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71.
Mami Kizawa Yu Nakagama Takahiro Shindo Seishi Ogawa Ryo Inuzuka 《The Canadian journal of cardiology》2018,34(10):1369.e5-1369.e7
Because of the rare co-occurrence, it remains a question whether cardiomyopathy is a true association of neurofibromatosis type 1. A boy with café-au-lait spots manifested restrictive cardiomyopathy. Whole exome sequencing confirmed the genetic diagnosis of neurofibromatosis and further identified a novel titin (TTN) missense variant. The significance of the variant is supported by its de novo origin, in silico predictions, and evolutionary conservation. Modern genetics raises an intriguing explanation for the unexpected phenotype and adds to the evolving role of TTN variants in cardiomyopathy. 相似文献
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Masumi Akiba Kentaro Sugimoto Risa Aoki Ryo Murakami Tomoyuki Miyashita Riho Hashimoto Anna Hiranuma Junji Yamauchi Taro Ueno Takako Morimoto 《The European journal of neuroscience》2020,51(3):822-839
State‐dependent modulation of sensory systems has been studied in many organisms and is possibly mediated through neuromodulators such as monoamine neurotransmitters. Among these, dopamine is involved in many aspects of animal behaviour, including movement control, attention, motivation and cognition. However, the precise neural mechanism underlying dopaminergic modulation of behaviour induced by sensory stimuli remains poorly understood. Here, we used Drosophila melanogaster to show that dopamine can modulate the optomotor response to moving visual stimuli including noise. The optomotor response is the head‐turning response to moving objects, which is observed in most sight‐reliant animals including mammals and insects. First, the effects of the dopamine system on the optomotor response were investigated in mutant flies deficient in dopamine receptors D1R1 or D1R2, which are involved in the modulation of sleep‐arousal in flies. We examined the optomotor response in D1R1 knockout (D1R1 KO) and D1R2 knockout (D1R2 KO) flies and found that it was not affected in D1R1 KO flies; however, it was significantly reduced in D1R2 KO flies compared with the wild type. Using cell‐type‐specific expression of an RNA interference construct of D1R2, we identified the fan‐shaped body, a part of the central complex, responsible for dopamine‐mediated modulation of the optomotor response. In particular, pontine cells in the fan‐shaped body seemed important in the modulation of the optomotor response, and their neural activity was required for the optomotor response. These results suggest a novel role of the central complex in the modulation of a behaviour based on the processing of sensory stimulations. 相似文献
74.
Gen Hamanaka Tomoya Kubo Ryo Ohtomo Hajime Takase Estefania Reyes-Bricio Shuntaro Oribe Noriko Osumi Josephine Lok Eng H. Lo Ken Arai 《Glia》2020,68(7):1435-1444
Upon infection or brain damage, microglia are activated to play roles in immune responses, including phagocytosis and soluble factor release. However, little is known whether the event of phagocytosis could be a trigger for releasing soluble factors from microglia. In this study, we tested if microglia secrete a neurovascular mediator matrix metalloproteinase-9 (MMP-9) after phagocytosis in vitro. Primary microglial cultures were prepared from neonatal rat brains. Cultured microglia phagocytosed Escherichia coli bioparticles within 2 hr after incubation and started to secrete MMP-9 at around 12 hr after the phagocytosis. A TLR4 inhibitor TAK242 suppressed the E. coli-bioparticle-induced MMP-9 secretion. However, TAK242 did not change the engulfment of E. coli bioparticles in microglial cultures. Because lipopolysaccharides (LPS), the major component of the outer membrane of E. coli, also induced MMP-9 secretion in a dose–response manner and because the response was inhibited by TAK242 treatment, we assumed that the LPS-TLR4 pathway, which was activated by adhering to the substance, but not through the engulfing process of phagocytosis, would play a role in releasing MMP-9 from microglia after E. coli bioparticle treatment. To support the finding that the engulfing step would not be a critical trigger for MMP-9 secretion after the event of phagocytosis in microglia, we confirmed that cell debris and amyloid beta were both captured into microglia via phagocytosis, but neither of them induced MMP-9 secretion from microglia. Taken together, these data demonstrate that microglial response in MMP-9 secretion after phagocytosis differs depending on the types of particles/substances that microglia encountered. 相似文献
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Ultrasonic measurement of the effects of light irradiation and presence of water on the polymerization of self‐adhesive resin cement 下载免费PDF全文
Hirotaka Takenaka Hajime Ouchi Keiichi Sai Ryo Kawamoto Ryosuke Murayama Hiroyasu Kurokawa Masashi Miyazaki 《European journal of oral sciences》2015,123(5):369-374
Self‐adhesive resin cements are useful in restorations because they reduce the number of clinical steps involved in the restoration process. This study evaluated, using ultrasonic measurements, the influence of light irradiation and the presence of water on the polymerization behavior and elastic modulus of a self‐adhesive resin cement. A self‐adhesive resin cement (RelyX Unicem 2 Automix) or a resin cement (RelyX ARC) was inserted into a transparent mold on a sample stage, and the presence of water and effect of light‐irradiation were evaluated. The transit time of a sonic wave through the cement disk was divided by the specimen thickness to obtain the sonic velocity, and longitudinal and shear waves were used to determine the elastic modulus. When the resin cements were light‐irradiated, the sonic velocity rapidly increased and plateaued at 2,500–2,700 m s?1. When the cements were not irradiated, the rates of increase in the sonic velocity were reduced. When water was applied to the sample stage, the sonic velocity was reduced. The elastic modulus values of the specimens ranged from 9.9 to 15.9 GPa after 24 h. The polymerization behavior of self‐adhesive resin cements is affected by the polymerization mode and the presence of water. 相似文献
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Shinichiro Muro Hironari Kato Etsuji Ishida Toru Ueki Masakuni Fujii Ryo Harada Hiroyuki Seki Ken Hirao Masaki Wato Yutaka Akimoto Masahiro Takatani Hirofumi Tsugeno Jiro Miyaike Tatsuya Toyokawa Mamoru Nishimura Naoko Yunoki Hiroyuki Okada 《Journal of gastroenterology and hepatology》2020,35(1):37-42
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Chao‐Kai Hsu Ryo Saito Arti Nanda Ellie Rashidghamat Hejab Al‐Ajmi Julia Yu‐Yun Lee Michihiro Hide John A McGrath 《The Australasian journal of dermatology》2017,58(1):58-60
Naevus sebaceus has recently been shown to result from post‐zygotic mutations in HRAS, KRAS or occasionally NRAS. We present details of a neonate with extensive naevus sebaceus in whom we identified a pathogenic mutation in HRAS (c.37G > C; p.Gly13Arg), but only in lesional skin DNA, consistent with a mosaic RASopathy. This case highlights the clinicopathological and molecular findings of this naevoid disorder as well as the key issues in the clinical assessment and management of such patients. 相似文献