Works by Mitsuhashi, Satomi

Results: 50

Comprehensive analysis for genetic diagnosis of Dystrophinopathies in Japan.

Published in:

2017

By:

Mariko Okubo;
Kanako Goto;
Hirofumi Komaki;
Harumasa Nakamura;
Madoka Mori-Yoshimura;
Yukiko K. Hayashi;
Satomi Mitsuhashi;
Satoru Noguchi;
En Kimura;
Ichizo Nishino;
Okubo, Mariko;
Goto, Kanako;
Komaki, Hirofumi;
Nakamura, Harumasa;
Mori-Yoshimura, Madoka;
Hayashi, Yukiko K;
Mitsuhashi, Satomi;
Noguchi, Satoru;
Kimura, En;
Nishino, Ichizo

Publication type:

journal article

Tandem-genotypes: robust detection of tandem repeat expansions from long DNA reads.

Published in:

Genome Biology, 2019, v. 20, n. 1, p. N.PAG, doi. 10.1186/s13059-019-1667-6

By:

Mitsuhashi, Satomi;
Frith, Martin C.;
Mizuguchi, Takeshi;
Miyatake, Satoko;
Toyota, Tomoko;
Adachi, Hiroaki;
Oma, Yoko;
Kino, Yoshihiro;
Mitsuhashi, Hiroaki;
Matsumoto, Naomichi

Publication type:

Article

Biallelic structural variations within FGF12 detected by long-read sequencing in epilepsy.

Published in:

Life Science Alliance, 2023, v. 6, n. 8, p. 1, doi. 10.26508/lsa.202302025

By:

Sachiko Ohori;
Akihiko Miyauchi;
Hitoshi Osaka;
Lourenco, Charles Marques;
Naohiro Arakaki;
Toru Sengoku;
Kazuhiro Ogata;
Rachel Sayuri Honjo;
Chong Ae Kim;
Satomi Mitsuhashi;
Frith, Martin C.;
Rie Seyama;
Naomi Tsuchida;
Yuri Uchiyama;
Eriko Koshimizu;
Kohei Hamanaka;
Kazuharu Misawa;
Satoko Miyatake;
Takeshi Mizuguchi;
Kuniaki Saito

Publication type:

Article

Targeted nanopore sequencing using the Flongle device to identify mitochondrial DNA variants.

Published in:

Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-75749-8

By:

Akamatsu, Shintaro;
Mitsuhashi, Satomi;
Soga, Kaima;
Mizukami, Heisuke;
Shiraishi, Makoto;
Frith, Martin C;
Yamano, Yoshihisa

Publication type:

Article

Comprehensive genomic analysis reveals dynamic evolution of endogenous retroviruses that code for retroviral-like protein domains.

Published in:

Mobile DNA, 2020, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13100-020-00224-w

By:

Ueda, Mahoko Takahashi;
Kryukov, Kirill;
Mitsuhashi, Satomi;
Mitsuhashi, Hiroaki;
Imanishi, Tadashi;
Nakagawa, So

Publication type:

Article

GRIN2D variants in three cases of developmental and epileptic encephalopathy.

Published in:

Clinical Genetics, 2018, v. 94, n. 6, p. 538, doi. 10.1111/cge.13454

By:

Tsuchida, Naomi;
Hamada, Keisuke;
Shiina, Masaaki;
Kato, Mitsuhiro;
Kobayashi, Yu;
Tohyama, Jun;
Kimura, Kazue;
Hoshino, Kyoko;
Ganesan, Vigneswari;
Teik, Keng W.;
Nakashima, Mitsuko;
Mitsuhashi, Satomi;
Mizuguchi, Takeshi;
Takata, Atsushi;
Miyake, Noriko;
Saitsu, Hirotomo;
Ogata, Kazuhiro;
Miyatake, Satoko;
Matsumoto, Naomichi

Publication type:

Article

A novel CYCS mutation in the α‐helix of the CYCS C‐terminal domain causes non‐syndromic thrombocytopenia.

Published in:

Clinical Genetics, 2018, v. 94, n. 6, p. 548, doi. 10.1111/cge.13423

By:

Uchiyama, Yuri;
Yanagisawa, Kunio;
Kunishima, Shinji;
Shiina, Masaaki;
Ogawa, Yoshiyuki;
Nakashima, Mitsuko;
Hirato, Junko;
Imagawa, Eri;
Fujita, Atsushi;
Hamanaka, Kohei;
Miyatake, Satoko;
Mitsuhashi, Satomi;
Takata, Atsushi;
Miyake, Noriko;
Ogata, Kazuhiro;
Handa, Hiroshi;
Matsumoto, Naomichi;
Mizuguchi, Takeshi

Publication type:

Article

Novel SUZ12 mutations in Weaver‐like syndrome.

Published in:

Clinical Genetics, 2018, v. 94, n. 5, p. 461, doi. 10.1111/cge.13415

By:

Imagawa, Eri;
Albuquerque, Edoarda V.A.;
Isidor, Bertrand;
Mitsuhashi, Satomi;
Mizuguchi, Takeshi;
Miyatake, Satoko;
Takata, Atsushi;
Miyake, Noriko;
Boguszewski, Margaret C.S.;
Boguszewski, César L.;
Lerario, Antonio M.;
Funari, Mariana A.;
Jorge, Alexander A.L.;
Matsumoto, Naomichi

Publication type:

Article

Genome-wide survey of tandem repeats by nanopore sequencing shows that disease-associated repeats are more polymorphic in the general population.

Published in:

BMC Medical Genomics, 2021, v. 14, n. 1, p. 1, doi. 10.1186/s12920-020-00853-3

By:

Mitsuhashi, Satomi;
Frith, Martin C.;
Matsumoto, Naomichi

Publication type:

Article

Human PTRF mutations cause secondary deficiency of caveolins resulting in muscular dystrophy with generalized lipodystrophy.

Published in:

2009

By:

Hayashi, Yukiko K.;
Matsuda, Chie;
Ogawa, Megumu;
Goto, Kanako;
Tominaga, Kayo;
Mitsuhashi, Satomi;
Young-Eun Park;
Nonaka, Ikuya;
Hino-Fukuyo, Naomi;
Haginoya, Kazuhiro;
Sugano, Hisashi;
Nishino, Ichizo;
Park, Young-Eun

Publication type:

journal article

Molecular characterization of feline paramyxovirus in Japanese cat populations.

Published in:

Archives of Virology, 2020, v. 165, n. 2, p. 413, doi. 10.1007/s00705-019-04480-x

By:

Sakaguchi, Shoichi;
Nakagawa, So;
Mitsuhashi, Satomi;
Ogawa, Makoto;
Sugiyama, Kazutoshi;
Tamukai, Kenichi;
Koide, Rie;
Katayama, Yukie;
Nakano, Takashi;
Makino, Shinji;
Imanishi, Tadashi;
Miyazawa, Takayuki;
Mizutani, Tetsuya

Publication type:

Article

Nanopore direct RNA sequencing detects DUX4-activated repeats and isoforms in human muscle cells.

Published in:

Human Molecular Genetics, 2021, v. 30, n. 7, p. 552, doi. 10.1093/hmg/ddab063

By:

Mitsuhashi, Satomi;
Nakagawa, So;
Sasaki-Honda, Mitsuru;
Sakurai, Hidetoshi;
Frith, Martin C;
Mitsuhashi, Hiroaki

Publication type:

Article

Homozygous nonsense mutation in SGCA is a common cause of limb-girdle muscular dystrophy in Assiut, Egypt.

Published in:

2016

By:

Reddy, Hemakumar M.;
Hamed, Sherifa A.;
Lek, Monkol;
Mitsuhashi, Satomi;
Estrella, Elicia;
Jones, Michael D.;
Mahoney, Lane J.;
Duncan, Anna R.;
Cho, Kyung‐ah;
Macarthur, Daniel G.;
Kunkel, Louis M.;
Kang, Peter B.;
Cho, Kyung-Ah

Publication type:

journal article

HERV-Derived Ervpb1 Is Conserved in Simiiformes, Exhibiting Expression in Hematopoietic Cell Lineages Including Macrophages.

Published in:

International Journal of Molecular Sciences, 2021, v. 22, n. 9, p. 4504, doi. 10.3390/ijms22094504

By:

Matsuzawa, Ayumi;
Lee, Jiyoung;
Nakagawa, So;
Itoh, Johbu;
Takahashi Ueda, Mahoko;
Mitsuhashi, Satomi;
Kochi, Yuta;
Kaneko-Ishino, Tomoko;
Ishino, Fumitoshi;
Cha, Hee-Jae

Publication type:

Article

Large-scale discovery of novel neurodevelopmental disorder-related genes through a unified analysis of single-nucleotide and copy number variants.

Published in:

Genome Medicine, 2022, v. 14, n. 1, p. 1, doi. 10.1186/s13073-022-01042-w

By:

Hamanaka, Kohei;
Miyake, Noriko;
Mizuguchi, Takeshi;
Miyatake, Satoko;
Uchiyama, Yuri;
Tsuchida, Naomi;
Sekiguchi, Futoshi;
Mitsuhashi, Satomi;
Tsurusaki, Yoshinori;
Nakashima, Mitsuko;
Saitsu, Hirotomo;
Yamada, Kohei;
Sakamoto, Masamune;
Fukuda, Hiromi;
Ohori, Sachiko;
Saida, Ken;
Itai, Toshiyuki;
Azuma, Yoshiteru;
Koshimizu, Eriko;
Fujita, Atsushi

Publication type:

Article

Mutations in the satellite cell gene MEGF10 cause a recessive congenital myopathy with minicores.

Published in:

Neurogenetics, 2012, v. 13, n. 2, p. 115, doi. 10.1007/s10048-012-0315-z

By:

Boyden, Steven;
Mahoney, Lane;
Kawahara, Genri;
Myers, Jennifer;
Mitsuhashi, Satomi;
Estrella, Elicia;
Duncan, Anna;
Dey, Friederike;
DeChene, Elizabeth;
Blasko-Goehringer, Jessica;
Bönnemann, Carsten;
Darras, Basil;
Mendell, Jerry;
Lidov, Hart;
Nishino, Ichizo;
Beggs, Alan;
Kunkel, Louis;
Kang, Peter

Publication type:

Article

Cysteine mutations cause defective tyrosine phosphorylation in MEGF10 myopathy.

Published in:

FEBS Letters, 2013, v. 587, n. 18, p. 2952, doi. 10.1016/j.febslet.2013.08.002

By:

Mitsuhashi, Satomi;
Mitsuhashi, Hiroaki;
Alexander, Matthew S.;
Sugimoto, Hiroyuki;
Kang, Peter B.

Publication type:

Article

Recurrent NUS1 canonical splice donor site mutation in two unrelated individuals with epilepsy, myoclonus, ataxia and scoliosis - a case report.

Published in:

2019

By:

Den, Kouhei;
Kudo, Yosuke;
Kato, Mitsuhiro;
Watanabe, Kosuke;
Doi, Hiroshi;
Tanaka, Fumiaki;
Oguni, Hirokazu;
Miyatake, Satoko;
Mizuguchi, Takeshi;
Takata, Atsushi;
Miyake, Noriko;
Mitsuhashi, Satomi;
Matsumoto, Naomichi

Publication type:

journal article

Congenital muscular dystrophy with fatty liver and infantile-onset cataract caused by TRAPPC11 mutations: broadening of the phenotype.

Published in:

Skeletal Muscle, 2015, v. 5, n. 1, p. 1, doi. 10.1186/s13395-015-0056-4

By:

Wen-Chen Liang;
Wenhua Zhu;
Satomi Mitsuhashi;
Satoru Noguchi;
Sacher, Michael;
Megumu Ogawa;
Hsiang-Hung Shih;
Yuh-Jyh Jong;
Ichizo Nishino

Publication type:

Article

Father-to-offspring transmission of extremely long NOTCH2NLC repeat expansions with contractions: genetic and epigenetic profiling with long-read sequencing.

Published in:

Clinical Epigenetics, 2021, v. 13, n. 1, p. 1, doi. 10.1186/s13148-021-01192-5

By:

Fukuda, Hiromi;
Yamaguchi, Daisuke;
Nyquist, Kristofor;
Yabuki, Yasushi;
Miyatake, Satoko;
Uchiyama, Yuri;
Hamanaka, Kohei;
Saida, Ken;
Koshimizu, Eriko;
Tsuchida, Naomi;
Fujita, Atsushi;
Mitsuhashi, Satomi;
Ohbo, Kazuyuki;
Satake, Yuki;
Sone, Jun;
Doi, Hiroshi;
Morihara, Keisuke;
Okamoto, Tomoko;
Takahashi, Yuji;
Wenger, Aaron M.

Publication type:

Article

A pipeline for complete characterization of complex germline rearrangements from long DNA reads.

Published in:

Genome Medicine, 2020, v. 12, n. 1, p. 1, doi. 10.1186/s13073-020-00762-1

By:

Mitsuhashi, Satomi;
Ohori, Sachiko;
Katoh, Kazutaka;
Frith, Martin C.;
Matsumoto, Naomichi

Publication type:

Article

Detection of pathogenic bacteria in the blood from sepsis patients using 16S rRNA gene amplicon sequencing analysis.

Published in:

PLoS ONE, 2018, v. 13, n. 8, p. 1, doi. 10.1371/journal.pone.0202049

By:

Watanabe, Nobuo;
Kryukov, Kirill;
Nakagawa, So;
Takeuchi, Junko S.;
Takeshita, Meiko;
Kirimura, Yukiko;
Mitsuhashi, Satomi;
Ishihara, Toru;
Aoki, Hiromichi;
Inokuchi, Sadaki;
Imanishi, Tadashi;
Inoue, Shigeaki

Publication type:

Article

Phospholipid synthetic defect and mitophagy in muscle disease.

Published in:

Autophagy, 2011, v. 7, n. 12, p. 1559, doi. 10.4161/auto.7.12.17925

By:

Mitsuhashi, Satomi;
Nishino, Ichizo

Publication type:

Article

High-density areas on muscle CT in childhood-onset Pompe disease are caused by excess calcium accumulation.

Published in:

2010

By:

Ishigaki, Keiko;
Mitsuhashi, Satomi;
Kuwatsuru, Ryohei;
Murakami, Terumi;
Shishikura, Keiko;
Suzuki, Haruko;
Hirayama, Yoshito;
Nonaka, Ikuya;
Osawa, Makiko

Publication type:

Report

Japanese case of Emery-Dreifuss muscular dystrophy with a novel LMNA missense mutation.

Published in:

Neurology & Clinical Neuroscience, 2016, v. 4, n. 3, p. 124, doi. 10.1111/ncn3.12047

By:

Yajima, Ryuji;
Takahashi, Tetsuya;
Higuchi, Yo;
Ishikawa, Masanori;
Mitsuhashi, Satomi;
Nishino, Ichizo;
Nishizawa, Masatoyo

Publication type:

Article

Wilson disease (novel ATP7B variants) with concomitant FLNC-related cardiomyopathy.

Published in:

Human Genome Variation, 2024, v. 11, n. 1, p. 1, doi. 10.1038/s41439-024-00283-y

By:

Imai, Takeshi;
Mitsuhashi, Satomi;
Isahaya, Kenji;
Shibata, Soichiro;
Kawai, Yosuke;
Omae, Yosuke;
Tokunaga, Katsushi;
Ishibashi-Ueda, Hatsue;
Tomita, Tsutomu;
Noguchi, Michio;
Takahashi, Ayako;
Goto, Yu-ichi;
Yoshida, Sumiko;
Hattori, Kotaro;
Matsumura, Ryo;
Iida, Aritoshi;
Maruoka, Yutaka;
Gatanaga, Hiroyuki;
Shimomura, Akihiko;
Sugiyama, Masaya

Publication type:

Article

Hemizygous FLNA variant in West syndrome without periventricular nodular heterotopia.

Published in:

Human Genome Variation, 2020, v. 7, n. 1, p. N.PAG, doi. 10.1038/s41439-020-00131-9

By:

Hiromoto, Yoshitaka;
Azuma, Yoshiteru;
Suzuki, Yuichi;
Hoshina, Megumi;
Uchiyama, Yuri;
Mitsuhashi, Satomi;
Miyatake, Satoko;
Mizuguchi, Takeshi;
Takata, Atsushi;
Miyake, Noriko;
Kato, Mitsuhiro;
Matsumoto, Naomichi

Publication type:

Article

Nonsense variants of STAG2 result in distinct congenital anomalies.

Published in:

Human Genome Variation, 2020, v. 7, n. 1, p. N.PAG, doi. 10.1038/s41439-020-00114-w

By:

Aoi, Hiromi;
Lei, Ming;
Mizuguchi, Takeshi;
Nishioka, Nobuko;
Goto, Tomohide;
Miyama, Sahoko;
Suzuki, Toshifumi;
Iwama, Kazuhiro;
Uchiyama, Yuri;
Mitsuhashi, Satomi;
Itakura, Atsuo;
Takeda, Satoru;
Matsumoto, Naomichi

Publication type:

Article

SOFT syndrome in a patient from Chile.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 3, p. 338, doi. 10.1002/ajmg.a.61015

By:

Saida, Ken;
Silva, Sebastian;
Solar, Benjamin;
Fujita, Atsushi;
Hamanaka, Kohei;
Mitsuhashi, Satomi;
Koshimizu, Eriko;
Mizuguchi, Takeshi;
Miyatake, Satoko;
Takata, Atsushi;
Miyake, Noriko;
Matsumoto, Naomichi

Publication type:

Article

Recessive RYR1 mutations in a patient with severe congenital nemaline myopathy with ophthalomoplegia identified through massively parallel sequencing.

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 4, p. 772, doi. 10.1002/ajmg.a.35243

By:

Kondo, Eri;
Nishimura, Takafumi;
Kosho, Tomoki;
Inaba, Yuji;
Mitsuhashi, Satomi;
Ishida, Takefumi;
Baba, Atsushi;
Koike, Kenichi;
Nishino, Ichizo;
Nonaka, Ikuya;
Furukawa, Toru;
Saito, Kayoko

Publication type:

Article

Erratum to: Complete sequencing of expanded SAMD12 repeats by long-read sequencing and Cas9-mediated enrichment.

Published in:

2021

By:

Mizuguchi, Takeshi;
Toyota, Tomoko;
Miyatake, Satoko;
Mitsuhashi, Satomi;
Doi, Hiroshi;
Kudo, Yosuke;
Kishida, Hitaru;
Hayashi, Noriko;
Tsuburaya, Rie S;
Kinoshita, Masako;
Fukuyama, Tetsuhiro;
Fukuda, Hiromi;
Koshimizu, Eriko;
Tsuchida, Naomi;
Uchiyama, Yuri;
Fujita, Atsushi;
Takata, Atsushi;
Miyake, Noriko;
Kato, Mitsuhiro;
Tanaka, Fumiaki

Publication type:

corrected article

Complete sequencing of expanded SAMD12 repeats by long-read sequencing and Cas9-mediated enrichment.

Published in:

2021

By:

Mizuguchi, Takeshi;
Toyota, Tomoko;
Miyatake, Satoko;
Mitsuhashi, Satomi;
Doi, Hiroshi;
Kudo, Yosuke;
Kishida, Hitaru;
Hayashi, Noriko;
Tsuburaya, Rie S;
Kinoshita, Masako;
Fukuyama, Tetsuhiro;
Fukuda, Hiromi;
Koshimizu, Eriko;
Tsuchida, Naomi;
Uchiyama, Yuri;
Fujita, Atsushi;
Takata, Atsushi;
Miyake, Noriko;
Kato, Mitsuhiro;
Tanaka, Fumiaki

Publication type:

journal article

Reply to "GGC Repeat Expansion of NOTCH2NLC is Rare in European Leukoencephalopathy".

Published in:

2020

By:

Doi, Hiroshi;
Okubo, Masaki;
Fukai, Ryoko;
Fujita, Atsushi;
Mitsuhashi, Satomi;
Takahashi, Keita;
Kunii, Misako;
Tada, Mikiko;
Fukuda, Hiromi;
Mizuguchi, Takeshi;
Miyatake, Satoko;
Miyake, Noriko;
Sone, Jun;
Sobue, Gen;
Takeuchi, Hideyuki;
Matsumoto, Naomichi;
Tanaka, Fumiaki

Publication type:

Letter

GGC Repeat Expansion of NOTCH2NLC in Adult Patients with Leukoencephalopathy.

Published in:

2019

By:

Okubo, Masaki;
Doi, Hiroshi;
Fukai, Ryoko;
Fujita, Atsushi;
Mitsuhashi, Satomi;
Hashiguchi, Shunta;
Kishida, Hitaru;
Ueda, Naohisa;
Morihara, Keisuke;
Ogasawara, Akihiro;
Kawamoto, Yuko;
Takahashi, Tatsuya;
Takahashi, Keita;
Nakamura, Haruko;
Kunii, Misako;
Tada, Mikiko;
Katsumoto, Atsuko;
Fukuda, Hiromi;
Mizuguchi, Takeshi;
Miyatake, Satoko

Publication type:

journal article

Biallelic COLGALT1 variants are associated with cerebral small vessel disease.

Published in:

2018

By:

Miyatake, Satoko;
Schneeberger, Sacha;
Koyama, Norihisa;
Yokochi, Kenji;
Ohmura, Kayo;
Shiina, Masaaki;
Mori, Harushi;
Koshimizu, Eriko;
Imagawa, Eri;
Uchiyama, Yuri;
Mitsuhashi, Satomi;
Frith, Martin C.;
Fujita, Atsushi;
Satoh, Mai;
Taguri, Masataka;
Tomono, Yasuko;
Takahashi, Keita;
Doi, Hiroshi;
Takeuchi, Hideyuki;
Nakashima, Mitsuko

Publication type:

journal article

Recurrent SCN3A p.Ile875Thr variant in patients with polymicrogyria.

Published in:

2018

By:

Miyatake, Satoko;
Kato, Mitsuhiro;
Sawaishi, Yukio;
Saito, Takashi;
Nakashima, Mitsuko;
Mizuguchi, Takeshi;
Mitsuhashi, Satomi;
Takata, Atsushi;
Miyake, Noriko;
Saitsu, Hirotomo;
Matsumoto, Naomichi

Publication type:

Letter

Zmynd17 controls muscle mitochondrial quality and whole-body metabolism.

Published in:

FASEB Journal, 2018, v. 32, n. 9, p. 5012, doi. 10.1096/fj.201701264R

By:

Ryo Fujita;
Kiyoshi Yoshioka;
Daiki Seko;
Takashi Suematsu;
Satomi Mitsuhashi;
Nanami Senoo;
Shinji Miura;
Ichizo Nishino;
Yusuke Ono

Publication type:

Article

Silencing of drpr leads to muscle and brain degeneration in adult Drosophila.

Published in:

FASEB Journal, 2013, v. 27, p. 873.14, doi. 10.1096/fasebj.27.1_supplement.873.14

By:

Draper, Isabelle;
Mahoney, Lane J.;
Mitsuhashi, Satomi;
Freeman, Marc R.;
Salomon, Robert N.;
Kang, Peter B.

Publication type:

Article

Characterization of glycerophosphodiesterase 4-interacting molecules Gαq/11 and Gβ, which mediate cellular lysophospholipase D activity.

Published in:

Biochemical Journal, 2019, v. 476, n. 24, p. 3721, doi. 10.1042/BCJ20190666

By:

Chieko Aoyama;
Yasuhiro Horibata;
Hiromi Ando;
Satomi Mitsuhashi;
Maki Arai;
Hiroyuki Sugimoto

Publication type:

Article

Transcriptional suppression of CTP:phosphoethanolamine cytidylyltransferase by 25-hydroxycholesterol is mediated by nuclear factor-Y and Yin Yang 1.

Published in:

Biochemical Journal, 2015, v. 471, n. 3, p. 369, doi. 10.1042/BJ20150318

By:

Hiromi Ando;
Chieko Aoyama;
Yasuhiro Horibata;
Motoyasu Satou;
Satomi Mitsuhashi;
Masahiko Itoh;
Kohei Hosaka;
Hiroyuki Sugimoto

Publication type:

Article

Haploinsufficiency of A20 caused by a novel nonsense variant or entire deletion of TNFAIP3 is clinically distinct from Behçet's disease.

Published in:

Arthritis Research & Therapy, 2019, v. 21, n. 1, p. N.PAG, doi. 10.1186/s13075-019-1928-5

By:

Tsuchida, Naomi;
Kirino, Yohei;
Soejima, Yutaro;
Onodera, Masafumi;
Arai, Katsuhiro;
Tamura, Eiichiro;
Ishikawa, Takashi;
Kawai, Toshinao;
Uchiyama, Toru;
Nomura, Shigeru;
Kobayashi, Daisuke;
Taguri, Masataka;
Mitsuhashi, Satomi;
Mizuguchi, Takeshi;
Takata, Atsushi;
Miyake, Noriko;
Nakajima, Hideaki;
Miyatake, Satoko;
Matsumoto, Naomichi

Publication type:

Article

Plasmid analysis of NDM metallo-β-lactamase-producing Enterobacterales isolated in Vietnam.

Published in:

PLoS ONE, 2021, v. 16, n. 7, p. 1, doi. 10.1371/journal.pone.0231119

By:

Hirabayashi, Aki;
Yahara, Koji;
Mitsuhashi, Satomi;
Nakagawa, So;
Imanishi, Tadashi;
Ha, Van Thi Thu;
Nguyen, An Van;
Nguyen, Son Thai;
Shibayama, Keigo;
Suzuki, Masato

Publication type:

Article

A novel NODAL variant in a young embolic stroke patient with visceral heterotaxy.

Published in:

BMC Neurology, 2024, v. 24, n. 1, p. 1, doi. 10.1186/s12883-024-03619-x

By:

Kaburagi, Kei;
Hagiwara, Yuta;
Tachikawa, Keiji;
Miyake, Noriko;
Akiyama, Hisanao;
Kawai, Yosuke;
Omae, Yosuke;
Tokunaga, Katsushi;
Yamano, Yoshihisa;
Shimizu, Takahiro;
Mitsuhashi, Satomi

Publication type:

Article

MYRF haploinsufficiency causes 46,XY and 46,XX disorders of sex development: bioinformatics consideration.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 14, p. 2319, doi. 10.1093/hmg/ddz066

By:

Hamanaka, Kohei;
Takata, Atsushi;
Uchiyama, Yuri;
Miyatake, Satoko;
Miyake, Noriko;
Mitsuhashi, Satomi;
Iwama, Kazuhiro;
Fujita, Atsushi;
Imagawa, Eri;
Alkanaq, Ahmed N;
Koshimizu, Eriko;
Azuma, Yoshiki;
Nakashima, Mitsuko;
Mizuguchi, Takeshi;
Saitsu, Hirotomo;
Wada, Yuka;
Minami, Sawako;
Katoh-Fukui, Yuko;
Masunaga, Yohei;
Fukami, Maki

Publication type:

Article

A patient-derived iPSC model revealed oxidative stress increases facioscapulohumeral muscular dystrophy-causative DUX4.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 23, p. 4024, doi. 10.1093/hmg/ddy293

By:

Sasaki-Honda, Mitsuru;
Jonouchi, Tatsuya;
Arai, Meni;
Hotta, Akitsu;
Mitsuhashi, Satomi;
Nishino, Ichizo;
Matsuda, Ryoichi;
Sakurai, Hidetoshi

Publication type:

Article

Loss-of-function and gain-of-function mutations in PPP3CA cause two distinct disorders.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 8, p. 1421, doi. 10.1093/hmg/ddy052

By:

Takeshi Mizuguchi;
Mitsuko Nakashima;
Mitsuhiro Kato;
Nobuhiko Okamoto;
Hirokazu Kurahashi;
Nina Ekhilevitch;
Masaaki Shiina;
Gen Nishimura;
Takashi Shibata;
Muneaki Matsuo;
Tae Ikeda;
Kazuhiro Ogata;
Naomi Tsuchida;
Satomi Mitsuhashi;
Satoko Miyatake;
Atsushi Takata;
Noriko Miyake;
Kenichiro Hata;
Tadashi Kaname;
Yoichi Matsubara

Publication type:

Article

Consequences of MEGF10 deficiency on myoblast function and Notch1 interactions.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 15, p. 2984, doi. 10.1093/hmg/ddx189

By:

Saha, Madhurima;
Mitsuhashi, Satomi;
Jones, Michael D.;
Manko, Kelsey;
Reddy, Hemakumar M.;
Bruels, Christine C.;
Kyung-Ah Cho;
Pacak, Christina A.;
Draper, Isabelle;
Kang, Peter B.

Publication type:

Article

Expression of DUX4 in zebrafish development recapitulates facioscapulohumeral muscular dystrophy.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 3, p. 568, doi. 10.1093/hmg/dds467

By:

Mitsuhashi, Hiroaki;
Mitsuhashi, Satomi;
Lynn-Jones, Taylor;
Kawahara, Genri;
Kunkel, Louis M.

Publication type:

Article

Muscle choline kinase beta defect causes mitochondrial dysfunction and increased mitophagy.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 19, p. 3841, doi. 10.1093/hmg/ddr305

By:

Mitsuhashi, Satomi;
Hatakeyama, Hideyuki;
Karahashi, Minako;
Koumura, Tomoko;
Nonaka, Ikuya;
Hayashi, Yukiko K.;
Noguchi, Satoru;
Sher, Roger B.;
Nakagawa, Yasuhito;
Manfredi, Giovanni;
Goto, Yu-ichi;
Cox, Gregory A.;
Nishino, Ichizo

Publication type:

Article

Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy.

Published in:

Nature Communications, 2019, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41467-019-10482-9

By:

Takata, Atsushi;
Nakashima, Mitsuko;
Saitsu, Hirotomo;
Mizuguchi, Takeshi;
Mitsuhashi, Satomi;
Takahashi, Yukitoshi;
Okamoto, Nobuhiko;
Osaka, Hitoshi;
Nakamura, Kazuyuki;
Tohyama, Jun;
Haginoya, Kazuhiro;
Takeshita, Saoko;
Kuki, Ichiro;
Okanishi, Tohru;
Goto, Tomohide;
Sasaki, Masayuki;
Sakai, Yasunari;
Miyake, Noriko;
Miyatake, Satoko;
Tsuchida, Naomi

Publication type:

Article