87 results found
    1. Developmental Biology
    2. Stem Cells and Regenerative Medicine

    GATA6 mutations in hiPSCs inform mechanisms for maldevelopment of the heart, pancreas, and diaphragm

    Arun Sharma, Lauren K Wasson ... Pediatric Cardiac Genomics Consortium
    Analyses of human stem cells with distinct GATA6 mutations revealed a spectrum of molecular responses that drive isolated congenital heart disease or the co-occurrence of pancreas and diaphragm malformations.
    1. Chromosomes and Gene Expression

    The structure-selective endonucleases GEN1 and MUS81 mediate complementary functions in safeguarding the genome of proliferating B lymphocytes

    Keith Conrad Fernandez, Laura Feeney ... Jayanta Chaudhuri
    A novel conditional mouse model to interrogate the requirements of structure-selective endonucleases in the development, functionality, and genome stability of B lymphocytes.
    1. Evolutionary Biology
    2. Genetics and Genomics

    A de novo evolved gene in the house mouse regulates female pregnancy cycles

    Chen Xie, Cemalettin Bekpen ... Diethard Tautz
    A female specifically expressed new protein-coding gene that has emerged out of non-coding sequences without detectable signatures of adaptive evolution affects female pregnancy cycles.
    1. Genetics and Genomics

    Xist RNA binds select autosomal genes and depends on Repeat B to regulate their expression

    Shengze Yao, Yesu Jeon ... Jeannie T Lee
    Revised
    Reviewed Preprint v2
    Updated
    • Valuable
    • Incomplete
    1. Computational and Systems Biology
    2. Chromosomes and Gene Expression

    Thousands of novel translated open reading frames in humans inferred by ribosome footprint profiling

    Anil Raj, Sidney H Wang ... Jonathan K Pritchard
    Over 7,000 novel translated sequences have been identified from human cells, including several hundred in annotated noncoding RNA, pseudogenes and de novo assembled transcripts.
    1. Chromosomes and Gene Expression
    2. Computational and Systems Biology

    Nanopore direct RNA sequencing maps the complexity of Arabidopsis mRNA processing and m6A modification

    Matthew T Parker, Katarzyna Knop ... Gordon G Simpson
    Sequencing mRNA directly with nanopores can reveal the authentic combinations of multiple mRNA processing events in full-length mRNA molecules in addition to identifying base modifications.
    1. Chromosomes and Gene Expression
    2. Genetics and Genomics

    Defining the location of promoter-associated R-loops at near-nucleotide resolution using bisDRIP-seq

    Jason G Dumelie, Samie R Jaffrey
    Genome-wide profiling of R-loops at near single-nucleotide resolution reveals distinct R-loop boundaries depending on the presence and location of the first exon-intron junction.
    1. Biochemistry and Chemical Biology
    2. Genetics and Genomics

    Genome-wide dynamics of Pol II elongation and its interplay with promoter proximal pausing, chromatin, and exons

    Iris Jonkers, Hojoong Kwak, John T Lis
    The elongation rate of RNA Polymerase II varies greatly between and along genes, as this enzyme accelerates from stable pausing to rapid elongation within genes, and is influenced by CG-content, exons and chromatin.
    1. Neuroscience
    2. Microbiology and Infectious Disease

    Social interaction-induced activation of RNA splicing in the amygdala of microbiome-deficient mice

    Roman M Stilling, Gerard M Moloney ... John F Cryan
    Social-interaction impairment in germ-free mice is associated with a markedly altered transcriptional response to social novelty in the amygdala, as characterised by replacement of upregulation of common stimulus-induced pathways with upregulation of the splicing machinery.
    1. Genetics and Genomics

    Native functions of short tandem repeats

    Shannon E Wright, Peter K Todd
    The mechanisms by which non-pathologic short tandem repeats normally influence gene expression and engender rapid genetic variation across phylogeny directly inform how expansions in these same repeats elicit neurological disease.

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