ABSTRACT C‐truncating variants in the charged multivesicular body protein 2B (CHMP2B) gene are a rare cause of frontotemporal lobar degeneration (FTLD), previously identified only in Denmark, Belgium, and China. We report a novel CHMP2B splice‐site variant (c.35‐1G>A) associated with familial FTLD in Spain. The cases were two monozygotic male twins who
Sara Rubio‐Guerra+17 more
wiley +1 more source
HAMA-SBMA hydrogel with anti-inflammatory properties delivers cartilage organoids, boosting cartilage regeneration. [PDF]
Gao Y+12 more
europepmc +1 more source
Correspondence of MRI and nTMS With EDSS in Multiple Sclerosis: Longitudinal Follow‐Up Study
ABSTRACT Objectives Considering the characteristics of multiple sclerosis (MS) disease and its impact on motor disability, this study aims to assess the functional integrity of the corticospinal tract by examining motor evoked potentials (MEPs), Expanded Disability Status Scale (EDSS) scores, magnetic resonance imaging (MRI) lesion counts, and ...
Antonia Bralić+13 more
wiley +1 more source
Yoda1-Loaded Microfibrous Scaffolds Accelerate Osteogenesis through Piezo1-F-Actin Pathway-Mediated YAP Nuclear Localization and Functionalization. [PDF]
Liu J+11 more
europepmc +1 more source
Probiotic biofilm modified bioceramics for bone defect healing via osteogenesis, angiogenesis, and immune modulation. [PDF]
Su J+6 more
europepmc +1 more source
CNS Mitochondria‐Derived Vesicle in Blood: Potential Biomarkers for Brain Mitochondria Dysfunction
ABSTRACT Objective Mitochondrial dysfunction is a hallmark of neurodegenerative diseases like Alzheimer's (AD) and Parkinson's (PD). Our goal was to develop practical, noninvasive methods to assess mitochondrial status through the detection of mitochondria‐derived vesicles (MDVs).
Qi Liu+12 more
wiley +1 more source
Novel microsatellite instability test of sebaceous tumours to facilitate low-cost universal screening for Lynch syndrome. [PDF]
Gallon R+10 more
europepmc +1 more source
Outer membrane vesicles of Porphyromonas gingivalis impede bone regeneration by inducing ferroptosis via the Hippo-YAP signaling pathway. [PDF]
Luo X+10 more
europepmc +1 more source
Glycosylation Gene Signatures as Prognostic Biomarkers in Glioblastoma
ABSTRACT Objective Glioblastoma (GBM) is an aggressive brain tumor characterized by significant heterogeneity. This study investigates the role of glycosylation‐related genes in GBM subtyping, prognosis, and response to therapy. Methods We analyzed mRNA expression data and clinical information from The Cancer Genome Atlas (TCGA) and Gene Expression ...
Tong Zhao+4 more
wiley +1 more source
Traumatic brain injury and autophagy: a pilot study about the immunohistochemical expression of LC3B, Beclin 1, p62, and LAMP2A in human autoptic samples. [PDF]
Livieri T+8 more
europepmc +1 more source