Takashi Kato

Hypomorphic Lig4 gene mutation in mice predisposes to Th1-skewing intestinal inflammation

Yusuke Yamashita, Hideki Kosako, Takashi Kato, Izumi Sasaki et autres

Abstract Dysregulation of DNA double-strand break (DSB) repair leads to adaptive immunodeficiency, whereas the remaining lymphocytes are aberrantly activated and provoke inflammations. However, no model mice were available to consistently manifest inflammation under defective DSB repair. We generated mutant mice carrying a …

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Technologies for e-Mobility

Takashi Kato, Hisashi Kuroda, Kaori Matsumoto, Jun Onaya et autres

To reduce carbon dioxide emissions from mobility, electrified vehicles and mobility have been rapidly increasing in recent years. In this regard, this paper presents the latest trend of technologies supporting mobility electrification, such as electric motors, inverters, and related technologies including vehicle-to-everything, …

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Pathogenic Variants in the Fibronectin Type Iii Domain of Leptin Receptor: Molecular Dynamics Simulation and Structural Analysis

Takashi Kato, Fumiko Matsuzawa, Nobuhiro Shojima, Toshimasa Yamauchi

Heterozygous missense variant of the proteasome subunit β-type 9 causes neonatal-onset autoinflammation and immunodeficiency

Nobuo Kanazawa, Hiroaki Hemmi, Noriko Kinjo, Hidenori Ohnishi et autres

Abstract Impaired proteasome activity due to genetic variants of certain subunits might lead to proteasome-associated autoinflammatory syndromes (PRAAS). Here we report a de novo heterozygous missense variant of the PSMB9 proteasome subunit gene in two unrelated Japanese infants resulting in amino acid …

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Intracranial Hemorrhage in a Patient with TAFRO Syndrome Treated with Cyclosporine A and Rituximab

Yuina Akagi, Takashi Kato, Yusuke Yamashita, Hiroki Hosoi et autres

TAFRO syndrome, a rare subtype of idiopathic multicentric Castleman disease, manifests as thrombocytopenia, anasarca, fever, reticulin fibrosis, and organomegaly. Thrombotic microangiopathy, including renal dysfunction, is frequently associated with this syndrome. TAFRO syndrome can be life threatening and show rapid progression, and the …

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Augmentation of Stimulator of Interferon Genes–Induced Type I Interferon Production in COPA Syndrome

Takashi Kato, Masaki Yamamoto, Yoshitaka Honda, Takashi Orimo et autres

Objective Coatomer subunit alpha (COPA) syndrome, also known as autoinflammatory interstitial lung, joint, and kidney disease, is caused by heterozygous mutations in COPA. We identified a novel COPA variant in 4 patients in one family. We undertook this study to elucidate whether …

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Neonatal-onset autoinflammation and immunodeficiency caused by heterozygous missense mutation of the proteasome subunit β-type 9

Nobuo Kanazawa, Hiroaki Hemmi, Noriko Kinjo, Hidenori Ohnishi et autres

ABSTRACT BACKGROUND Defective proteasome activities due to genetic mutations lead to an autoinflammatory disease, termed as proteasome-associated autoinflammatory syndromes (PRAAS). In PRAAS relapsing inflammations and progressive wasting are common, but immunodeficiency has not been reported. METHODS We studied two unrelated Japanese infants …

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1325-P: Effectiveness of Comprehensive Gene Panel-Based Next-Generation Sequencing with Phenotype-Driven Bioinformatics Analysis for Diagnosis of Atypical Diabetes

Jun Hosoe, Hiroko Kadowaki, Fuyuki Miya, Minaka Takakura et autres

Atypical diabetes is considered to be different from the common forms of diabetes (types 1 and 2); however, it may share pathogenetic and phenotypic features with the common forms of diabetes. Targeted next-generation sequencing focused on genes causing monogenic diabetes has been …

Immunohistochemical analysis on aquaporin-1 and aquaporin-3 in skin wounds from the aspects of wound age determination

Yuko Ishida, Yumi Kuninaka, Fukumi Furukawa, Akihiko Kimura et autres

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Detection of intrathrombotic endothelial progenitor cells and its application to thrombus age estimation in a murine deep vein thrombosis model

Mizuho Nosaka, Yuko Ishida, Akihiko Kimura, Hiroki Yamamoto et autres

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Asymmetric Total Synthesis of (−)-Astakolactin and Confirmation of Its Stereostructure

Takayuki Tonoi, Yutaka Yoshinaga, Moe Fujishiro, Keisuke Mameda et autres

The originally proposed structure of astakolactin was revised, and an asymmetric total synthesis of the newly proposed structure was achieved. The key transformations in the synthesis were a Johnson-Claisen rearrangement, an asymmetric Mukaiyama aldol reaction, and a Mitsunobu-type cyclodehydration. The spectroscopic data …

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Characterization of immature multipotent progenitors by cell transplantation in frog model

Yuta Tanizaki, Yoko Mochizuki, Takato Otani, Takashi Kato