CRMP2–Neurofibromin Interface Drives NF1-related Pain
Sign Up to like & getrecommendations! Published in 2018 at "Neuroscience"
DOI: 10.1016/j.neuroscience.2018.04.002
Abstract: An understudied symptom of the genetic disorder Neurofibromatosis type 1 (NF1) is chronic idiopathic pain. We used targeted editing of Nf1 in rats to provide direct evidence of a causal relationship between neurofibromin, the protein… read more here.
Keywords: crmp2 neurofibromin; nf1 related; crmp2; neurofibromin interface ... See more keywords
NF1-Related MicroRNA Gene Polymorphisms and the Susceptibility to Soft Tissue Sarcomas: A Case-Control Study.
Sign Up to like & getrecommendations! Published in 2023 at "DNA and cell biology"
DOI: 10.1089/dna.2022.0552
Abstract: Soft tissue sarcomas (STS) are rare malignant tumors of mesenchymal origin, which are easy to metastasize and relapse and are a great threat to human health. In our previous study, the abnormal expression of neurofibromin… read more here.
Keywords: risk sts; nf1 related; gene; study ... See more keywords
Somatic Double Inactivation of NF1 Associated with NF1-Related Pectus Excavatum Deformity
Sign Up to like & getrecommendations! Published in 2023 at "Human Mutation"
DOI: 10.1155/2023/3160653
Abstract: Neurofibromatosis type 1 (NF1) is a neurocutaneous genetic disorder with a broad spectrum of associated signs and symptoms, including skeletal anomalies. The association of NF1 with anterior chest wall deformities has been recently reported, especially… read more here.
Keywords: somatic double; deformity; double inactivation; nf1 related ... See more keywords
Seizures in children with neurofibromatosis type 1: is neurofibromatosis type 1 enough?
Sign Up to like & getrecommendations! Published in 2018 at "Italian Journal of Pediatrics"
DOI: 10.1186/s13052-018-0477-x
Abstract: BackgroundNeurofibromatosis type 1 (NF1) is related to a generally increased prevalence of seizures. The mechanism underlying the increased predisposition to seizures has not been fully elucidated. The aim of the study was to evaluate the… read more here.
Keywords: type; nf1 related; structural seizures; neurofibromatosis type ... See more keywords
Selection of internal references for RT-qPCR assays in Neurofibromatosis type 1 (NF1) related Schwann cell lines
Sign Up to like & getrecommendations! Published in 2021 at "PLoS ONE"
DOI: 10.1371/journal.pone.0241821
Abstract: Real-time quantitative PCR (RT-qPCR) has been widely applied in uncovering disease mechanisms and screening potential biomarkers. Internal reference gene selection determines the accuracy and reproducibility of data analyses. The aim of this study was to… read more here.
Keywords: nf1 related; cell lines; reference; schwann cell ... See more keywords
Inhibition of YAP Sensitizes the Selumetinib Treatment for Neurofibromatosis Type 1 Related Plexiform Neurofibroma
Sign Up to like & getrecommendations! Published in 2023 at "International Journal of Medical Sciences"
DOI: 10.7150/ijms.78386
Abstract: Background: Targeted therapy of Neurofibromatosis type 1 (NF1) related plexiform neurofibroma (pNF) aiming at MEK molecule has not demonstrated a convincing result for complete disease inhibition, probably due to other signal pathways crosstalk. Our previous… read more here.
Keywords: selumetinib treatment; neurofibromatosis type; related pnf; nf1 related ... See more keywords