65 Result(s)

Article

Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlap** disease

Noncoding repeat expansions cause various neuromuscular diseases, including myotonic dystrophies, fragile X tremor/ataxia syndrome, some spinocerebellar ataxias, amyotrophic lateral sclerosis and benign adult ...

Hiroyuki Ishiura, Shota Shibata, Jun Yoshimura, Yuta Suzuki, Wei Qu… in Nature Genetics (2019)

Article

The brand-new Inoue balloon for retrograde approach: first experience in Japan

Toshihiro Moriki, Tetsuya Tobaru… in Cardiovascular Intervention and Therapeuti… (2019)

Article

Relative abundance of Megamonas hypermegale and Butyrivibrio species decreased in the intestine and its possible association with the T cell aberration by metabolite alteration in patients with Behcet’s disease (210 characters)

We have previously demonstrated that the phylum Actinobacteria, the family Lactobacillaceae, and the genus Bifidobacterium increased in relative abundance of gut microbiota in patients with Behcet’s disease (BD)....

Jun Shimizu, Takao Kubota, Erika Takada, Kenji Takai… in Clinical Rheumatology (2019)

Article

Outcomes of patients requiring extracorporeal membrane oxygenation in transcatheter aortic valve implantation: a clinical case series

Transcatheter aortic valve implantation (TAVI) has been established as a low-invasive therapy for aortic stenosis, but circulatory collapse necessitating mechanical circulatory support could occur during TAVI ...

Ryosuke Higuchi, Tetsuya Tobaru, Kenichi Hagiya, Mike Saji… in Heart and Vessels (2018)

Article

Novel De Novo KCND3 Mutation in a Japanese Patient with Intellectual Disability, Cerebellar Ataxia, Myoclonus, and Dystonia

Spinocerebellar ataxia 19/22 (SCA19/22) is a rare type of autosomal dominant SCA that was previously described in 11 families. We report the case of a 30-year-old Japanese man presenting with intellectual disa...

Masanori Kurihara, Hiroyuki Ishiura, Takuya Sasaki, Juuri Otsuka… in The Cerebellum (2018)

Article

Expansions of intronic TTTCA and TTTTA repeats in benign adult familial myoclonic epilepsy

Epilepsy is a common neurological disorder, and mutations in genes encoding ion channels or neurotransmitter receptors are frequent causes of monogenic forms of epilepsy. Here we show that abnormal expansions ...

Hiroyuki Ishiura, Koichiro Doi, Jun Mitsui, Jun Yoshimura… in Nature Genetics (2018)

Article

Transcatheter aortic valve implantation in patients on corticosteroid therapy

Transcatheter aortic valve implantation (TAVI) is recommended for patients who are inoperable or at high risk for surgical aortic valve replacement (SAVR). Corticosteroid therapy is considered to be a risk fac...

Ryosuke Higuchi, Tetsuya Tobaru, Kenichi Hagiya, Mike Saji… in Heart and Vessels (2017)

Article

Study on the potential of chemo-mechanical-grinding (CMG) process of sapphire wafer

Chemo-mechanical-grinding (CMG) is a hybrid process which integrates chemical reaction and mechanical grinding between abrasives and workpiece into one process. It has been successfully applied into manufactur...

Ke Wu, Libo Zhou, Jun Shimizu, Teppei Onuki… in The International Journal of Advanced Manu… (2017)

Article

Judkins right guiding catheter bailed out acute aortic insufficiency during balloon aortic valvuloplasty

The introduction of transcatheter aortic valve implantation focuses attention on balloon aortic valvuloplasty (BAV) once again. BAV is effective for several clinical conditions, but fatal complications includi...

Ryosuke Higuchi, Tetsuya Tobaru… in Cardiovascular Intervention and Therapeuti… (2017)

Article

Possible association of proinflammatory cytokines including IL1β and TNFα with enhanced Th17 cell differentiation in patients with Behcet’s disease

We have reported that helper T type 17 (Th17) cells increased in patients with Behcet’s disease (BD). It remains obscure how Th17 cells increase in the patients. We here analyzed whether T cells preferentially...

Jun Shimizu, Kenji Takai, Erika Takada, Naruyoshi Fujiwara… in Clinical Rheumatology (2016)

Article

Cutaneous manifestations of patients with relapsing polychondritis: an association with extracutaneous complications

The aim of this study was to determine the prognostic characteristics of patients with relapsing polychondritis (RP) accompanying cutaneous manifestations in Japan. We analyzed a cohort of 239 patients with RP...

Jun Shimizu, Hiroshi Oka, Yoshihisa Yamano, Kazuo Yudoh… in Clinical Rheumatology (2016)

Chapter

The Immunopathology of Behçet’s Disease

Aberrant immune functions including but not restricted to skewed T cell responses and intrinsic activation of B lymphocytes contributed to the development of Behçet’s disease (BD). Recently, we found that Th17...

Noboru Suzuki, Jun Shimizu in Behçet's Disease (2015)

Article

Singular localization of sodium channel β4 subunit in unmyelinated fibres and its role in the striatum

Voltage-gated Na⁺ channel β-subunits are multifunctional molecules that modulate Na⁺ channel activity and regulate cell adhesion, migration and neurite outgrowth. β-subunits including β4 are known to be highly co...

Haruko Miyazaki, Fumitaka Oyama, Ritsuko Inoue, Toshihiko Aosaki… in Nature Communications (2014)

Article

Transcatheter aortic valve replacement requiring staged percutaneous coronary intervention in Japanese patients with severely calcified ascending aorta: a case report and institution series analysis

Transcatheter aortic valve replacement (TAVR) has emerged as a less invasive therapeutic option for high-risk patients with aortic stenosis (AS) in Europe and US. Data on TAVR are relatively limited in Japan. ...

Mike Saji, Morimasa Takayama, Jun Shimizu… in Cardiovascular Intervention and Therapeuti… (2013)

Article

Serum level of soluble triggering receptor expressed on myeloid cells-1 as a biomarker of disease activity in relapsing polychondritis

We aimed to identify a serum biomarker for evaluating the disease activity of relapsing polychondritis (RP).

Tomoo Sato, Yoshihisa Yamano, Utano Tomaru, Yukiko Shimizu… in Modern Rheumatology (2013)

Article

Clinical features and haplotype analysis of newly identified Japanese patients with gelsolin-related familial amyloidosis of Finnish type

Familial amyloidosis of the Finnish type (FAF) is an autosomal dominant form of systematic amyloidosis characterized by lattice corneal dystrophy, cranial neuropathy, and cutis laxa. Although FAF has been frequen...

Makiko Taira, Hiroyuki Ishiura, Jun Mitsui, Yuji Takahashi… in neurogenetics (2012)

Article

Adult-onset leukoencephalopathies with vanishing white matter with novel missense mutations in EIF2B2, EIF2B3, and EIF2B5

Takashi Matsukawa, Xuemin Wang, Rui Liu, Noel C. Wortham, Yuko Onuki… in neurogenetics (2011)