Zobrazeno 1 - 10
of 37
pro vyhledávání: '"Mina, Nakama"'
Publikováno v:
Human Genome Variation, Vol 11, Iss 1, Pp 1-3 (2024)
Abstract Congenital contractual arachnodactyly (CCA) is a genetic connective tissue disorder that is characterized by arachnodactyly, kyphoscoliosis, marfanoid habitus, and crumpled ears. We report a case of a boy with suspected Marfan syndrome. Gene
Externí odkaz:
https://doaj.org/article/eaccd6e4960b48418367201097fee6d4
Autor:
Yasuhiko Ago, Hideo Sugie, Tokiko Fukuda, Hiroki Otsuka, Hideo Sasai, Mina Nakama, Elsayed Abdelkreem, Toshiyuki Fukao
Publikováno v:
JIMD Reports, Vol 48, Iss 1, Pp 15-18 (2019)
Abstract We describe the case of a 4‐year‐old boy who suffered from frequent ketotic hypoglycemia (KH) but did not have hepatomegaly or elevated liver enzyme levels. However, the patient was found to have a rare variant in the PHKA2 gene. To dete
Externí odkaz:
https://doaj.org/article/12f8ec4428a547d897c7fdbd0e46676c
Autor:
Nanako Omichi, Yoshihito Kishita, Mina Nakama, Hideo Sasai, Atsushi Terazawa, Emiko Kobayashi, Takuya Fushimi, Yohei Sugiyama, Keiko Ichimoto, Kazuhiro R. Nitta, Yukiko Yatsuka, Akira Ohtake, Kei Murayama, Yasushi Okazaki
Publikováno v:
Journal of Human Genetics.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ba38c2169d2671f2f8ac341306c31a5d
https://doi.org/10.1038/s10038-023-01156-y
https://doi.org/10.1038/s10038-023-01156-y
Autor:
Mina Nakama1,2 mnakama@gifu-u.ac.jp, Hiroki Otsuka1,2, Hideo Sasai1,2, Hidenori Ohnishi1,2, Ken-ichirou Morishige1,3
Publikováno v:
All Life. 2021, Vol. 14 Issue 1, p869-873. 5p.
Publikováno v:
Birth Defects Research. 112:1253-1259
Background Although maternal MeHg-exposure causes hydrocephalus in the offspring of mice, its pathogenesis has not been fully explained. In the present study, we examined the issue of how maternal MeHg-exposure in mice affects ependymal ciliary movem
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5d128433b78034a6f6ab4510bffd43b0
https://doi.org/10.1002/bdr2.1750
https://doi.org/10.1002/bdr2.1750
Autor:
Toshiyuki Yamamoto, Toshiyuki Fukao, Michio Ozeki, Riko Kawasaki, Mina Nakama, Hisashi Iwata, Akifumi Nozawa
Publikováno v:
Journal of Pediatric Hematology/Oncology. 42:307-309
Pleuropulmonary blastoma (PPB) is a rare, progressive, and aggressive malignant intrathoracic tumor observed during childhood. Mutations in the DICER1 gene have been considered a major etiologic factor of PPB and cause a variety of tumor types in chi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b6bd4ce9b840dce7652d59a1b9211483
https://doi.org/10.1097/mph.0000000000001392
https://doi.org/10.1097/mph.0000000000001392
Autor:
Motohide Kaneda, Sanghyuk Kim, Mashu Futagawa, Junko Tatsumi-Miyajima, Norihito Kawashita, Miho Takeshita, Kazuo Tamura, Mina Nakama
Publikováno v:
International Journal of Clinical Oncology. 24:999-1011
Lynch syndrome is a cancer-predisposing syndrome inherited in an autosomal-dominant manner, wherein colon cancer and endometrial cancer develop frequently in the family, it results from a loss-of-function mutation in one of four different genes (MLH1
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e8a331f1dd12102e40dd49a062976348
https://doi.org/10.1007/s10147-019-01494-y
https://doi.org/10.1007/s10147-019-01494-y
Perampanel Inhibits Neuroblastoma Cell Proliferation Through Down-regulation of AKT and ERK Pathways
Autor:
Michio Ozeki, Shiho Yasue, Toshiyuki Fukao, Norio Kawamoto, Hidenori Ohnishi, Akifumi Nozawa, Mina Nakama, Saori Endo, Mikako Matsuoka
Publikováno v:
Anticancer Research. 39:3595-3599
BACKGROUND/AIM Activation of AKT serine/ threonine kinase (AKT) predicts poor outcome in neuroblastoma, which highlights the potential of the AKT pathway as a promising target for neuroblastoma treatment. Several studies reported that blockade of α-
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1c056ad531f32fff00105c0e822c2822
https://doi.org/10.21873/anticanres.13506
https://doi.org/10.21873/anticanres.13506
Autor:
Toshiyuki Fukao, Tokiko Fukuda, Mina Nakama, Elsayed Abdelkreem, Hideo Sasai, Hideo Sugie, Yasuhiko Ago, Hiroki Otsuka
Publikováno v:
JIMD Reports
JIMD Reports, Vol 48, Iss 1, Pp 15-18 (2019)
JIMD Reports, Vol 48, Iss 1, Pp 15-18 (2019)
We describe the case of a 4‐year‐old boy who suffered from frequent ketotic hypoglycemia (KH) but did not have hepatomegaly or elevated liver enzyme levels. However, the patient was found to have a rare variant in the PHKA2 gene. To detect the un
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b87a73487d977863ab5e857f9bb1919a
http://europepmc.org/articles/PMC6606978
http://europepmc.org/articles/PMC6606978
Autor:
Hidenori Ohnishi, Michio Ozeki, Mina Nakama, Takahiro Yamamoto, Nana Kawashima, Hiroki Otsuka, Yukihiro Esaka, Norio Kawamoto, Yasuhiko Ago, Hideo Sasai, Kazuo Kubota, Hideki Matsumoto
Publikováno v:
Journal of inherited metabolic diseaseREFERENCES. 44(5)
The loss-of-function variants of the human asparagine synthetase (ASNS) gene cause asparagine synthetase deficiency (ASNSD). Diagnosis of ASNSD requires genetic tests because a specific biochemical diagnostic for ASNSD is not available. There are a f
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3e0f83be1d0d377cc3713207635866a3
https://pubmed.ncbi.nlm.nih.gov/34080208
https://pubmed.ncbi.nlm.nih.gov/34080208