Results 31 to 40 of about 34,560 (199)
From omics to AI—mapping the pathogenic pathways in type 2 diabetes
Integrating multi‐omics data with AI‐based modelling (unsupervised and supervised machine learning) identify optimal patient clusters, informing AI‐driven accurate risk stratification. Digital twins simulate individual trajectories in real time, guiding precision medicine by matching patients to targeted therapies.
Siobhán O'Sullivan+2 more
wiley +1 more source
Spinal muscular atrophy (SMA) is a genetic disease affecting motor neurons. Individuals with SMA experience mitochondrial dysfunction and oxidative stress. The aim of the study was to investigate the effect of an antioxidant and neuroprotective substance, ergothioneine (ERGO), on an SMNΔ7 mouse model of SMA.
Francesca Cadile+8 more
wiley +1 more source
Landscape of BRAF transcript variants in human cancer
We investigate the annotation of BRAF variants, focusing on protein‐coding BRAF‐220 (formerly BRAF‐reference) and BRAF‐204 (BRAF‐X1). The IsoWorm pipeline allows us to quantify these variants in human cancer, starting from RNA‐sequencing data. BRAF‐204 is more abundant than BRAF‐220 and impacts patient survival.
Maurizio S. Podda+5 more
wiley +1 more source
Advancements in molecular biology have revolutionized our understanding of complex diseases, with Alzheimer’s disease being a prime example. Single-cell sequencing, currently the most suitable technology, facilitates profoundly detailed disease analysis ...
Marios G. Krokidis+5 more
doaj +1 more source
Raphin‐1 reduces the survival of PED‐DHGG cells and enhances their radiation sensitivity through both PeIF2α‐dependent and PeIF2α‐independent mechanisms. Raphin‐1 sustains elevated levels of PeIF2α, contributing to its PeIF2α‐dependent effects. Additionally, raphin‐1 interacts with CReP to mediate a separate radiosensitizing pathway that operates ...
Karin Eytan+4 more
wiley +1 more source
The K+‐Cl− cotransporters (KCCs) facilitate the symport of ions across the plasma membrane. They participate in physiological processes including neuronal regulation. Here, we characterized KCCs from Drosophila and Hydra vulgaris. Comparative analyses of transporters provide insights into the mechanism of KCC ion transport, regulation, and evolution ...
Satoshi Fudo+4 more
wiley +1 more source
Glial Fibrillary Acidic Protein Astrocytopathy Based on a Two‐Center Chinese Cohort Study
ABSTRACT Objective Glial fibrillary acidic protein astrocytopathy (GFAP‐A) is a recently defined nosological form belonging to the class of autoimmune inflammatory disorders affecting the central nervous system (CNS). Here, we report the clinical and MRI characteristics, treatment, and prognosis of a GFAP‐A cohort from two centers in China.
Ti Wu+13 more
wiley +1 more source
CircRNAs in Tumor Radioresistance
Circular RNAs (circRNAs) are endogenous, non-coding RNAs, which are derived from host genes that are present in several species and can be involved in the progression of various diseases. circRNAs’ leading role is to act as RNA sponges.
Yining Gao+7 more
doaj +1 more source
Repeat Expansions in PLIN4 Cause Autosomal Dominant Vacuolar Myopathy With Sarcolemmal Features
ABSTRACT Objective We aim to describe and characterize two unrelated Spanish families suffering from an autosomal dominant autophagic vacuolar myopathy caused by repeat expansions in PLIN4. Methods We evaluated the clinical phenotype and muscle imaging, and performed a genetic workup that included exome sequencing, muscle RNAseq, and long‐read genome ...
Laura Llansó+17 more
wiley +1 more source
Targeting RAGE with Nanobodies for Molecular Imaging of Cancers and Alzheimer's Disease
RAGE‐specific nanobodies were isolated via phage display and characterized by ELISA, cell ELISA, and SPR. In vivo imaging in renal carcinoma and Alzheimer's disease mouse models demonstrated that NbF8, the highest‐affinity clone, selectively targeted RAGE‐overexpressing tumors and brain tissues, highlighting its potential as a molecular imaging agent ...
Guangfeng Liang+13 more
wiley +1 more source