Zobrazeno 1 - 10
of 78
pro vyhledávání: '"Hajime Nishio"'
Autor:
Takuma Yamamoto, Rie Sano, Aya Miura, Mai Imasaka, Yoshiro Naito, Minori Nishiguchi, Kensuke Ihara, Naruhito Otani, Yoshihiko Kominato, Masaki Ohmuraya, Hidehito Kuroyanagi, Hajime Nishio
Publikováno v:
Journal of molecular medicine (Berlin, Germany). 100(12)
Abstract RBM20 is one of the genes predisposing to dilated cardiomyopathy (DCM). Variants in the RS domain have been reported in many DCM patients, but the pathogenicity of variants within the RNA-recognition motif remains unknown. Two human patients
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a843ce3a71b4ce7944ca0fdca4ead4ff
https://pubmed.ncbi.nlm.nih.gov/36198914
https://pubmed.ncbi.nlm.nih.gov/36198914
Autor:
Nagomi Kurebayashi, Masami Kodama, Takashi Murayama, Masami Sugihara, Masato Konishi, Aya Miura, Hajime Nishio, Yukiko U. Inoue, Takayoshi Inoue, Satoru Noguchi, Takashi Sakurai
Publikováno v:
Biophysical Journal. 122:238a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::43dabbc2c06be0c2f4a8245336e5522d
https://doi.org/10.1016/j.bpj.2022.11.1395
https://doi.org/10.1016/j.bpj.2022.11.1395
Autor:
Aya Miura, Kazuhisa Funayama, Hiromi Nyuzuki, Naoya Takahashi, Takuma Yamamoto, Akihide Koyama, Takeshi Ikeuchi, Hisakazu Takatsuka, Hajime Nishio
Publikováno v:
Legal medicine (Tokyo, Japan). 55
A Japanese man in his 30s died suddenly. Postmortem computed tomography and autopsy revealed a pulmonary embolism from an organizing thrombus in the inferior vena cava as the cause of death. Genomic analysis of congenital thrombophilia-related genes
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b34afc1c8df9df8bb265a84f7b9bc961
https://pubmed.ncbi.nlm.nih.gov/35121353
https://pubmed.ncbi.nlm.nih.gov/35121353
Publikováno v:
International heart journal. 61(5)
A Japanese girl with polycystic kidney disease (PKD) developed normally, but at 8 months of age, she was hospitalized for acute onset dyspnea. On the day after admission to hospital, her general condition suddenly became worse. An echocardiogram show
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::0acc5976d7265ed8b8c79160b6af1de1
https://pubmed.ncbi.nlm.nih.gov/32879264
https://pubmed.ncbi.nlm.nih.gov/32879264
Autor:
Nagomi Kurebayashi, Masami Kodama, Takashi Murayama, Masami Sugihara, Koichro Ishii, Yuta Okabe, Nobuyuki Murakoshi, Aya Miura, Hajime Nishio, Yukiko U. Inoue, Takayoshi Inoue, Satoru Noguchi, Eri Nakamura, Fumio Kanai, Norihiro Tada, Takashi Sakurai
Publikováno v:
Proceedings for Annual Meeting of The Japanese Pharmacological Society. 96:3-B
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::140cde151d973ace9529ecdf0b3ee05f
https://doi.org/10.1254/jpssuppl.96.0_3-b-o08-3
https://doi.org/10.1254/jpssuppl.96.0_3-b-o08-3
Publikováno v:
Forensic science international. 302
The aim of this study is to determine the molecular mechanism of sudden death in a previously healthy patient. Clinical exome sequencing revealed I536T-RBM20 variant, which alters RNA splicing of TTN and is causative for dilated cardiomyopathy. Compr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aeef5d1d16b7161bdc81191265b3a58f
https://pubmed.ncbi.nlm.nih.gov/31419596
https://pubmed.ncbi.nlm.nih.gov/31419596
Autor:
Minori Nishiguchi, Hajime Nishio
Publikováno v:
Forensic Medicine and Human Cell Research ISBN: 9789811322969
Methamphetamine, a representative stimulant, is one of the most commonly abused drugs globally. Although originally used in healthcare settings as a psychostimulant among the psychotropic drugs, it has been illegally bootlegged and abused because of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c6c8ca69a1cf69ef21074f94c8b0d2dd
https://doi.org/10.1007/978-981-13-2297-6_5
https://doi.org/10.1007/978-981-13-2297-6_5
Autor:
Takuma Yamamoto, Hajime Nishio
Publikováno v:
Forensic Medicine and Human Cell Research ISBN: 9789811322969
Metabolic diseases are one of the main causes of sudden infant death, but definitive postmortem diagnosis is difficult, because metabolic diseases are functional and have fewer morphological abnormalities. Metabolic autopsy is a procedure that focuse
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7e354c6e86e7e68f2ba869b0b91ccc09
https://doi.org/10.1007/978-981-13-2297-6_6
https://doi.org/10.1007/978-981-13-2297-6_6
Publikováno v:
Journal of Forensic Sciences. 60:457-461
Arrhythmogenic right ventricular cardiomyopathy (ARVC) results in an increased risk of sudden death. We sought mutations of desmoglein-2 (DSG2), desmoplakin (DSP), and plakophilin-2 (PKP2) in 15 cases of sudden death whose causes of death could not b
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::69d92d620375aba8e5218ad9eb6b82c2
https://doi.org/10.1111/1556-4029.12657
https://doi.org/10.1111/1556-4029.12657
Publikováno v:
The Journal of Biological Chemistry
Background: Effects of drug abuse on LINE-1 retrotransposition (L1-RTP) in somatic cells are unknown. Results: Methamphetamine and cocaine-induced L1-RTP depends on CREB. Conclusion: Methamphetamine and cocaine activate CREB and L1-RTP in neuronal ce
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::37c191bc86bd00b201c31d8deca8cf77
https://doi.org/10.1074/jbc.m114.559419
https://doi.org/10.1074/jbc.m114.559419