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A novel Q93H missense mutation in DCTN1 caused distal hereditary motor neuropathy type 7B and Perry syndrome from a Chinese family
The Dynactin 1 ( DCTN1 ) encodes the p150 subunit of dynactin, which engages retrograde axonal transport. Missense mutations in DCTN1 have been linked...
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Evaluating the therapeutic potential of ADAR1 inhibition for triple-negative breast cancer
Triple-negative breast cancer (TNBC) is the deadliest form of breast cancer. Unlike other types of breast cancer that can be effectively treated by...
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PolyGA targets the ER stress-adaptive response by impairing GRP75 function at the MAM in C9ORF72-ALS/FTD
ER stress signaling is linked to the pathophysiological and clinical disease manifestations in amyotrophic lateral sclerosis (ALS). Here, we have...
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Detection of arrhythmogenic substrate within QRS complex in patients with cardiac sarcoidosis using wavelet-transformed ECG
Signal-averaged electrocardiography (SAECG) has been known to be useful for prediction of lethal ventricular arrhythmias (VA). However, this...
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Xanomeline restores endogenous nicotinic acetylcholine receptor signaling in mouse prefrontal cortex
Cholinergic synapses in prefrontal cortex are vital for attention, but this modulatory system undergoes substantial pre- and post-synaptic...
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Circulating amino acid levels and colorectal cancer risk in the European Prospective Investigation into Cancer and Nutrition and UK Biobank cohorts
BackgroundAmino acid metabolism is dysregulated in colorectal cancer patients; however, it is not clear whether pre-diagnostic levels of amino acids...
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Dysregulated RNA editing of EIF2AK2 in polycystic ovary syndrome: clinical relevance and functional implications
BackgroundPolycystic ovary syndrome (PCOS) is a prevalent endocrine disorder affecting women of reproductive ages. Our previous study has implicated...
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Pan-cancer analysis of pre-diagnostic blood metabolite concentrations in the European Prospective Investigation into Cancer and Nutrition
BackgroundEpidemiological studies of associations between metabolites and cancer risk have typically focused on specific cancer types separately....
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Early-life stress lastingly impacts microglial transcriptome and function under basal and immune-challenged conditions
Early-life stress (ELS) leads to increased vulnerability to psychiatric disorders including depression later in life. Neuroinflammatory processes...
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ADAR1 polymorphisms contribute to increased susceptibility in pediatric acute lymphoblastic leukemia
Adenosine deaminase acting on RNA1 (ADAR1), catalyzing post-transcriptional adenosine-to-inosine RNA editing, promotes cancer progression and...
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ADARs, RNA editing and more in hematological malignancies
Adenosine-to-inosine (A-to-I) editing is the most prevalent type of RNA editing in humans, mediated by the adenosine deaminases acting on RNA...
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Phylogenetic analysis of congenital rubella virus from Indonesia: a case report
BackgroundRubella is a common inherited infection resulting in congenital cataracts and a significant cause of permanent vision loss in develo**...
