Results 241 to 250 of about 22,958 (312)
Deciphering SCN2A: A comprehensive review of rodent models of Scn2a dysfunction
Epilepsia, EarlyView.Abstract SCN2A encodes for the alpha subunit of the voltage‐gated sodium channel NaV1.2, which is involved in action potential initiation and backpropagation in excitatory neurons. Currently, it is one of the highest monogenetic risk factors for both epilepsy and autism spectrum disorder.
Katelin E. J. Scott +2 more
wiley +1 more source
Epigenetic control of cell identities from epiblast to gastrulation
The FEBS Journal, EarlyView.In this review, we present and contextualize current knowledge about the roles of epigenetic modifiers during the development of mouse epiblast to gastrulation stage. The epigenetic regulation of enhancer and promoter elements by DNA methylation, histone modifications, and chromatin accessibility in concert with lineage‐specific transcription factors ...
Katrin M. Schüle, Simone Probst
wiley +1 more source
The FEBS Journal, EarlyView.Using CRISPR‐Cas9, we engineered a genetic system allowing the dose‐dependent induction of a controllable number of DNA double‐strand breaks in Saccharomyces cerevisiae. The tool was used to study the kinetics of DNA break sensing and repair, including the spatial distribution of Tel1ATM kinase, which initiates the DNA damage response.
Morgane Auboiron +5 more
wiley +1 more source
The FEBS Journal, EarlyView.Conserved context‐dependent cis‐regulatory elements act as a major reservoir of disease‐associated polymorphisms in the human genome and are also affected by epigenetic change. This ‘state‐of‐the‐art’ review explores the latest developments in studying these enigmatic elements and how the effects of disease‐associated polymorphisms and environmentally ...
Andrew McEwan +5 more
wiley +1 more source
A guide to characterizing the dynamic mitochondria–endoplasmic reticulum contact sites
The FEBS Journal, EarlyView.The dynamism, heterogeneity, and functional complexity of mitochondria–endoplasmic reticulum contacts (MERCs) require combined methodological approaches to offset limitations of individual techniques. Here, we review available tools and methodologies for MERC research, outline key technical challenges, and discuss how recent advances deliver ...
Antigoni Diokmetzidou, Luca Scorrano
wiley +1 more source
The FEBS Journal, EarlyView.We investigated the role of the signal regulatory protein alpha (SIRPα)/CD47 axis in phagocytosis by disrupting the SIRPA gene in the THP‐1 cell line. The SIRPα KO THP‐1 cells retained their monocyte and macrophage characteristics similar to their wild‐type (WT) counterparts.
Saitong Muneekaew +5 more
wiley +1 more source
The FEBS Journal, EarlyView.A genome‐wide CRISPR‐Cas9 screen identified H3K27 methylation as a key regulator of T‐cell lymphoma sensitivity to dimethyl fumarate (DMF). Specifically, inhibition of enhancer of zeste homolog 2 (EZH2) enhanced DMF‐induced cell death in malignant T cells. These results provide functional evidence for the role of EZH2 in modulating drug sensitivity and
Jan P. Teubner +17 more
wiley +1 more source
Assessing genetic causal relationship between milk fat content and chronic kidney disease: a two-sample Mendelian randomization study. [PDF]
Ren FailJin R +6 more
europepmc +1 more source
Discovery of the widespread site-specific single-stranded nuclease family Ssn. [PDF]
Nat CommunChenal M +9 more
europepmc +1 more source
The FEBS Journal, EarlyView.KDM4A, a chromatin eraser, localizes to the centrosomes. Its demethylase activity is essential for maintaining centrosome number and integrity, independent of gene expression changes. Loss of KDM4A leads to centrosome amplification, pseudo‐bipolar spindle formation, and chromosome segregation errors, including micronuclei and chromatin bridges.
Pratim Chowdhury +16 more
wiley +1 more source