Defining Features of Gabriele‐de Vries Syndrome in Adults: A Case Report and Literature Review
ABSTRACT Gabriele‐de Vries syndrome (GADEVS) is a neurodevelopmental disorder caused by heterozygous pathogenic variants in the YY1 gene. Like most rare genetic syndromes, the adult manifestations of GADEVS remain poorly defined. Here, we describe the oldest patient reported to date with GADEVS—a 63‐year‐old woman with a c.1177_1179del YY1 variant ...
Ethan W. Hollingsworth, Changrui Xiao
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Differential regulation of p62-ubiquitin conjugates in neurons versus astrocytes during cellular stress. [PDF]
Sidibe DK +4 more
europepmc +1 more source
ABSTRACT Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The natural history of Myhre syndrome is still not fully understood due to a small patient population ...
Mary K. Young +6 more
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Genotoxicity and genomic instability caused by intermediate frequency magnetic fields in rat astrocytes [PDF]
A. Blomme
core
JUND-driven stress-responsive astrocytes promote neuronal apoptosis via enhanced gap junction signaling in autism spectrum disorder. [PDF]
Wang Q +13 more
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The gut–brain axis is a bidirectional communication network between the intestines and brain, mediated by gut microbiota and exosomes, that regulates neuroinflammation, protein aggregation, and neuronal health processes central to neurodegenerative diseases.
Waheeb Sami Aggad +9 more
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Cellular and subcellular heterogeneity of astrocytic Na⁺ homeostasis tuning astrocytes into functionally distinct subgroups in the mouse brain. [PDF]
Meyer J +12 more
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The tango of immune and neural cells: orchestrating neuroinflammation mediated brain disorders. [PDF]
Wu Y +5 more
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The adhesion GPCR ADGRV1 controls glutamate homeostasis in hippocampal astrocytes supporting neurons. [PDF]
Güler BE +4 more
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Unraveling the emerging role of glial heterogeneity in neuropathic pain: from pathological mechanisms to therapeutic Frontiers. [PDF]
Li Z, Lu J, Chen Z.
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