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Journal Articles

A Comparison of Myelopoiesis from Induced Pluripotent Stem Cells with a Mutation in ELANE between Cyclic Neutropenia and Severe Congenital Neutropenia

Satoshi Saito, MD, Shiho Nishimura, MD, Miyuki Tsumura, PhD, Yoko Mizoguchi, MD PhD, Sonoko Sakata, MD, Aya Furue, MD, Mizuka Miki, MD, Hiroshi Kawaguchi, MD PhD, Takafumi Hiramoto, PhD, Yasuhiro Ebihara, MD PhD, Kohichiro Tsuji, MD, Tatsutoshi Nakahata, MD, PhD, Masao Kobayashi, MD PhD

Blood (2015) 126 (23): 2193.

https://doi.org/10.1182/blood.V126.23.2193.2193

Published: 2015

Journal Articles

MSMD Patients with IFN-g-STAT1 Signaling Defect Present Enhanced Osteoclastogenesis and Bone Resorption

Shiho Nishimura, MD, Miyuki Tsumura, PhD, Osamu Hirata, MD PhD, Reiko Kagawa, MD, Yoko Mizoguchi, MD PhD, Satoshi Okada, MD PhD, Masao Kobayashi, MD PhD

Blood (2015) 126 (23): 3591.

https://doi.org/10.1182/blood.V126.23.3591.3591

Published: 2015

Journal Articles

Excessive Nitric Oxide Production of CGD Neutrophils Induces the Down-Regulation of NOS3 and EDN1 Expression in Human Endothelial Cells

Akari Utsunomiya, MD, Miyuki Tsumura, PhD, Norioki Ohno, MDPhD, Mizuka Miki, MD PhD, Satoshi Okada, MD PhD, Hiroshi Kawaguchi, MDPhD, Kazuhiro Nakamura, MD PhD, Masao Kobayashi, MD PhD

Blood (2014) 124 (21): 2726.

https://doi.org/10.1182/blood.V124.21.2726.2726

Published: 2014

Journal Articles

STAT1 Gain-of-Function in Patients with Chronic Mucocutaneous Candidiasis Can be Detected By the Excessive Phosphorylation of STAT1 in Peripheral Blood Monocytes

Yoko Mizoguchi, MD PhD, Miyuki Tsumura, PhD, Satoshi Okada, MD PhD, Osamu Hirata, MD PhD, Shizuko Minegishi, Nobuyuki Hyakuna, MD PhD, Jean-Laurent Casanova, MD PhD, Tomohiro Morio, MD PhD, Masao Kobayashi, MD PhD

Blood (2014) 124 (21): 4111.

https://doi.org/10.1182/blood.V124.21.4111.4111

Published: 2014

Journal Articles

Identification of Integrin β3 L718P Mutation in a Pedigree with Autosomal Dominant Macrothrombocytopenia

Yoshiyuki Kobayashi, MD, Hirotaka Matsui, MD, Akinori Kanai, PhD, Miyuki Tsumura, MSc, Satoshi Okada, MD, PhD, Mizuka Miki, MD, Kazuhiro Nakamura, MD, PhD, Shinji Kunishima, PhD, Toshiya Inaba, MD, PhD, Masao Kobayashi, MD, PhD

Blood (2012) 120 (21): 1081.

https://doi.org/10.1182/blood.V120.21.1081.1081

Published: 2012

Journal Articles

Gain-of-Phosphorylation Mutations in Coiled-Coil and DNA-Binding Domain of STAT1 Identified in Japanese Patients with Chronic Mucocutaneous Candidiasis

Yoko Mizoguchi, MD, Satoshi Okada, MD, PhD, Miyuki Tsumura, MSc, Osamu Hirata, MD, Jean-Laurent Casanova, MD, PhD, Tomohiro Morio, MD, PhD, Masao Kobayashi, MD, PhD

Blood (2012) 120 (21): 4831.

https://doi.org/10.1182/blood.V120.21.4831.4831

Published: 2012

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

A Novel Splicing Mutation in NEMO Gene in a Patient with X-Linked Ectodermal Dysplasia with Immunodeficiency.

Syuhei Karakawa, MD, Satoshi Okada, MD, Miyuki Tsumura, MA, Yoko Mizoguchi, MD, Tomoki Kawai, MD, Ryota Nishikomori, MD, Shin'ichiro Yasunaga, MD, Yoshihiro Takihara, MD, Masao Kobayashi, MD, PhD

Blood (2009) 114 (22): 2665.

https://doi.org/10.1182/blood.V114.22.2665.2665

Published: 2009

Journal Articles

Novel Heterozygous Mutation 572insA in TACI Identified in a Patient with Selective IgA Deficiency.

Satoshi Okada, MD, PhD, Teruyuki Kajiume, MD, PhD, Miyuki Tsumura, MSc, Kenichiro Shirao, MD, Yoshinori Ohno, MSc, Shin’ichiro Yasunaga, MD, PhD, Motoaki Ohtsubo, PhD, Mostafa Mofamed Sira, Hirokazu Kanegane, MD, PhD, Toshio Miyawaki, MD, PhD, Yoshihiro Takihara, MD, PhD, Masao Kobayashi, MD, PhD

Blood (2008) 112 (11): 1473.

https://doi.org/10.1182/blood.V112.11.1473.1473

Published: 2008

Journal Articles

Association of Neurodevelopmental Abnormalities Is a Common Clinical Character in Japanese Patients with Severe Congenital Neutropenia Due to HAX1 Deficiency.

Satoshi Okada, MD, Nobutsune Ishikawa, M.D., Kenichiro Shirao, M.D., Miyuki Tsumura, M.Sc., Takashi Satoh, M.D., Yoshinori Ohno, M.Sc., Shin’ichiro Yasunaga, Ph.D., Motoaki Ohtsubo, Ph.D., Yoshihiro Takihara, Ph.D., Masao Kobayashi, M.D.

Blood (2007) 110 (11): 665.

https://doi.org/10.1182/blood.V110.11.665.665

Published: 2007

Journal Articles

A Novel Mutation 774del4 in IFNGR1 , Which Produces Truncated Form of Interferon γ Receptor 1, Causes a Dominant-Negative Effect on Interferon γ Signal Transduction.

Satoshi Okada, MD, Nobutsune Ishikawa, M.D., Kenichirou Shirao, M.D., Hiroshi Kawaguchi, M.D., Miyuki Tsumura, Ph.D., Yoshinori Ohno, Ph.D., Shin’ichiro Yasunaga, Ph.D., Motoaki Ohtsubo, Ph.D., Yoshihiro Takihara, Ph.D., Masao Kobayashi, M.D.

Blood (2006) 108 (11): 1246.

https://doi.org/10.1182/blood.V108.11.1246.1246

Published: 2006

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A Comparison of Myelopoiesis from Induced Pluripotent Stem Cells with a Mutation in ELANE between Cyclic Neutropenia and Severe Congenital Neutropenia

MSMD Patients with IFN-g-STAT1 Signaling Defect Present Enhanced Osteoclastogenesis and Bone Resorption

Excessive Nitric Oxide Production of CGD Neutrophils Induces the Down-Regulation of NOS3 and EDN1 Expression in Human Endothelial Cells

STAT1 Gain-of-Function in Patients with Chronic Mucocutaneous Candidiasis Can be Detected By the Excessive Phosphorylation of STAT1 in Peripheral Blood Monocytes

Identification of Integrin β3 L718P Mutation in a Pedigree with Autosomal Dominant Macrothrombocytopenia

Gain-of-Phosphorylation Mutations in Coiled-Coil and DNA-Binding Domain of STAT1 Identified in Japanese Patients with Chronic Mucocutaneous Candidiasis

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

A Novel Splicing Mutation in NEMO Gene in a Patient with X-Linked Ectodermal Dysplasia with Immunodeficiency.

Novel Heterozygous Mutation 572insA in TACI Identified in a Patient with Selective IgA Deficiency.

Association of Neurodevelopmental Abnormalities Is a Common Clinical Character in Japanese Patients with Severe Congenital Neutropenia Due to HAX1 Deficiency.

A Novel Mutation 774del4 in IFNGR1 , Which Produces Truncated Form of Interferon γ Receptor 1, Causes a Dominant-Negative Effect on Interferon γ Signal Transduction.

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