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    1. Genetics and Genomics
    2. Stem Cells and Regenerative Medicine

    The novel lncRNA lnc-NR2F1 is pro-neurogenic and mutated in human neurodevelopmental disorders

    Cheen Euong Ang et al.
    lnc-Nr2f1, a long non-coding RNA focally deleted in autism patients, directly occupies and regulates neuronal genes.
    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. Immunology and Inflammation
    2. Microbiology and Infectious Disease

    IRF4 haploinsufficiency in a family with Whipple’s disease

    Antoine Guérin et al.
    Autosomal dominant IRF4 deficiency is the first genetic etiology of Whipple's disease, a very rare chronic condition following a rather common infection by Tropheryma whipplei.
    1. Cell Biology
    2. Genetics and Genomics

    Rapid re-identification of human samples using portable DNA sequencing

    Sophie Zaaijer et al.
    DNA fingerprinting by portable nanopore sequencing is a novel re-identification method with applications in (clinical) laboratories and biobanks.
    1. Cancer Biology
    2. Computational and Systems Biology

    Simultaneous enumeration of cancer and immune cell types from bulk tumor gene expression data

    Julien Racle et al.
    A novel method predicts cancer and immune cell types from bulk tumor gene expression data with the ability to consider uncharacterized and possibly highly variable cell types, which is validated in human genome.
    1. Developmental Biology

    Tissue-specific regulation of BMP signaling by Drosophila N-glycanase 1

    Antonio Galeone et al.
    N-glycanase 1 is required for a BMP autoregulatory loop in the visceral mesoderm and for intestinal development in Drosophila.
    1. Human Biology and Medicine

    Effects of myosin variants on interacting-heads motif explain distinct hypertrophic and dilated cardiomyopathy phenotypes

    Lorenzo Alamo et al.
    Mapping the locations of hypertrophic cardiomyopathy gene variants onto the three-dimensional structures of contractile proteins revealed that these disrupt protein interactions are critical for normal cardiac relaxation and efficient energy usage.
    1. Genetics and Genomics
    2. Neuroscience

    Mutation in ATG5 reduces autophagy and leads to ataxia with developmental delay

    Myungjin Kim et al.
    A genetic mutation that impairs autophagic flux leads to neurodegeneration and can cause ataxia and developmental delay in children.
    1. Genetics and Genomics

    The genetic basis for ecological adaptation of the Atlantic herring revealed by genome sequencing

    Alvaro Martinez Barrio et al.
    Whole genome sequencing of 19 populations of Atlantic and Baltic herring reveals hundreds of individual loci underlying adaptation to a low salinity niche or timing of reproduction.
    1. Computational and Systems Biology
    2. Human Biology and Medicine

    Mitochondrial DNA copy number variation across human cancers

    Ed Reznik et al.
    Many tumors are depleted of mitochondrial DNA; this depletion is associated with changes in gene expression and with the incidence of critical somatic mutations and alterations.