6,706 results found
    1. Computational and Systems Biology
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    Meta-Research: Releasing a preprint is associated with more attention and citations for the peer-reviewed article

    Darwin Y Fu, Jacob J Hughey
    An analysis of more than 70,000 journal articles, including 5405 that were first released as a preprint on bioRxiv, shows that articles with a preprint received 49% more attention and 36% more citations than articles without one.
    1. Genetics and Genomics

    Mutations primarily alter the inclusion of alternatively spliced exons

    Pablo Baeza-Centurion et al.
    Deep mutagenesis reveals that mutations rarely alter the inclusion of highly-included exons.
    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. Computational and Systems Biology

    Structural basis of the effect of activating mutations on the EGF receptor

    Ioannis Galdadas et al.
    Computational methods reveal how mutations affect the conformational landscape of the kinase domain of EGFR resulting in abnormal signaling and provide a structural framework for ongoing drug discovery efforts on mutant-specific EGFR inhibition.
    1. Genetics and Genomics
    2. Cancer Biology

    Origins and functional consequences of somatic mitochondrial DNA mutations in human cancer

    Young Seok Ju et al.
    Identifying 1,907 mitochondrial somatic mutations from 1,675 tumor tissues provides new insights into the causes and effects of the mitochondrial genome mutations found in human cancers.
    1. Cancer Biology
    2. Developmental Biology

    Fetal and neonatal hematopoietic progenitors are functionally and transcriptionally resistant to Flt3-ITD mutations

    Shaina N Porter et al.
    Age-specific transcriptional responses to Flt3-ITD and cooperating Flt3/Runx1 mutations cause hematopoietic stem cell depletion and myeloid progenitor expansion during adult, but not fetal/neonatal, stages of development.
    1. Developmental Biology

    NKX2-5 mutations causative for congenital heart disease retain functionality and are directed to hundreds of targets

    Romaric Bouveret et al.
    Some NKX2-5 mutations that cause congenital heart disease retain transcriptional activity and can bind to many off-target genes, in part through their interactions with cofactors.
    1. Computational and Systems Biology
    2. Genetics and Genomics

    The genetic landscape for amyloid beta fibril nucleation accurately discriminates familial Alzheimer’s disease mutations

    Mireia Seuma et al.
    A massively parallel analysis of the effects of mutations on amyloid beta nucleation provide the first comprehensive atlas of how mutations alter the formation of amyloid fibrils.
    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. Computational and Systems Biology
    2. Structural Biology and Molecular Biophysics

    Computational design of thermostabilizing point mutations for G protein-coupled receptors

    Petr Popov et al.
    A comprehensive approach to prediction of stabilizing mutations in G-protein coupled receptors yields high hit rate and crystal structures of 5HT2C in both active and inactive states.

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