Works matching AU Hayashi, Yukiko K.

Results: 67

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

Corrigendum: Metabolic dysregulation and decreased capillarization in skeletal muscles of male adolescent offspring rats exposed to gestational intermittent hypoxia.

Published in:

2024

By:

Wongkitikamjorn, Wirongrong;
Wada, Eiji;
Hosomichi, Jun;
Maeda, Hideyuki;
Satrawaha, Sirichom;
Hong, Haixin;
Yoshida, Ken-ichi;
Ono, Takashi;
Hayashi, Yukiko K.

Publication type:

Correction Notice

Metabolic dysregulation and decreased capillarization in skeletal muscles of male adolescent offspring rats exposed to gestational intermittent hypoxia.

Published in:

Frontiers in Physiology, 2024, p. 1, doi. 10.3389/fphys.2023.1067683

By:

Wongkitikamjorn, Wirongrong;
Wada, Eiji;
Hosomichi, Jun;
Maeda, Hideyuki;
Satrawaha, Sirichom;
Hong, Haixin;
Yoshida, Ken-ichi;
Ono, Takashi;
Hayashi, Yukiko K.

Publication type:

Article

Dysferlinopathy Fibroblasts Are Defective in Plasma Membrane Repair.

Published in:

PLoS Currents, 2015, p. 190, doi. 10.1371/currents.md.5865add2d766f39a0e0411d38a7ba09c

By:

Chie Matsuda;
Kazuyuki Kiyosue;
Ichizo Nishino;
Yuichi Goto;
Hayashi, Yukiko K.

Publication type:

Article

Nuclear Deformities Minimally Affect Fiber‐Type‐Specific Disease Progression in Murine Models of Nuclear Envelope Myopathy.

Published in:

FASEB Journal, 2025, v. 39, n. 9, p. 1, doi. 10.1096/fj.202500288R

By:

Wada, Eiji;
Susumu, Nao;
Hayashi, Yukiko K.

Publication type:

Article

Synaptic adhesion molecules in Cadm family at the neuromuscular junction.

Published in:

Cell Biology International, 2013, v. 37, n. 7, p. 731, doi. 10.1002/cbin.10092

By:

Tanabe, Yuko;
Fujita, Eriko;
Hayashi, Yukiko K.;
Zhu, Xinran;
Lubbert, Hermann;
Mezaki, Yoshihiro;
Senoo, Haruki;
Momoi, Takashi

Publication type:

Article

Early onset of cardiomyopathy and intellectual disability in a girl with Danon disease associated with a de novo novel mutation of the LAMP2 gene.

Published in:

Neuropathology, 2016, v. 36, n. 6, p. 561, doi. 10.1111/neup.12307

By:

Sugie, Kazuma;
Yoshizawa, Hiroyuki;
Onoue, Kenji;
Nakanishi, Yoko;
Eura, Nobuyuki;
Ogawa, Megumu;
Nakano, Tomoya;
Sakaguchi, Yasuhiro;
Hayashi, Yukiko K.;
Kishimoto, Toshifumi;
Shima, Midori;
Saito, Yoshihiko;
Nishino, Ichizo;
Ueno, Satoshi

Publication type:

Article

Kyphoscoliosis and easy fatigability in a 14-year-old boy.

Published in:

Neuropathology, 2015, v. 35, n. 1, p. 91, doi. 10.1111/neup.12147

By:

Tanboon, Jantima;
Hayashi, Yukiko K.;
Nishino, Ichizo;
Sangruchi, Tumtip

Publication type:

Article

Lobulated fibers in a patient with 46-year history of limb-girdle muscle weakness.

Published in:

2011

By:

Tsuburaya, Rie;
Suzuki, Takateru;
Saiki, Ken;
Nonaka, Ikuya;
Sugita, Hideo;
Hayashi, Yukiko K.;
Nishino, Ichizo

Publication type:

Other

Optimized simple culture protocol for inducing mature myotubes from MYOD1-overexpressed human iPS cells.

Published in:

Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-79745-w

By:

Wada, Eiji;
Susumu, Nao;
Okuzaki, Yuya;
Hotta, Akitsu;
Sakurai, Hidetoshi;
Hayashi, Yukiko K.

Publication type:

Article

α-1,6-Fucosyltransferase Is Essential for Myogenesis in Zebrafish.

Published in:

Cells (2073-4409), 2023, v. 12, n. 1, p. 144, doi. 10.3390/cells12010144

By:

Hayashiji, Nozomi;
Kawahara, Genri;
Xu, Xing;
Fukuda, Tomohiko;
Kerever, Aurelien;
Gu, Jianguo;
Hayashi, Yukiko K.;
Arikawa-Hirasawa, Eri

Publication type:

Article

Toward the development of a vibrant, super‐aged society: The future of medicine and society in Japan.

Published in:

Geriatrics & Gerontology International, 2021, v. 21, n. 8, p. 601, doi. 10.1111/ggi.14201

By:

Iijima, Katsuya;
Arai, Hidenori;
Akishita, Masahiro;
Endo, Tamao;
Ogasawara, Kouetsu;
Kashihara, Naoki;
Hayashi, Yukiko K;
Yumura, Wako;
Yokode, Masayuki;
Ouchi, Yasuyoshi

Publication type:

Article

Exome sequencing as a diagnostic tool to identify a causal mutation in genetically highly heterogeneous limb-girdle muscular dystrophy.

Published in:

Journal of Human Genetics, 2013, v. 58, n. 8, p. 564, doi. 10.1038/jhg.2013.33

By:

Matsuura, Tohru;
Kurosaki, Tatsuaki;
Omote, Yoshio;
Minami, Narihiro;
Hayashi, Yukiko K;
Nishino, Ichizo;
Abe, Koji

Publication type:

Article

Myotonic dystrophy type 2 is rare in the Japanese population.

Published in:

Journal of Human Genetics, 2012, v. 57, n. 3, p. 219, doi. 10.1038/jhg.2011.152

By:

Matsuura, Tohru;
Minami, Narihiro;
Arahata, Hajime;
Ohno, Kinji;
Abe, Koji;
Hayashi, Yukiko K;
Nishino, Ichizo

Publication type:

Article

Deficiency of emerin contributes differently to the pathogenesis of skeletal and cardiac muscles in Lmna<sup>H222P/H222P</sup> mutant mice.

Published in:

PLoS ONE, 2019, v. 14, n. 8, p. 1, doi. 10.1371/journal.pone.0221512

By:

Wada, Eiji;
Kato, Megumi;
Yamashita, Kaori;
Kokuba, Hiroko;
Liang, Wen-Chen;
Bonne, Gisèle;
Hayashi, Yukiko K.

Publication type:

Article

Subcellular Localization of Fukutin and Fukutin-Related Protein in Muscle Cells.

Published in:

Journal of Biochemistry, 2004, v. 135, n. 6, p. 709, doi. 10.1093/jb/mvh086

By:

Matsumoto, Hiroshi;
Noguchi, Satoru;
Sugie, Kazuma;
Ogawa, Megumu;
Murayama, Kumiko;
Hayashi, Yukiko K.;
Nishino, Ichizo

Publication type:

Article

Localization of Calpain 3 in Human Skeletal Muscle and Its Alteration in Limb-Girdle Muscular Dystrophy 2A Muscle.

Published in:

Journal of Biochemistry, 2003, v. 133, n. 5, p. 659, doi. 10.1093/jb/mvg084

By:

Keira, Yoko;
Noguchi, Satoru;
Minami, Narihiro;
Hayashi, Yukiko K.;
Nishino, Ichizo

Publication type:

Article

A 31-Year-Old Man with Slowly Progressive Limb Muscle Weakness and Respiratory Insufficiency.

Published in:

Brain Pathology, 2018, v. 28, n. 1, p. 123, doi. 10.1111/bpa.12575

By:

Uruha, Akinori;
Hayashi, Yukiko K.;
Mori‐Yoshimura, Madoka;
Oya, Yasushi;
Kanai, Masahiro;
Murata, Miho;
Nishino, Ichizo

Publication type:

Article

2 Month-Old Male with Hypotonia.

Published in:

2015

By:

Tanboon, Jantima;
Viravan, Sorawit;
Hayashi, Yukiko K.;
Nishino, Ichizo;
Sangruchi, Tumtip

Publication type:

Other

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 dynamics simulation of structural changes in the LIM2 domain of FHL1 caused by tyrosine mutants.

Published in:

Molecular Simulation, 2025, v. 51, n. 5, p. 298, doi. 10.1080/08927022.2025.2475978

By:

Nakajima, Motokuni;
Noguchi, Yoh;
Yamada, Hironao;
Morikawa, Ryota;
Hayashi, Yukiko K.;
Takasu, Masako

Publication type:

Article

Characterization of Zebrafish Models of Marinesco-Sjögren Syndrome.

Published in:

PLoS ONE, 2016, v. 11, n. 10, p. 1, doi. 10.1371/journal.pone.0165563

By:

Kawahara, Genri;
Hayashi, Yukiko K.

Publication type:

Article

Respiratory and cardiac function in japanese patients with dysferlinopathy.

Published in:

2016

By:

Nishikawa, Atsuko;
Mori‐Yoshimura, Madoka;
Segawa, Kazuhiko;
Hayashi, Yukiko K.;
Takahashi, Toshiaki;
Saito, Yuko;
Nonaka, Ikuya;
Krahn, Martin;
Levy, Nicolas;
Shimizu, Jun;
Mitsui, Jun;
Kimura, En;
Goto, Jun;
Yonemoto, Naohiro;
Aoki, Masashi;
Nishino, Ichizo;
Oya, Yasushi;
Murata, Miho

Publication type:

journal article

Prednisolone improves walking in Japanese Duchenne muscular dystrophy patients.

Published in:

Journal of Neurology, 2013, v. 260, n. 12, p. 3023, doi. 10.1007/s00415-013-7104-y

By:

Takeuchi, Fumi;
Yonemoto, Naohiro;
Nakamura, Harumasa;
Shimizu, Reiko;
Komaki, Hirofumi;
Mori-Yoshimura, Madoka;
Hayashi, Yukiko K.;
Nishino, Ichizo;
Kawai, Mitsuru;
Kimura, En;
Takeda, Shin’ichi

Publication type:

Article

A Gne knockout mouse expressing human GNE D176V mutation develops features similar to distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 22, p. 2669, doi. 10.1093/hmg/ddm220

By:

Malicdan, May Christine V.;
Noguchi, Satoru;
Nonaka, Ikuya;
Hayashi, Yukiko K.;
Nishino, Ichizo

Publication type:

Article

A Gne knockout mouse expressing human V572L mutation develops features similar to distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 21, p. 2647, doi. 10.1093/hmg/ddm231

By:

Malicdan, May Christine V.;
Noguchi, Satoru;
Nonaka, Ikuya;
Hayashi, Yukiko K.;
Nishino, Ichizo

Publication type:

Article

Activation of MAPK in hearts of EMD null mice: similarities between mouse models of X-linked and autosomal dominant Emery–Dreifuss muscular dystrophy.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 15, p. 1884, doi. 10.1093/hmg/ddm137

By:

Muchir, Antoine;
Pavlidis, Paul;
Bonne, Gisèle;
Hayashi, Yukiko K.;
Worman, Howard J.

Publication type:

Article

Two endoplasmic reticulum-associated degradation (ERAD) systems for the novel variant of the mutant dysferlin: ubiquitin/proteasome ERAD(I) and autophagy/lysosome ERAD(II).

Published in:

Human Molecular Genetics, 2007, v. 16, n. 6, p. 618, doi. 10.1093/hmg/ddm002

By:

Fujita, Eriko;
Kouroku, Yoriko;
Isoai, Atsushi;
Kumagai, Hiromichi;
Misutani, Akifumi;
Matsuda, Chie;
Hayashi, Yukiko K.;
Momoi, Takashi

Publication type:

Article

A Gne knockout mouse expressing human V572L mutation develops features similar to distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 2, p. 115, doi. 10.1093/hmg/ddl446

By:

Malicdan, May Christine V.;
Noguchi, Satoru;
Nonaka, Ikuya;
Hayashi, Yukiko K.;
Nishino, Ichizo

Publication type:

Article

Worldwide distribution and broader clinical spectrum of muscle–eye–brain disease.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 5, p. 527, doi. 10.1093/hmg/ddg043

By:

Taniguchi, Kiyomi;
Kobayashi, Kazuhiro;
Saito, Kayoko;
Yamanouchi, Hideo;
Ohnuma, Akira;
Hayashi, Yukiko K.;
Manya, Hiroshi;
Jin, Dong Kyu;
Lee, Munhyang;
Parano, Enrico;
Falsaperla, Raffaele;
Pavone, Piero;
Van Coster, Rudy;
Talim, Beril;
Steinbrecher, Alice;
Straub, Volker;
Nishino, Ichizo;
Topaloglu, Haluk;
Voit, Thomas;
Endo, Tamao

Publication type:

Article

Gene expression profiling in dysferlinopathies using a dedicated muscle microarray.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 26, p. 3283, doi. 10.1093/hmg/11.26.3283

By:

Campanaro, Stefano;
Romualdi, Chiara;
Fanin, Marina;
Celegato, Barbara;
Pacchioni, Beniamina;
Trevisan, Silvia;
Laveder, Paolo;
De Pittà, Cristiano;
Pegoraro, Elena;
Hayashi, Yukiko K.;
Valle, Giorgio;
Angelini, Corrado;
Lanfranchi, Gerolamo

Publication type:

Article

The sarcolemmal proteins dysferlin and caveolin-3 interact in skeletal muscle.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 17, p. 1761, doi. 10.1093/hmg/10.17.1761

By:

Matsuda, Chie;
Hayashi, Yukiko K.;
Ogawa, Megumu;
Aoki, Masashi;
Murayama, Kumiko;
Nishino, Ichizo;
Nonaka, Ikuya;
Arahata, Kiichi;
Brown, Jr., Robert H.

Publication type:

Article

The sarcolemmal proteins dysferlin and caveolin-3 interact in skeletal muscle.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 16, p. 1

By:

Matsuda, Chie;
Hayashi, Yukiko K.;
Ogawa, Megumu;
Aoki, Masashi;
Murayama, Kumiko;
Nishino, Ichizo;
Nonaka, Ikuya;
Arahata, Kiichi;
Brown, Jr., Robert H.

Publication type:

Article

The product of an oculopharyngeal muscular dystrophy gene, poly(A)-binding protein 2, interacts with SKIP and stimulates muscle-specific gene expression.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 11, p. 1129, doi. 10.1093/hmg/10.11.1129

By:

Kim, Yeon-Jeong;
Noguchi, Satoru;
Hayashi, Yukiko K.;
Tsukahara, Toshifumi;
Shimizu, Takao;
Arahata, Kiichi

Publication type:

Article

The product of an oculopharyngeal muscular dystrophy gene, poly(A)-binding protein 2, interacts with SKIP and stimulates muscle-specific gene expression.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 11, p. 1129, doi. 10.1093/hmg/10.11.1129

By:

Kim, Yeon-Jeong;
Noguchi, Satoru;
Hayashi, Yukiko K.

Publication type:

Article

Affixin activates Rac1 via βPIX in C2C12 myoblast

Published in:

FEBS Letters, 2008, v. 582, n. 8, p. 1189, doi. 10.1016/j.febslet.2008.01.064

By:

Matsuda, Chie;
Kameyama, Kimihiko;
Suzuki, Atsushi;
Mishima, Wataru;
Yamaji, Satoshi;
Okamoto, Harumasa;
Nishino, Ichizo;
Hayashi, Yukiko K.

Publication type:

Article

Inflammatory myopathy with anti-signal recognition particle antibodies: case series of 100 patients.

Published in:

Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0277-y

By:

Shigeaki Suzuki;
Atsuko Nishikawa;
Masataka Kuwana;
Hiroaki Nishimura;
Yurika Watanabe;
Jin Nakahara;
Yukiko K. Hayashi;
Norihiro Suzuki;
Ichizo Nishino

Publication type:

Article

Nationwide patient registry for GNE myopathy in Japan.

Published in:

Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 1, doi. 10.1186/s13023-014-0150-4

By:

Madoka Mori-Yoshimura;
Hayashi, Yukiko K.;
Naohiro Yonemoto;
Harumasa Nakamura;
Miho Murata;
Shin'ichi Takeda;
Ichizo Nishino;
En Kimura

Publication type:

Article

A nationwide survey on marinesco-sjögren syndrome in Japan.

Published in:

Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 1, doi. 10.1186/1750-1172-9-58

By:

Masahide Goto;
Mari Okada;
Hirofumi Komaki;
Kenji Sugai;
Masayuki Sasaki;
Satoru Noguchi;
Ikuya Nonaka;
Ichizo Nishino;
Hayashi, Yukiko K.

Publication type:

Article

A nationwide survey on Marinesco-Sjögren syndrome in Japan.

Published in:

2014

By:

Goto, Masahide;
Okada, Mari;
Komaki, Hirofumi;
Sugai, Kenji;
Sasaki, Masayuki;
Noguchi, Satoru;
Nonaka, Ikuya;
Nishino, Ichizo;
Hayashi, Yukiko K

Publication type:

journal article

Nationwide patient registry for GNE myopathy in Japan.

Published in:

2014

By:

Mori-Yoshimura, Madoka;
Hayashi, Yukiko K;
Yonemoto, Naohiro;
Nakamura, Harumasa;
Murata, Miho;
Takeda, Shin'ichi;
Nishino, Ichizo;
Kimura, En

Publication type:

journal article

Characteristics of Japanese Duchenne and Becker muscular dystrophy patients in a novel Japanese national registry of muscular dystrophy (Remudy).

Published in:

Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-60

By:

Nakamura, Harumasa;
Kimura, En;
Mori-Yoshimura, Madoka;
Komaki, Hirofumi;
Matsuda, Yu;
Goto, Kanako;
Hayashi, Yukiko K.;
Nishino, Ichizo;
Takeda, Shin'ichi;
Kawai, Mitsuru

Publication type:

Article

Characteristics of Japanese Duchenne and Becker muscular dystrophy patients in a novel Japanese national registry of muscular dystrophy (Remudy).

Published in:

2013

By:

Nakamura, Harumasa;
Kimura, En;
Mori-Yoshimura, Madoka;
Komaki, Hirofumi;
Matsuda, Yu;
Goto, Kanako;
Hayashi, Yukiko K;
Nishino, Ichizo;
Takeda, Shin'ichi;
Kawai, Mitsuru

Publication type:

journal article

GNE myopathy in India.

Published in:

Neurology India, 2013, v. 61, n. 4, p. 371, doi. 10.4103/0028-3886.117609

By:

Atchayaram Nalini;
Narayanappa Gayathri;
Ischizo Nishino;
Yukiko K. Hayashi

Publication type:

Article

Treatment with the anti-IL-6 receptor antibody attenuates muscular dystrophy via promoting skeletal muscle regeneration in dystrophin-/utrophin-deficient mice.

Published in:

Skeletal Muscle, 2017, v. 7, p. 1, doi. 10.1186/s13395-017-0140-z

By:

Eiji Wada;
Jun Tanihata;
Akira Iwamura;
Shin'ichi Takeda;
Hayashi, Yukiko K.;
Ryoichi Matsuda

Publication type:

Article

Congenital myotonic dystrophy can show congenital fiber type disproportion pathology.

Published in:

Acta Neuropathologica, 2010, v. 119, n. 4, p. 481, doi. 10.1007/s00401-010-0660-7

By:

Tominaga, Kayo;
Hayashi, Yukiko K.;
Goto, Kanako;
Minami, Narihiro;
Noguchi, Satoru;
Nonaka, Ikuya;
Miki, Tetsuro;
Nishino, Ichizo

Publication type:

Article

Case of elderly‐onset multiple acyl‐CoA dehydrogenase deficiency with a novel <italic>ETFDH</italic> mutation shows progressive muscle weakness and rhabdomyolysis.

Published in:

Neurology & Clinical Neuroscience, 2018, v. 6, n. 2, p. 39, doi. 10.1111/ncn3.12177

By:

Seino, Yusuke;
Nakamura, Takumi;
Kawarabayashi, Takeshi;
Wakasaya, Yasuhito;
Hayashi, Yukiko K.;
Okubo, Mariko;
Nishino, Ichizo;
Shoji, Mikio

Publication type:

Article

Dysferlinopathy associated with rigid spine syndrome.

Published in:

Neuropathology, 2004, v. 24, n. 4, p. 341, doi. 10.1111/j.1440-1789.2004.00573.x

By:

Nagashima, Toshiko;
Chuma, Takayo;
Mano, Yukio;
Goto, Yu-ichi;
Hayashi, Yukiko K.;
Minami, Narihiro;
Nishino, Ichizo;
Nonaka, Ikuya;
Takahashi, Toshiaki;
Sawa, Hirofumi;
Aoki, Masashi;
Nagashima, Kazuo

Publication type:

Article

Sialyllactose ameliorates myopathic phenotypes in symptomatic GNE myopathy model mice.

Published in:

Brain: A Journal of Neurology, 2014, v. 137, n. 10, p. 2670, doi. 10.1093/brain/awu210

By:

Yonekawa, Takahiro;
Malicdan, May Christine V.;
Cho, Anna;
Hayashi, Yukiko K.;
Nonaka, Ikuya;
Mine, Toshiki;
Yamamoto, Takeshi;
Nishino, Ichizo;
Noguchi, Satoru

Publication type:

Article

Central core disease is due to RYR1 mutations in more than 90% of patients.

Published in:

Brain: A Journal of Neurology, 2006, v. 129, n. 6, p. 1470

By:

Shiwen Wu;
M Carlos A. Ibarra;
May Christine V. Malicdan;
Kumiko Murayama;
Yasuko Ichihara;
Hirosato Kikuchi;
Ikuya Nonaka;
Satoru Noguchi;
Yukiko K. Hayashi;
Ichizo Nishino

Publication type:

Article