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WWC proteins-mediated compensatory mechanism restricts schwannomatosis driven by loss of function.
Sci Adv
January 2025
Institute of Pediatrics, Children's Hospital of Fudan University, and Shanghai Key Laboratory of Medical Epigenetics, International Co-laboratory of Medical Epigenetics and Metabolism, State Key Laboratory of Genetic Engineering, Institutes of Biomedical Sciences, Shanghai Medical College, Fudan University, Shanghai, China.
NF2-related schwannomatosis, previously known as neurofibromatosis type 2, is a genetic disorder characterized by nerve tumors due to gene mutations. Mice with deletion develop schwannomas slowly with low penetrance, hence inconvenient for preclinical studies. Here, we show that NF2, by recruiting E3 ubiquitin ligases β-TrCP1/2, promotes WWC1-3 ubiquitination and degradation.
View Article and Find Full Text PDFOptimal Delivery of Pain Management in Schwannomatosis: A Literature Review.
Ther Clin Risk Manag
January 2025
Department of Neurosurgery, Keio University School of Medicine, Tokyo, Japan.
Non-NF2 schwannomatosis is a rare syndrome characterized by multiple benign schwannomas that primarily affect nerve sheaths, with chronic, treatment-resistant pain as the most common symptom. No protocol has been established for pain management, and pharmacotherapies, including molecular target therapies, are being evaluated. Neuromodulation therapies such as scrambler therapy and surgical options are also employed; however, surgery may lead to persistent or recurrent pain caused by nerve damage or tumor recurrence.
View Article and Find Full Text PDFComparison of 1D and 3D volume measurement techniques in NF2-associated vestibular schwannoma monitoring.
Sci Rep
January 2025
Department of Neurosurgery, University Hospital Tübingen, Tübingen, Germany.
To compare 1D (linear) tumor volume calculations and classification systems with 3D-segmented volumetric analysis (SVA), focusing specifically on their effectiveness in the evaluation and management of NF2-associated vestibular schwannomas (VS). VS were clinically followed every 6 months with cranial, thin-sliced (< 3 mm) MRI. We retrospectively reviewed and used T1-weighted post-contrast enhanced (gadolinium) images for both SVA and linear measurements.
View Article and Find Full Text PDFRole of Mutation in the Development of Eleven Different Cancers.
Cancers (Basel)
December 2024
Department of Neurosurgery, Baylor College of Medicine, Houston, TX 77030, USA.
: With the rise in prevalence of diagnostic genetic techniques like RNA sequencing and whole exome sequencing (WES), as well as biological treatment regiments for cancer therapy, several genes have been implicated in carcinogenesis. This review aims to update our understanding of the Neurofibromatosis 2 (NF2) gene and its role in the pathogenesis of various cancers. : A comprehensive search of five online databases yielded 43 studies that highlighted the effect of sporadic NF2 mutations on several cancers, including sporadic meningioma, ependymoma, schwannoma, mesothelioma, breast cancer, hepatocellular carcinoma, prostate cancer, glioblastoma, thyroid cancer, and melanoma.
View Article and Find Full Text PDFModeling Malignant Mesothelioma in Genetically Engineered Mice.
Curr Protoc
January 2025
Cancer Prevention and Control Program, Fox Chase Cancer Center, Philadelphia, Pennsylvania.
Mesothelioma is a lethal cancer of the serosal lining of the body cavities. Risk factors include environmental and genetic factors. Asbestos exposure is considered the principal environmental risk factor, but other carcinogenic mineral fibers, such as erionite, also have a causal role.
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