Results 41 to 50 of about 22,402 (163)
Cell Communication and Signaling, 2021 Background Loss of the Ras GTPase-activating protein neurofibromin promotes nervous system tumor pathogenesis in patients with neurofibromatosis type 1 (NF1).
Shannon M. Weber +7 more
doaj +1 more source
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 +6 more
wiley +1 more source
A COMPREHENSIVE APPROACH TO THE STUDY OF PECULIAR PROPERTIES OF NEUROFIBROMATOSIS TYPE 1
Креативная хирургия и онкология, 2017 Having made a literature review, the writers of the article analyze the data of native and foreign researchers on the study of neurofibromatosis type 1.
R. N. Mustafin +2 more
doaj +1 more source
The WHO Classification of Genetic Tumour Syndromes: Considerations for Genetics
Clinical Genetics, EarlyView.The WHO Classification of Tumours underpins the diagnosis of neoplastic conditions. The new WHO classification of genetic tumour syndromes (GTS) provides international standards for their diagnosis. This diagram highlights the chromosomal distribution of the genes involved in the GTS covered in this classification.
Ian A. Cree +18 more
wiley +1 more source
Selumetinib as a Target Therapy in Progressive Paediatric Low‐Grade Gliomas—Case Series (pLGG)
Journal of Paediatrics and Child Health, EarlyView.ABSTRACT Background Optic pathway gliomas (OPGs) occur in 15%–20% of children with neurofibromatosis type 1 (NF1). While smaller gliomas may be only monitored, the current standard of care for symptomatic ones relies on chemotherapy, most commonly carboplatin and vincristine.
Laura Trapani +12 more
wiley +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 +6 more
wiley +1 more source
, 2003 Individuals with the neurofibromatosis 1 (NF1)-inherited tumor predisposition syndrome develop low-grade astrocytomas. TheNF1tumor suppressor gene product neurofibromin exhibits GTPase-activating activity (GAP) toward RAS, such that loss of neurofibromin
Biplab Dasgupta +2 more
core +1 more source
The 9th International RASopathies Symposium
American Journal of Medical Genetics Part A, Volume 200, Issue 8, Page 1934-1941, August 2026.ABSTRACT The RASopathies are a group of congenital disorders with overlapping clinical manifestations that are caused by pathogenic germline or early somatic variants that result in the hyperactivation of the RAS/mitogen‐activated protein kinase (MAPK) signaling pathway.
Pau Castel +41 more
wiley +1 more source
PharmaceuticsNeurofibromatosis Type 1 (NF1) is a common neurogenic condition characterized by heterozygous loss of function mutations in the neurofibromin gene. NF1 patients are susceptible to the development of neurofibromas, including plexiform neurofibromas (pNFs),
Bashnona Attiah +4 more
doaj +1 more source
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 +5 more
wiley +1 more source