4,239 results found
    1. Evolutionary Biology
    2. Genetics and Genomics

    A broad mutational target explains a fast rate of phenotypic evolution

    Fabrice Besnard et al.
    A broad mutational target is the cause of the high mutational variance and corresponding fast phenotypic evolutionary rate in P3.p cell fate in Caenorhabditis nematodes.
    1. Chromosomes and Gene Expression
    2. Genetics and Genomics

    Two locus inheritance of non-syndromic midline craniosynostosis via rare SMAD6 and common BMP2 alleles

    Andrew T Timberlake et al.
    Epistatic interactions of rare loss of function mutations in SMAD6 and a common variant modifier near BMP2 are the most common cause of midline craniosynostosis in humans.
    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. Genetics and Genomics

    Large, three-generation human families reveal post-zygotic mosaicism and variability in germline mutation accumulation

    Thomas A Sasani et al.
    Rates of germline mutation accumulation are highly variable across families of similar genetic ancestry, and post-zygotic mosaicism is a substantial source of de novo mutations.
    1. Biochemistry and Chemical Biology
    2. Structural Biology and Molecular Biophysics

    Epistatic mutations in PUMA BH3 drive an alternate binding mode to potently and selectively inhibit anti-apoptotic Bfl-1

    Justin M Jenson et al.
    Short peptides that bind tightly to anti-apoptotic protein Bfl-1 but not other Bcl-2 family members provide a tool for diagnosing cancer cell survival mechanisms and a lead for developing new therapeutics.
    1. Evolutionary Biology
    2. Genetics and Genomics

    The distribution of fitness effects among synonymous mutations in a gene under directional selection

    Eleonore Lebeuf-Taylor et al.
    Synonymous mutations can have highly variable fitness effects stemming from changes in transcription, some of which contribute to adaptation.
    1. Cancer Biology
    2. Chromosomes and Gene Expression

    Functional and mutational landscapes of BRCA1 for homology-directed repair and therapy resistance

    Rachel W Anantha et al.
    Systematic analyses of natural variants and artificial mutants establish functional landscapes of BRCA1 for homology-directed repair (HDR) and therapy resistance and identify the BRCA1-PALB2 interaction as a key control point for HDR pathway choice.
    1. Epidemiology and Global Health
    2. Genetics and Genomics

    Patterns of within-host genetic diversity in SARS-CoV-2

    Gerry Tonkin-Hill et al.
    Characterisation of within-host diversity of SARS-CoV-2 provides insights into the mutational and selective mechanisms driving its evolution and has important implications for using within-host variation to inform transmission inference efforts.
    1. Biochemistry and Chemical Biology
    2. Immunology and Inflammation

    Rasgrp1 mutation increases naïve T-cell CD44 expression and drives mTOR-dependent accumulation of Helios+ T cells and autoantibodies

    Stephen R Daley et al.
    A single point mutation in a Ras activator leads to aberrant constitutive mTOR signaling in peripheral T cells that consequently accumulate as abnormal T helper cells and stimulate the production of autoantibodies by B cells.
    1. Chromosomes and Gene Expression
    2. Genetics and Genomics

    Recurrent gain of function mutation in calcium channel CACNA1H causes early-onset hypertension with primary aldosteronism

    Ute I Scholl et al.
    A novel Mendelian disease featuring early-onset hypertension is caused by a recurrent gain of function mutation in CACNA1H, which encodes the voltage-gated calcium channel Cav3.2.

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