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Article
Open AccessSuccessful skip** of abnormal pseudoexon by antisense oligonucleotides in vitro for a patient with beta-propeller protein-associated neurodegeneration
Pathogenic variants in WDR45 on chromosome Xp11 cause neurodegenerative disorder beta-propeller protein-associated neurodegeneration (BPAN). Currently, there is no effective therapy for BPAN. Here we report a 17-...
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Article
Open AccessPDIVAS: Pathogenicity predictor for Deep-Intronic Variants causing Aberrant Splicing
Deep-intronic variants that alter RNA splicing were ineffectively evaluated in the search for the cause of genetic diseases. Determination of such pathogenic variants from a vast number of deep-intronic varian...
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Article
Open AccessCross-ancestry genome-wide analysis of atrial fibrillation unveils disease biology and enables cardioembolic risk prediction
Atrial fibrillation (AF) is a common cardiac arrhythmia resulting in increased risk of stroke. Despite highly heritable etiology, our understanding of the genetic architecture of AF remains incomplete. Here we...
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Article
Open AccessDeep learning-based age estimation from chest X-rays indicates cardiovascular prognosis
In recent years, there has been considerable research on the use of artificial intelligence to estimate age and disease status from medical images. However, age estimation from chest X-ray (CXR) images has not...
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Article
Open AccessImpact of spaceflight and artificial gravity on sulfur metabolism in mouse liver: sulfur metabolomic and transcriptomic analysis
Spaceflight induces hepatic damage, partially owing to oxidative stress caused by the space environment such as microgravity and space radiation. We examined the roles of anti-oxidative sulfur-containing compo...
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Article
Open AccessAuthor Correction: Therapeutic manipulation of IKBKAP mis-splicing with a small molecule to cure familial dysautonomia
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Article
Open AccessTherapeutic manipulation of IKBKAP mis-splicing with a small molecule to cure familial dysautonomia
Approximately half of genetic disease-associated mutations cause aberrant splicing. However, a widely applicable therapeutic strategy to splicing diseases is yet to be developed. Here, we analyze the mechanism...
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Article
Study on the Effect of Melt Convection on Phase Separation Structures in Undercooled CuCo Alloys Using an Electromagnetic Levitator Superimposed with a Static Magnetic Field
We studied the effect of melt convection on phase separation structures in undercooled Cu80Co20 alloys by using an electromagnetic levitator, where a static magnetic field was applied to control convection in the...
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Article
Synthesis of ferromagnetic nickel ferrite nanofibers via electrospinning with iron acetate as an iron precursor
We report the synthesis of nickel ferrite nanofibers via an elecrospinning technique particularly using iron (II) acetate as an iron precursor. Nanofibers of a single-phase nickel ferrite with a uniform diamet...
