154 results found
    1. Cancer Biology
    2. Genetics and Genomics

    Abnormal oxidative metabolism in a quiet genomic background underlies clear cell papillary renal cell carcinoma

    Jianing Xu et al.
    A distinct class of kidney tumors is characterized not by patterns of somatic mutations, but by a distinct metabolism.
    1. Genetics and Genomics
    2. Medicine

    KDM5A mutations identified in autism spectrum disorder using forward genetics

    Lauretta El Hayek et al.
    Successful autism spectrum disorder gene discovery using forward genetics identifies KDM5A, which encodes a histone H3 lysine 4 demethylase, as a disease gene.
    1. Developmental Biology

    TALPID3 controls centrosome and cell polarity and the human ortholog KIAA0586 is mutated in Joubert syndrome (JBTS23)

    Louise A Stephen et al.
    Mutations in KIAA0586 (TALPID3) cause a severe ciliopathy called Joubert syndrome that affects organ, cell and centrosome polarity.
    1. Cancer Biology

    Renal medullary carcinomas depend upon SMARCB1 loss and are sensitive to proteasome inhibition

    Andrew L Hong et al.
    Faithful models of RMC require SMARCB1 loss for survival, and genetic and small-molecule screens identify inhibition of the ubiquitin-proteasome system (UPS) as a potential therapeutic approach for SMARCB1 deficient cancers.
    1. 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. Genetics and Genomics

    Mismatch repair deficiency endows tumors with a unique mutation signature and sensitivity to DNA double-strand breaks

    Hui Zhao et al.
    A comprehensive catalogue of somatic mutations accumulating in MMR-deficient tumors highlights their relevance in the context of human genetic evolution, for the diagnosis of microsatellite instability and the provision of targeted treatment options.
    1. Cancer Biology

    Supervised mutational signatures for obesity and other tissue-specific etiological factors in cancer

    Bahman Afsari et al.
    A supervised methodology for mutational signatures outperforms the current standard unsupervised approach revealing new tissue-dependent mutational signatures among which some for obesity.
    1. Cancer Biology
    2. Genetics and Genomics

    Single-cell lineage tracing by endogenous mutations enriched in transposase accessible mitochondrial DNA

    Jin Xu et al.
    Epigenome and Mitochondrial Barcode of Lineage from Endogenous Mutations (EMBLEM) enable tracking cell lineage in combination with chromatin profile in ATAC-seq data.
    1. Cancer Biology
    2. Cell Biology

    Human pancreatic cancer cell exosomes, but not human normal cell exosomes, act as an initiator in cell transformation

    Karoliina Stefanius et al.
    Exosomes secreted from pancreatic cancer cells can function as a classic initiator in the multi-step cellular transformation process.
    1. Neuroscience

    A homozygous loss-of-function CAMK2A mutation causes growth delay, frequent seizures and severe intellectual disability

    Poh Hui Chia et al.
    A biallelic missense mutation in the highly conserved, neuron-specific kinase CAMK2A abrogates holoenzyme assembly and causes a new inherited neurodevelopmental disease.

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