263 results found
    1. Developmental Biology

    Quantification of gene expression patterns to reveal the origins of abnormal morphogenesis

    Neus Martínez-Abadías et al.
    Quantitative analyses associating the morphology of developing organs with dynamic gene expression patterns can reveal biological phenomena that cause malformations and malfunction but remain elusive to traditional qualitative assessments.
    1. Cell Biology

    Biallelic TANGO1 mutations cause a novel syndromal disease due to hampered cellular collagen secretion

    Caroline Lekszas et al.
    The first human TANGO1-associated syndromal disease manifests as impaired collagen secretion, highlighting the importance of TANGO1 in human pathophysiology.
    1. Structural Biology and Molecular Biophysics
    2. Chromosomes and Gene Expression

    Structure of the active form of human origin recognition complex and its ATPase motor module

    Ante Tocilj et al.
    The human Origin Replication Complex is shaped as a shallow corkscrew in a classic AAA+ organization reminiscent of clamp loader complexes with highly controlled ATPase activity as exemplified by Meier-Gorlin syndrome mutations.
    1. Neuroscience

    Rai1 frees mice from the repression of active wake behaviors by light

    Shanaz Diessler et al.
    Halving dosage of the Smith-Magenis syndrome responsible gene Rai1 in the mouse greatly amplifies the direct, suppressing effects of light on active-wake behavior through increased activation of the ventral-subparaventricular zone.
    1. Cell Biology
    2. Chromosomes and Gene Expression

    Sister kinetochore splitting and precocious disintegration of bivalents could explain the maternal age effect

    Agata P Zielinska et al.
    Multiple age-related changes in chromosome architecture could explain why human oocyte aneuploidy increases with advanced maternal age.
    1. Neuroscience

    Motoneuron Wnts regulate neuromuscular junction development

    Chengyong Shen et al.
    A novel role of motoneuron Wnts in regulating presynaptic development at the neuromuscular junction.
    1. Developmental Biology
    2. Medicine

    CHARGE syndrome modeling using patient-iPSCs reveals defective migration of neural crest cells harboring CHD7 mutations

    Hironobu Okuno et al.
    Neural crest cells differentiated from patient-derived cells with mutations in the chromatin remodeler CHD7 show defective delamination, migration and motility in vitro, and defective migration in chick embryos.
    1. Neuroscience

    Impaired spatial memory codes in a mouse model of Rett syndrome

    Sara E Kee et al.
    Hypersynchrony in a mouse model of Rett syndrome impairs ripple-dependent memory consolidation and leads to a decrease in experience-dependent refinement of place cell activities.
    1. Genetics and Genomics
    2. Medicine

    KDM5A mutations identified in autism spectrum disorder using forward genetics

    Lauretta El Hayek et al.
    Successful autism spectrum disorder gene discovery using forward genetics identifies KDM5A, which encodes a histone H3 lysine 4 demethylase, as a disease gene.
    1. Computational and Systems Biology
    2. Neuroscience

    Differences in topological progression profile among neurodegenerative diseases from imaging data

    Sara Garbarino et al.
    Computational-driven, imaging-based topological profiles of neurodegeneration differ substantially in different neurodegenerative conditions, suggesting distinct modes of dependence of the pathological spread on the underlying connectivity.

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