Zobrazeno 1 - 10
of 48
pro vyhledávání: '"Hiromi Nyuzuki"'
Autor:
Hiromi Nyuzuki, Junichi Ozawa, Keisuke Nagasaki, Yosuke Nishio, Tomoo Ogi, Jun Tohyama, Takeshi Ikeuchi
Publikováno v:
Human Genome Variation, Vol 11, Iss 1, Pp 1-3 (2024)
Abstract Cardiospondylocarpofacial syndrome (CSCFS) is a congenital malformation characterized by growth retardation, facial features, short toes with carpal and tarsal fusion, extensive posterior neck vertebral fusion, congenital heart disease, and
Externí odkaz:
https://doaj.org/article/f2955635b18a4ecfaf06d51f79a92c9f
Autor:
Takanori Onuki, Shota Hiroshima, Kentaro Sawano, Nao Shibata, Yohei Ogawa, Keisuke Nagasaki, Hiromi Nyuzuki
Publikováno v:
Children, Vol 10, Iss 8, p 1341 (2023)
Background: There are reports of mothers being diagnosed with inborn errors of metabolism (IEM) via positive newborn screening (NBS) of their newborns. Mothers with IEM are often considered to have mild cases of little pathological significance. Base
Externí odkaz:
https://doaj.org/article/226fed19424c48a5802414278ffa8240
Autor:
Hiromi Nyuzuki, Shinji Ito, Keisuke Nagasaki, Yohei Nitta, Noriko Matsui, Akihiko Saitoh, Hideaki Matsui
Publikováno v:
IBRO Reports, Vol 9, Iss , Pp 1-8 (2020)
ATP13A2 is the autosomal recessive causative gene for juvenile-onset Parkinson’s disease (PARK9, Parkinson’s disease 9), also known as Kufor-Rakeb syndrome. The disease is characterized by levodopa-responsive Parkinsonism, supranuclear gaze palsy
Externí odkaz:
https://doaj.org/article/0b96b0d772c648be921978559bdf098a
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 21, Iss , Pp - (2019)
Sapropterin dihydrochloride (SD) may be a new treatment option for women with phenylketonuria (PKU) who plan to become pregnant. We report the first Japanese case of maternal PKU treated with SD. The patient was administered SD at 10–20 mg/kg/day,
Externí odkaz:
https://doaj.org/article/273fd63d388c4faebe2bf3c3e3b82e79
Autor:
Keisuke Nagasaki, Hidetoshi Sato, Sunao Sasaki, Hiromi Nyuzuki, Nao Shibata, Kentaro Sawano, Shota Hiroshima, Tadashi Asami
Publikováno v:
International Journal of Neonatal Screening, Vol 7, Iss 2, p 27 (2021)
Although newborn screening (NBS) for congenital hypothyroidism (CH) in Japan started more than 40 years ago, the prevalence of CH remains unclear. Prevalence estimations among NBS-positive CH individuals include those with transient hypothyroidism an
Externí odkaz:
https://doaj.org/article/494902acb980494699fb97773a0d4408
Publikováno v:
Children, Vol 8, Iss 4, p 293 (2021)
There are limited reports on the use of tolvaptan for syndrome of inappropriate antidiuretic hormone secretion (SIADH) in children. Managing serum sodium levels in SIADH patients during chemotherapy is often difficult because of the need for massive
Externí odkaz:
https://doaj.org/article/93ec06fae26e4db6bd8828b244565f9b
Autor:
Akio Matsumoto, Yoshifumi Shimada, Shuhei Kondo, Ken-ichi Mizuno, Mae Nakano, Daisuke Yamai, Masato Nakano, Hiromi Nyuzuki, Hajime Umezu, Toshifumi Wakai
Publikováno v:
Clinical Journal of Gastroenterology. 15:575-581
Gastric cancer is a Lynch syndrome (LS)-associated tumor, with the cumulative lifetime risk in LS patients estimated to be 5.8-13%. Hence, surveillance for gastric cancer is important for LS patients, especially in those with a family history of gast
Autor:
Keisuke Nagasaki, Noriko Matsui, Akihiko Saitoh, Hiromi Nyuzuki, Shinji Ito, Hideaki Matsui, Yohei Nitta
Publikováno v:
IBRO Reports, Vol 9, Iss, Pp 1-8 (2020)
IBRO Reports
IBRO Reports
ATP13A2 is the autosomal recessive causative gene for juvenile-onset Parkinson’s disease (PARK9, Parkinson’s disease 9), also known as Kufor-Rakeb syndrome. The disease is characterized by levodopa-responsive Parkinsonism, supranuclear gaze palsy
Autor:
Masakazu Kohda, Yoshimi Tokuzawa, Yoshihito Kishita, Hiromi Nyuzuki, Yohsuke Moriyama, Yosuke Mizuno, Tomoko Hirata, Yukiko Yatsuka, Yzumi Yamashita-Sugahara, Yutaka Nakachi, Hidemasa Kato, Akihiko Okuda, Shunsuke Tamaru, Nurun Nahar Borna, Kengo Banshoya, Toshiro Aigaki, Yukiko Sato-Miyata, Kohei Ohnuma, Tsutomu Suzuki, Asuteka Nagao, Hazuki Maehata, Fumihiko Matsuda, Koichiro Higasa, Masao Nagasaki, Jun Yasuda, Masayuki Yamamoto, Takuya Fushimi, Masaru Shimura, Keiko Kaiho-Ichimoto, Hiroko Harashima, Taro Yamazaki, Masato Mori, Kei Murayama, Akira Ohtake, Yasushi Okazaki
Publikováno v:
PLoS Genetics, Vol 12, Iss 1, p e1005679 (2016)
Mitochondrial disorders have the highest incidence among congenital metabolic disorders characterized by biochemical respiratory chain complex deficiencies. It occurs at a rate of 1 in 5,000 births, and has phenotypic and genetic heterogeneity. Mutat
Externí odkaz:
https://doaj.org/article/158105bef6724bed92af4dd632668bf3
Autor:
Masakazu Kohda, Kohei Ohnuma, Yuta Ohtsu, Satomi Takeo, Tsunaki Asano, Yoshihito Kishita, Toshiro Aigaki, Yasushi Okazaki, Kei Murayama, Akira Ohtake, Yukiko Sato-Miyata, Hiromi Nyuzuki
Publikováno v:
FEBS Letters. 594:2168-2181
Tetratricopeptide repeat protein 37 (TTC37) is a causative gene of trichohepatoenteric syndrome (THES). However, little is known about the pathogenesis of this disease. Here, we characterize the phenotype of a Drosophila model in which ski3, a homolo