Zobrazeno 1 - 10
of 88
pro vyhledávání: '"Hiroyuki Akagawa"'
Autor:
Akikazu Nakamura, Shunsuke Nomura, Shoko Hara, Thiparpa Thamamongood, Taketoshi Maehara, Tadashi Nariai, Shasha Khairullah, Kay Sin Tan, Kenko Azuma, Ayako Chida‐Nagai, Yoshiyuki Furutani, Takahiro Hori, Koji Yamaguchi, Takakazu Kawamata, Constantin Roder, Hiroyuki Akagawa
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-13 (2024)
Abstract Moyamoya vasculopathy secondary to various genetic disorders is classified as moyamoya syndrome (MMS). Recent studies indicate MMS occurs due to a combination of genetic modifiers and causative mutations for the primary genetic disorders. We
Externí odkaz:
https://doaj.org/article/52500fa5aa9c453988b7c7d29f5e708a
Autor:
Thiparpa THAMAMONGOOD, Shoko HARA, Hiroyuki AKAGAWA, Motoki INAJI, Yoji TANAKA, Tadashi NARIAI, Taketoshi MAEHARA
Publikováno v:
Neurologia Medico-Chirurgica, Vol 64, Iss 1, Pp 43-49 (2024)
Recently, thyroid autoantibodies were found to be associated with moyamoya disease (MMD). The ring finger protein 213 (RNF213) p.R4810K variant represents the most important susceptibility genotype of this disease, but its relationship with thyroid a
Externí odkaz:
https://doaj.org/article/922ff3ec961e4eaf95f72e04e398f7a1
Autor:
Ayako Chida‐Nagai, Hiroyuki Akagawa, Saori Sawai, Yue‐Jiao Ma, Satoshi Yakuwa, Jun Muneuchi, Kazushi Yasuda, Hirokuni Yamazawa, Toshiyuki Yamamoto, Emi Takakuwa, Utano Tomaru, Yoshiyuki Furutani, Tatsuya Kato, Gen Harada, Kei Inai, Toshio Nakanishi, Atsushi Manabe, Atsuhito Takeda, Zhi‐Cheng Jing
Publikováno v:
Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, Vol 13, Iss 9 (2024)
Background Peripheral pulmonary stenosis (PPS) is a condition characterized by the narrowing of the pulmonary arteries, which impairs blood flow to the lung. The mechanisms underlying PPS pathogenesis remain unclear. Thus, the aim of this study was t
Externí odkaz:
https://doaj.org/article/a2cb78169263400cbe224421f099250e
Autor:
Erina Nakahara, Keiko Shimojima Yamamoto, Hiromi Ogura, Takako Aoki, Taiju Utsugisawa, Kenko Azuma, Hiroyuki Akagawa, Kenichiro Watanabe, Michiko Muraoka, Fumihiko Nakamura, Michi Kamei, Koji Tatebayashi, Jun Shinozuka, Takahisa Yamane, Makoto Hibino, Yoshiya Katsura, Sonoko Nakano-Akamatsu, Norimitsu Kadowaki, Yoshiro Maru, Etsuro Ito, Shouichi Ohga, Hiroshi Yagasaki, Ichiro Morioka, Toshiyuki Yamamoto, Hitoshi Kanno
Publikováno v:
Human Genome Variation, Vol 10, Iss 1, Pp 1-6 (2023)
Abstract Hereditary stomatocytosis (HSt) is a type of congenital hemolytic anemia caused by abnormally increased cation permeability of erythrocyte membranes. Dehydrated HSt (DHSt) is the most common subtype of HSt and is diagnosed based on clinical
Externí odkaz:
https://doaj.org/article/f434ba04490942fdab9e164bc91d0e89
Autor:
Hiroshi Kataoka, Hiroyuki Akagawa, Rie Yoshida, Naomi Iwasa, Yusuke Ushio, Taro Akihisa, Masayo Sato, Shun Manabe, Shiho Makabe, Keiko Kawachi, Junichi Hoshino, Ken Tsuchiya, Kosaku Nitta, Toshio Mochizuki
Publikováno v:
Scientific Reports, Vol 12, Iss 1, Pp 1-9 (2022)
Abstract Presently, only personal or family history of intracranial aneurysm/subarachnoid hemorrhage (IA/SAH) has been established as a risk factor for IA in autosomal dominant polycystic kidney disease (ADPKD). This study aimed to verify the associa
Externí odkaz:
https://doaj.org/article/4752b49f2fe84b3ba1316f8adf5c8f54
Autor:
Hiroshi Kataoka, Hiroyuki Akagawa, Yusuke Ushio, Masayo Sato, Shun Manabe, Shiho Makabe, Keiko Kawachi, Taro Akihisa, Naomi Iwasa, Rie Yoshida, Ken Tsuchiya, Kosaku Nitta, Toshio Mochizuki
Publikováno v:
Stroke: Vascular and Interventional Neurology, Vol 2, Iss 5 (2022)
Background Screening for intracranial aneurysms (IAs) in patients with risk factors of IA is recommended. However, genetic risk factors of IA in patients with autosomal dominant polycystic kidney disease (ADPKD) remain unclear, and genotype–phenoty
Externí odkaz:
https://doaj.org/article/d5ed69fea6b14f22aa695deb4044646a
Autor:
Keiko Yamamoto-Shimojima, Hiroyuki Akagawa, Kumiko Yanagi, Tadashi Kaname, Nobuhiko Okamoto, Toshiyuki Yamamoto
Publikováno v:
Human Genome Variation, Vol 8, Iss 1, Pp 1-4 (2021)
Abstract Recently, altered PLP1 splicing was confirmed as a genetic cause of hypomyelination of early myelinating structures (HEMS). A novel deep intronic deletion in intron 3 of PLP1 (NM_000533.5: c.453+59_+259del) was identified, and an in vitro mi
Externí odkaz:
https://doaj.org/article/0f9941090b464af789bacde898510f79
Autor:
Shiro Horisawa, Kenkou Azuma, Hiroyuki Akagawa, Taku Nonaka, Takakazu Kawamata, Takaomi Taira
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 7, Iss 10, Pp 2047-2051 (2020)
Abstract Mutations in the lysine methyltransferase 2B (KMT2B) gene have recently been reported to be associated with childhood‐onset generalized dystonia. There have been no studies investigating ablative treatments for the management of this disor
Externí odkaz:
https://doaj.org/article/6edb89f04188404c94d27dc35aad6d08
Publikováno v:
PLoS ONE, Vol 17, Iss 3 (2022)
Background Intracranial aneurysms (IAs) cause subarachnoid hemorrhage, which has high rates of mortality and morbidity when ruptured. Recently, the role of rare variants in the genetic background of complex diseases has been increasingly recognized.
Externí odkaz:
https://doaj.org/article/651425cce0964a19ab964229cd302f90
Autor:
Masato Murakami, Shiro Horisawa, Kenko Azuma, Hiroyuki Akagawa, Taku Nonaka, Takakazu Kawamata, Takaomi Taira
Publikováno v:
Frontiers in Neurology, Vol 12 (2021)
Background: Paroxysmal kinesigenic dyskinesia (PKD) is a movement disorder characterized by transient dyskinetic movements, including dystonia, chorea, or both, triggered by sudden voluntary movements. Carbamazepine and other antiepileptic drugs (AED
Externí odkaz:
https://doaj.org/article/f311e8f11dc74d2e8ee25d327bace4c7