Results 71 to 80 of about 26,437 (217)

Neurofibromin 1 regulates early developmental sleep in Drosophila

Neurobiology of Sleep and Circadian Rhythms, 2023
Sleep disturbances are common in neurodevelopmental disorders, but knowledge of molecular factors that govern sleep in young animals is lacking. Evidence across species, including Drosophila, suggests that juvenile sleep has distinct functions and ...
Jaclyn Durkin, Amy R. Poe, Samuel J. Belfer, Anyara Rodriguez, Si Hao Tang, James A. Walker, Matthew S. Kayser   +6 more
doaj   +1 more source

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

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

Síndrome de moyamoya associada a neurofibromatose tipo I em paciente pediátrico [PDF]

, 2011
CONTEXT: Neurofibromatosis type 1 (NF-1) is the most prevalent autosomal dominant genetic disorder among humans. Moyamoya disease is a cerebral vasculopathy that is only rarely observed in association with NF-1, particularly in the pediatric age range ...
DARRIGO JÚNIOR, Luiz Guilherme, MACHADO, André de Aboim, SANTOS, Antonio Carlos dos, SCRIDELI, Carlos Alberto, TONE, Luiz Gonzaga, VALERA, Elvis Terci   +5 more
core   +1 more source

Periodontal Disease and Salivary Gland Dysfunction in Neurofibromatosis Type 1: A Case–Control Study

Oral Diseases, EarlyView.
ABSTRACT Objectives Neurofibromatosis type 1 (NF1) presents with diverse systemic and oral manifestations. The aim of this study was to investigate the periodontal status and salivary alterations in NF1 individuals. Methods A total of 38 individuals with NF1 diagnostic criteria were compared with a control group paired by age and sex.
Eloá Borges Luna, Gustavo de Souza Vieira, Flávia Lima Kleinsorgen Motta, Ana Beatriz Oliveira Gambôa, Analúcia Rampazzo Xavier, Rafaela Elvira Rozza‐de‐Menezes, Karin Soares Cunha   +6 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

Integrative analysis identifies candidate tumor microenvironment and intracellular signaling pathways that define tumor heterogeneity in NF1 [PDF]

, 2020
Neurofibromatosis type 1 (NF1) is a monogenic syndrome that gives rise to numerous symptoms including cognitive impairment, skeletal abnormalities, and growth of benign nerve sheath tumors.
Allaway, Robert J, Baker, Aaron, Banerjee, Jineta, Blakeley, Jaishri O, Gosline, Sara Jc, Greene, Casey S, Guinney, Justin, Hirbe, Angela, Moon, Chang In, Pratilas, Christine A, Taroni, Jaclyn N, Zhang, Xiaochun   +11 more
core   +2 more sources

Neurodevelopmental and Psychiatric Studies in Children and Adolescents With Neurofibromatosis Type I: A Comprehensive Scoping Review

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, Volume 201, Issue 4, Page 257-269, June 2026.
ABSTRACT A comprehensive synthesis of the broad range of neurodevelopmental and psychiatric manifestations in NF1 is needed to identify knowledge gaps and future directions for NF1 research. In the following scoping review, we identify and summarize the scope of research that examines neurodevelopmental and psychiatric manifestations, both as ...
Meera Chopra, Tin‐Suet Joan Lee, Jacob Vorstman, Patricia Parkin, Louise Gallagher, Aneta Krakowski   +5 more
wiley   +1 more source

Neurofibromin is enriched in the endoplasmic reticulum of CNS neurons [PDF]

The Journal of Neuroscience, 1993
NF1 patients display CNS abnormalities including learning disabilities, clumsiness, astrocytomas, and abnormalities on magnetic resonance imaging exams. To determine whether the cellular and neuroanatomical distribution of neurofibromin reveals possible function for neurofibromin in the brain, we stained rat brain tissue sections with anti ...
M, Nordlund, X, Gu, M T, Shipley, N, Ratner   +3 more
openaire   +2 more sources

Estrogen activation of microglia underlies the sexually dimorphic differences in Nf1 optic glioma-induced retinal pathology [PDF]

, 2016
Children with neurofibromatosis type 1 (NF1) develop low-grade brain tumors throughout the optic pathway. Nearly 50% of children with optic pathway gliomas (OPGs) experience visual impairment, and few regain their vision after chemotherapy.
Anne C. Solga, Arnold, Avery, Azevedo, Bajenaru, Bondesson, Compton, Daginakatte, Daginakatte, David H. Gutmann, Dennis, Diggs-Andrews, Diggs-Andrews, Fisher, Fisher, Green, Gu, Guadagno, Hegedus, Hyman, Joseph A. Toonen, Kalin-Hajdu, Kappeler, Kuiper, Listernick, Listernick, Neher, Parrilla-Reverter, Revankar, Saijo, Schneider, Simmons, Solga, Tapia-Gonzalez, Tikka, Wu, Yu Ma, Zhao   +37 more
core   +2 more sources