Zobrazeno 1 - 10
of 93
pro vyhledávání: '"Yasutsugu Chinen"'
Autor:
Yasutsugu Chinen, Sadao Nakamura, Kumiko Yanagi, Takuya Kaneshi, Hideki Goya, Tomohide Yoshida, Kazuhito Satou, Tadashi Kaname, Kenji Naritomi, Koichi Nakanishi
Publikováno v:
Human Genome Variation, Vol 9, Iss 1, Pp 1-4 (2022)
Abstract We describe the case of a male patient with orofaciodigital (OFD) syndrome type XVI with a homozygous variant of TMEM107 (p.Phe106del) and the additional findings of tibial dysplasia, which is a pivotal finding of OFD syndrome type IV. His f
Externí odkaz:
https://doaj.org/article/d944f351a5164a32a378e289fbbd4bb4
Autor:
Tomoko Yonamine, Tadashi Kaname, Yasutsugu Chinen, Kouichi Tamashiro, Noritake Kosuge, Seiichi Saito
Publikováno v:
Urology Case Reports, Vol 30, Iss , Pp - (2020)
Hereditary leiomyomatosis and renal cell cancer is a rare, inherited disease caused by mutations in the fumarate hydratase gene. It is characterized by cutaneous leiomyomas, uterine leiomyomas, and/or renal cell cancer. We present the case of a 42-ye
Externí odkaz:
https://doaj.org/article/4838ca9886b7431ab5cca79495d10f6e
Autor:
Yasutsugu Chinen, Sadao Nakamura, Kunihito Tamashiro, Osamu Sakamoto, Kyoko Tashiro, Takahiro Inokuchi, Koichi Nakanishi
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 11, Iss C, Pp 2-5 (2017)
Isovaleric acidemia (IVA) is an organic acid disease caused by a deficiency of isovaleryl-CoA dehydrogenase. Deficiency of this enzyme leads to accumulation of organic acids, such as isovalerylcarnitine and isovalerylglycine. The proposed IVA treatme
Externí odkaz:
https://doaj.org/article/fc626dc59ca3444bb33f9ceec1caea5b
Autor:
Shin Hayashi, Daniela Tiaki Uehara, Kousuke Tanimoto, Seiji Mizuno, Yasutsugu Chinen, Shinobu Fukumura, Jun-Ichi Takanashi, Hitoshi Osaka, Nobuhiko Okamoto, Johji Inazawa
Publikováno v:
PLoS ONE, Vol 12, Iss 8, p e0181791 (2017)
The CASK gene (Xp11.4) is highly expressed in the mammalian nervous system and plays several roles in neural development and synaptic function. Loss-of-function mutations of CASK are associated with intellectual disability and microcephaly with ponti
Externí odkaz:
https://doaj.org/article/361ca232e09d4b4c9d6b9d2bc565142d
Autor:
Sho Miyamoto, Edward Ntege, Yasutsugu Chinen, Takahiro Goto, Jumpei Shirakawa, Shimpei Goto, Toshihiro Kawano, Yusuke Shimizu, Koichi Nakanishi, Hiroyuki Nakamura
Publikováno v:
Biomedical Reports. 17
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b7575ce80acf8859312b82e63053d0fc
https://doi.org/10.3892/br.2022.1547
https://doi.org/10.3892/br.2022.1547
Autor:
Yasutsugu Chinen, Takeshi Higa, Shunji Tomatsu, Yasuyuki Suzuki, Tadao Orii, Nobuyuki Hyakuna
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 1, Iss C, Pp 31-41 (2014)
Mucopolysaccharidosis IVA (MPS IVA) is one of the lysosomal storage diseases. It is caused by the deficiency of N-acetylgalactosamine-6-sulfate sulfatase. Deficiency of this enzyme leads to accumulation of the specific glycosaminoglycans keratan sulf
Externí odkaz:
https://doaj.org/article/c47ca6202e7e4d3eb799389e5208abbe
Autor:
Motoko Kamiya, Noriko Nakayama, Tadashi Kaname, Sadao Nakamura, Kumiko Yanagi, Yasutsugu Chinen, Kenji Naritomi, Koichi Nakanishi, Mami Nakayashiro
Publikováno v:
Human Genome Variation, Vol 7, Iss 1, Pp 1-4 (2020)
Carnitine-acylcarnitine translocase (CACT) deficiency is a fatty acid ß-oxidation disorder of the carnitine shuttle in mitochondria, with a high mortality rate in childhood. We evaluated three patients, including two siblings, with neonatal-onset CA
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d800265aa373c6d0d42dd3bb70932cf9
http://hdl.handle.net/20.500.12000/47023
http://hdl.handle.net/20.500.12000/47023
Autor:
Noritake Kosuge, Seiichi Saito, Yasutsugu Chinen, Tadashi Kaname, Kouichi Tamashiro, Tomoko Yonamine
Publikováno v:
Urology Case Reports
Urology Case Reports, Vol 30, Iss, Pp-(2020)
Urology Case Reports, Vol 30, Iss, Pp-(2020)
Hereditary leiomyomatosis and renal cell cancer is a rare, inherited disease caused by mutations in the fumarate hydratase gene. It is characterized by cutaneous leiomyomas, uterine leiomyomas, and/or renal cell cancer. We present the case of a 42-ye
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::47ff7db831e881d16d8701e0f7b8e4fa
http://europepmc.org/articles/PMC7052518
http://europepmc.org/articles/PMC7052518
Autor:
Tadashi Kaname, Koichi Nakanishi, Kenji Naritomi, Yasutsugu Chinen, Kumiko Yanagi, Shin Hayashi, Akira Ganaha, Sadao Nakamura, Johji Inazawa
Publikováno v:
Clinical Case Reports
A Japanese boy aged 7 years with Bainbridge-Ropers syndrome (BRPS) had a prominent domed forehead without metric ridge, mild prominence of the Sylvian fissure with bitemporal hollowing, and a heterozygous de novo novel variant "p.P1010Lfs*14" in ASXL
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::69086bc9dba7d9f56286e5a70566d627
https://doi.org/10.1002/ccr3.1361
https://doi.org/10.1002/ccr3.1361
Autor:
Shunsuke Kondo, Yasutsugu Chinen, Ayano Shinjou, Mikio Suzuki, Akira Ganaha, Kumiko Yanagi, Teruyuki Higa, Tadashi Kaname
Publikováno v:
American Journal of Medical Genetics Part A. 173:2826-2830
In this study, we describe a Japanese family with progressive hearing loss and macrothrombocytopenia. Using next-generation and Sanger sequencing analyses, we identified a heterozygous variant in exon 27 of the DIAPH1 gene (NM_005219), c.3637C>T, p.R
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1e5851d7804a898357f27230c9e857c7
https://doi.org/10.1002/ajmg.a.38411
https://doi.org/10.1002/ajmg.a.38411