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In this issue of Cell Stem Cell, Laugsch et al. (2019) use direct reprogramming, epigenetics, and chromatin architecture studies to demonstrate that developmental defects observed in a BOFS patient are caused by reduced expression of TFAP2A in neural crest cells due to the spatial separation of the promoter from its neural crest enhancers.
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http://dx.doi.org/10.1016/j.stem.2019.04.007 | DOI Listing |
PLoS One
September 2025
Children's Health Research Institute, Victoria Research Labs, London, Ontario, Canada.
Loss of actin cytoskeleton control can hinder integral developmental and physiological processes and can be the basis for a subset of developmental defects. SHROOM3 is an actin binding protein, best characterized as being essential for neural tube closure in vertebrates. Shroom3 expression has also been identified in the developing heart, with some associated congenital heart defects.
View Article and Find Full Text PDFDev Dyn
September 2025
Department of Internal Medicine, Division of Cardiovascular Medicine, Francois M. Abboud Cardiovascular Research Center, Fraternal Order of Eagles Diabetes Research Center, University of Iowa, Iowa City, Iowa, USA.
Background: Gene transcription is crucial for embryo and postnatal development and is regulated by the Mediator complex. Mediator is comprised of four submodules, including the kinase submodule (CKM). The CKM consists of MED13, MED12, CDK8, and CCNC.
View Article and Find Full Text PDFReprod Toxicol
September 2025
Department of Biochemistry and Molecular Biology, Brain Korea 21 Project, University of Ulsan College of Medicine, Asan Medical Center, Seoul 05505, Korea. Electronic address:
Xenopus embryo serves as an ideal model for teratogenesis assays to observe the effects of any compounds on the cellular processes crucial for early development and adult tissue homeostasis. In our screening of a chemical library with frog embryo, caffeic acid phenethyl ester (CAPE) was found to upregulate the FGF/MAPK pathway, disrupting germ layer formation in early development. Exposure to CAPE interfered with the formation of anterior-posterior body axis and of ectodermal derivatives such as eyes, dorsal fin and pigment cells.
View Article and Find Full Text PDFPigment Cell Melanoma Res
September 2025
Department of Biomedicine, Aarhus University, Aarhus, Denmark.
Low density lipoprotein receptor-related protein 2 (LRP2) is a 600 kilodalton multi-ligand endocytic membrane receptor expressed in several cell types during fetal development, including neuroepithelial cells, and in select absorptive epithelial cells in the adult. In epithelial cancers, LRP2 expression is associated with a differentiated tumor cell state and better prognosis. In previous work, we found that while LRP2 is not expressed in benign naevi, it is frequently acquired in melanoma.
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