38 results found
    1. Developmental Biology
    2. Neuroscience

    Phenotypic outcomes in Mouse and Human Foxc1 dependent Dandy-Walker cerebellar malformation suggest shared mechanisms

    Parthiv Haldipur et al.
    Building on previous work (Haldipur et al., 2014), we show that many key mechanisms controlling cerebellar development are likely conserved between mouse and human, and validate our mouse model of Dandy-Walker malformation.
    1. Developmental Biology
    2. Neuroscience

    Foxc1 dependent mesenchymal signalling drives embryonic cerebellar growth

    Parthiv Haldipur et al.
    The mesenchyme surrounding the developing brain plays a significant role in controlling the fundamental growth and patterning of the cerebellum, and misregulation of this signalling can lead to important neurodevelopmental disorders.
    1. Developmental Biology

    Deregulated FGF and homeotic gene expression underlies cerebellar vermis hypoplasia in CHARGE syndrome

    Tian Yu et al.
    Mutations in CHD7, which cause CHARGE syndrome, cause a reduction in FGF8 signalling and subsequent abnormalities in the cerebellar vermis in both mice and humans.
    1. Developmental Biology
    2. Neuroscience

    Maturation of Purkinje cell firing properties relies on neurogenesis of excitatory neurons

    Meike E van der Heijden et al.
    Intersectional genetics show that excitatory neurons are essential for the functional and anatomical maturation of cerebellar circuits in mice.
    1. Neuroscience

    Cerebellar associative sensory learning defects in five mouse autism models

    Alexander D Kloth et al.
    Five mouse models of autism show deficits in delay eyeblink conditioning, a form of split-second sensory learning that involves the cerebellum, a frequent site of disruption in autistic brains.
    1. Cell Biology
    2. Genetics and Genomics

    Mapping endothelial-cell diversity in cerebral cavernous malformations at single-cell resolution

    Fabrizio Orsenigo et al.
    Single-cell RNA analysis of brain endothelium identifies the angiogenic venous capillary subset and respective resident endothelial progenitors at the origin of CCM lesions, while arterial endothelial cells are unaffected.
    1. Cell Biology
    2. Developmental Biology

    Shear stimulation of FOXC1 and FOXC2 differentially regulates cytoskeletal activity during lymphatic valve maturation

    Pieter R Norden et al.
    Genetic and molecular analyses show that FOXC1 and FOXC2 play a role in controlling lymphatic valve maintenance as key mediators of mechanotransduction to control cytoskeletal organization and RhoA/ROCK signaling.
    1. Developmental Biology

    Neural crest-specific deletion of Rbfox2 in mice leads to craniofacial abnormalities including cleft palate

    Dasan Mary Cibi et al.
    The identification of the splicing code and all the required components of alternative splicing will be crucial for a comprehensive understanding of this process in the neural crest cell biology.
    1. Cell Biology

    A pathway for Parkinson’s Disease LRRK2 kinase to block primary cilia and Sonic hedgehog signaling in the brain

    Herschel S Dhekne et al.
    Pathogenic LRRK2kinase requires Rab10 and RILPL1 to block primary cilia formation, shortening cilia on cholinergic neurons needed for a hedgehog driven circuit that supports dopaminergic neurons in mouse brain.

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