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Validation of a hypomorphic variant in CDK13 as the cause of CHDFIDD with autosomal recessive inheritance through determination of an episignature.
Clin Epigenetics
January 2025
Faculty of Medicine of TUD Dresden University of Technology, Institute for Clinical Genetics, University Hospital Carl Gustav Carus at TUD Dresden University of Technology, Dresden, Germany.
Autosomal dominant CDK13-related disease is characterized by congenital heart defects, dysmorphic facial features, and intellectual developmental disorder (CHDFIDD). Heterozygous pathogenic variants, particularly missense variants in the kinase domain, have previously been described as disease causing. Using the determination of a methylation pattern and comparison with an established episignature, we reveal the first hypomorphic variant in the kinase domain of CDK13, leading to a never before described autosomal recessive form of CHDFIDD in a boy with characteristic features.
View Article and Find Full Text PDFH3K9 post-translational modifications regulate epiblast/primitive endoderm specification in rabbit blastocysts.
Epigenetics Chromatin
January 2025
Univ Lyon, Université Lyon 1, INSERM, Stem Cell and Brain Research Institute U1208, INRAE USC 1361, Bron, F-69500, France.
Post-translational modifications of histone H3 on lysine 9, specifically acetylation (H3K9ac) and tri-methylation (H3K9me3), play a critical role in regulating chromatin accessibility. However, the role of these modifications in lineage segregation in the mammalian blastocyst remains poorly understood. We demonstrate that di- and tri-methylation marks, H3K9me2 and H3K9me3, decrease during cavitation and expansion of the rabbit blastocyst.
View Article and Find Full Text PDFStructural and functional changes in the hippocampus induced by environmental exposures.
Neurosciences (Riyadh)
January 2025
From the Department of Basic Medical Sciences, College of Medicine, Taibah University, Madinah, Kingdom of Saudi Arabia.
The hippocampus, noted as (HC), plays a crucial role in the processes of learning, memory formation, and spatial navigation. Recent research reveals that this brain region can undergo structural and functional changes due to environmental exposures, including stress, noise pollution, sleep deprivation, and microgravity. This review synthesizes findings from animal and human studies, emphasizing the HC's plasticity in response to these factors.
View Article and Find Full Text PDFDNA methylation landscapes before and after Pacific Oyster Mortality Syndrome are different within and between resistant and susceptible Magallana gigas.
Sci Total Environ
January 2025
IHPE, Univ Montpellier, CNRS, IFREMER, Univ Perpignan Via Domitia, Montpellier, France. Electronic address:
Pacific oysters face recurring outbreaks of Pacific Oyster Mortality Syndrome (POMS), a polymicrobial multifactorial disease. Although this interaction is increasingly understood, the role of epigenetics (e.g.
View Article and Find Full Text PDFProtocol for transcriptomic and epigenomic analyses of tip-like endothelial cells using scRNA-seq and ChIP-seq.
STAR Protoc
January 2025
Divison of Molecular and Vascular Biology, IRDA, Kumamoto University, Kumamoto 860-0811, Japan. Electronic address:
Angiogenesis begins as endothelial cells migrate, forming a sprouting tip and subsequent growth-rich stalk cells. Here, we present a protocol for transcriptomic and epigenomic analyses of tip-like cells in cultured endothelial cells. We describe steps for stimulating human umbilical vein endothelial cells (HUVECs) with vascular endothelial cell growth factor (VEGF) to generate tip-like cells.
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