Publications by authors named "Mitani T"

Unlike differentiated somatic cells, which possess elongated mitochondria, undifferentiated cells, such as those of preimplantation embryos, possess round, immature mitochondria. Mitochondrial morphology changes dynamically during cell differentiation in a process called mitochondrial maturation. The significance of the alignment between cell differentiation and mitochondrial maturity in preimplantation development remains unclear.

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Food-derived polyphenols and some alkaloids have reported bioactivities related the prevention of systemic metabolic disorders such as obesity, glucose intolerance, and dyslipidemia. For food-derived components to exert their functions in vivo, it is essential the interaction with biological factors such as proteins, lipids, and nucleic acids. However, it is still unclear whether bioactive components in foods express functions related to their target factors.

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Background: MECP2 Duplication Syndrome, also known as X-linked intellectual developmental disorder Lubs type (MRXSL; MIM: 300260), is a neurodevelopmental disorder caused by copy number gains spanning MECP2. Despite varying genomic rearrangement structures, including duplications and triplications, and a wide range of duplication sizes, no clear correlation exists between DNA rearrangement and clinical features. We had previously demonstrated that up to 38% of MRXSL families are characterized by complex genomic rearrangements (CGRs) of intermediate complexity (2 ≤ copy number variant breakpoints < 5), yet the impact of these genomic structures on regulation of gene expression and phenotypic manifestations have not been investigated.

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Incorporating organic acids into cattle feed should be carefully considered because dietary organic acids may affect voluntary feed intake and rumen fermentation. We conducted a feeding trial for the practical evaluation of grain vinegar. Lactating Holstein cows (n = 19) were divided into two groups, then were subjected to each of two treatments in a crossover design.

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Article Synopsis
  • The study investigates the genetic variance (variome) of the Turkish population, focusing on how admixture and consanguinity influence their genomic makeup related to diseases.
  • Exome sequencing data from 773 affected individuals and 643 unaffected relatives revealed that Turkish genomes are closely related to Europeans, with two main subpopulations showing different levels of genetic mixing.
  • The analysis identified that higher inbreeding coefficients and longer runs of homozygosity in affected individuals are linked to rare harmful genetic variants, emphasizing their role in hereditary diseases within this population.
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Seizures in patients with developmental and epileptic encephalopathies (DEEs) are often highly resistant to various antiseizure medications. Perampanel (PER) is a novel antiseizure medication that non-competitively inhibits the α-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptor and is expected to reduce seizure frequency not only for focal seizures and generalized tonic-clonic seizures (GTCS) but also for other seizure types. This study aimed to clarify the long-term therapeutic efficacy and tolerability of PER in patients with DEEs.

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Koji made using Aspergillus oryzae shows potential for application as a cheese adjunct; however, flavor defects resulting from volatile free fatty acid (FFA) accumulation should be avoided. Hence, a modified glucose-containing whey solid medium was used to culture A. oryzae AHU 7139, and the triacylglycerol (TG) lipase activity and lipase gene (tglA and mdlB) expression were compared with those of a culture using a conventional whey solid medium.

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Article Synopsis
  • - WDR83OS encodes a protein called Asterix, which works with another protein, CCDC47, to help fold large proteins correctly, specifically those with transmembrane domains.
  • - Recent findings linked mutations in CCDC47 and WDR83OS to trichohepatoneurodevelopmental syndrome, showing consistent symptoms like neurodevelopmental disorders, facial dysmorphism, and liver dysfunction across multiple families.
  • - A zebrafish model lacking Wdr83os function demonstrated its crucial role in the nervous system and lipid absorption, further establishing a connection between WDR83OS mutations and neurological diseases characterized by elevated bile acids.
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Creating a mouse model that recapitulates human tau pathology is essential for developing strategies to intervene in tau-induced neurodegeneration. However, mimicking the pathological features seen in human pathology often involves a trade-off with artificial effects such as unexpected gene insertion and neurotoxicity from the expression system. To overcome these issues, we developed the rTKhomo mouse model by combining a transgenic CaMKII-tTA system with a P301L mutated 1N4R human tau knock-in at the locus with a C57BL/6J background.

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Purpose: This study aims to comprehensively delineate the phenotypic spectrum of ACTL6B-related disorders, previously associated with both autosomal recessive and autosomal dominant neurodevelopmental disorders. Molecularly, the role of the nucleolar protein ACTL6B in contributing to the disease has remained unclear.

Methods: We identified 105 affected individuals, including 39 previously reported cases, and systematically analysed detailed clinical and genetic data for all individuals.

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Cocoa extract (CE) offers several health benefits, such as antiobesity and improved glucose intolerance. However, the mechanisms remain unclear. Adipose tissue includes white adipose tissue (WAT) and brown adipose tissue.

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Article Synopsis
  • IgA is crucial for mucosal immunity as it helps reduce infections and supports a healthy relationship between the host and microbes.
  • The study explored the role of Bach1, a transcriptional repressor, in IgA-mediated mucosal immunity using mice lacking the Bach1 gene, revealing increased levels of IgA in the intestinal mucosa and plasma, but decreased levels in feces.
  • Findings suggest that the absence of Bach1 reduces the expression of the polymeric immunoglobulin receptor (pIgR), disrupting normal IgA secretion in the intestines, which points to a new understanding of Bach1's role in gut immunity.
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Thermal airway injuries, usually accompanied by facial burns, require emergency management. We encountered a pediatric case of a late airway-scalding injury without any initial signs of scalding on the face or inside the oral cavity. A 16-month-old boy was accidentally exposed to boiling water from overhead and developed tachypnea and dyspnea at 8 h after the injury.

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Approximately 500,000 women are diagnosed with cervical cancer annually, with high-grade cervical intraepithelial neoplasia (CIN) estimated to be 20 times higher. The diathermy ablation is an inexpensive minimally invasive surgeries for CIN. However, little is known about the treatment outcomes.

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This Letter reports the observation of WZγ production and a measurement of its cross section using 140.1±1.2  fb^{-1} of proton-proton collision data recorded at a center-of-mass energy of 13 TeV by the ATLAS detector at the Large Hadron Collider.

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Article Synopsis
  • The study focuses on a protein called SPOUT1/CENP-32, which is crucial for proper chromosome alignment during cell division.
  • When this protein is depleted, it causes problems like centrosome detachment and chromosome misalignment, leading to significant developmental issues.
  • The research also links genetic variants in humans to neurodevelopmental delays and identifies a disorder called SpADMiSS, characterized by symptoms like developmental delays, microcephaly, seizures, and short stature due to defects in cell division.
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A search for events with a dark photon produced in association with a dark Higgs boson via rare decays of the standard model Z boson is presented, using 139  fb^{-1} of sqrt[s]=13  TeV proton-proton collision data recorded by the ATLAS detector at the Large Hadron Collider. The dark boson decays into a pair of dark photons, and at least two of the three dark photons must each decay into a pair of electrons or muons, resulting in at least two same-flavor opposite-charge lepton pairs in the final state. The data are found to be consistent with the background prediction, and upper limits are set on the dark photon's coupling to the dark Higgs boson times the kinetic mixing between the standard model photon and the dark photon, α_{D}ϵ^{2}, in the dark photon mass range of [5, 40] GeV except for the ϒ mass window [8.

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Measuring the muscle force during gait can provide crucial knowledge for clarifying the walking mechanism and preventing injuries. However, non-invasive muscle force measurement is a major challenge in biomechanics. Previous research has investigated the relationship between the amplitude of electromyography (EMG) and muscle force.

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