Common TFIIH recruitment mechanism in global genome and transcription-coupled repair subpathways

por Okuda, Masahiko, Nakazawa, Yuka, Guo, Chaowan, Ogi, Tomoo, Nishimura, Yoshifumi
Publicado 2017

A rapid non-radioactive technique for measurement of repair synthesis in primary human fibroblasts by incorporation of ethynyl deoxyuridine (EdU)

por Limsirichaikul, Siripan, Niimi, Atsuko, Fawcett, Heather, Lehmann, Alan, Yamashita, Shunichi, Ogi, Tomoo
Publicado 2009

Paradoxical Reaction in a Patient with Hidradenitis Suppurativa Undergoing Adalimumab Treatment

por IKEYA, Soichiro, TAKEICHI, Takuya, TAKI, Tomoki, MURO, Yoshinao, OGI, Tomoo, AKIYAMA, Masashi
Publicado 2021

SETDB1, HP1 and SUV39 promote repositioning of 53BP1 to extend resection during homologous recombination in G2 cells

por Alagoz, Meryem, Katsuki, Yoko, Ogiwara, Hideaki, Ogi, Tomoo, Shibata, Atsushi, Kakarougkas, Andreas, Jeggo, Penny
Publicado 2015

Deep Phenotyping of Superficial Epidermolytic Ichthyosis due to a Recurrent Mutation in KRT2

por Suzuki, Yuika, Takeichi, Takuya, Tanahashi, Kana, Muro, Yoshinao, Suga, Yasushi, Ogi, Tomoo, Akiyama, Masashi
Publicado 2022

Two Cases of Porokeratosis with MVD Mutations, in Association with Bullous Pemphigoid

por ARISAWA, Yuki, ITO, Yasutoshi, TANAHASHI, Kana, MURO, Yoshinao, OGI, Tomoo, TAKEICHI, Takuya, AKIYAMA, Masashi
Publicado 2021

Two children with hypophosphatasia with a heterozygous c.1559delT variant in the ALPL gene, the most common variant in Japanese populations

por Kitoh, Hiroshi, Izawa, Masako, Kaneko, Hiroshi, Kitamura, Akiko, Matsuyama, Saori, Kato, Kohji, Ogi, Tomoo
Publicado 2022

Inducing multiple nicks promotes interhomolog homologous recombination to correct heterozygous mutations in somatic cells

por Tomita, Akiko, Sasanuma, Hiroyuki, Owa, Tomoo, Nakazawa, Yuka, Shimada, Mayuko, Fukuoka, Takahiro, Ogi, Tomoo, Nakada, Shinichiro
Publicado 2023

Functional Comparison of XPF Missense Mutations Associated to Multiple DNA Repair Disorders

por Marín, Maria, Ramírez, María José, Aza Carmona, Miriam, Jia, Nan, Ogi, Tomoo, Bogliolo, Massimo, Surrallés, Jordi
Publicado 2019

Gene Expression Profile at the Motor Endplate of the Neuromuscular Junction of Fast-Twitch Muscle

por Huang, Kun, Li, Jin, Ito, Mikako, Takeda, Jun-Ichi, Ohkawara, Bisei, Ogi, Tomoo, Masuda, Akio, Ohno, Kinji
Publicado 2020

InMeRF: prediction of pathogenicity of missense variants by individual modeling for each amino acid substitution

por Takeda, Jun-ichi, Nanatsue, Kentaro, Yamagishi, Ryosuke, Ito, Mikako, Haga, Nobuhiko, Hirata, Hiromi, Ogi, Tomoo, Ohno, Kinji
Publicado 2020

Severe achondroplasia due to two de novo variants in the transmembrane domain of FGFR3 on the same allele: A case report

por Nagata, Tadashi, Matsushita, Masaki, Mishima, Kenichi, Kamiya, Yasunari, Kato, Kohji, Toyama, Miho, Ogi, Tomoo, Ishiguro, Naoki, Kitoh, Hiroshi
Publicado 2020

Odontogenic keratocysts are an important clue for diagnosing basal cell nevus syndrome

por Kaibuchi-Ando, Kaori, Takeichi, Takuya, Ito, Yasutoshi, Takeuchi, So, Yamashita, Yuta, Yamada, Motohito, Muro, Yoshinao, Ogi, Tomoo, Akiyama, Masashi
Publicado 2021

Calcification in dermal fibroblasts from a patient with GGCX syndrome accompanied by upregulation of osteogenic molecules

por Okubo, Yumi, Masuyama, Ritsuko, Iwanaga, Akira, Koike, Yuta, Kuwatsuka, Yutaka, Ogi, Tomoo, Yamamoto, Yosuke, Endo, Yuichiro, Tamura, Hiroshi, Utani, Atsushi
Publicado 2017

Aicardi–Goutières syndrome with SAMHD1 deficiency can be diagnosed by unscheduled DNA synthesis test

por Senju, Chikako, Nakazawa, Yuka, Shimada, Mayuko, Iwata, Dai, Matsuse, Michiko, Tanaka, Katsumi, Miyazaki, Yasushi, Moriwaki, Shinichi, Mitsutake, Norisato, Ogi, Tomoo
Publicado 2022

PCNA ubiquitylation ensures timely completion of unperturbed DNA replication in fission yeast

por Daigaku, Yasukazu, Etheridge, Thomas J., Nakazawa, Yuka, Nakayama, Mayumi, Watson, Adam T., Miyabe, Izumi, Ogi, Tomoo, Osborne, Mark A., Carr, Antony M.
Publicado 2017

Next-Generation Sequencing to Detect Pathogens in Pediatric Febrile Neutropenia: A Single-Center Retrospective Study of 112 Cases

por Horiba, Kazuhiro, Torii, Yuka, Okumura, Toshihiko, Takeuchi, Suguru, Suzuki, Takako, Kawada, Jun-ichi, Muramatsu, Hideki, Takahashi, Yoshiyuki, Ogi, Tomoo, Ito, Yoshinori
Publicado 2021

Global landscape of replicative DNA polymerase usage in the human genome

por Koyanagi, Eri, Kakimoto, Yoko, Minamisawa, Tamiko, Yoshifuji, Fumiya, Natsume, Toyoaki, Higashitani, Atsushi, Ogi, Tomoo, Carr, Antony M., Kanemaki, Masato T., Daigaku, Yasukazu
Publicado 2022

Mitochondria-associated membrane collapse impairs TBK1-mediated proteostatic stress response in ALS

por Watanabe, Seiji, Murata, Yuri, Oka, Yasuyoshi, Oiwa, Kotaro, Horiuchi, Mai, Iguchi, Yohei, Komine, Okiru, Sobue, Akira, Katsuno, Masahisa, Ogi, Tomoo, Yamanaka, Koji
Publicado 2023

Exome sequencing of Japanese schizophrenia multiplex families supports the involvement of calcium ion channels

por Toyama, Miho, Takasaki, Yuto, Branko, Aleksic, Kimura, Hiroki, Kato, Hidekazu, Nawa, Yoshihiro, Kushima, Itaru, Ishizuka, Kanako, Shimamura, Teppei, Ogi, Tomoo, Ozaki, Norio
Publicado 2022