299 results found
    1. Human Biology and Medicine

    A homozygous FANCM mutation underlies a familial case of non-syndromic primary ovarian insufficiency

    Baptiste Fouquet et al.
    Bilallelic mutations of FANCM, a DNA-damage response gene whose heterozygous mutations predispose to breast cancer, are involved in a familial case of Primary Ovarian Insufficiency establishing a link between infertility and cancer.
    1. Chromosomes and Gene Expression
    2. Human Biology and Medicine

    A promoter interaction map for cardiovascular disease genetics

    Lindsey E Montefiori et al.
    Promoter capture Hi-C in human iPSCs and iPSC-derived cardiomyocytes provides a platform to interrogate gene-regulatory dynamics of cardiomyocyte differentiation and directly links thousands of cardiovascular disease risk loci to hundreds of distal target genes.
    1. Chromosomes and Gene Expression

    H3.3K27M mutant proteins reprogram epigenome by sequestering the PRC2 complex to poised enhancers

    Dong Fang et al.
    Redistribution of the PRC2 complex in H3.3K27M mutant cells to poised enhancers contributes to the global reduction of H3K27me3 in cells expressing the mutant proteins.
    1. Biochemistry and Chemical Biology
    2. Structural Biology and Molecular Biophysics

    Synthetic single domain antibodies for the conformational trapping of membrane proteins

    Iwan Zimmermann et al.
    Synthetic single domain antibody libraries and a binder selection cascade encompassing ribosome and phage display enable the selection of conformation-specific binders against previously intractable membrane proteins within three weeks.
    1. Epidemiology and Global Health

    Conjunction of factors triggering waves of seasonal influenza

    Ishanu Chattopadhyay et al.
    Three complementary computational approaches reveal a set of putative causes of initiation of pan-USA waves of influenza.
    1. Cancer Biology

    Non-invasive detection of urothelial cancer through the analysis of driver gene mutations and aneuploidy

    Simeon U Springer et al.
    The creation of a non-invasive assay for detecting urothelial cancer could have a profound impact on how we find and treat the disease.
    1. Cell Biology
    2. Developmental Biology

    Proteolytic processing of palmitoylated Hedgehog peptides specifies the 3-4 intervein region of the Drosophila wing

    Sabine Schürmann et al.
    Proteolysis of lipidated N-terminal peptides that tether Hedgehog morphogens to the surface of source cells is absolutely required for their coupled release and bioactivation in vivo in Drosophila melanogaster.
    1. Neuroscience

    Orphan receptor GPR158 controls stress-induced depression

    Laurie P Sutton et al.
    The orphan receptor GPR158 is highly regulated by stress exposure and acts on key neuronal signaling pathways in the prefrontal cortex to control depressive-like behaviors.
    1. Structural Biology and Molecular Biophysics
    2. Chromosomes and Gene Expression

    Nuclear microenvironments modulate transcription from low-affinity enhancers

    Albert Tsai et al.
    Efficient transcription from low-affinity enhancers is driven by nuclear microenvironments of transcription factors.
    1. Chromosomes and Gene Expression

    Cooperative interactions enable singular olfactory receptor expression in mouse olfactory neurons

    Kevin Monahan et al.
    Biochemical and genetic experiments show that Ebf and Lhx2 cooperate to specify olfactory receptor enhancers, which cooperate to drive olfactory receptor expression.

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