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Genetic Diversity and Expanded Phenotypes in Dystonia: Insights from Large-Scale Exome Sequencing.
medRxiv
December 2024
Institute of Neurogenetics, University of Lübeck, 23538 Lübeck, Germany.
Article Synopsis
- Dystonia is a common movement disorder with a complex genetic background, showing significant variability in its clinical presentation and genetics.
- The study involved exome sequencing of nearly 1,924 patients, mainly from two major registries, focusing on those with genetic prescreening negative results and early age at onset.
- Researchers discovered 137 likely pathogenic variants in 51 genes among the patients, with many being novel, highlighting the challenges in diagnosing and understanding the disorder's genetic links.
An integrative analysis based on multiple cell death patterns identifies an immunosuppressive subtype and establishes a prognostic signature in lower-grade glioma.
Ann Med
December 2024
Department of Traditional Chinese Medicine, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Background: Cell death modulates the biological behaviors of tumors. However, the comprehensive role of the multiple forms of cell death in lower-grade glioma (LGG) is unknown.
Methods: We collected the transcriptional data of LGG patients from public repositories to comprehensively examine six cell death patterns (autophagy, apoptosis, cuproptosis, necroptosis, ferroptosis, and pyroptosis) in LGG samples and systematically correlated these patterns with patient survival, underlying biological processes, and drug sensitivity using serial bioinformatics analysis, clinical sample validation and assays.
Article Synopsis
- Loss-of-function mutations in a specific gene linked to dystonia reveal similarities to idiopathic dystonia, highlighting the gene's role in regulating cAMP levels in the striatum, a brain region critical for movement.
- Researchers developed a genetic mouse model to study the effects of knocking out this gene in a targeted manner, observing significant motor impairments and dystonic behaviors in these mice.
- The findings indicate that the loss of this gene increases the excitability of certain neurons, suggesting that reducing this hyperexcitability could lead to potential treatments for both genetic and idiopathic forms of dystonia.
A novel GNAL pathogenic variant leading to generalized dystonia: Immediate and sustained response to globus pallidus internus deep brain stimulation.
Parkinsonism Relat Disord
October 2023
Parkinson and Movement Disorders Unit, Department of Clinical Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Autoantibodies involved in primary and secondary adrenal insufficiency following treatment with immune checkpoint inhibitors.
Immunooncol Technol
March 2023
Department of Medical Oncology, Netherlands Cancer Institute, Amsterdam.
Article Synopsis
- Primary and secondary adrenal insufficiency (AI) can occur as immune-related side effects from immune checkpoint inhibitors (ICIs), making it crucial to identify at-risk patients for better safety management.
- * Recent studies have focused on finding new biomarkers, particularly autoantibodies, that may indicate susceptibility to ICI-induced AI through T-cell activation of autoreactive B cells.
- * The review discusses various autoantibodies linked to primary and secondary AI and suggests that standardized testing for these autoantibodies could help in identifying patients at risk, ultimately improving the treatment and management of ICI-induced AI.
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