4,247 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 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.
    1. Chromosomes and Gene Expression
    2. Evolutionary Biology

    A recurrent regulatory change underlying altered expression and Wnt response of the stickleback armor plates gene EDA

    Natasha M O'Brown et al.
    An identical DNA base pair change has occurred in divergent sticklebacks to alter the expression of a major developmental gene controlling armor plates, thus providing a molecular link between particular enhancer changes, cell signaling, and repeated skeletal evolution in natural populations.
    1. Structural Biology and Molecular Biophysics

    Patient-specific mutations impair BESTROPHIN1’s essential role in mediating Ca2+-dependent Cl- currents in human RPE

    Yao Li et al.
    A multidisciplinary platform featured by patient-derived RPEs is established to study the disease-causing mechanisms of BEST1 mutations, and demonstrates gene-supplemented rescue of the mutation-caused deficiency in Ca2+-dependent Cl- current in human RPE.
    1. Cancer Biology
    2. Computational and Systems Biology

    Non-coding cancer driver candidates identified with a sample- and position-specific model of the somatic mutation rate

    Malene Juul et al.
    A new statistical approach identifies non-coding regulatory regions of genes as driver candidates with recurrent mutations across cancer samples that associate with gene expression, patient survival or mutational phenotype.
  1. Point of view: Motivating participation in open science by examining researcher incentives

    Sarah E Ali-Khan et al.
    A survey of researchers at the Montreal Neurological Institute and Hospital provides insights into the challenges and opportunities involved in adopting an open science policy across an entire patient-oriented academic institution.
    1. Evolutionary Biology

    Experimental Evolution: A sticky solution

    David Gresham
    Insight
    Available as:
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  2. Science Policy: Reforming research assessment

    Randy Schekman, Mark Patterson
    It is time for the research community to rethink how the outputs of scientific research are evaluated and, as the San Francisco Declaration on Research Assessment makes clear, this should involve replacing the journal impact factor with a broad range of more meaningful approaches.
    Editorial
    Available as:
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    1. Computational and Systems Biology

    Meta-Research: Incidences of problematic cell lines are lower in papers that use RRIDs to identify cell lines

    Zeljana Babic et al.
    The use of Research Resource Identifiers (RRIDs) improves the proper use of cell lines in the biomedical literature.
    1. Developmental Biology

    The Natural History of Model Organisms: An organismal perspective on C. intestinalis development, origins and diversification

    Matthew J Kourakis, William C Smith
    The life cycle and morphology of the sea squirt Ciona intestinalis shed light on vertebrate evolution.
  3. Meta-Research: How significant are the public dimensions of faculty work in review, promotion and tenure documents?

    Juan P Alperin et al.
    An analysis of review, promotion and tenure documents from 129 US and Canadian universities suggests institutions could better fulfill their public missions by changing how they incentivize the public dimensions of faculty work.

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