4,107 results found
    1. Genetics and Genomics
    2. Neuroscience

    Gain-of-function mutations in the UNC-2/CaV2α channel lead to excitation-dominant synaptic transmission in Caenorhabditis elegans

    Yung-Chi Huang et al.
    Caenorhabditis elegans studies indicate that gain-of-function mutations in the presynaptic voltage-gated calcium, associated with familial hemiplegic migraine in humans, result in excitatory-inhibitory imbalance in the nervous system.
    1. Epidemiology and Global Health

    The effects of a deleterious mutation load on patterns of influenza A/H3N2's antigenic evolution in humans

    Katia Koelle, David A Rasmussen
    Deleterious mutations slow down flu's antigenic evolution, make it more punctuated in nature, and reduce the virus's genetic diversity.
    1. Biochemistry and Chemical Biology
    2. Chromosomes and Gene Expression

    Mutations in SKI in Shprintzen–Goldberg syndrome lead to attenuated TGF-β responses through SKI stabilization

    Ilaria Gori et al.
    The mechanism underlying Shprintzen–Goldberg syndrome is solved and reveals that missense mutations in the transcriptional repressor SKI abolish ligand-induced SKI degradation, which results in attenuation of TGF-β transcriptional responses.
    1. Evolutionary Biology
    2. Genetics and Genomics

    Testis single-cell RNA-seq reveals the dynamics of de novo gene transcription and germline mutational bias in Drosophila

    Evan Witt et al.
    Single-cell RNA-sequencing and germline substitutions provide novel insights into how testis is a hotspot for evolutionary innovation of genes, expression, and mutation at the single-cell level.
    1. Chromosomes and Gene Expression
    2. Genetics and Genomics

    Genome-wide DNA hypomethylation and RNA:DNA hybrid accumulation in Aicardi–Goutières syndrome

    Yoong Wearn Lim et al.
    Global epigenetic perturbations and accumulation of RNA:DNA hybrids are two novel hallmarks of the lupus-like inflammatory disorder Aicardi-Goutières syndrome.
    1. Stem Cells and Regenerative Medicine

    Insulin mutations impair beta-cell development in a patient-derived iPSC model of neonatal diabetes

    Diego Balboa et al.
    Mutations causing proinsulin misfolding trigger unfolded protein response and lead to impaired proliferation and reduced mTORC1 signalling of developing beta-cells in a patient-derived induced pluripotent stem cell disease model.
    1. Genetics and Genomics

    Introduction of a male-harming mitochondrial haplotype via ‘Trojan Females’ achieves population suppression in fruit flies

    Jonci Nikolai Wolff et al.
    Mitochondrial genomes harbor male-fertility-reducing mutations that can be harnessed to control population viability as a novel approach to control economic and environmental pests.
    1. Cell Biology
    2. Immunology and Inflammation

    ATP hydrolysis by the viral RNA sensor RIG-I prevents unintentional recognition of self-RNA

    Charlotte Lässig et al.
    Mutations within the ATPase domain of RIG-I in patients with Singleton-Merten Syndrome prevent ATP-hydrolysis dependent dissociation of RIG-I from double-stranded RNA and lead to unintentional constitutive signaling through increased binding of endogenous RNA.
    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. Cancer Biology

    Hyperactivation of ERK by multiple mechanisms is toxic to RTK-RAS mutation-driven lung adenocarcinoma cells

    Arun M Unni et al.
    Cancer cells driven by mutations in KRAS or EGFR are dependent on DUSP6 to prevent ERK-induced cell death, creating a novel vulnerability for targeted therapy.

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