Results 131 to 140 of about 163,448 (315)

Mutation type‐specific transcriptomic signatures and readthrough therapy rescue in SMC1A‐related developmental and epileptic encephalopathy

open access: yesEpilepsia, EarlyView.
Abstract Objective This study was undertaken to investigate the molecular consequences of pathogenic variants in the SMC1A gene—particularly those associated with developmental and epileptic encephalopathy (DEE85)—and to evaluate the therapeutic potential of ataluren in restoring SMC1A function and mitigating disease‐related transcriptomic and genomic ...
Maddalena Di Nardo   +7 more
wiley   +1 more source

Angiotensin II Dose-Dependently Stimulates Human Renal Proximal Tubule Transport by the Nitric Oxide/Guanosine 3′,5′-Cyclic Monophosphate Pathway

open access: green, 2014
Ayumi Shirai   +14 more
openalex   +2 more sources

Cardiac remodeling and arrhythmia in a mouse model of Depdc5 haploinsufficiency

open access: yesEpilepsia, EarlyView.
Abstract Objective Some ion channel genes linked to developmental and epileptic encephalopathy (DEE) are also linked to cardiac arrhythmia, leading to the hypothesis that predisposition to cardiac arrhythmias may contribute to the complex disease presentation of DEE and possibly to the mechanism of sudden unexpected death in epilepsy.
Roberto Ramos‐Mondragon   +9 more
wiley   +1 more source

Synthesis of a self-assembled copper(ii) metallo-rectangle with a guanosine-substituted terpyridine

open access: hybrid, 2013
Sushobhan Ghosh   +4 more
openalex   +2 more sources

Tumor‐Mimic Artificial Cell Integrated With In Situ Synthetic Biology for Testing of Antitumor Drug Sensitivity

open access: yesExploration, EarlyView.
A biomimetic artificial cell model platform integrating in situ synthetic biology is developed, which can show antitumor drug response to simulated cells derived from cell membranes of different tumor cells. It has excellent performance in indicating the curative effect of drugs at the cellular level and provides a novel approach for enhancing the ...
Chaoyang Guan   +9 more
wiley   +1 more source

Antidepressant-like effect of guanosine involves activation of AMPA receptor and BDNF/TrkB signaling

open access: green, 2021
Priscila B. Rosa   +14 more
openalex   +2 more sources

Donkwa Enriched With Goron‐Tula (Azanza garckeana) Modulates Sexual Behavior and Activity of Enzymes Linked With Erectile Dysfunction in High‐Fat Diets/ Streptozotocin‐Induced (STZ/HFD) Diabetic Rats

open access: yesFood Chemistry International, EarlyView.
(A) Mount number, (B) mount latency, (C) intromission number, and (D) intromission latency are the parameters of sexual behavior. Met = metformin. D100 = 100 Donkwa. D90G10 = 90% Donkwa + 10% Goron‐Tula. D85G15 = 85% Donkwa + 15% Goron‐Tula. D80G20 = 80% Donkwa + 20% Goron‐Tula. The mean ± standard error of the mean (SEM) expressed the results. *Values
O. T. Mamukuyomi   +2 more
wiley   +1 more source

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