450 results found
    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, Gabriel Stölting ... Richard P Lifton
    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.
    1. Evolutionary Biology
    2. Genetics and Genomics

    Understanding patterns of HIV multi-drug resistance through models of temporal and spatial drug heterogeneity

    Alison F Feder, Kristin N Harper ... Pleuni S Pennings
    In triple-drug-treated HIV, partially resistant viruses can spread and resistance to specific drugs evolves in a predictable order, potentially a result of spatial or temporal heterogeneity in drug concentrations.
    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, Jungmin Choi ... Richard P Lifton
    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. Neuroscience

    DRAXIN regulates interhemispheric fissure remodelling to influence the extent of corpus callosum formation

    Laura Morcom, Timothy J Edwards ... Linda J Richards
    Incomplete interhemispheric fissure remodelling determines corpus callosum size in humans and BTBR N2 mice that carry a deletion in Draxin.
    1. Immunology and Inflammation
    2. Microbiology and Infectious Disease

    IRF4 haploinsufficiency in a family with Whipple’s disease

    Antoine Guérin, Gaspard Kerner ... Jean-Laurent Casanova
    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. Chromosomes and Gene Expression
    2. Genetics and Genomics

    Craniosynostosis: An epistatic explanation

    Yoshihiro Komatsu, Yuji Mishina
    Version of Record
    Insight
    1. Evolutionary Biology
    2. Genetics and Genomics

    Selfing is the safest sex for Caenorhabditis tropicalis

    Luke M Noble, John Yuen ... Matthew V Rockman
    Out breeding depression in Caenorhabditis tropicalis is due to common maternal-offspring incompatibilities that interact with a highly heterogeneous genetic background and may provide a short-term advantage to inbreeding.
    1. Evolutionary Biology
    2. Genetics and Genomics

    Combinations of Spok genes create multiple meiotic drivers in Podospora

    Aaron A Vogan, S Lorena Ament-Velásquez ... Hanna Johannesson
    Members of a single gene family determine the genomic basis of multiple coexisting meiotic drive elements in natural populations of Podospora.
    1. Developmental Biology

    Compensatory growth renders Tcf7l1a dispensable for eye formation despite its requirement in eye field specification

    Rodrigo M Young, Thomas A Hawkins ... Stephen W Wilson
    Disruptions to eye field size have little impact on final eye size due to tissue compensatory mechanisms.
    1. Neuroscience

    Visual projection neurons in the Drosophila lobula link feature detection to distinct behavioral programs

    Ming Wu, Aljoscha Nern ... Gerald M Rubin
    Neurons called lobula columnar cells help fruit flies respond appropriately to specific visual cues, such as those signaling an approaching predator.

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