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| http://dx.doi.org/10.1186/s40635-023-00573-9 | DOI Listing |
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Variants in associated with cancer and rare developmental and epileptic encephalopathy.
Front Pediatr
December 2024
Department of Neurobiology, University of Alabama at Birmingham, Birmingham, AL, United States.
RHOBTB2 is a member of the Rho GTPases subfamily of signaling proteins, known tumor suppressors whose loss of function and decreased expression is associated with cancer onset. Beyond its cancer-related role, RHOBTB2 is implicated in rare neurodevelopmental disorders, specifically -related disorders, recognized in 2018 as a subtype of developmental and epileptic encephalopathies (DEE). Common symptoms of these disorders include early-onset epilepsy, severe intellectual disability, microcephaly, and movement disorders.
View Article and Find Full Text PDFSex differences in the relationships between 24-h rest-activity patterns and plasma markers of Alzheimer's disease pathology.
Alzheimers Res Ther
December 2024
Faculty of Health, Medicine and Life Sciences, Mental Health and Neuroscience Research Institute, Alzheimer Centre Limburg, Maastricht University, Maastricht, The Netherlands.
Background: Although separate lines of research indicated a moderating role of sex in both sleep-wake disruption and in the interindividual vulnerability to Alzheimer's disease (AD)-related processes, the quantification of sex differences in the interplay between sleep-wake dysregulation and AD pathology remains critically overlooked. Here, we examined sex-specific associations between circadian rest-activity patterns and AD-related pathophysiological processes across the adult lifespan.
Methods: Ninety-two cognitively unimpaired adults (mean age = 59.
HIF-1α mediates hypertension and vascular remodeling in sleep apnea via hippo-YAP pathway activation.
Mol Med
December 2024
Department of Otorhinolaryngology/Head and Neck, Sir Run Run Shaw Hospital, Zhejiang University School of Medicine, No.3 East Qingchun Road, Hangzhou, 310020, Zhejiang, China.
Background: Sleep apnea syndrome (SAS) is associated with hypertension and vascular remodeling. Hypoxia-inducible factor-1α (HIF-1α) and the Hippo-YAP pathway are implicated in these processes, but their specific roles remain unclear. This study investigated the HIF-1α/Hippo-YAP pathway in SAS-related hypertension.
View Article and Find Full Text PDFExploring the neurobiological correlates of psilocybin-assisted psychotherapy in eating disorders: a review of potential methodologies and implications for the psychedelic study design.
J Eat Disord
December 2024
Centre for Neuroscience Studies, Queen's University, Kingston, ON, Canada.
Eating disorders (EDs) are a group of debilitating mental illnesses characterized by maladaptive eating behaviors and severe cognitive-emotional dysfunction, directly affecting 1-3% of the population. Standard treatments are not effective in approximately one third of ED cases, representing the need for scientific advancement. There is emerging evidence for the safety and efficacy of psilocybin-assisted psychotherapy (PAP) to improve treatment outcomes in individuals with EDs.
View Article and Find Full Text PDFEpicardial adipose tissue: a new link between type 2 diabetes and heart failure-a comprehensive review.
Heart Fail Rev
December 2024
School of Pharmaceutical Sciences, Zhejiang Chinese Medical University, No. 548 Binwen Road, Hangzhou, 310053, China.
Diabetic cardiomyopathy is a unique cardiomyopathy that is common in diabetic patients, and it is also a diabetic complication for which no effective treatment is currently available. Moreover, relevant studies have revealed that a link exists between type 2 diabetes and heart failure and that abnormal thickening of EAT is inextricably linked to the development of diabetic heart failure. Numerous clinical studies have demonstrated that EAT is implicated in the pathophysiologic process of diabetic myocardial disease.
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