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Journal Articles

Human CTL-based functional analysis shows the reliability of a munc13-4 protein expression assay for FHL3 diagnosis

Hirofumi Shibata, Takahiro Yasumi, Saeko Shimodera, Eitaro Hiejima, Kazushi Izawa, Tomoki Kawai, Ryutaro Shirakawa, Taizo Wada, Ryuta Nishikomori, Hisanori Horiuchi, Osamu Ohara, Eiichi Ishii, Toshio Heike

Blood (2018) 131 (18): 2016–2025.

https://doi.org/10.1182/blood-2017-10-812503

Published: 2018

Includes: Supplemental data

Journal Articles

Hematopoietic stem cell transplantation in 29 patients hemizygous for hypomorphic IKBKG /NEMO mutations

Blood (2017) 130 (12): 1456–1467.

https://doi.org/10.1182/blood-2017-03-771600

Published: 2017

Includes: Supplemental data

Journal Articles

Disease Modeling and Drug Discovery Using Induced Pluripotent Stem Cells From CINCA Syndrome Patients

Takayuki Tanaka, MD, Akira Ohta, PhD, Masakatsu Yanagimachi, MD, PhD, Ryuta Nishikomori, MD, PhD, Toshio Heike, MD, PhD, Tatsutoshi Nakahata, MD, PhD, Shinya Yamanaka, MD, PhD, Megumu Saito, MD, PhD

Blood (2012) 120 (21): 4680.

https://doi.org/10.1182/blood.V120.21.4680.4680

Published: 2012

Journal Articles

Induced pluripotent stem cells from CINCA syndrome patients as a model for dissecting somatic mosaicism and drug discovery

Blood (2012) 120 (6): 1299–1308.

https://doi.org/10.1182/blood-2012-03-417881

Published: 2012

Includes: Supplemental data

Journal Articles

Frequent somatic mosaicism of NEMO in T cells of patients with X-linked anhidrotic ectodermal dysplasia with immunodeficiency

Blood (2012) 119 (23): 5458–5466.

https://doi.org/10.1182/blood-2011-05-354167

Published: 2012

Includes: Supplemental data

Journal Articles

Rapid diagnosis of FHL3 by flow cytometric detection of intraplatelet Munc13-4 protein

Yuuki Murata, Takahiro Yasumi, Ryutaro Shirakawa, Kazushi Izawa, Hidemasa Sakai, Junya Abe, Naoko Tanaka, Tomoki Kawai, Koichi Oshima, Megumu Saito, Ryuta Nishikomori, Osamu Ohara, Eiichi Ishii, Tatsutoshi Nakahata, Hisanori Horiuchi, Toshio Heike

Blood (2011) 118 (5): 1225–1230.

https://doi.org/10.1182/blood-2011-01-329540

Published: 2011

Includes: Supplemental data

Journal Articles

Decreased Expression In NF-κB Essential Modulator Due to a Novel Splice-Site Mutation Causes Ectodermal Dysplasia with Immunodeficiency

Shuhei Karakawa, M.D, Satoshi Okada, MD, Miyuki Tsumura, BSc, Yoko Mizoguchi, MD, Norioki Ohno, MD, Shin'ichiro Yasunaga, MD, Motoaki Ohtsubo, PhD, Tomoki Kawai, MD, Ryuta Nishikomori, MD, Yoshihiro Takihara, MD, Masao Kobayashi, MD

Blood (2010) 116 (21): 1732.

https://doi.org/10.1182/blood.V116.21.1732.1732

Published: 2010

Journal Articles

A Novel Mutation K673R In STAT1 Impaired the STAT1 Signal Transduction In a dominant– Negative Manner Identified In a Japanese Boy with MSMD

Yoko Mizoguchi, MD, Miyuki Tsumura, B.Sc., Satoshi Okada, MD, Hidemasa Sakai, MD, Ryuta Nishikomori, MD, Shin'ichiro Yasunaga, MD, Motoaki Ohtsubo, PhD, Takuji Murata, MD, Hideto Obata, MD, Takahiro Yasumi, MD, Toshio Heike, MD, Tatsutoshi Nakahata, MD, Yoshihiro Takihara, MD, Masao Kobayashi, MD

Blood (2010) 116 (21): 1734.

https://doi.org/10.1182/blood.V116.21.1734.1734

Published: 2010

Journal Articles

Disease-associated CIAS1 mutations induce monocyte death, revealing low-level mosaicism in mutation-negative cryopyrin-associated periodic syndrome patients

Blood (2008) 111 (4): 2132–2141.

https://doi.org/10.1182/blood-2007-06-094201

Published: 2008

Includes: Supplemental data

Journal Articles

Disease-associated mutations in CIAS1 induce cathepsin B–dependent rapid cell death of human THP-1 monocytic cells

Akihiro Fujisawa, Naotomo Kambe, Megumu Saito, Ryuta Nishikomori, Hideaki Tanizaki, Nobuo Kanazawa, Souichi Adachi, Toshio Heike, Junji Sagara, Takashi Suda, Tatsutoshi Nakahata, Yoshiki Miyachi

Blood (2006) 109 (7): 2903–2911.

https://doi.org/10.1182/blood-2006-07-033597

Published: 2006

Includes: Supplemental data

Journal Articles

Correction of Immunodeficiency Associated with NEMO Mutation by Umbilical Cord Stem Cell Transplantation Using a Reduced-Intensity Conditioning Regimen.

Chikako Tono, MD, PhD, Yoshihiro Takahashi, MD, PhD, Kiminori Terui, MD, PhD, Shinya Sasaki, MD, PhD, Takuya Kamio, MD, PhD, Satoru Tandai, MD, PhD, Tomohiko Sato, MD, Ko Kudo, MD, Tsutomu Toki, PhD, Naoki Tachibana, MD, PhD, Takakazu Yoshioka, MD, PhD, Tatsutoshi Nakahata, MD, PhD, Tomohiro Morio, MD, PhD, Ryuta Nishikomori, MD, PhD, Etsuro Ito, MD, PhD

Blood (2006) 108 (11): 5392.

https://doi.org/10.1182/blood.V108.11.5392.5392

Published: 2006

Journal Articles

Early-onset sarcoidosis and CARD15 mutations with constitutive nuclear factor-κB activation: common genetic etiology with Blau syndrome

Nobuo Kanazawa, Ikuo Okafuji, Naotomo Kambe, Ryuta Nishikomori, Mami Nakata-Hizume, Sonoko Nagai, Akihiko Fuji, Takenosuke Yuasa, Akira Manki, Yoshihiko Sakurai, Mitsuru Nakajima, Hiroko Kobayashi, Ikuma Fujiwara, Hiroyuki Tsutsumi, Atsushi Utani, Chikako Nishigori, Toshio Heike, Tatsutoshi Nakahata, Yoshiki Miyachi

Blood (2005) 105 (3): 1195–1197.

https://doi.org/10.1182/blood-2004-07-2972

Published: 2005

Journal Articles

X-linked ectodermal dysplasia and immunodeficiency caused by reversion mosaicism of NEMO reveals a critical role for NEMO in human T-cell development and/or survival

Ryuta Nishikomori, Hiroshi Akutagawa, Kyoko Maruyama, Mami Nakata-Hizume, Katsuyuki Ohmori, Kazunori Mizuno, Akihiro Yachie, Takahiro Yasumi, Takashi Kusunoki, Toshio Heike, Tatsutoshi Nakahata

Blood (2004) 103 (12): 4565–4572.

https://doi.org/10.1182/blood-2003-10-3655

Published: 2004

Journal Articles

Development of both human connective tissue-type and mucosal-type mast cells in mice from hematopoietic stem cells with identical distribution pattern to human body

Naotomo Kambe, Hidefumi Hiramatsu, Mika Shimonaka, Hisanori Fujino, Ryuta Nishikomori, Toshio Heike, Mamoru Ito, Kimio Kobayashi, Yoshito Ueyama, Norihisa Matsuyoshi, Yoshiki Miyachi, Tatsutoshi Nakahata

Blood (2004) 103 (3): 860–867.

https://doi.org/10.1182/blood-2003-04-1160

Published: 2004

Journal Articles

Complete reconstitution of human lymphocytes from cord blood CD34 + cells using the NOD/SCID/γ c null mice model

Hidefumi Hiramatsu, Ryuta Nishikomori, Toshio Heike, Mamoru Ito, Kimio Kobayashi, Kenji Katamura, Tatsutoshi Nakahata

Blood (2003) 102 (3): 873–880.

https://doi.org/10.1182/blood-2002-09-2755

Published: 2003

NARROW

Human CTL-based functional analysis shows the reliability of a munc13-4 protein expression assay for FHL3 diagnosis

Hematopoietic stem cell transplantation in 29 patients hemizygous for hypomorphic IKBKG /NEMO mutations

Disease Modeling and Drug Discovery Using Induced Pluripotent Stem Cells From CINCA Syndrome Patients

Induced pluripotent stem cells from CINCA syndrome patients as a model for dissecting somatic mosaicism and drug discovery

Frequent somatic mosaicism of NEMO in T cells of patients with X-linked anhidrotic ectodermal dysplasia with immunodeficiency

Rapid diagnosis of FHL3 by flow cytometric detection of intraplatelet Munc13-4 protein

Decreased Expression In NF-κB Essential Modulator Due to a Novel Splice-Site Mutation Causes Ectodermal Dysplasia with Immunodeficiency

A Novel Mutation K673R In STAT1 Impaired the STAT1 Signal Transduction In a dominant– Negative Manner Identified In a Japanese Boy with MSMD

Disease-associated CIAS1 mutations induce monocyte death, revealing low-level mosaicism in mutation-negative cryopyrin-associated periodic syndrome patients

Disease-associated mutations in CIAS1 induce cathepsin B–dependent rapid cell death of human THP-1 monocytic cells

Correction of Immunodeficiency Associated with NEMO Mutation by Umbilical Cord Stem Cell Transplantation Using a Reduced-Intensity Conditioning Regimen.

Early-onset sarcoidosis and CARD15 mutations with constitutive nuclear factor-κB activation: common genetic etiology with Blau syndrome

X-linked ectodermal dysplasia and immunodeficiency caused by reversion mosaicism of NEMO reveals a critical role for NEMO in human T-cell development and/or survival

Development of both human connective tissue-type and mucosal-type mast cells in mice from hematopoietic stem cells with identical distribution pattern to human body

Complete reconstitution of human lymphocytes from cord blood CD34 + cells using the NOD/SCID/γ c null mice model

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American Society of Hematology

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American Society of Hematology

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