Results 121 to 130 of about 174,681 (296)

UBE3A Dosage Imbalance as a Molecular Framework Linking Angelman Syndrome and Dup15q‐Associated Autism Phenotypes

open access: yesAmerican Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT UBE3A is a dosage‐sensitive HECT E3 ubiquitin ligase whose neuronal expression is shaped by genomic imprinting at the 15q11.2‐q13 locus. Opposite directions of UBE3A dosage imbalance contribute to distinct neurodevelopmental phenotypes: loss of maternal UBE3A underlies Angelman syndrome, whereas maternally derived 15q11.2‐q13 copy‐number gains,
Ruslan Kurmashev
wiley   +1 more source

Calcium-dependent activator protein for secretion 2 is involved in dopamine release in mouse midbrain neurons

open access: yesFrontiers in Molecular Neuroscience
The Ca2+-dependent activator protein for secretion (CAPS/CADPS) family protein facilitates catecholamine release through the dense-core vesicle exocytosis in model neuroendocrine cell lines.
Hirotoshi Iguchi   +16 more
doaj   +1 more source

Descriptive Epidemiology From the Myhre Syndrome Foundation Registry: The Value of Self‐Reported Data

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
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
wiley   +1 more source

Cortical Thickness and White Matter Surface Morphology in Tourette Syndrome: A Cohort Study

open access: yesAnnals of Neurology, EarlyView.
Objective To examine cortical thickness and white matter surface morphology in a large sample of individuals with Tourette syndrome (TS) and neurotypical controls across the lifespan, and to assess associations with symptom severity, comorbidities, and medication use.
Sahar Delavari   +8 more
wiley   +1 more source

Beyond water channel: Aquaporin-4 in adult neurogenesis

open access: yes, 2010
Aquaporin-4 (AQP4) is a key molecule for maintaining water and ion homeostasis associated with neuronal activity in the central nervous system, but the roles of AQP4 in adult neurogenesis remain largely unexplored. Based on preliminary evidences over the
Chen, XM   +6 more
core   +1 more source

T Cell‐Mediated Targeting of Interneurons in Mice Shapes Hippocampal Remodeling and Epilepsy

open access: yesAnnals of Neurology, EarlyView.
Objective Autoimmune encephalitis (AE) is associated with autoantibodies targeting distinct neuronal populations. In AE, antibodies against glutamate decarboxylase 65 (GAD65), expressed in GABAergic interneurons, are frequently detected. In GAD65‐AE, hippocampal biopsies often show infiltrates of CD8+ cytotoxic T cells (CTLs), suggesting a prominent T ...
Daniel S. Galvis‐Montes   +6 more
wiley   +1 more source

Biophysical Characterization and Proteomic Analysis of Small Extracellular Vesicles Derived From Different Neural Cell Lines

open access: yesAdvanced NanoBiomed Research, EarlyView.
This study systematically compares small extracellular vesicles (sEVs) derived from four neural cell lines, revealing how cellular origin shapes vesicle biophysical properties and proteomic cargo. Distinct, lineage‐specific signatures linked to neuronal, astrocytic, and microglial functions are identified, highlighting the importance of cell source ...
Muhammad Waqas Salim   +4 more
wiley   +1 more source

mTOR controls ependymal cell differentiation by targeting the alternative cell cycle and centrosomal proteins

open access: yesEMBO Reports
Ependymal cells are multiciliated glial cells lining the ventricles of the mammalian brain. Their differentiation from progenitor cells involves cell enlargement and progresses through centriole amplification phases and ciliogenesis.
Alexia Bankolé   +15 more
doaj   +1 more source

Piezoelectric Nanocomposite Hydrogel for Wireless Neural Stimulation and Tissue Augmentation

open access: yesAdvanced NanoBiomed Research, EarlyView.
A cell/tissue supporting piezoelectric hydrogel system (PZ‐gel) that incorporates ferroelectric, pyroelectric, and piezoelectric ceramic material barium titanate into an alginate/carboxymethyl chitosan hydrogel. The PZ‐gel can be sonoactivated for wireless neural cell and tissue stimulation, with the potential to be used as a stimulatory cell substrate
Mohammad Mohammadi   +3 more
wiley   +1 more source

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