نتایج جستجو برای: nefl
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Abstract BACKGROUND Pediatric high-grade gliomas (pHGGs) are an aggressive CNS tumor which often characterized by mutations in H3F3A, the gene that encodes Histone H3.3 (H3.3). A substitution of Glycine at position 34 with either Arginine or Valine (H3.3G34R/V), was recently described a large cohort pHGG samples and has been as occurring anywhere between 5-20% pHGGs. Attempts to study mechanism...
OBJECTIVE In an ongoing, open-label, phase 1b study on the intrathecal administration of rituximab for progressive multiple sclerosis, an intraventricular catheter was inserted for drug delivery. The objective of this study was to characterize the limited white matter axonal injury evoked by catheter insertion by analyzing a panel of markers for tissue damage in CSF and serum. METHODS Lumbar ...
Diffuse brain invasion is a major reason for poor prognosis of glioma patients. The molecular mechanisms underlying infiltration are different from those of other cancer types. To detect genes associated with glioma invasion, highly migratory clones were selected from U373MG glioma cells and from primary glioblastoma cells, and the gene expression pattern of these "fast" cells was compared with...
INTRODUCTION Charcot-Marie-Tooth neuropathy (CMT) is a genetically heterogeneous group of peripheral neuropathies. In addition to the classical clinical phenotype, additional features can occur. METHODS We studied a wide range of additional features in a cohort of 49 genetically confirmed CMT patients and performed a systematic literature revision. RESULTS Patients harbored a PMP22 gene alt...
We report the frequency, positive rate, and type of mutations in 14 genes (PMP22, GJB1, MPZ, MFN2, SH3TC2, GDAP1, NEFL, LITAF, GARS, HSPB1, FIG4, EGR2, PRX, and RAB7A) associated with Charcot-Marie-Tooth disease (CMT) in a cohort of 17,880 individuals referred to a commercial genetic testing laboratory. Deidentified results from sequencing assays and multiplex ligation-dependent probe amplifica...
OBJECTIVES This study aimed to examine the levels of the macrophage marker sCD163 and other biomarkers at the time of diagnosis of patients with either clinically isolated syndrome (CIS) or relapsing-remitting multiple sclerosis (RRMS), and assess relation to clinical indicators of prognosis, disease activity (DA), and changes in the levels of these biomarkers at follow-up. MATERIALS AND METH...
Giant axonal neuropathy (GAN) is a progressive neurodegenerative disease caused by autosomal recessive mutations in the GAN gene resulting in a loss of a ubiquitously expressed protein, gigaxonin. Gene replacement therapy is a promising strategy for treatment of the disease; however, the effectiveness and safety of gigaxonin reintroduction have not been tested in human GAN nerve cells. Here we ...
Hereditary hearing loss (HL) is a common sensory disorder, with an incidence of 1-2 per 1000 newborns, and has a genetic etiology in over 50% of cases. It occurs either as part of a syndrome or in isolation and is genetically very heterogeneous which poses a challenge for clinical and molecular diagnosis. We used exome sequencing to seek a genetic cause in a group of 56 subjects (49 probands) w...
We used organotypic cultures of the stria vascularis (SV), the organ of Corti (OC) and the modiolus (MOD) of newborn rats to analyze the differential expression levels and responses of cytoskeletal, myelinand neural growth factor-associated genes following preparatory injury and hypoxia. The transcript mRNA levels of the neurofilaments Nefl, Nefm, the microtubule-associated proteins Mapt, Map1a...
BACKGROUND Charcot-Marie-Tooth (CMT) neuropathies are very heterogeneous disorders from both a clinical and genetic point of view. The CMT genes identified so far encode different proteins that are variably involved in regulating Schwann cells and/or axonal functions. However, the function of most of these proteins still remains to be elucidated. OBJECTIVE To characterize a large cohort of pa...
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