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10 results for “cellular phenotyping”

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  1. ESCAPE: assigning site-specific activity to covalent ligands in cells by prime editing.

    bioRxiv : the preprint server for biology · 2026

    Chemical proteomics has identified covalent ligands targeting cysteine residues across many hundreds of human proteins. The functional effects of these liganding events, however, remain challenging to assign at scale. Here we describe ESCAPE (Endogenous Site-specific Competition Assays using Prime Editors), …

    PMID 42619774 DOI ↗

  2. Human AUTS2 regulates neurodevelopmental pathways via dual DNA/RNA binding.

    bioRxiv : the preprint server for biology · 2025

    The <i>AUTS2</i> gene is implicated in neurodevelopmental and psychiatric disorders, with patient mutations leading to intellectual disability, microcephaly, and autistic behavior. While AUTS2's chromatin-and RNA-related functions are recognized, its direct binding to RNA in human neural progenitors has not been …

    PMID 41278797 DOI ↗

  3. Tissue-resident memory CD8 T cell diversity is spatiotemporally imprinted.

    Nature · 2025 · 639(8054): 483-492

    Tissue-resident memory CD8 T (T<sub>RM</sub>) cells provide protection from infection at barrier sites. In the small intestine, T<sub>RM</sub> cells are found in at least two distinct subpopulations: one with higher expression of effector molecules and another with greater memory potential<sup>1</sup>. …

    PMID 39843748 DOI ↗

  4. Inhibition of RNA splicing triggers CHMP7 nuclear entry, impacting TDP-43 function and leading to the onset of ALS cellular phenotypes.

    Neuron · 2024 · 112(24): 4033-4047.e8

    Amyotrophic lateral sclerosis (ALS) is linked to the reduction of certain nucleoporins in neurons. Increased nuclear localization of charged multivesicular body protein 7 (CHMP7), a protein involved in nuclear pore surveillance, has been identified as a key factor damaging nuclear …

    PMID 39486415 DOI ↗

  5. Early transcriptional and epigenetic divergence of CD8+ T cells responding to acute versus chronic infection.

    PLoS biology · 2023 · 21(1): e3001983

    During a microbial infection, responding CD8+ T cells give rise to effector cells that provide acute host defense and memory cells that provide sustained protection. An alternative outcome is exhaustion, a state of T cell dysfunction that occurs in the …

    PMID 36716323 DOI ↗

  6. Pooled CRISPR screens with imaging on microraft arrays reveals stress granule-regulatory factors.

    Nature methods · 2020 · 17(6): 636-642

    Genetic screens using pooled CRISPR-based approaches are scalable and inexpensive, but restricted to standard readouts, including survival, proliferation and sortable markers. However, many biologically relevant cell states involve cellular and subcellular changes that are only accessible by microscopic visualization, and …

    PMID 32393832 DOI ↗

  7. Functional genomic analysis of the let-7 regulatory network in Caenorhabditis elegans.

    PLoS genetics · 2013 · 9(3): e1003353

    The let-7 microRNA (miRNA) regulates cellular differentiation across many animal species. Loss of let-7 activity causes abnormal development in Caenorhabditis elegans and unchecked cellular proliferation in human cells, which contributes to tumorigenesis. These defects are due to improper expression of …

    PMID 23516374 DOI ↗

  8. Differential L1 regulation in pluripotent stem cells of humans and apes.

    Nature · 2013 · 503(7477): 525-529

    Identifying cellular and molecular differences between human and non-human primates (NHPs) is essential to the basic understanding of the evolution and diversity of our own species. Until now, preserved tissues have been the main source for most comparative studies between …

    PMID 24153179 DOI ↗

  9. Evidence for premature aging due to oxidative stress in iPSCs from Cockayne syndrome.

    Human molecular genetics · 2012 · 21(17): 3825-34

    Cockayne syndrome (CS) is a human premature aging disorder associated with neurological and developmental abnormalities, caused by mutations mainly in the CS group B gene (ERCC6). At the molecular level, CS is characterized by a deficiency in the transcription-couple DNA …

    PMID 22661500 DOI ↗

  10. A model for neural development and treatment of Rett syndrome using human induced pluripotent stem cells.

    Cell · 2010 · 143(4): 527-39

    Autism spectrum disorders (ASD) are complex neurodevelopmental diseases in which different combinations of genetic mutations may contribute to the phenotype. Using Rett syndrome (RTT) as an ASD genetic model, we developed a culture system using induced pluripotent stem cells (iPSCs) …

    PMID 21074045 DOI ↗

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