Results 101 to 110 of about 72,709 (299)
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Heterozygous variants in the AHDC1 gene are associated with Xia Gibbs Syndrome (XGS), a genetic disorder with a highly variable phenotype. Cognitive impairment, motor delay, language delay, neonatal hypotonia, and sleep apnea are considered “cardinal” signs of the disease.
Giulia Cinelli +18 more
wiley +1 more source
Kif13b Regulates PNS and CNS Myelination Through the Dlg1 Scaffold [PDF]
, 2016 Microtubule-based kinesin motors have many cellular functions, including the transport of a variety of cargos. However, unconventional roles have recently emerged, and kinesins have also been reported to act as scaffolding proteins and signaling ...
Bolino, A. +51 more
core +3 more sources
Neuronal Regulation of Schwann Cell Mitochondrial Ca2+ Signaling during Myelination [PDF]
, 2015 SummarySchwann cells (SCs) myelinate peripheral neurons to promote the rapid conduction of action potentials, and the process of myelination is known to be regulated by signals from axons to SCs.
Kazunori Kanemaru +11 more
core +1 more source
Defining Features of Gabriele‐de Vries Syndrome in Adults: A Case Report and Literature Review
American Journal of Medical Genetics Part A, EarlyView.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
wiley +1 more source
Cerebellar Abnormalities in the Neuroimaging Spectrum of CLTC‐Related Disorder
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Pathogenic variants in CLTC, which encodes the clathrin heavy chain involved in vesicle‐mediated trafficking in neurons, cause a rare neurodevelopmental disorder associated with variable severity of global developmental delay and intellectual disability and structural brain abnormalities. Although corpus callosum and white matter anomalies are
Daniel Charouf +7 more
wiley +1 more source
Psychiatric Implications of Genetic Variations in Oligodendrocytes: Insights from hiPSC Models
LifeOligodendrocyte precursor cells (OPCs) are a dynamic and heterogeneous population of glial cells essential for brain development and myelination. Beyond their well-established role in oligodendrogenesis, emerging evidence suggests that OPCs contribute to
Martina D’Angelo +4 more
doaj +1 more source
Myelination: all about Rac ‘n’ roll [PDF]
, 2007 During the development of the peripheral nervous system, Schwann cells select individual axons from a nerve bundle and establish a one-to-one relationship through a process termed "radial sorting".
Jonah R. Chan, Chan, Jonah R
core +1 more source
Monoallelic POLR3A Variants Cause Early‐Onset Peripheral Neuropathy
Annals of Neurology, EarlyView.Objective Biallelic variants in genes encoding the RNA polymerase III complex (Pol III) cause a spectrum of neurological disorders primarily affecting the central nervous system. Monoallelic variants have been reported in the POLR3B subunit only, associated with neurodevelopmental disorder, epilepsy, and peripheral neuropathy.
Luiza L. P. Ramos +46 more
wiley +1 more source
Temporal dynamics of myelination in the zebrafish spinal cord [PDF]
, 2010 Knowledge of the precise timing of myelination is critical to the success of zebrafish-based in vivo screening strategies for potential remyelination therapies.
Franklin, Robin +4 more
core +1 more source
Annals 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