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1,317 results on '"Takahashi, Hironori"'

19. Disease-associated mutations hyperactivate KIF1A motility and anterograde axonal transport of synaptic vesicle precursors

Author

Chiba, Kyoko, Takahashi, Hironori, Chen, Min, Obinata, Hiroyuki, Arai, Shogo, Hashimoto, Koichi, Oda, Toshiyuki, McKenney, Richard J, and Niwa, Shinsuke

Subjects
Biochemistry and Cell Biology, Biological Sciences, Neurodegenerative, Neurosciences, Rare Diseases, Genetics, Neurological, Animals, Axonal Transport, Axons, Caenorhabditis elegans, Genetic Predisposition to Disease, Humans, Kinesins, Motor Neuron Disease, Mutation, Spastic Paraplegia, Hereditary, Synaptic Vesicles, axonal transport, hereditary spastic paraplegia, kinesin, KIF1A, UNC-104
Abstract

KIF1A is a kinesin family motor involved in the axonal transport of synaptic vesicle precursors (SVPs) along microtubules (MTs). In humans, more than 10 point mutations in KIF1A are associated with the motor neuron disease hereditary spastic paraplegia (SPG). However, not all of these mutations appear to inhibit the motility of the KIF1A motor, and thus a cogent molecular explanation for how KIF1A mutations lead to neuropathy is not available. In this study, we established in vitro motility assays with purified full-length human KIF1A and found that KIF1A mutations associated with the hereditary SPG lead to hyperactivation of KIF1A motility. Introduction of the corresponding mutations into the Caenorhabditis elegans KIF1A homolog unc-104 revealed abnormal accumulation of SVPs at the tips of axons and increased anterograde axonal transport of SVPs. Our data reveal that hyperactivation of kinesin motor activity, rather than its loss of function, is a cause of motor neuron disease in humans.

Published
2019

22. Upregulation of Autophagy During the Differentiation of Primary Human Term Cytotrophoblast Cells into Syncytial Cells: Ultrastructural Analysis.

Author

Tozawa, Shohei, Takahashi, Hironori, Noguchi, Syunya, Takizawa, Takami, Sakurai, Takanobu, Ohkuchi, Akihide, Fujiwara, Hiroyuki, and Takizawa, Toshihiro

Subjects
*TROPHOBLAST, *TRANSMISSION electron microscopy, *CELL aggregation, *ELECTRON microscopy, *FETAL development, *CELL differentiation
Abstract

The villous trophoblast cells are of fundamental importance because they fulfill a variety of functions that are vital for the growth of the fetus and the maintenance of pregnancy. A simple in vitro villous trophoblast cell model that grows on standard tissue culture plates has been utilized for various functional studies on villous trophoblast cells. Despite the potential value of incorporating electron microscopy analysis in reports on functional analysis of primary human trophoblast cells, electron microscopy analysis is exclusively ancillary to functional analysis in previous publications. In the context of autophagy research of villous trophoblast cells using primary trophoblast cells, a detailed ultrastructural analysis of autophagy flux using electron microscopy is imperative; however, it has not been conducted to date. In this study, we isolated term villous trophoblast cells (i.e., cytotrophoblast cells, CTB cells) using the most up-to-date isolation method for isolating pure CTB cells from human term placenta and investigated the ultrastructural dynamic process of autophagy of cultured CTB cells by means of transmission electron microscopy. The initial 6 h culture resulted in CTB cell aggregation; however, the majority of CTB cells did not differentiate into syncytial cells. In contrast, after 72 h, CTB cells exhibited a promotion of differentiation into syncytial cells. The electron microscopy analysis revealed the upregulation of autophagy and visualized unique autophagic profiles during differentiation into syncytial cells, which exhibited perinuclear accumulation of extremely large autophagosomes/autolysosomes. This study provides novel insights into the reproductive biology of primary trophoblast cells, thereby demonstrating the substantial value of primary trophoblast cells as research resources. [ABSTRACT FROM AUTHOR]

Published
2025
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23. Severe Phenotype With RECQL4 Syndrome: A Report of Two Cases.

Author

Kanai, Yu, Takahashi, Hironori, Hasegawa, Fuyuki, Hori, Asuka, Suzuki, Hisato, Takahashi, Shoko, Fukushima, Hiroko, Takada, Hidetoshi, Horie, Kenji, Ozawa, Katsunori, Furukawa, Rieko, Kosaki, Kenjiro, and Hata, Kenichiro

Abstract

Baller–Gerold syndrome (BGS, OMIM: 218600), RAPADILINO syndrome (OMIM 266280), and Rothmund–Thomson syndrome (RTS, OMIM 266280), which are caused in some cases by RECQL4 pathogenic variants, show autosomal recessive inheritance. Some refer to them collectively as RECQL4 syndromes. Most cases have been reported during infancy and childhood periods. However, there have been no reports of phenotypes resulting in a lethal course in the perinatal period. We identified two fetuses with biallelic RECQL4 pathogenic variants during the perinatal period. The two fetuses with RECQL4 syndrome showed structural abnormalities, including severely hypoplastic forearms and lower legs. One fetus also had severe pulmonary hypoplasia. One case resulted in neonatal death because of respiratory failure, and the other was artificially terminated during pregnancy. The RECQL4 pathogenic variants were identified by exome sequencing followed by Sanger sequencing. The biallelic RECQL4 pathogenic variants can induce a lethal skeletal disorder. [ABSTRACT FROM AUTHOR]

Published
2025
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25. Mechanical dispersion combined with global longitudinal strain estimated by three dimensional speckle tracking in patients with ST elevation myocardial infarction

Author

Iwahashi, Noriaki, Kirigaya, Jin, Gohbara, Masaomi, Abe, Takeru, Horii, Mutsuo, Hanajima, Yohei, Toya, Noriko, Takahashi, Hironori, Kirigaya, Hidekuni, Minamimoto, Yugo, Kimura, Yuichiro, Okada, Kozo, Matsuzawa, Yasushi, Hibi, Kiyoshi, Kosuge, Masami, Ebina, Toshiaki, Tamura, Kouichi, and Kimura, Kazuo

Published
2022
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27. Prevalence of common aneuploidy in twin pregnancies

Author

Konishi, Akiko, Samura, Osamu, Muromoto, Jin, Okamoto, Yoko, Takahashi, Hironori, Kasai, Yasuyo, Ichikawa, Mayuko, Yamada, Naoki, Kato, Noriko, Sato, Hiroshi, Hamada, Hiromi, Nakanami, Naoyuki, Machi, Maya, Ichizuka, Kiyotake, Sunami, Rei, Tanaka, Toshitaka, Yonetani, Naoto, Kamei, Yoshimasa, Nagamatsu, Takeshi, Matsumoto, Mariko, Tairaku, Shinya, Fujiwara, Arisa, Nakamura, Hiroaki, Harada, Takashi, Watanabe, Takafumi, Sasaki, Shoko, Kawaguchi, Satoshi, Minami, Sawako, Ogawa, Masaki, Miura, Kiyonori, Suzumori, Nobuhiro, Kojima, Junya, Kotani, Tomomi, Sasaki, Rumi, Baba, Tsukasa, Toyofuku, Aya, Endo, Masayuki, Takeshita, Naoki, Taketani, Takeshi, Sase, Masakatsu, Matsubara, Keiichi, Hayata, Kei, Hamada, Yoshinobu, Egawa, Makiko, Kakinuma, Toshiyuki, Matsushima, Sachio, Kitagawa, Michihiro, Shiga, Tomomi, Kurashina, Ryuhei, Hamada, Hironori, Takagi, Hiroaki, Kondo, Akane, Miharu, Norio, Yamashita, Michiko, Horiya, Madoka, Morimoto, Keiji, Takahashi, Ken, Okamoto, Aikou, Sekizawa, Akihiko, and Sago, Haruhiko

Published
2022
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35. Skeletal muscle mass is associated with glycemic variability in patients with ST-segment elevation myocardial infarction

Author

Gohbara, Masaomi, Iwahashi, Noriaki, Sato, Ryosuke, Akiyama, Eiichi, Konishi, Masaaki, Nakahashi, Hidefumi, Kataoka, Shunsuke, Takahashi, Hironori, Kirigaya, Jin, Minamimoto, Yugo, Okada, Kozo, Matsuzawa, Yasushi, Maejima, Nobuhiko, Hibi, Kiyoshi, Kosuge, Masami, Ebina, Toshiaki, Sugano, Teruyasu, Ishikawa, Toshiyuki, Tamura, Kouichi, and Kimura, Kazuo

Published
2021
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36. Association between adenomyosis and placenta accreta and mediation effect of assisted reproductive technology on the association: A nationwide observational study.

Author

Wada, Yoshimitsu, Takahashi, Hironori, Ogoyama, Manabu, Horie, Kenji, Suzuki, Hirotada, Usui, Rie, Jwa, Seung Chik, Ohkuchi, Akihide, and Fujiwara, Hiroyuki

Subjects
*INTRACYTOPLASMIC sperm injection, *PLACENTA accreta, *PLACENTA praevia, *POSTPARTUM hemorrhage, *FERTILIZATION in vitro
Abstract

Objectives: To investigate the association between adenomyosis and placenta accreta spectrum (PAS) and to evaluate the effect of assisted reproductive technology (ART) in mediating this association. Methods: We retrieved data for singleton women from the Japanese nationwide perinatal registry between 2013 and 2019, excluding women with a history of adenomyomectomy. To investigate the association between adenomyosis and PAS among women, we used a multivariable logistic regression model with multiple imputation for missing data. We evaluated mediation effect of ART including in vitro fertilization and intracytoplasmic sperm injection on the association between adenomyosis and PAS using causal mediation analysis based on the counterfactual approach. Results: Of 1 500 173 pregnant women, 1539 (0.10%) had adenomyosis. The number receiving ART was 489/1539 (31.8%) and 117 482/1 498 634 (7.8%) in women with and without adenomyosis, respectively. The proportion of women who developed PAS was 21/1539 (1.4%) in women with adenomyosis and 7530/1 498 634 (0.5%) in women without adenomyosis. Adenomyosis was significantly associated with PAS (odds ratio [OR] 1.95; 95% confidence interval [CI] 1.26–3.00; P = 0.002). Mediation analysis showed that OR of the total effect of adenomyosis on PAS was 1.98 (95% CI 1.13–3.04), OR of natural indirect effect (effect explained by ART) was 1.15 (95% CI 1.01–1.41), and OR of natural direct effect (effect unexplained by ART) was 1.72 (95% CI 0.86–2.82). The proportion mediated (natural indirect effect/total effect) was 26.5%. Adenomyosis was also significantly associated with PAS without previa (OR 1.96; 95% CI 1.23–3.13, P = 0.005). Conclusion: Adenomyosis was significantly associated with PAS. ART mediated 26.5% of the association between adenomyosis and PAS. Synopsis: Adenomyosis was associated with placenta accreta development. Assisted reproductive technology partially mediated the association between adenomyosis and placenta accreta. [ABSTRACT FROM AUTHOR]

Published
2024
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38. Clinical impact of admission urinary 8-hydroxydeoxyguanosine level for predicting cardiovascular mortality in patients with acute coronary syndrome

Author

Gohbara, Masaomi, Iwahashi, Noriaki, Nakahashi, Hidefumi, Kataoka, Shunsuke, Takahashi, Hironori, Kirigaya, Jin, Minamimoto, Yugo, Akiyama, Eiichi, Okada, Kozo, Matsuzawa, Yasushi, Konishi, Masaaki, Maejima, Nobuhiko, Hibi, Kiyoshi, Kosuge, Masami, Ebina, Toshiaki, Sugano, Teruyasu, Ishikawa, Toshiyuki, Tamura, Kouichi, and Kimura, Kazuo

Published
2021
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41. IFPA meeting 2018 workshop report I: Reproduction and placentation among ocean-living species; placental imaging; epigenetics and extracellular vesicles in pregnancy

Author

Acharya, Ganesh, Bartolomei, Marisa, Carter, Anthony M., Chamley, Larry, Cotton, Charles F., Hasegawa, Junichi, Hasegawa, Yuri, Hayakawa, Satoshi, Kawaguchi, Mari, Konwar, Chaini, Magawa, Shoichi, Miura, Kiyonori, Nishi, Hirotaka, Salomon, Carlos, Sato, Keiichi, Soejima, Hidenobu, Soma, Hiroaki, Sørensen, Anne, Takahashi, Hironori, Tomita, Taketeru, Whittington, Camilla M., Yuan, Victor, and O'Tierney-Ginn, Perrie

Published
2019
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42. Confined placental mosaicism with trisomy 13 complicated by severe preeclampsia: A case report and literature review.

Author

Ito, Takaaki, Takahashi, Hironori, Horie, Kenji, Nagayama, Shiho, Ogoyama, Manabu, and Fujiwara, Hiroyuki

Subjects
*PREECLAMPSIA diagnosis, *PROTEINURIA, *CHORIONIC villus sampling, *FETAL growth retardation, *SECOND trimester of pregnancy, *CHROMOSOME abnormalities, *PRENATAL diagnosis, *FETAL ultrasonic imaging, *KARYOTYPES, *HYPERTENSION in pregnancy, *MOSAICISM, *AMNIOCENTESIS
Abstract

A 31‐year‐old primiparous woman underwent non‐invasive prenatal testing. The result was trisomy 13 (T13) positive. The chromosome 13 t‐statistics (Z‐score) was significantly high. The result of amniocentesis was normal karyotype (46,XX). Detailed ultrasound showed no fetal structural abnormalities. We suspected T13 confined placental mosaicism (CPM) and observed the course naturally. From the late second trimester, severe fetal growth restriction manifested followed by proteinuria and hypertension, diagnosing her with preeclampsia (PE). At 35 + 5 weeks, emergent cesarean section was required, yielding a 1480 g female infant. We sampled five locations of chorionic villi in the placenta. T13 cells dominated cells with normal karyotypes in all parts and the rate of trisomic cells ranged from 57% to 96%, which were generally high rate. None developed PE in reported T13 CPM cases and this is the first case of PE. The dominancy of T13 cells can be associated with PE development. [ABSTRACT FROM AUTHOR]

Published
2024
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44. A novel variant in IFT122 associated with a severe phenotype of cranioectodermal dysplasia.

Author

Nagayama, Shiho, Takahashi, Hironori, Hasegawa, Fuyuki, Hori, Asuka, Kizami, Sho, Furukawa, Rieko, Horie, Kenji, Ogoyama, Manabu, Hata, Kenichiro, and Fujiwara, Hiroyuki

Subjects
DYSPLASIA, PHENOTYPES, GENETIC variation, UMBILICAL cord, SKELETAL dysplasia
Abstract

A 27‐year‐old multiparous woman conceived her fetus naturally. Early second‐trimester ultrasound showed short extremities with systemic subcutaneous edema. The pregnancy was artificially terminated at 19 weeks of gestation because of the abnormalities based on the parents' wishes. The parents desired whole‐exome sequencing to detect a causative gene using the umbilical cord and the parents' saliva. Compound heterozygous variants (NC_000003.11(NM_052989.3):c.230 T > G/NC_000003.11(NM_052985.4):c.1178A > T) were identified. We described a fetus with a novel compound heterozygous variant in IFT122. The phenotype of this case was severer than of other types of cranioectodermal dysplasia. [ABSTRACT FROM AUTHOR]

Published
2024
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48. Automated electrochemiluminescence immunoassay for serum PlGF levels in women with singleton pregnancy at 9–13 weeks of gestation predicts preterm preeclampsia: a retrospective cohort study

Author

Ohkuchi, Akihide, primary, Takahashi, Kayo, additional, Hirashima, Chikako, additional, Suzuki, Hirotada, additional, Takahashi, Hironori, additional, Nagayama, Shiho, additional, Ogoyama, Manabu, additional, Horie, Kenji, additional, Usui, Rie, additional, and Fujiwara, Hiroyuki, additional

Published
2023
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