Results 101 to 110 of about 391,496 (277)
Whole‐Body Pattern of Muscle Degeneration and Progression in Sarcoglycanopathies
ABSTRACT Objective To characterize whole‐body intramuscular fat distribution pattern in patients with sarcoglycanopathies and explore correlations with disease severity, duration and age at onset. Methods Retrospective, cross‐sectional, multicentric study enrolling patients with variants in one of the four sarcoglycan genes who underwent whole‐body ...
Laura Costa‐Comellas +39 more
wiley +1 more source
An overview of graph databases and their applications in the biomedical domain. [PDF]
Timón-Reina S +2 more
europepmc +1 more source
Graph databases have become essential tools for managing complex and interconnected data, which is common in areas like social networks, bioinformatics, and recommendation systems. Unlike traditional relational databases, graph databases offer a more natural way to model and query intricate relationships, making them particularly effective for ...
Coimbra, Miguel E. +3 more
openaire +2 more sources
Epigenetic reprogramming in hematopoietic stem and progenitor cells (HSPCs) and downstream myeloid cells, mediated by H3.3 downregulation and endogenous retroelement (ERE) overexpression, contributes to the progression of multiple sclerosis (MS). ABSTRACT Background Skewed myelopoiesis in the bone marrow has been identified as a key driver of multiple ...
Li‐Mei Xiao +6 more
wiley +1 more source
Von Economo Neuron Loss in Frontotemporal Dementia: A Meta‐Analysis of Neuropathological Studies
ABSTRACT Von Economo neurons (VENs) have been reported to be vulnerable to neurodegeneration in frontotemporal dementia (FTD), particularly the behavioral variant (bvFTD), but these findings have not been systematically assessed across independent brain banks.
Daniel Talmasov +2 more
wiley +1 more source
This article introduces a novel hybrid database architecture that combines graph and time-series databases to enhance the storage and management of transportation data, particularly for electric vehicles (EVs).
Marko Šidlovský, Filip Ravas
doaj +1 more source
Advantages of using graph databases to explore chromatin conformation capture experiments. [PDF]
D'Agostino D +3 more
europepmc +1 more source
Towards an Efficient Discovery of the Topological Representative Subgraphs
With the emergence of graph databases, the task of frequent subgraph discovery has been extensively addressed. Although the proposed approaches in the literature have made this task feasible, the number of discovered frequent subgraphs is still very high
Dhifli, Wajdi +3 more
core
A Depolarizing Leak in Sodium Bicarbonate Cotransporter NBCe1 Causes Brain Edema
ABSTRACT Objectives SLC4A4 encodes electrogenic sodium bicarbonate cotransporter NBCe1, prominently expressed in kidney and brain. Recessive loss‐of‐function variants in SLC4A4 cause proximal renal tubular acidosis, no brain edema. In the brain, NBCe1 is expressed by astrocytes, where it regulates pH and mediates astrocyte volume changes.
Quinty Bisseling +16 more
wiley +1 more source
RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu +21 more
wiley +1 more source

