Results 51 to 60 of about 132,212 (243)

Single‐Cell Transcriptomic Profiling Identifies B Cell‐Intrinsic Dysregulation of Sphingolipid Biosynthesis and Could Be Improved by Inhibiting UGCG in Primary Immune Thrombocytopenia

open access: yesAdvanced Science, EarlyView.
This study generates the single‐cell atlas of pathogenic B‐cell subset Bc‐5 in ITP. It identifies RUNX3 as a key survival regulator and uncovers sphingolipid‐driven metabolic reprogramming, validating UGCG inhibition as a therapeutic candidate and building a valuable resource for ITP mechanistic and therapeutic exploration.
Dongmei Luo   +10 more
wiley   +1 more source

Exome Sequencing Uncovers Phenotypic and Genotypic Heterogeneity in 196 Indian Families Evaluated for Autoinflammatory Disorders

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autoinflammatory disorders (AIDs) are a clinically heterogeneous group of inborn errors of immunity primarily caused by dysregulation in the innate immune system. Clinical diagnosis is often challenging due to clinical heterogeneity and the overlapping phenotypes with other inborn errors of immunity and monogenic conditions that mimic AIDs ...
Vaishnavi Ashok Badiger   +28 more
wiley   +1 more source

Effect of diabetes/hyperglycemia on the rat retinal adenosinergic system. [PDF]

open access: yesPLoS ONE, 2013
The early stages of diabetic retinopathy (DR) are characterized by alterations similar to neurodegenerative and inflammatory conditions such as increased neural apoptosis, microglial cell activation and amplified production of pro-inflammatory cytokines.
Joana Vindeirinho   +4 more
doaj   +1 more source

Evaluation of the adenosine deaminase (ADA) G22A gene polymorphism with recurrent spontaneous abortion among Egyptian patients

open access: yes, 2017
Introduction : Adenosine and deoxyadenosine metabolism is influenced by adenosine deaminase (ADA) enzyme. ADA increases in different diseases and is considered as one of the markers for cell-mediated immunity.
Khadiga Abu-Gabal   +3 more
core   +1 more source

Adenosine Depletion as A New Strategy to Decrease Glioblastoma Stem-Like Cells Aggressiveness

open access: yesCells, 2019
Glioblastoma is the brain tumor with the worst prognosis. This is mainly due to a cell subpopulation with an extremely aggressive potential, called glioblastoma stem-like cells (GSCs). These cells produce high levels of extracellular adenosine, which are
Ignacio Niechi   +9 more
doaj   +1 more source

Purines as potential morphogens during embryonic development [PDF]

open access: yes, 2012
Components of purinergic signalling are expressed in the early embryo raising the possibility that ATP, ADP and adenosine may contribute to the mechanisms of embryonic development.
Dale, Nicholas   +3 more
core   +1 more source

Thermal Analysis of Adenosine Deaminase in the Presence of Sodium N-Dodecyl Sulphate [PDF]

open access: yesIranian Journal of Chemistry & Chemical Engineering, 1994
The thermal denaturation of adenosine deaminase (ADA) has been investigated in the presence of sodium n-dodecyl sulphate (SDS) over the temperature range of (293-363K) in 2.5 mM phosphate buffer, pH 6.4 by temperature scanning spectroscopy.
Ali Akbar Moosavi Movahedi   +2 more
doaj  

Engineering Biology Beyond Single Genes: Advances and Challenges in Multiplex Genome Editing

open access: yesAnimal Research and One Health, EarlyView.
Multiplex genome editing is transforming genome engineering from single‐gene perturbation to network‐level control, yet its broader application remains limited by challenges in gRNA array engineering, delivery technologies, and safety management. Emerging AI‐driven approaches are accelerating guide RNA design and CRISPR effector optimization for ...
Linli Wang, Yongbin Liu, Hongbing Han
wiley   +1 more source

Deficiency of Adenosine Deaminase 2

open access: yes, 2023
Deficiency of adenosine deaminase 2 (DADA2) is a monogenic vasculitis syndrome caused by biallelic mutations in the adenosine deaminase 2 gene. The diagnosis of DADA2 is confirmed by decreased enzymatic activity of ADA2 and genetic testing.
Grim, Andrew   +5 more
core   +1 more source

Deficiency of adenosine deaminase 2 leading to recurrent Hodgkin lymphoma: A case report

open access: yesSAGE Open Medical Case Reports
Deficiency of adenosine deaminase 2 is a rare monogenic multi-organ disease of children and less often adults resulting from mutations in the adenosine deaminase 2 gene.
Anas Manhal   +7 more
doaj   +1 more source

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