Results 61 to 70 of about 1,568 (176)

Tonic signaling of the B‐cell antigen‐specific receptor is a common functional hallmark in chronic lymphocytic leukemia cell phosphoproteomes at early disease stages

open access: yesMolecular Oncology, Volume 19, Issue 12, Page 3706-3728, December 2025.
B‐cell chronic lymphocytic leukemia (B‐CLL) and monoclonal B‐cell lymphocytosis (MBL) show altered proteomes and phosphoproteomes, analyzed using mass spectrometry, protein microarrays, and western blotting. Identifying 2970 proteins and 316 phosphoproteins, including 55 novel phosphopeptides, we reveal BCR and NF‐kβ/STAT3 signaling in disease ...
Paula Díez   +17 more
wiley   +1 more source

Risk prediction of pulmonary tuberculosis using genetic and conventional risk factors in adult Korean population. [PDF]

open access: yesPLoS ONE, 2017
A complex interplay among host, pathogen, and environmental factors is believed to contribute to the risk of developing pulmonary tuberculosis (PTB). The lack of replication of published genome-wide association study (GWAS) findings limits the clinical ...
Eun Pyo Hong   +3 more
doaj   +1 more source

Autosomal Recessive Cerebellar Ataxias: Translating Genes to Therapies

open access: yesAnnals of Neurology, Volume 98, Issue 3, Page 448-470, September 2025.
[Color figure can be viewed at www.annalsofneurology.org] Autosomal recessive cerebellar ataxias are disabling neurodegenerative genetic conditions affecting balance and coordination. Advancements in genomic testing have improved diagnosis, leading to a new focus on the development of targeted precision therapeutics addressing cellular, biochemical ...
Brent L. Fogel   +10 more
wiley   +1 more source

Distribution of Exonic Variants in Glycogen Synthesis and Catabolism Genes in Late Onset Pompe Disease (LOPD)

open access: yesCurrent Issues in Molecular Biology, 2023
Pompe disease (PD) is a monogenic autosomal recessive disorder caused by biallelic pathogenic variants of the GAA gene encoding lysosomal alpha-glucosidase; its loss causes glycogen storage in lysosomes, mainly in the muscular tissue.
Paola De Filippi   +31 more
doaj   +1 more source

Expanding the Spectrum of Canine Diffuse Large B‐Cell Lymphoma Genetic Aberrations Through Whole Genome Sequencing Analysis

open access: yesVeterinary and Comparative Oncology, Volume 23, Issue 3, Page 346-357, September 2025.
ABSTRACT Diffuse large B‐cell lymphoma (DLBCL) is one of the most prevalent haematological malignancies in both humans and dogs, characterised in both species by significant clinical heterogeneity and limited prognostic predictability. With the introduction of next‐generation sequencing (NGS) technologies in veterinary medicine over the past decade ...
Antonella Fanelli   +4 more
wiley   +1 more source

Engineering a Human‐Sized Common Bile Duct Prototype with Regenerative Potential: In Vitro Evaluation of Mechanics, Function, Degradation, and Immune Modulation

open access: yesAdvanced Healthcare Materials, Volume 14, Issue 21, August 19, 2025.
This study presents a multiphasic bile duct construct composed of biocompatible materials and cells, featuring an inner layer that supports biliary epithelium growth, a middle layer providing mechanical strength, and an outer cell‐permissive layer designed to support future in vivo integration.
Mattia Pasqua   +9 more
wiley   +1 more source

Genome-Environmental Risk Assessment of Cocaine Dependence

open access: yesFrontiers in Genetics, 2012
Cocaine-associated biomedical and psychosocial problems are substantial 21st century global burdens of disease. This burden is largely driven by a cocaine dependence process that becomes engaged with increasing occasions of cocaine product use.
Changshuai eWei   +2 more
doaj   +1 more source

A comparison of human skeletal muscle cell maturation in 2D versus 3D culture: A quantitative proteomic study

open access: yesPhysiological Reports, Volume 13, Issue 12, June 2025.
Abstract Compared with 2D monolayers, 3D models more closely mimic native muscle tissue and allow functional measurements. A more complete understanding of how culture conditions and duration affect myotube maturity/function is crucial for validating the transition to 3D systems.
Benjamin R. Tollitt   +5 more
wiley   +1 more source

Skeletal muscle effects of antisense oligonucleotides targeting glycogen synthase 1 in a mouse model of Pompe disease

open access: yesClinical and Translational Medicine, Volume 15, Issue 4, April 2025.
Antisense oligonucleotide (ASO) treatment in a mouse model of Pompe disease achieves robust knockdown of glycogen synthase (GYS1). ASO treatment reduces glycogen content in skeletal muscle. Combination of ASO and enzyme replacement therapy (ERT) further improves motor performance compared to ASO alone in a mouse model of Pompe disease.
Lan Weiss   +18 more
wiley   +1 more source

Genome scan reveals several loci associated with torus palatinus

open access: yesOrthodontics &Craniofacial Research, Volume 28, Issue 1, Page 159-165, February 2025.
Abstract Objective Torus Palatinus (TP) is a common trait with an unclear aetiology. Although prior studies suggest a hereditary component, the genetic factors that influence TP risk remain unknown. The purpose of this study is to identify genetic variants associated with TP.
Myoung Keun Lee   +14 more
wiley   +1 more source

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