Results 61 to 70 of about 14,462 (190)

Stem Cell Differentiation Disperses Transcriptional Clusters via a Conserved Surface‐Condensate Trajectory

open access: yesAdvanced Science, EarlyView.
Stem cell differentiation follows a conserved surface condensate trajectory: H3K27ac super enhancers nucleate large RNA polymerase II clusters that grow and unfold before transcriptional activity disperses them. This work reveals how biophysical forces at enhancer surfaces dynamically build and dismantle stem cell transcription hubs, reshaping cell ...
Tim Klingberg   +18 more
wiley   +1 more source

Genomic Contributors to Congenital Diaphragmatic Hernia: Results of Exome Sequencing in 560 Probands and Cross Reference of Findings in an Independent Cohort

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT There is a strong genetic contribution to the etiology of congenital diaphragmatic hernia (CDH). This study evaluated genetic testing results and diagnostic yield for fetuses and children with CDH. This was a retrospective cohort study of exome sequencing (ES) performed at GeneDx for fetuses and children ≤ 18 years of age with CDH compared ...
Justin Blair   +9 more
wiley   +1 more source

A single cohesin complex performs mitotic and meiotic functions in the protist tetrahymena.

open access: yesPLoS Genetics, 2013
The cohesion of sister chromatids in the interval between chromosome replication and anaphase is important for preventing the precocious separation, and hence nondisjunction, of chromatids.
Rachel A Howard-Till   +3 more
doaj   +1 more source

The multifaceted roles of cohesin in cancer

open access: yesJournal of Experimental & Clinical Cancer Research, 2022
AbstractThe cohesin complex controls faithful chromosome segregation by pairing sister chromatids after DNA replication until mitosis. In addition, it is crucial for hierarchal three-dimensional organization of the genome, transcription regulation and maintaining DNA integrity.
Di Nardo Maddalena   +2 more
openaire   +3 more sources

Mutation type‐specific transcriptomic signatures and readthrough therapy rescue in SMC1A‐related developmental and epileptic encephalopathy

open access: yesEpilepsia, EarlyView.
Abstract Objective This study was undertaken to investigate the molecular consequences of pathogenic variants in the SMC1A gene—particularly those associated with developmental and epileptic encephalopathy (DEE85)—and to evaluate the therapeutic potential of ataluren in restoring SMC1A function and mitigating disease‐related transcriptomic and genomic ...
Maddalena Di Nardo   +7 more
wiley   +1 more source

Post‐Translational Modifications of Key Proteins in Hematologic Malignancies: Carcinogenic Mechanisms, Biomarker Potential, and New Therapeutic Strategies

open access: yesiLABMED, EarlyView.
This article reviews the pivotal role of post‐translational modifications of proteins in the development and progression of hematologic malignancies, and explores their clinical translation potential as novel biomarkers and therapeutic targets. ABSTRACT Post‐translational modifications (PTMs) of proteins have emerged as critical regulators in the ...
Yuxuan Han   +6 more
wiley   +1 more source

Cohesin residency determines chromatin loop patterns

open access: yeseLife, 2020
The organization of chromatin into higher order structures is essential for chromosome segregation, the repair of DNA-damage, and the regulation of gene expression.
Lorenzo Costantino   +4 more
doaj   +1 more source

Impact of Methylparaben on Cumulus Cell DNA Integrity and Porcine Oocyte Developmental Competence In Vitro

open access: yesJournal of Applied Toxicology, EarlyView.
ABSTRACT Parabens (PBs) are compounds widely used as preservatives in personal care products, food, and pharmaceuticals. Methylparaben (MePB) is the most used by different industries due to its chemical properties and low cost. The high daily human exposure to these compounds has raised concerns about their potential effects on health, particularly on ...
Yenny Ramírez‐Jara   +11 more
wiley   +1 more source

Conformational dynamics of cohesin/Scc2 loading complex are regulated by Smc3 acetylation and ATP binding

open access: yesNature Communications, 2023
The ring-shaped cohesin complex is a key player in sister chromatid cohesion, DNA repair, and gene transcription. The loading of cohesin to chromosomes requires the loader Scc2 and is regulated by ATP.
Aditi Kaushik   +8 more
doaj   +1 more source

Cohesin-independent STAG proteins interact with RNA and R-loops and promote complex loading

open access: yeseLife, 2023
Most studies of cohesin function consider the Stromalin Antigen (STAG/SA) proteins as core complex members given their ubiquitous interaction with the cohesin ring.
Hayley Porter   +12 more
doaj   +1 more source

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