Autosomal recessive complete STAT1 deficiency caused by compound heterozygous intronic mutations von Sakata, Sonoko, Tsumura, Miyuki, Matsubayashi, Tadashi, Karakawa, Shuhei, Kimura, Shunsuke, Tamaura, Moe, Okano, Tsubasa, Naruto, Takuya, Mizoguchi, Yoko, Kagawa, Reiko, Nishimura, Shiho, Imai, Kohsuke, Le Voyer, Tom, Casanova, Jean-Laurent, Bustamante, Jacinta, Morio, Tomohiro, Ohara, Osamu, Kobayashi, Masao, Okada, Satoshi

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An adult case of suspected A20 haploinsufficiency mimicking polyarteritis nodosa von Niwano, Tomoko, Hosoya, Tadashi, Kadowaki, Saori, Toyofuku, Etsushi, Naruto, Takuya, Shimizu, Masaki, Ohnishi, Hidenori, Koike, Ryuji, Morio, Tomohiro, Imai, Kohsuke, Yoshida, Masayuki, Yasuda, Shinsuke

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Somatic mosaicism of a heterogeneous mutation of ACTA1 in nemaline myopathy von Yokoi, Takayuki, Sei, Kenshi, Enomoto, Yumi, Naruto, Takuya, Kurosawa, Kenji

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Leucine-rich alpha-2-glycoprotein 1 and angiotensinogen as diagnostic biomarkers for Kawasaki disease von Yanagimachi, Masakatsu, Fukuda, Sayaka, Tanaka, Fumiko, Iwamoto, Mari, Takao, Chiho, Oba, Kunihiro, Suzuki, Natsuko, Kiyohara, Koji, Kuranobu, Dai, Tada, Norimasa, Nagashima, Ayako, Ishii, Taku, Ino, Yoko, Kimura, Yayoi, Nawa, Nobutoshi, Fujiwara, Takeo, Naruto, Takuya, Morio, Tomohiro, Doi, Shouzaburo, Mori, Masaaki

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Whole-Exome Sequencing-Based Approach for Germline Mutations in Patients with Inborn Errors of Immunity von Okano, Tsubasa, Imai, Kohsuke, Naruto, Takuya, Okada, Satoshi, Yamashita, Motoi, Yeh, Tzu-wen, Ono, Shintaro, Tanaka, Keisuke, Okamoto, Keisuke, Tanita, Kay, Matsumoto, Kazuaki, Toyofuku, Etsushi, Kumaki-Matsumoto, Eri, Okamura, Miko, Ueno, Hiroo, Ogawa, Seishi, Ohara, Osamu, Takagi, Masatoshi, Kanegane, Hirokazu, Morio, Tomohiro

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Cantú syndrome with novel pathogenic variant in nucleotide‐binding domain 1 of ABCC9 von Yokoi, Takayuki, Enomoto, Yumi, Tsurusaki, Yoshinori, Naruto, Takuya, Kurosawa, Kenji

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Frequent silencing of the candidate tumor suppressor TRIM58 by promoter methylation in early-stage lung adenocarcinoma von Kajiura, Koichiro, Masuda, Kiyoshi, Naruto, Takuya, Kohmoto, Tomohiro, Watabnabe, Miki, Tsuboi, Mitsuhiro, Takizawa, Hiromitsu, Kondo, Kazuya, Tangoku, Akira, Imoto, Issei

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Tatton-Brown-Rahman syndrome with a novel DNMT3A mutation presented severe intellectual disability and autism spectrum disorder von Yokoi, Takayuki, Enomoto, Yumi, Naruto, Takuya, Kurosawa, Kenji, Higurashi, Norimichi

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HLA Class I-Mediated Control of HIV-1 in the Japanese Population, in Which the Protective HLA-B57 and HLA-B27 Alleles Are Absent von NARUTO, Takuya, GATANAGA, Hiroyuki, NELSON, George, SAKAI, Keiko, CARRINGTON, Mary, OKA, Shinichi, TAKIGUCHI, Masafumi

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Monoallelic KRAS (G13C) mutation triggers dysregulated expansion in induced pluripotent stem cell-derived hematopoietic progenitor cells von Lin, Huan-Ting, Takagi, Masatoshi, Kubara, Kenji, Yamazaki, Kazuto, Michikawa, Fumiko, Okumura, Takashi, Naruto, Takuya, Morio, Tomohiro, Miyazaki, Koji, Taniguchi, Hideki, Otsu, Makoto

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Status of KRAS in iPSCs Impacts upon Self-Renewal and Differentiation Propensity von Kubara, Kenji, Yamazaki, Kazuto, Ishihara, Yasuharu, Naruto, Takuya, Lin, Huan-Ting, Nishimura, Ken, Ohtaka, Manami, Nakanishi, Mahito, Ito, Masashi, Tsukahara, Kappei, Morio, Tomohiro, Takagi, Masatoshi, Otsu, Makoto

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Somatic mutation in RUNX1 underlies mucocutaneus inflammatory manifestations von Okano, Tsubasa, Nishimura, Akira, Inoue, Kento, Naruto, Takuya, Tokoro, Shown, Tomoda, Takahiro, Kamiya, Takahiro, Simbo, Asami, Akutsu, Yuko, Okamoto, Keisuke, Yeh, Tzuwen, Isoda, Takeshi, Yanagimachi, Masakatsu, Kajiwara, Michiko, Imai, Kohsuke, Kanegane, Hirokazu, Mori, Masaaki, Morio, Tomohiro, Takagi, Masatoshi

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Toll-Like Receptor 9 Plays a Pivotal Role in Angiotensin II-Induced Atherosclerosis von Fukuda, Daiju, Nishimoto, Sachiko, Aini, Kunduziayi, Tanaka, Atsushi, Nishiguchi, Tsuyoshi, Kim-Kaneyama, Joo-Ri, Lei, Xiao-Feng, Masuda, Kiyoshi, Naruto, Takuya, Tanaka, Kimie, Higashikuni, Yasutomi, Hirata, Yoichiro, Yagi, Shusuke, Kusunose, Kenya, Yamada, Hirotsugu, Soeki, Takeshi, Imoto, Issei, Akasaka, Takashi, Shimabukuro, Michio, Sata, Masataka

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High‐throughput analysis revealed the unique immunoglobulin gene rearrangements in plasmacytoma‐like post‐transplant lymphoproliferative disorder von Hoshino, Akihiro, Nishimura, Akira, Naruto, Takuya, Okano, Tsubasa, Matsumoto, Kazuaki, Okamoto, Keisuke, Shintaku, Hiroshi, Tokoro, Shown, Okamoto, Hiroyuki, Wada, Taizo, Takagi, Masatoshi, Imai, Kohsuke, Kanegane, Hirokazu, Morio, Tomohiro

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Host-specific adaptation of HIV-1 subtype B in the Japanese population von Chikata, Takayuki, Carlson, Jonathan M, Tamura, Yoshiko, Borghan, Mohamed Ali, Naruto, Takuya, Hashimoto, Masao, Murakoshi, Hayato, Le, Anh Q, Mallal, Simon, John, Mina, Gatanaga, Hiroyuki, Oka, Shinichi, Brumme, Zabrina L, Takiguchi, Masafumi

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A short-term three dimensional culture-based drug sensitivity test is feasible for malignant bone tumors von Goto, Hiroaki, Ohtsu, Takashi, Ito, Mieko, Sagisaka, Maiko, Naruto, Takuya, Nagai, Jun-ichi, Kitagawa, Norihiko, Tanaka, Mio, Yanagimachi, Masakatsu, Hiroshima, Yukihiko, Miyagi, Yohei

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A severe form of Ellis-van Creveld syndrome caused by novel mutations in EVC2 von Ohashi, Ikuko, Enomoto, Yumi, Naruto, Takuya, Tsurusaki, Yoshinori, Kuroda, Yukiko, Ishikawa, Hiroshi, Ohyama, Makiko, Aida, Noriko, Nishimura, Gen, Kurosawa, Kenji

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P287: Wilms tumor in a patient with FBXW7-related neurodevelopmental syndrome von Saito, Yoko, Kuroda, Yukiko, Keino, Dai, Enomoto, Yumi, Naruto, Takuya, Yanagimachi, Masakatsu, Kurosawa, Kenji

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Targeted exome sequencing and chromosomal microarray for the molecular diagnosis of nevoid basal cell carcinoma syndrome von Matsudate, Yoshihiro, Naruto, Takuya, Hayashi, Yumiko, Minami, Mitsuyoshi, Tohyama, Mikiko, Yokota, Kenji, Yamada, Daisuke, Imoto, Issei, Kubo, Yoshiaki

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PADI4 and the HLA-DRB1 shared epitope in juvenile idiopathic arthritis von Hisa, Kaori, Yanagimachi, Masakatsu D, Naruto, Takuya, Miyamae, Takako, Kikuchi, Masako, Hara, Rhoki, Imagawa, Tomoyuki, Yokota, Shumpei, Mori, Masaaki

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