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 …

[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 …

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 …

Drug approval prediction based on the discrepancy in gene perturbation effects between cells and humans

M Park, D Kim, I Kim, SH Im, S Kim - EBioMedicine, 2023 - thelancet.com
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 …

Evolutionary rewiring of regulatory networks contributes to phenotypic differences between human and mouse orthologous genes

D Ha, D Kim, I Kim, Y Oh, JH Kong… - Nucleic Acids …, 2022 - academic.oup.com
Mouse models have been engineered to reveal the biological mechanisms of human
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 …

Development of bioinformatics and multi-omics analyses in organoids

D Ha, JH Kong, D Kim, K Lee, J Lee, M Park… - BMB …, 2022 - pmc.ncbi.nlm.nih.gov
Pre-clinical models are critical in gaining mechanistic and biological insights into disease
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 …

Quality assessment and refinement of chromatin accessibility data using a sequence-based predictive model

SK Han, Y Muto, PC Wilson… - Proceedings of the …, 2022 - National Acad Sciences
Chromatin accessibility assays are central to the genome-wide identification of gene
regulatory elements associated with transcriptional regulation. However, the data have …

[HTML][HTML] Computational strategies for cross-species knowledge transfer and translational biomedicine

H Yuan, CA Mancuso, K Johnson, I Braasch… - ArXiv, 2024 - pmc.ncbi.nlm.nih.gov
Research organisms provide invaluable insights into human biology and diseases, serving
as essential tools for functional experiments, disease modeling, and drug testing. However …