Results 71 to 80 of about 26,229 (202)

KRAS G13D sensitivity to neurofibromin-mediated GTP hydrolysis [PDF]

Proceedings of the National Academy of Sciences, 2019
KRASmutations occur in ∼35% of colorectal cancers and promote tumor growth by constitutively activating the mitogen-activated protein kinase (MAPK) pathway.KRASmutations at codons 12, 13, or 61 are thought to prevent GAP protein-stimulated GTP hydrolysis and renderKRAS-mutated colorectal cancers unresponsive to epidermal growth factor receptor (EGFR ...
Dana Rabara, Timothy H. Tran, Srisathiyanarayanan Dharmaiah, Robert M. Stephens, Frank McCormick, Dhirendra K. Simanshu, Matthew Holderfield   +6 more
openaire   +4 more sources

The association between neural crest‐derived glia and melanocyte lineages throughout development and disease

Developmental Dynamics, EarlyView.
Abstract Neural crest cells are a transient cell population that emerges from the dorsal neural tube during neurulation and migrates extensively throughout the embryo. Among their diverse derivatives, glial cells (such as Schwann and satellite ganglionic cells) and melanocytes represent two major lineages. In vitro studies suggested they share a common
Chaya Kalcheim
wiley   +1 more source

Children with 5′-end NF1 gene mutations are more likely to have glioma [PDF]

, 2017
Objective:To ascertain the relationship between the germline NF1 gene mutation and glioma development in patients with neurofibromatosis type 1 (NF1).Methods:The relationship between the type and location of the germline NF1 mutation and the presence of ...
Anastasaki, Corina, Gao, Feng, Gutmann, David H, Morris, Stephanie M   +3 more
core   +2 more sources

Neurofibromin signaling and synapses

Journal of Biomedical Science, 2007
Neurofibromin, encoded by the Neurofibromatosis type I (NF1) gene, has been shown to regulate the Ras and cAMP signaling pathways. The signaling functions of neurofibromin may account for tumor formation in patients with NF1, as well as influencing neuronal function.
openaire   +2 more sources

Precision therapies for genetic epilepsies in 2025: Promises and pitfalls

Epilepsia Open, EarlyView.
Abstract By targeting the underlying etiology, precision therapies offer an exciting paradigm shift to improve the stagnant outcomes of drug‐resistant epilepsies, including developmental and epileptic encephalopathies. Unlike conventional antiseizure medications (ASMs) which only treat the symptoms (seizures) but have no effect on the underlying ...
Shuyu Wang, Emilio Perucca, Samuel F. Berkovic, Piero Perucca   +3 more
wiley   +1 more source

Pediatric glioma-associated KIAA1549:BRAF expression regulates neuroglial cell growth in a cell type-specific and mTOR-dependent manner [PDF]

, 2012
Tandem duplications involving the BRAF kinase gene have recently been identified as the most frequent genetic alteration in sporadic pediatric glioma, creating a novel fusion protein (f-BRAF) with increased BRAF activity.
Chen, Yi-Hsien, Dahiya, Sonika, Emnett, Ryan J, Gutmann, David H, Kaul, Aparna   +4 more
core   +2 more sources

Clinical and molecular features of primary gliosarcoma with digital spatial whole‐transcriptome analysis of glial and mesenchymal components

Brain Pathology, EarlyView.
We report the clinical and genetic features of an institutional cohort of primary adult gliosarcomas compared to glioblastoma. We performed spatial whole‐transcriptome analysis on glial and sarcomatous regions of four cases to compare gene expression profiles and validated differential protein expression for two markers in tissue sections.
Matthew D. Wood, Gabriel Zangirolani, Jinho Lee, Melanie H. Hakar, Tanaya Neff, Kevin Y. Zhang, Christopher L. Corless   +6 more
wiley   +1 more source

Behavioral and Sleep Disorders in Neurofibromatosis

Pediatric Neurology Briefs, 2005
The behavior and sleep patterns of 64 children (mean age 10 years 7 months) with neurofibromatosis type 1 (NF1) were determined by mail and telephone questionnaire in a study at Park Hospital, University of Oxford, UK.
J Gordon Millichap
doaj   +1 more source

Neurofibromatosis in Children: Actually and Perspectives

Children, 2022
The three types of neurofibromatosis, namely type 1, type 2, and schwannomatosis, are generally associated with various benign tumors affecting the skin and the nervous system. On rare occasions, especially in patients with neurofibromatosis type 1 (NF1),
Maria Lucia Sur, Ionel Armat, Genel Sur, Diana-Cristina Pop, Gabriel Samasca, Iulia Lupan, Teodora-Larisa Timis, Ioan-Alexandru Florian, Daniel Sur   +8 more
doaj   +1 more source

The Spacing Effect for Structural Synaptic Plasticity Provides Specificity and Precision in Plastic Changes [PDF]

, 2017
In contrast to trials of training without intervals (massed training), training trials spaced over time (spaced training) induce a more persistent memory identified as long-term memory (LTM).
Gelb, Bruce, Pagani, Mario Rafael, Rela, Lorena, San Martín, Alvaro   +3 more
core   +1 more source