have been engineered to reveal the biological mechanisms of human
diseases based on an assumption. The assumption is that orthologous genes underlie …
diseases based on an assumption. The assumption is that orthologous genes underlie …
ARID1B controls transcriptional programs of axon projection in an organoid model of the human corpus callosum
C Martins-Costa, A Wiegers, VA Pham, J Sidhaye… - Cell Stem Cell, 2024 - cell.com
Mutations in ARID1B, a member of the mSWI/SNF complex, cause severe
neurodevelopmental phenotypes with elusive mechanisms in humans. The most common …
neurodevelopmental phenotypes with elusive mechanisms in humans. The most common …
Development of bioinformatics and multi-omics analyses in organoids
Pre-clinical models are critical in gaining mechanistic and biological insights into disease
progression. Recently, patient-derived organoid models have been developed to facilitate …
progression. Recently, patient-derived organoid models have been developed to facilitate …
A missing paradigm: deciphering endocrine innovations among diverging regulations of alleles, paralogous and orthologous genes
JJ Lareyre, P Monget - Journal of Molecular Endocrinology, 2024 - jme.bioscientifica.com
In endocrinology, there are many similarities in the regulation of gene expression between
alleles, paralogous or orthologous genes, at the genetic or epigenetic level. However, there …
alleles, paralogous or orthologous genes, at the genetic or epigenetic level. However, there …
Quality assessment and refinement of chromatin accessibility data using a sequence-based predictive model
Chromatin accessibility assays are central to the genome-wide identification of gene
regulatory elements associated with transcriptional regulation. However, the data have …
regulatory elements associated with transcriptional regulation. However, the data have …
[HTML][HTML] Computational strategies for cross-species knowledge transfer and translational biomedicine
Research organisms provide invaluable insights into human biology and diseases, serving
as essential tools for functional experiments, disease modeling, and drug testing. However …
as essential tools for functional experiments, disease modeling, and drug testing. However …