Development of an exon skipping therapy for X-linked Alport syndrome with truncating variants in COL4A5

por Tomohiko Yamamura, Tomoko Horinouchi, Tomomi Adachi, Maki Terakawa, Yutaka Takaoka, Kohei Omachi, Minoru Takasato, Kiyosumi Takaishi, Takao Shoji, Yoshiyuki Onishi, Yoshito Kanazawa, Makoto Koizumi, Yasuko Tomono, Aki Sugano, Akemi Shono, Shogo Minamikawa, China Nagano, Nana Sakakibara, Shinya Ishiko, Yuya Aoto, Misato Kamura, Yutaka Harita, Kenichiro Miura, Shoichiro Kanda, Naoya Morisada, Rini Rossanti, Ming Juan Ye, Yoshimi Nozu, Masafumi Matsuo, Hirofumi Kai, Kazumoto Iijima, Kandai Nozu
Publicado 2020

Heterozygous missense variant of the proteasome subunit β-type 9 causes neonatal-onset autoinflammation and immunodeficiency

por Nobuo Kanazawa, Hiroaki Hemmi, Noriko Kinjo, Hidenori Ohnishi, Jun Hamazaki, Hiroyuki Mishima, Akira Kinoshita, Tsunehiro Mizushima, Satoru Hamada, Kazuya Hamada, Norio Kawamoto, Saori Kadowaki, Yoshitaka Honda, Kazushi Izawa, Ryuta Nishikomori, Miyuki Tsumura, Yusuke Yamashita, Shinobu Tamura, Takashi Orimo, Toshiya Ozasa, Takashi Kato, Izumi Sasaki, Yuri Fukuda-Ohta, Naoko Wakaki-Nishiyama, Yutaka Inaba, Kayo Kunimoto, Satoshi Okada, Takeshi Taketani, Koichi Nakanishi, Shigeo Murata, Koh-ichiro Yoshiura, Tsuneyasu Kaisho
Publicado 2021

SORL1 is genetically associated with late-onset Alzheimer's disease in Japanese, Koreans and Caucasians.

por Akinori Miyashita, Asako Koike, Gyungah Jun, Li-San Wang, Satoshi Takahashi, Etsuro Matsubara, Takeshi Kawarabayashi, Mikio Shoji, Naoki Tomita, Hiroyuki Arai, Takashi Asada, Yasuo Harigaya, Masaki Ikeda, Masakuni Amari, Haruo Hanyu, Susumu Higuchi, Takeshi Ikeuchi, Masatoyo Nishizawa, Masaichi Suga, Yasuhiro Kawase, Hiroyasu Akatsu, Kenji Kosaka, Takayuki Yamamoto, Masaki Imagawa, Tsuyoshi Hamaguchi, Masahito Yamada, Takashi Morihara, Masatoshi Takeda, Takeo Takao, Kenji Nakata, Yoshikatsu Fujisawa, Ken Sasaki, Ken Watanabe, Kenji Nakashima, Katsuya Urakami, Terumi Ooya, Mitsuo Takahashi, Takefumi Yuzuriha, Kayoko Serikawa, Seishi Yoshimoto, Ryuji Nakagawa, Jong-Won Kim, Chang-Seok Ki, Hong-Hee Won, Duk L Na, Sang Won Seo, Inhee Mook-Jung, Alzheimer Disease Genetics Consortium, Peter St George-Hyslop, Richard Mayeux, Jonathan L Haines, Margaret A Pericak-Vance, Makiko Yoshida, Nao Nishida, Katsushi Tokunaga, Ken Yamamoto, Shoji Tsuji, Ichiro Kanazawa, Yasuo Ihara, Gerard D Schellenberg, Lindsay A Farrer, Ryozo Kuwano
Publicado 2013

Medial blepharosynechioplasty: a new surgical concept for severe dry eye

por Sasaki T, Ota T, Ookura Y, Sugiyama K
Publicado 2012

Visibility of the Retina Through an Air-Filled Anterior Chamber During Simultaneous Vitrectomy and Descemet’s Stripping Automated Endothelial Keratoplasty

por Yokogawa H, Kobayashi A, Mori N, Nishino T, Sugiyama K
Publicado 2020

Ex vivo laser confocal microscopy findings of cultured Acanthamoeba trophozoites

por Yamazaki N, Kobayashi A, Yokogawa H, Ishibashi Y, Oikawa Y, Tokoro M, Sugiyama K
Publicado 2012

Bowman’s layer encystment in cases of persistent Acanthamoeba keratitis

por Yokogawa H, Kobayashi A, Yamazaki N, Ishibashi Y, Oikawa Y, Tokoro M, Sugiyama K
Publicado 2012

Exposure to Maternal Immune Activation Causes Congenital Unfolded Protein Response Defects and Increases the Susceptibility to Postnatal Inflammatory Stimulation in Offspring

por Shimizu Y, Tsukada T, Sakata-Haga H, Sakai D, Shoji H, Saikawa Y, Hatta T
Publicado 2021

Surgery-induced iris abnormalities after Descemet membrane endothelial keratoplasty and their impact on postoperative clinical outcomes

por Mori N, Yokogawa H, Kobayashi A, Nishino T, Sugiyama K
Publicado 2019

In vivo Imaging of Reis–Bücklers and Thiel–Behnke Corneal Dystrophies Using Anterior Segment Optical Coherence Tomography

por Nishino T, Kobayashi A, Mori N, Yokogawa H, Sugiyama K
Publicado 2020

Complex comprised of dextran magnetite and conjugated cisplatin exhibiting selective hyperthermic and controlled-release potential

por Akinaga Sonoda, Norihisa Nitta, Ayumi Nitta-Seko, et al
Publicado 2010

A 10-year review of underlying diseases for endothelial keratoplasty (DSAEK/DMEK) in a tertiary referral hospital in Japan

por Nishino T, Kobayashi A, Yokogawa H, Mori N, Masaki T, Sugiyama K
Publicado 2018

Clinical features of single and repeated globe rupture after penetrating keratoplasty

por Murata N, Yokogawa H, Kobayashi A, Yamazaki N, Sugiyama K
Publicado 2013

Changing indications and surgical techniques for keratoplasty during a 16-year period (2003–2018) at a tertiary referral hospital in Japan

por Nishino T, Kobayashi A, Yokogawa H, Mori N, Sugiyama K
Publicado 2019

Intraocular pressure and visual field changes in normal-tension glaucoma patients treated using either unoprostone or latanoprost: a prospective comparative study

por Takemoto D, Higashide T, Saito Y, Ohkubo S, Udagawa S, Takeda H, Sugiyama K
Publicado 2017

Air-insufflated high-definition dacryoendoscopy yields significantly better image quality than conventional dacryoendoscopy

por Sasaki T, Sounou T, Tsuji H, Sugiyama K
Publicado 2017

Use of viscoelastic substance in ophthalmic surgery — focus on sodium hyaluronate

por Tomomi Higashide, Kazuhisa Sugiyama
Publicado 2008

A sliding technique to load thin endothelial donor lamella onto Busin glide for Descemet-stripping automated endothelial keratoplasty

por Kobayashi A, Yokogawa H, Sugiyama K
Publicado 2012

Localized vitreous adhesion to the retina after ocular contusion with a baseball

por Kimura M, Nishimura A, Sugiyama K
Publicado 2012

Cortical gyrification in schizophrenia: current perspectives

por Matsuda Y, Ohi K
Publicado 2018