Zobrazeno 1 - 10
of 97
pro vyhledávání: '"Yoshio Makita"'
Autor:
Hiroki Tanabe, Masami Ijiri, Kenji Takahashi, Honoka Sasagawa, Tomomi Kamanaka, Shohei Kuroda, Hiroki Sato, Takeo Sarashina, Yusuke Mizukami, Yoshio Makita, Toshikatsu Okumura
Publikováno v:
Human Genome Variation, Vol 11, Iss 1, Pp 1-4 (2024)
Abstract A young patient diagnosed with advanced colon cancer and liver metastasis was found to have familial adenomatous polyposis (FAP) through comprehensive genomic analysis. Whole-genome array comparative genomic hybridization (aCGH) revealed ger
Externí odkaz:
https://doaj.org/article/012b425413fc457087222a2d629e6895
Autor:
Rina Imanishi, Kouichi Nakau, Sorachi Shimada, Hideharu Oka, Ryo Takeguchi, Ryosuke Tanaka, Tatsutoshi Sugiyama, Mitsumaro Nii, Toshio Okamoto, Ken Nagaya, Yoshio Makita, Kumiko Yanagi, Tadashi Kaname, Satoru Takahashi
Publikováno v:
Human Genome Variation, Vol 10, Iss 1, Pp 1-3 (2023)
Abstract Pathogenic variants of HECW2 have been reported in cases of neurodevelopmental disorder with hypotonia, seizures, and absent language (NDHSAL; OMIM #617268). A novel HECW2 variant (NM_001348768.2:c.4343 T > C,p.Leu1448Ser) was identified in
Externí odkaz:
https://doaj.org/article/759a403f14234af1881497e323c091ca
Autor:
Satomi Okano, Yoshio Makita, Akie Miyamoto, Genya Taketazu, Kayano Kimura, Ikue Fukuda, Hajime Tanaka, Kumiko Yanagi, Tadashi Kaname
Publikováno v:
Human Genome Variation, Vol 10, Iss 1, Pp 1-4 (2023)
Abstract The X-linked human glutamate receptor subunit 3 (GRIA3) gene (MIM *305915, Xq25) encodes ionotropic α amino-3-hydroxy-5-methyl-4-isoxazole propionate (AMPA)-type glutamate receptor subunit 3, which mediates postsynaptic neurotransmission. V
Externí odkaz:
https://doaj.org/article/432685503f354b80804511cf5fd6f651
Publikováno v:
Journal of Medical Case Reports, Vol 16, Iss 1, Pp 1-5 (2022)
Abstract Background Wisconsin syndrome is a congenital anomaly caused by a 3q interstitial deletion. It is associated with characteristic facies and developmental delays. Only 33 cases with a deletion estimated to be in the associated region 3q25 hav
Externí odkaz:
https://doaj.org/article/ce2944a4c956480298f329c9ac9ae1ad
Autor:
Ryosuke Tanaka, Ryo Takeguchi, Mami Kuroda, Nao Suzuki, Yoshio Makita, Kumiko Yanagi, Tadashi Kaname, Satoru Takahashi
Publikováno v:
Human Genome Variation, Vol 9, Iss 1, Pp 1-3 (2022)
Abstract Leigh syndrome is the most genetically heterogenous phenotype of mitochondrial disease. We describe a patient with Leigh syndrome whose diagnosis had not been confirmed because of normal metabolic screening results at the initial presentatio
Externí odkaz:
https://doaj.org/article/7459aae1a95642c9b3b6c6719db94e34
Publikováno v:
Human Genome Variation, Vol 9, Iss 1, Pp 1-3 (2022)
Abstract Medium-chain acyl-coenzyme A dehydrogenase (MCAD) deficiency is an autosomal recessive disease caused by biallelic pathogenic ACADM variants. We report a case of an asymptomatic Japanese girl with MCAD deficiency caused by compound heterozyg
Externí odkaz:
https://doaj.org/article/b69016dfc72140cbba16d2481a825ad5
Autor:
Hiroki Sato, Takeshi Saito, Hiroshi Horii, Mami Kajiura, Noriaki Kikuchi, Nobuhisa Takada, Koichi Taguchi, Mika Yoshida, Masakazu Hasegawa, Hiroyuki Taguchi, Yukinori Yoshida, Katsuyoshi Ando, Mikihiro Fujiya, Yuko Omori, Thomas Hank, Andrew S. Liss, Manish K. Gala, Yoshio Makita, Yusuke Ono, Yusuke Mizukami, Toshikatsu Okumura
Publikováno v:
Frontiers in Genetics, Vol 12 (2021)
Neuroendocrine carcinoma (NEC) of the esophagogastric junction (EGJ) is a rare disease with no established treatments. Herein, we describe a case of recurrent squamous cell carcinoma (SCC) after achieving complete response to chemotherapy against NEC
Externí odkaz:
https://doaj.org/article/0b2a55857f814c65b6dd53c515993a2e
Autor:
Yuichi Akaba, Ryo Takeguchi, Ryosuke Tanaka, Yoshio Makita, Takashi Kimura, Kumiko Yanagi, Tadashi Kaname, Ichizo Nishino, Satoru Takahashi
Publikováno v:
Journal of clinical neuromuscular disease. 24(1)
Myofibrillar myopathy is a clinically and genetically heterogeneous group of muscle disorders characterized by myofibrillar degeneration. Bcl-2-associated athanogene 3 (BAG3)-related myopathy is the rarest form of myofibrillar myopathy. Patients with
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::99b7e55d984d30a1e3b31c9e62e59390
https://pubmed.ncbi.nlm.nih.gov/36005473
https://pubmed.ncbi.nlm.nih.gov/36005473
Autor:
Tsutomu Takahashi, Yoshio Makita, Tomonobu Hasegawa, Maki Fukami, Hironori Shibata, Noboru Uchida, Tomohiro Ishii, Takuro Kojima, Takuma Ohnishi
Publikováno v:
Clinical Pediatric Endocrinology
The overexpression of imprinted genes on chromosome 6q24 causes 6q24-related transient neonatal diabetes mellitus (6q24-TNDM). Most cases of 6q24-TNDM show transient diabetes mellitus (DM) during the neonatal period, followed by relapse after puberty
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fbe7384fbfafc7c2cb36367814145ee8
http://europepmc.org/articles/PMC7534527
http://europepmc.org/articles/PMC7534527
Autor:
Ryuji Higashita, Shinsuke Kikuchi, Tetsuro Uchida, Tadashi Kaname, Yoshio Makita, Kumiko Yanagi, Tsunehiro Shintani, Mitsuaki Sadahiro, Atsushi Yamashita, Nobuyoshi Azuma
Publikováno v:
Circulation Journal. 84:1183-1188
Background NT5Egenetic mutations are known to result in calcification of joints and arteries (CALJA), and worldwide, 14 patients from 7 families have been reported.Methods and Results:A total of 5 patients from 2 independent families with CALJA were
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::28eb1c2476cbd3220e9628c65e3bd345
https://doi.org/10.1253/circj.cj-20-0153
https://doi.org/10.1253/circj.cj-20-0153