Results 41 to 50 of about 21,804 (172)
Atlas of Genetics and Cytogenetics in Oncology and Haematology, 2010 Review on NF1 (neurofibromin 1), with data on DNA, on the protein encoded, and where the gene is implicated.
openaire +2 more sources
A Conserved Circadian Function for the Neurofibromatosis 1 Gene
Cell Reports, 2018 Summary: Loss of the Neurofibromatosis 1 (Nf1) protein, neurofibromin, in Drosophila disrupts circadian rhythms of locomotor activity without impairing central clock function, suggesting effects downstream of the clock.
Lei Bai +10 more
doaj +1 more source
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 +3 more
wiley +1 more source
Atlas of Genetics and Cytogenetics in Oncology and Haematology, 2011 Review on NF1 (neurofibromin 1), with data on DNA, on the protein encoded, and where the gene is implicated.
openaire +1 more source
Neurofibromin Is the Major Ras Inactivator in Dendritic Spines [PDF]
The Journal of Neuroscience, 2014 In dendritic spines, Ras plays a critical role in synaptic plasticity but its regulation mechanism is not fully understood. Here, using a fluorescence resonance energy transfer/fluorescence lifetime imaging microscopy-based Ras imaging technique in combination with 2-photon glutamate uncaging, we show that neurofibromin, in which loss-of-function ...
Oliveira, A., Yasuda, R.
openaire +3 more sources
Von recklinghausen disease: one patient – various problems
Balkan Journal of Medical Genetics, 2016 von Recklinghausen disease (vRD), more widely known as neurofibromatosis type 1, belongs to a group of genetic disorders and it is considered to be the most common genodermatosis. The disease has an autosomal dominant pattern of inheritance that involves
Bergler-Czop B +2 more
doaj +1 more source
Metal‐dependent regulated cell death: Molecular architecture and translational frontiers
iMeta, EarlyView.Intracellular metal dyshomeostasis orchestrates distinct regulated cell death programs, including iron‐driven ferroptosis, copper‐mediated cuproptosis, calcicoptosis, newly designated zincoptosis, mnoptosis, and coptosis. This review systematically delineates their molecular architectures—spanning from Sorafenib‐induced lipid peroxidation and ...
Haoliang Hu +20 more
wiley +1 more source
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
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