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  1. Equity in action: The Diagnostic Working Group of The Undiagnosed Diseases Network International

    Rare diseases are recognized as a global public health priority. A timely and accurate diagnosis is a critical enabler for precise and personalized...

    Elizabeth Emma Palmer, Helene Cederroth, ... Lorenzo D. Botto in npj Genomic Medicine
    Article Open access 05 July 2024
  2. Striatal projection neurons coexpressing dopamine D1 and D2 receptors modulate the motor function of D1- and D2-SPNs

    The role of the striatum in motor control is commonly assumed to be mediated by the two striatal efferent pathways characterized by striatal...

    Patricia Bonnavion, Christophe Varin, ... Bruno Giros in Nature Neuroscience
    Article 04 July 2024
  3. The chromatin accessibility and transcriptomic landscape of the aging mice cochlea and the identification of potential functional super-enhancers in age-related hearing loss

    Background

    Presbycusis, also referred to as age-related hearing loss (ARHL), is a condition that results from the cumulative effects of aging on an...

    Chanyuan Zhang, Ting Yang, ... Wei Yuan in Clinical Epigenetics
    Article Open access 04 July 2024
  4. LINE1 mediates long-range DNA interactions

    Yonghao Liang, Ting Wang in Nature Genetics
    Article 04 July 2024
  5. Central nervous system-associated macrophages modulate the immune response following stroke in aged mice

    Age is a major nonmodifiable risk factor for ischemic stroke. Central nervous system-associated macrophages (CAMs) are resident immune cells located...

    Damien Levard, Célia Seillier, ... Marina Rubio in Nature Neuroscience
    Article 03 July 2024
  6. Homopolymer switches mediate adaptive mutability in mismatch repair-deficient colorectal cancer

    Mismatch repair (MMR)-deficient cancer evolves through the stepwise erosion of coding homopolymers in target genes. Curiously, the MMR genes MutS...

    Hamzeh Kayhanian, William Cross, ... Marnix Jansen in Nature Genetics
    Article Open access 03 July 2024
  7. Respiratory infection- and asthma-prone, low vaccine responder children demonstrate distinct mononuclear cell DNA methylation pathways

    Background

    Infants with frequent viral and bacterial respiratory infections exhibit compromised immunity to routine immunizations. They are also more...

    David Martino, Nikki Schultz, ... Michael Pichichero in Clinical Epigenetics
    Article Open access 03 July 2024
  8. Constraints on the subsecond modulation of striatal dynamics by physiological dopamine signaling

    Dopaminergic neurons play a crucial role in associative learning, but their capacity to regulate behavior on subsecond timescales remains debated. It...

    Charltien Long, Kwang Lee, ... Sotiris C. Masmanidis in Nature Neuroscience
    Article 03 July 2024
  9. A feature-specific prediction error model explains dopaminergic heterogeneity

    The hypothesis that midbrain dopamine (DA) neurons broadcast a reward prediction error (RPE) is among the great successes of computational...

    Rachel S. Lee, Yotam Sagiv, ... Nathaniel D. Daw in Nature Neuroscience
    Article 03 July 2024
  10. Improving transparency of computational tools for variant effect prediction

    Rachel Karchin, Predrag Radivojac, ... Dmitriy Sonkin in Nature Genetics
    Article 02 July 2024
  11. Author Correction: Meta-reinforcement learning via orbitofrontal cortex

    Ryoma Hattori, Nathan G. Hedrick, ... Takaki Komiyama in Nature Neuroscience
    Article Open access 02 July 2024
  12. Neural representation of human experimenters in the bat hippocampus

    Here we conducted wireless electrophysiological recording of hippocampal neurons from Egyptian fruit bats in the presence of human experimenters. In...

    Madeleine C. Snyder, Kevin K. Qi, Michael M. Yartsev in Nature Neuroscience
    Article Open access 02 July 2024
  13. Direct neuronal reprogramming of mouse astrocytes is associated with multiscale epigenome remodeling and requires Yy1

    Direct neuronal reprogramming is a promising approach to regenerate neurons from local glial cells. However, mechanisms of epigenome remodeling and...

    Allwyn Pereira, Jeisimhan Diwakar, ... Magdalena Götz in Nature Neuroscience
    Article Open access 02 July 2024
  14. A novel heterozygous TMEM63A variant in a familial case with early onset nystagmus, severe hypomyelination, and a favorable adult prognosis

    Heterozygous transmembrane protein 63A ( TMEM63A ) variants cause transient infantile hypomyelinating leukodystrophy-19, which features remarkable...

    Shota Yoneno, Kaoru Yamamoto, ... Hirofumi Komaki in Journal of Human Genetics
    Article 01 July 2024
  15. Map** spatially resolved transcriptomes in human and mouse pulmonary fibrosis

    Idiopathic pulmonary fibrosis (IPF) is a progressive lung disease with poor prognosis and limited treatment options. Efforts to identify effective...

    Lovisa Franzén, Martina Olsson Lindvall, ... Jorrit J. Hornberg in Nature Genetics
    Article Open access 01 July 2024
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