Exome sequencing identifies novel genes associated with cerebellar volume and microstructure.

Proteins encoded by exons are critical for cellular functions, and mutations in these genes often result in significant phenotypic effects. The cerebellum is linked to various heritable human disease phenotypes, yet genome-wide association studies have struggled to capture the effects of rare variants on cerebellar traits. This study conducts a large-scale exome association analysis using data from approximately 35,000 UK Biobank participants, examining seven cerebellar traits, including total cerebellar volume and white matter microstructure.

E3 ubiquitin ligase CHIP facilitates cAMP and cGMP signalling cross-talk by polyubiquitinating PDE9A.

The carboxyl terminus of Hsc70-interacting protein (CHIP) is pivotal for managing misfolded and aggregated proteins via chaperone networks and degradation pathways. In a preclinical rodent model of CHIP-related ataxia, we observed that CHIP mutations lead to increased levels of phosphodiesterase 9A (PDE9A), whose role in this context remains poorly understood. Here, we investigated the molecular mechanisms underlying the role of PDE9A in CHIP-related ataxia and demonstrated that CHIP binds to PDE9A, facilitating its polyubiquitination and autophagic degradation.

Digital biomarkers for precision diagnosis and monitoring in Parkinson's disease.

Parkinson's disease (PD) is a multifactorial neurodegenerative disorder with high prevalence among the elderly, primarily manifested by progressive decline in motor function. The aging global demographic and increased life expectancy have led to a rapid surge in PD cases, imposing a significant societal burden. PD along with other neurodegenerative diseases has garnered increasing attention from the scientific community.

Crystallization-Driven Controlled 2D Self-Assemblies via Aqueous RAFT Emulsion Polymerization.

Aqueous emulsion polymerization is a robust technique for preparing nanoparticles of block copolymers; however, it typically yields spherical nanoassemblies. The scale preparation of nanoassemblies with nonspherical high-order morphologies is a challenge, particularly 2D core-shell nanosheets. In this study, the polymerization-induced self-assembly (PISA) and crystallization-driven self-assembly (CDSA) are combined to demonstrate the preparation of 2D nanosheets and their aggregates via aqueous reversible addition-fragmentation chain transfer (RAFT) emulsion polymerization.

Shuyu decoction exhibits anti-fatigue properties via alleviating exercise-induced immune dysfunction.

Ethnopharmacological Relevance: Shuyu decoction (SYD), an effective traditional Chinese medicine (TCM), has been widely used for treating deficiency-related diseases for thousands of years. Meanwhile, exercise-induced fatigue (EF), a common physiological phenomenon observed in physical training, has been treated as a deficient condition in TCM for decades. Currently, not many studies have been conducted on the effect of SYD on EF and little is known about its underlying pharmacological mechanism.

Clinico-pathological features of diabetic and non-diabetic renal diseases in type 2 diabetic patients: a retrospective study from a 10-year experience in a single center.

Aim: To compare clinical and pathological characteristics as well as prognosis between diabetic nephropathy (DN) and non-diabetic renal disease (NDRD) so as to explore potential diagnostic criteria of DN and provide some guidance for the treatment of type 2 diabetes mellitus (T2DM) patients with kidney involvement.

Methods: T2DM patients with renal impairment who underwent kidney biopsy were included in this study, who were classified into 3 groups (DN, NDRD, DN with NDRD) based on their renal pathological diagnosis. Baseline clinical characteristics as well as follow-up data were collected and analyzed among 3 groups.

A multi-target protective effect of Danggui-Shaoyao-San on the vascular endothelium of atherosclerotic mice.

Background: Atherosclerosis (AS) is a chronic disease characterized by abnormal blood lipid metabolism, inflammation and vascular endothelial injury. Vascular endothelial injury is the initial stage during the occurrence of AS. However, the function and mechanism of anti-AS are not well characterized.

Analysis of glomerular PLA2R efficacy in evaluating the prognosis of idiopathic membranous nephropathy in the background of different serum anti-PLA2R levels.

Objective: To verify glomerular PLA2R antigen and serum PLA2R antibody expression in membranous nephropathy as well as to explore glomerular PLA2R efficacy in evaluating the prognosis of idiopathic membranous nephropathy (IMN) in the background of different serum anti-PLA2R levels.

Methods: We retrospectively analyzed 155 patients who were diagnosed with IMN by kidney biopsy. Patients were divided into six groups according to their serum PLA2R antibody or glomerular PLA2R antigen positiveness and the level of serum anti-PLA2R titer.

Natural Language Processing Algorithms for Normalizing Expressions of Synonymous Symptoms in Traditional Chinese Medicine.

Background: The modernization of traditional Chinese medicine (TCM) demands systematic data mining using medical records. However, this process is hindered by the fact that many TCM symptoms have the same meaning but different literal expressions (i.e.