Results 221 to 230 of about 902,976 (291)

Tubulin glutamylation regulates axon guidance via the selective tuning of microtubule-severing enzymes. [PDF]

open access: yesEMBO J
Ten Martin D   +14 more
europepmc   +1 more source

Composition‐Aware Cross‐Sectional Integration for Spatial Transcriptomics

open access: yesAdvanced Intelligent Discovery, EarlyView.
Multi‐section spatial transcriptomics demands coherent cell‐type deconvolution, domain detection, and batch correction, yet existing pipelines treat these tasks separately. FUSION unifies them within a composition‐aware latent framework, modeling reads as cell‐type–specific topics and clustering in embedding space.
Qishi Dong   +5 more
wiley   +1 more source

A Novel Constitutional TUBB Variant Associated With Familial Malformations of Cortical Development

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Most pathogenic tubulin variants arise de novo in sporadic patients, causing severe brain malformations and significant neurodevelopmental impairment. The resulting reproductive disadvantage typically prevents these mutations from being transmitted to offspring.
Elena Cellini   +9 more
wiley   +1 more source

Genetic Variation in ADHD‐Related Risk Genes in an Indigenous Population of the Amazon

open access: yesAmerican Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Attention‐Deficit/Hyperactivity Disorder (ADHD) is a highly heritable neurodevelopmental disorder; however, its genetic architecture remains poorly explored in Indigenous populations. This study aimed to analyze and characterize genetic variation in 11 genes (ADGRL3, CDH8, DCC, DUSP6, FOXP1, FOXP2, MEF2C, PCDH7, SEMA6D, SORCS3, and ST3GAL3 ...
Hirlesson Paixão de Matos   +11 more
wiley   +1 more source

Establishing Sensory Neurons as Therapeutic Targets in Peripheral Neuropathy Driven by Polyglutamine Expanded Murine ATXN3

open access: yesAnnals of Neurology, EarlyView.
Repeat expansion disorders frequently involve peripheral neuropathy, yet mechanisms remain unclear. Using a spinocerebellar ataxia type 3 (SCA3) Knock‐In Atxn3Q300/Q6, we identify progressive sensorimotor deficits, peripheral nerve pathology, and dorsal root ganglia RNA splicing dysregulation.
Juan P. Mato   +7 more
wiley   +1 more source

Rac1 and Nectin3 are essential for planar cell polarity-directed axon guidance in the peripheral auditory system.

open access: yesDevelopment
Clancy S   +11 more
europepmc   +1 more source

Circulating Exosomes Drive Persistent Neuronal Dysfunction in Post‐Herpetic Neuralgia Patients

open access: yesAnnals of Neurology, EarlyView.
Proposed model of exosome‐mediated neuronal dysfunction in post‐herpetic neuralgia (PHN). (1) Circulating, non‐pathogenic exosomes maintain homeostatic processes in healthy skin, where sensory nerve fibers innervate the epidermis and dermis. (2) During acute zoster, reactivating varicella zoster virus (VZV) travels down neurites to the skin causing ...
Christy S. Niemeyer   +14 more
wiley   +1 more source

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