Zobrazeno 1 - 10
of 48
pro vyhledávání: '"Kazuhiro Iwama"'
Autor:
Nozomu Kishio, Kazuhiro Iwama, Sayuri Nakanishi, Ryosuke Shindo, Masaki Yasui, Naoki Nicho, Atsushi Takahashi, Mana Kohara, Michisato Hirata, Takahiro Kemmotsu, Miki Tanoshima, Shuichi Ito
Publikováno v:
Human Genome Variation, Vol 11, Iss 1, Pp 1-3 (2024)
Abstract Nail–patella syndrome (NPS) is a hereditary disease caused by pathogenic variants in LMX1B and characterized by nail, limb, and renal symptoms. This study revealed a likely pathogenic LMX1B variant, NM_002316.4: c.723_726delinsC (p.Ser242d
Externí odkaz:
https://doaj.org/article/9ad4f991a0e44c83be14b3b162faedc1
Autor:
Chiho Ikenaga, Ryosuke Uchi, Fumihiko Ishida, Michisato Hirata, Kazuhiro Iwama, Shinichiro Ina, Yuko Tatsuno, Takahiro Kemmotsu, Jun Shibasaki, Shuichi Ito
Publikováno v:
American Journal of Perinatology Reports, Vol 14, Iss 01, Pp e1-e6 (2024)
Vitamin K deficiency bleeding (VKDB) in neonates is a significant disorder that causes skin, gastrointestinal, and intracranial hemorrhaging. Early-onset VKDB occurs within 24 hours of birth, and its prognosis is poor due to severe hemorrhage. The ca
Externí odkaz:
https://doaj.org/article/ecfdf3dab4b047daa0809f48862a2a5f
Autor:
Kazuo Kodama, MD, Hiromi Aoyama, MD, PhD, Yoshimi Murakami, MD, Jun-ichi Takanashi, MD, PhD, Eriko Koshimizu, PhD, Satoko Miyatake, MD, PhD, Kazuhiro Iwama, MD, PhD, Takeshi Mizuguchi, MD, PhD, Naomichi Matsumoto, MD, PhD, Taku Omata, MD, PhD
Publikováno v:
Radiology Case Reports, Vol 18, Iss 3, Pp 1217-1220 (2023)
Leukoencephalopathy with calcifications and cysts is a rare autosomal recessive genetic disorder neuroradiologically characterized by intracranial calcification, cerebral white matter disease, and multiple cysts. Although SNORD118 genes have recently
Externí odkaz:
https://doaj.org/article/b22a1a9a07024e1ead5eaf1d2c102d44
Autor:
Syun Yoshida, Masano Amamoto, Tomoyuki Takahashi, Ichiro Tomita, Kotaro Yuge, Munetsugu Hara, Kazuhiro Iwama, Naomichi Matsumoto, Toyojiro Matsuishi
Publikováno v:
Clinical Case Reports, Vol 10, Iss 5, Pp n/a-n/a (2022)
Abstract Intractable epilepsy was successfully controlled using perampanel, an α‐amino‐3‐hydroxy‐5‐methyl‐4‐isoxazole propionic acid‐type glutamate receptor antagonist, in a 27‐year‐old woman who presented with a Rett syndrome‐
Externí odkaz:
https://doaj.org/article/e32d6956f67b439db0e0e901d66c508a
Autor:
Nodoka Hinokuma, Mitsuko Nakashima, Hideyuki Asai, Kazuyuki Nakamura, Shinjiro Akaboshi, Masataka Fukuoka, Masami Togawa, Shingo Oana, Koyo Ohno, Mariko Kasai, Chikako Ogawa, Kazuna Yamamoto, Kiyohito Okumiya, Pin Fee Chong, Ryutaro Kira, Shumpei Uchino, Tetsuhiro Fukuyama, Tomoe Shinagawa, Yohane Miyata, Yuichi Abe, Akira Hojo, Kozue Kobayashi, Yoshihiro Maegaki, Nobutsune Ishikawa, Hiroko Ikeda, Masano Amamoto, Takeshi Mizuguchi, Kazuhiro Iwama, Toshiyuki Itai, Satoko Miyatake, Hirotomo Saitsu, Naomichi Matsumoto, Mitsuhiro Kato
Publikováno v:
Epilepsia Open, Vol 5, Iss 3, Pp 442-450 (2020)
Abstract Objective To elucidate the genetic background and genotype‐phenotype correlations for epilepsy with myoclonic‐atonic seizures, also known as myoclonic‐astatic epilepsy (MAE) or Doose syndrome. Methods We collected clinical information
Externí odkaz:
https://doaj.org/article/17efe75a57e94761b422dbd148928d15
Autor:
Atsushi Takata, Mitsuko Nakashima, Hirotomo Saitsu, Takeshi Mizuguchi, Satomi Mitsuhashi, Yukitoshi Takahashi, Nobuhiko Okamoto, Hitoshi Osaka, Kazuyuki Nakamura, Jun Tohyama, Kazuhiro Haginoya, Saoko Takeshita, Ichiro Kuki, Tohru Okanishi, Tomohide Goto, Masayuki Sasaki, Yasunari Sakai, Noriko Miyake, Satoko Miyatake, Naomi Tsuchida, Kazuhiro Iwama, Gaku Minase, Futoshi Sekiguchi, Atsushi Fujita, Eri Imagawa, Eriko Koshimizu, Yuri Uchiyama, Kohei Hamanaka, Chihiro Ohba, Toshiyuki Itai, Hiromi Aoi, Ken Saida, Tomohiro Sakaguchi, Kouhei Den, Rina Takahashi, Hiroko Ikeda, Tokito Yamaguchi, Kazuki Tsukamoto, Shinsaku Yoshitomi, Taikan Oboshi, Katsumi Imai, Tomokazu Kimizu, Yu Kobayashi, Masaya Kubota, Hirofumi Kashii, Shimpei Baba, Mizue Iai, Ryutaro Kira, Munetsugu Hara, Masayasu Ohta, Yohane Miyata, Rie Miyata, Jun-ichi Takanashi, Jun Matsui, Kenji Yokochi, Masayuki Shimono, Masano Amamoto, Rumiko Takayama, Shinichi Hirabayashi, Kaori Aiba, Hiroshi Matsumoto, Shin Nabatame, Takashi Shiihara, Mitsuhiro Kato, Naomichi Matsumoto
Publikováno v:
Nature Communications, Vol 10, Iss 1, Pp 1-14 (2019)
Many causative genes are known for epileptic or developmental and epileptic encephalopathies (EE/DEE) yet a genetic diagnosis cannot be made for many patients. Here, the authors analyse whole exome sequencing data from a Japanese case−control cohor
Externí odkaz:
https://doaj.org/article/16a9920cc8234e80bb6236676c9ac817
Autor:
Takeshi Mizuguchi, Kazuhiro Iwama, Kazuhiro Ogata, Noriko Miyake, Kohei Hamanaka, Atsushi Fujita, Ken Saida, Satoko Miyatake, Masamune Sakamoto, Eriko Koshimizu, Hiroki Maeda, Junya Tamaoki, Makoto Kobayashi, Masayuki Sasaki, Toru Sengoku, Muzhirah Haniffa, Haruna Yokoyama, Naomichi Matsumoto, Futoshi Sekiguchi, Masahiro Kikuchi
Publikováno v:
Clinical Genetics. 100:722-730
Cerebellar ataxia is a genetically heterogeneous disorder. GEMIN5 encoding an RNA-binding protein of the survival of motor neuron complex, is essential for small nuclear ribonucleoprotein biogenesis, and it was recently reported that biallelic loss-o
Autor:
Kazuhiro Ogata, Naomi Tsuchida, Mizue Iai, Kazunori Sasaki, Atsushi Fujita, Atsushi Sugie, Takeshi Mizuguchi, Masataka Taguri, Naomichi Matsumoto, Satoko Miyatake, Eriko Koshimizu, Kohei Hamanaka, Nobuhiko Okamoto, Semra Gürsoy, Kazuhiro Iwama, Tetsuaki Kimura, Tayfun Cinleti, Shuuichi Ito, Hidehisa Takahashi, Yuri Uchiyama, Atsushi Suzuki, Noriko Miyake, Masamune Sakamoto, Yohei Nitta, Toru Sengoku
Publikováno v:
Human Molecular Genetics. 31:69-81
An optimal Golgi transport system is important for mammalian cells. The adenosine diphosphate (ADP) ribosylation factors (ARF) are key proteins for regulating cargo sorting at the Golgi network. In this family, ARF3 mainly works at the trans-Golgi ne
Autor:
Rie Seyama, Yuri Uchiyama, José Ricard Magliocco Ceroni, Veronica Eun Hue Kim, Isabel Furquim, Rachel Sayuri Honjo, Matheus Augusto Araujo Castro, Lucas Vieira Lacerda Pires, Hiromi Aoi, Kazuhiro Iwama, Kohei Hamanaka, Atsushi Fujita, Naomi Tsuchida, Eriko Koshimizu, Kazuharu Misawa, Satoko Miyatake, Takeshi Mizuguchi, Shintaro Makino, Atsuo Itakura, Débora R. Bertola, Chong Ae Kim, Naomichi Matsumoto
Publikováno v:
Genomics. 114(5)
Recent studies suggest that transcript isoforms significantly overlap (approximately 60%) between brain tissue and Epstein-Barr virus-transformed lymphoblastoid cell lines (LCLs). Interestingly, 14 cohesion-related genes with variants that cause Corn
Autor:
Masamune Sakamoto, Kazuhiro Iwama, Masayuki Sasaki, Akihiko Ishiyama, Hirofumi Komaki, Takashi Saito, Eri Takeshita, Yuko Shimizu-Motohashi, Kazuhiro Haginoya, Tomoko Kobayashi, Tomohide Goto, Yu Tsuyusaki, Mizue Iai, Kenji Kurosawa, Hitoshi Osaka, Jun Tohyama, Yu Kobayashi, Nobuhiko Okamoto, Yume Suzuki, Satoko Kumada, Kenji Inoue, Hideaki Mashimo, Atsuko Arisaka, Ichiro Kuki, Harumi Saijo, Kenji Yokochi, Mitsuhiro Kato, Yuji Inaba, Yuko Gomi, Shinji Saitoh, Kentaro Shirai, Masafumi Morimoto, Yuishin Izumi, Yoriko Watanabe, Shin-ichiro Nagamitsu, Yasunari Sakai, Shinobu Fukumura, Kazuhiro Muramatsu, Tomomi Ogata, Keitaro Yamada, Keiko Ishigaki, Kyoko Hirasawa, Konomi Shimoda, Manami Akasaka, Kosuke Kohashi, Takafumi Sakakibara, Masashi Ikuno, Noriko Sugino, Takahiro Yonekawa, Semra Gürsoy, Tayfun Cinleti, Chong Ae Kim, Keng Wee Teik, Chan Mei Yan, Muzhirah Haniffa, Chihiro Ohba, Shuuichi Ito, Hirotomo Saitsu, Ken Saida, Naomi Tsuchida, Yuri Uchiyama, Eriko Koshimizu, Atsushi Fujita, Kohei Hamanaka, Kazuharu Misawa, Satoko Miyatake, Takeshi Mizuguchi, Noriko Miyake, Naomichi Matsumoto
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics. 24(12)
Cerebellar hypoplasia and atrophy (CBHA) in children is an extremely heterogeneous group of disorders, but few comprehensive genetic studies have been reported. Comprehensive genetic analysis of CBHA patients may help differentiating atrophy and hypo