Zobrazeno 1 - 10
of 121
pro vyhledávání: '"Naomichi Matsumoto"'
Autor:
Toshifumi Suzuki, Hitoshi Osaka, Noriko Miyake, Atsushi Fujita, Yuri Uchiyama, Rie Seyama, Eriko Koshimizu, Satoko Miyatake, Takeshi Mizuguchi, Satoru Takeda, Naomichi Matsumoto
Publikováno v:
Human Genome Variation. 9
We report on a patient with a distal 16.4-Mb duplication at 2q36.3-qter, who presented with severe intellectual disability, microcephaly, brachycephaly, prominent forehead, hypertelorism, prominent eyes, thin upper lip, and progenia. Copy number anal
Autor:
Satoko Miyatake, Eriko Koshimizu, Atsushi Fujita, Hiroshi Doi, Masaki Okubo, Taishi Wada, Kohei Hamanaka, Naohisa Ueda, Hitaru Kishida, Gaku Minase, Atsuhiro Matsuno, Minori Kodaira, Katsuhisa Ogata, Rumiko Kato, Atsuhiko Sugiyama, Ayako Sasaki, Takabumi Miyama, Mai Satoh, Yuri Uchiyama, Naomi Tsuchida, Haruka Hamanoue, Kazuharu Misawa, Kiyoshi Hayasaka, Yoshiki Sekijima, Hiroaki Adachi, Kunihiro Yoshida, Fumiaki Tanaka, Takeshi Mizuguchi, Naomichi Matsumoto
Publikováno v:
npj Genomic Medicine. 7
We developed a diagnostic method for repeat expansion diseases using a long-read sequencer to improve currently available, low throughput diagnostic methods. We employed the real-time target enrichment system of the nanopore GridION sequencer using t
Autor:
Karin Kojima, Takahito Wada, Hiroko Shimbo, Takahiro Ikeda, Eriko F. Jimbo, Hirotomo Saitsu, Naomichi Matsumoto, Takanori Yamagata
Publikováno v:
Human Genome Variation. 9
The ATRX variant c.21-1G>A was detected by an exome analysis of a patient with Cockayne syndrome without alpha thalassemia X-linked intellectual disability syndrome (ATR-XS). In addition, variants in ERCC6 were detected. ATRX c.21-1G>A is localized a
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:
Ying Sheng, Yuri Uchiyama, Clara Hammarström, Ane-Marte Øye, Jan Cezary Sitek, Paul Hoff Backe, Hanne Sagsveen Hjorthaug, Anne M. Comi, Kaja Kristine Selmer, Olav Sundnes, Jonathan Pevsner, Magnus Dehli Vigeland, Roar Fjær, Katarzyna Marciniak, Naomichi Matsumoto, Guttorm Haraldsen, Johanna Hol Fosse, Tor Espen Stav-Noraas
Publikováno v:
Human Molecular Genetics
Sturge–Weber syndrome (SWS) is a neurocutaneous disorder characterized by vascular malformations affecting skin, eyes and leptomeninges of the brain, which can lead to glaucoma, seizures and intellectual disability. The discovery of a disease-causi
Autor:
Nguyen Thuy Duong, Luong Thi Lan Anh, Nguyen Huu Sau, Nguyen Bao Anh, Noriko Miyake, Nong Van Hai, Naomichi Matsumoto
Publikováno v:
Human Genome Variation. 9
Autor:
Toshiyuki Itai, Hirotomo Saitsu, Nobutaka Hattori, Taku Hatano, Satoko Miyatake, Naomichi Matsumoto, Yusuke Aoki, Kazuya Itomi, Atsuko Ohno, Harushi Mori
Publikováno v:
Human Genome Variation, Vol 8, Iss 1, Pp 1-4 (2021)
Human Genome Variation
Human Genome Variation
We describe two patients with NSD1 deletion, who presented with early-onset, or recurrent cerebrovascular diseases (CVDs). A 39-year-old female showed developmental delay and abnormal gait in infancy, and developed slowly-progressive intellectual dis
Autor:
Tetsuya Okazaki, Tatsuya Kawaguchi, Yusuke Saiki, Chisako Aoki, Noriko Kasagi, Kaori Adachi, Ken Saida, Naomichi Matsumoto, Eiji Nanba, Yoshihiro Maegaki
Publikováno v:
Human Genome Variation. 9
There is only one report of patients with developmental delay due to a 6q16.1 deletion that does not contain the SIM1 gene. A 3-year-old female showed strabismus, cleft soft palate, hypotonia at birth, and global developmental delay. Exome sequencing
Autor:
Nguyen Thuy Duong, Luong Thi Lan Anh, Nguyen Huu Sau, Nguyen Bao Anh, Noriko Miyake, Nong Van Hai, Naomichi Matsumoto
Publikováno v:
Human Genome Variation. 9
We present a homozygous missense mutation in the COL7A1 gene (NM_000094.4: c.6262G>A, p.G2088R) in a case of inversa recessive dystrophic epidermolysis bullosa (RDEB-I) from a nonconsanguineous Vietnamese family. Although a heterozygous form of this
Autor:
Kohei Hamanaka, Noriko Miyake, Takeshi Mizuguchi, Satoko Miyatake, Yuri Uchiyama, Naomi Tsuchida, Futoshi Sekiguchi, Satomi Mitsuhashi, Yoshinori Tsurusaki, Mitsuko Nakashima, Hirotomo Saitsu, Kohei Yamada, Masamune Sakamoto, Hiromi Fukuda, Sachiko Ohori, Ken Saida, Toshiyuki Itai, Yoshiteru Azuma, Eriko Koshimizu, Atsushi Fujita, Biray Erturk, Yoko Hiraki, Gaik-Siew Ch’ng, Mitsuhiro Kato, Nobuhiko Okamoto, Atsushi Takata, Naomichi Matsumoto
Publikováno v:
Genome Medicine. 14
Background Previous large-scale studies of de novo variants identified a number of genes associated with neurodevelopmental disorders (NDDs); however, it was also predicted that many NDD-associated genes await discovery. Such genes can be discovered