研究活動
Research Activities

研究活動
Research Activities

Home › 研究活動 › 主任研究者 › 齋藤 潤 教授

主任研究者
Principal Investigators

臨床応用研究部門  齋藤 潤 教授

発表論文

Kase N, Kitagawa Y, Ikenaka A, Niwa A, Saito MK

A concise in vitro model for evaluating interactions between macrophage and skeletal muscle cells during muscle regeneration. Frontiers in Cell and Developmental Biology, 2023 May 18;11:1022081.

Hayashi T, Yano N, Kora K, Yokoyama A, Maizuru K, Kayaki T, Nishikawa K, Osawa M, Niwa A, Takenouchi T, Hijikata A, Shirai T, Suzuki H, Kosaki K, Saito MK, Takita J, Yoshida T.

Involvement of mTOR pathway in neurodegeneration in NSF-related developmental and epileptic encephalopathy Hum Mol Genet, 2023 May 5;32(10):1683-1697.

Ikenaka A, Kitagawa Y, Yoshida M, Lin CY, Niwa A, Nakahata T, Saito MK.

SMN promotes mitochondrial metabolic maturation during myogenesis by regulating the MYOD-miRNA axis Life Sci Alliance, 2023 Jan 5;6(3):e202201457.

Oh S, Niwa A, Nagahashi A, Asaka I, Nakahata T, Saito MK.

iPS cells from Chediak-Higashi syndrome patients recapitulate the giant granules in myeloid cells Pediatr Int, 2022 Jan;64(1):e15390.

Linder MI, Mizoguchi Y, Hesse S, Csaba G, Tatematsu M, Łyszkiewicz M, Ziȩtara N, Jeske T, Hastreiter M, Rohlfs M, Liu Y, Grabowski P, Ahomaa K, Maier-Begandt D, Schwestka M, Pazhakh V, Isiaku AI, Briones Miranda B, Blombery P, Saito MK, Rusha E, Alizadeh Z, Pourpak Z, Kobayashi M, Rezaei N, Unal E, Hauck F, Drukker M, Walzog B, Rappsilber J, Zimmer R, Lieschke GJ, Klein C.

Human genetic defects in SRP19 and SRPRA cause severe congenital neutropenia with distinctive proteome changes Blood, 2023 Feb 9;141(6):645-658.

Maekawa H, Jin Y, Nishio M, Kawai S, Nagata S, Kamakura T, Yoshitomi H, Niwa A, Saito MK, Matsuda S, Toguchida J.

Recapitulation of pro-inflammatory signature of monocytes with ACVR1A mutation using FOP patient-derived iPSCs Orphanet J Rare Dis, 2022 Sep 21;17(1):364.

Matsuda T, Kambe N, Takimoto-Ito R, Ueki Y, Nakamizo S, Saito MK, Takei S, Kanazawa N.

Potential Benefits of TNF Targeting Therapy in Blau Syndrome, a NOD2-Associated Systemic Autoinflammatory Granulomatosis Front Immunol,

Tanaka T, Shiba T, Honda Y, Izawa K, Yasumi T, Saito MK, Nishikomori R.

Induced Pluripotent Stem Cell-Derived Monocytes/Macrophages in Autoinflammatory Diseases Front Immunol, 2022 May 6;13:870535.

Miyamoto T, Honda Y, Izawa K, Kanazawa N, Kadowaki S, Ohnishi H, Fujimoto M, Kambe N, Kase N, Shiba T, Nakagishi Y, Akizuki S, Murakami K, Bamba M, Nishida Y, Inui A, Fujisawa T, Nishida D, Iwata N, Otsubo Y, Ishimori S, Nishikori M, Tanizawa K, Nakamura T, Ueda T, Ohwada Y, Tsuyusaki Y, Shimizu M, Ebato T, Iwao K, Kubo A, Kawai T, Matsubayashi T, Miyazaki T, Kanayama T, Isa-Nishitani M, Nihira H, Abe J, Tanaka T, Hiejima E, Okada S, Ohara O, Saito MK, Takita J, Nishikomori R, Yasumi T

Assessment of type I interferon signatures in undifferentiated inflammatory diseases: A Japanese multicenter experience Front Immunol., 2022 Sep 23;13:905960.

Yamane J, Wada T, Otsuki H, Inomata K, Suzuki M, Hisaki T, Sekine S, Kouzuki H, Kobayashi K, Sone H, Yamashita JK, Osawa M, Saito MK, Fujibuchi W.

StemPanTox: A fast and wide-target drug assessment system for tailor-made safety evaluations using personalized iPS cells iScience, 2022 Jun 6;25(7):104538.

Song D, Takahashi G, Zheng YW, Matsuo-Takasaki M, Li J, Takami M, An Y, Hemmi Y, Miharada N, Fujioka T, Noguchi M, Nakajima T, Saito MK, Nakamura Y, Oda T, Miyaoka Y, Hayashi Y.

Retinoids rescue ceruloplasmin secretion and alleviate oxidative stress in Wilson's disease-specific hepatocytes Hum Mol Genet, 2022 Oct 28;31(21):3652-3671.

Masahiko Nishitani-Isa, Kojiro Mukai, Yoshitaka Honda, Hiroshi Nihira, Takayuki Tanaka, Hirofumi Shibata, Kumi Kodama, Eitaro Hiejima, Kazushi Izawa, Yuri Kawasaki, Mitsujiro Osawa, Yu Katata, Sachiko Onodera, Tatsuya Watanabe, Takashi Uchida, Shigeo Kure, Junko Takita, Osamu Ohara, Megumu K Saito, Ryuta Nishikomori, Tomohiko Taguchi, Yoji Sasahara, Takahiro Yasumi

Trapping of CDC42 C-terminal variants in the Golgi drives pyrin inflammasome hyperactivation The Journal of experimental medicine, 2022 Jun 6;219(6):e20211889

Hiromitsu Toshikawa, Akihiro Ikenaka, Li Li, Yoko Nishinaka-Arai, Akira Niwa, Akira Ashida, Yasuhiro Kazuki, Tatsutoshi Nakahata, Hiroshi Tamai, David W. Russell, Megumu K. Saito

N-Acetylcysteine Prevents Amyloid-β Secretion in Neurons Derived from Human Pluripotent Stem Cells with Trisomy 21 Scientific Reports, 11:17377 doi:10.1038/s41598-021-96697-7 (2021)

Yohko Kitagawa, Yuri Kawasaki, Yuichi Yamasaki, Naotomo Kambe, Syuji Takei, and Megumu K. Saito

Anti-TNF treatment corrects IFNγ-dependent proinflammatory signatures in Blau syndrome patient-derived macrophages Journal of Allergy and Clinical Immunology, 2021 Jun 24;S0091-6749(21)00888-5.

Mu A, Hira A, Niwa A, Osawa M, Yoshida K, Mori M, Okamoto Y, Inoue K, Kondo K, Kanemaki MT, Matsuda T, Ito E, Kojima S, Nakahata T, Ogawa S, Tanaka K, Matsuo K, Saito MK, Takata M

Analysis of disease model iPSCs derived from patients with a novel Fanconi anemia-like IBMFS ADH5/ALDH2 deficiency Blood, 137(15):2021-2032 (2021)

Nishinaka-Arai Y, Niwa A, Matsuo S, Kazuki Y, Yakura Y, Hiroma T, Toki T, Sakuma T, Yamamoto T, Ito E, Oshimura M, Nakahata T, Saito MK

Down syndrome-related transient abnormal myelopoiesis is attributed to a specific erythro-megakaryocytic subpopulation with GATA1 mutation Haematologica, 106(2):635-640 (2021)

Lin CY, Yoshida M, Li LT, Saito MK

In vitro Neuromuscular Junction Induced from Human Induced Pluripotent Stem Cells J Vis Exp., 166 (2020)

Chuang-Yu Lin, Akira Niwa, Chun-Yin Hou, Chung-Min Tsai, Hsi Chang

Bidirectional myofiber transition through altering the photobiomodulation condition Journal of photochemistry and photobiology. B, Biology, 212:112041-112041

Kase N, Terashima M, Ohta A, Niwa A, Honda-Ozaki F, Kawasaki Y, Nakahata T, Kanazawa N, Saito MK

Pluripotent stem cell-based screening identifies CUDC-907 as an effective compound for restoring the in vitro phenotype of Nakajo-Nishimura syndrome Stem Cells Transl Med., 2021 Mar;10(3):455-464. doi: 10.1002/sctm.20-0198. Epub 2020 Oct 14.

Hamabata T, Umeda K, Kouzuki K, Tanaka T, Daifu T, Nodomi S, Saida S, Kato I, Baba S, Hiramatsu H, Osawa M, Niwa A, Saito MK, Kamikubo Y, Adachi S, Hashii Y, Shimada A, Watanabe H, Osafune K, Okita K, Nakahata T, Watanabe K, Takita J, Heike T

Pluripotent stem cell model of Shwachman-Diamond syndrome reveals apoptotic predisposition of hemoangiogenic progenitors Sci Rep., 10(1):14859 (2020)

Seki R, Ohta A, Niwa A, Sugimine Y, Naito H, Nakahata T, Saito MK

Induced pluripotent stem cell-derived monocytic cell lines from a NOMID patient serve as a screening platform for modulating NLRP3 inflammasome activity Plos ONE, 15(8):e0237030 (2020)

Matsuda T, Kambe N, Ueki Y, Kanazawa N, Izawa K, Honda Y, Kawakami A, Takei S, Tonomura K, Inoue M, Kobayashi H, Okafuji I, Sakurai Y, Kato N, Maruyama Y, Inoue Y, Otsubo Y, Makino T, Okada S, Kobayashi I, Yashiro M, Ito S, Fujii H, Kondo Y, Okamoto N, Ito S, Iwata N, Kaneko U, Doi M, Hosokawa J, Ohara O, Saito MK, Nishikomori R; PIDJ members in the JSIAD; PIDJ (Primary Immunodeficiency and Autoinflammatory Diseases Database Project) members in the JSIAD (Japanese Society for Immunodeficiency and Autoinflammatory Diseases).

Clinical characteristics and treatment of 50 cases of Blau syndrome in Japan confirmed by genetic analysis of the NOD2 mutation Ann Rheum Dis., 79(11):1492-1499 (2020)

Sugimura R, Ohta R, Mori C, Li A, Mano T, Sano E, Kosugi K, Nakahata T, Niwa A, Saito MK, Torisawa Y

Biomimetic Aorta-Gonad-Mesonephros-on-a-Chip to Study Human Developmental Hematopoiesis Biomedical Microdevices, 22(2):34 (2020)

Nishinaka-Arai Y, Niwa A, Matsuo S, Kazuki Y, Yakura Y, Hiroma T, Toki T, Sakuma T, Yamamoto T, Ito E, Oshimura M, Nakahata T, Saito MK

Down syndrome-related transient abnormal myelopoiesis is attributed to a specific erythro-megakaryocytic subpopulation with GATA1 mutation Haematologica, 106(2):635-640 (2020)

Grajcarek J, Monlong J, Nishinaka-Arai Y, Nakamura M, Nagai M, Matsuo S, Lougheed D, Sakurai H, Saito MK, Bourque G, Woltjen K

Genome-wide microhomologies enable precise template-free editing of biologically relevant deletion mutations Nature communications, 10(1):4856 (2019)

Kou YT, Liu HT, Hou CY, Lin CY, Tsai CM, Chang H

A transient protective effect of low-level laser irradiation against disuse-induced atrophy of rats Lasers in medical science, 2019 Dec;34(9):1829-1839. doi: 10.1007/s10103-019-02778-5. Epub 2019 Apr 4.

Lin CY, Yoshida M, Li LT, Ikenaka A, Oshima S, Nakagawa K, Sakurai H, Matsui E, Nakahata T, Saito MK

iPSC-derived functional human neuromuscular junctions model the pathophysiology of neuromuscular diseases JCI Insight., 4(18):e124299 (2019)

Shiba T, Tanaka T, Ida H, Watanabe M, Nakaseko H, Osawa M, Shibata H, Izawa K, Yasumi T, Kawasaki Y, Saito MK, Takita J, Heike T, Nishikomori R

Functional evaluation of the pathological significance of MEFV variants using induced pluripotent stem cell-derived macrophages J Allergy Clin Immunol., Nov;144(5):1438-1441.e12. doi: 10.1016/j.jaci.2019.07.039. Epub 2019 Sep 18.

Ohta R, Sugimura R, Niwa A, Saito M

Hemogenic endothelium differentiation from human pluripotent stem cells in feederand xeno-free defined conditio J Vis Exp., 2019 Jun 16;(148)

Ichishima J, Suzuki NM, Samata B, Awaya T, Takahashi J, Hagiwara M, Nakahata T, Saito MK

Verification and rectification of cell type-specific splicing of a Seckel syndrome-associated ATR mutation using iPS cell model J Hum Genet, 64(5):445-458 (2019)

Kunimoto K, Honda-Ozaki F, Saito MK, Furukawa F, Kanazawa N.

Beneficial effect of methotrexate on a child case of Nakajo-Nishimura syndrome J Dermatol., 46(19):e365-e367 (2019)

Otomo N, Takeda K, Kawai S, Kou I, Guo L, Osawa M, Alev C, Kawakami N, Miyake N, Matsumoto N, Yasuhiko Y, Kotani T, Suzuki T, Uno K, Sudo H, Inami S, Taneichi H, Shigematsu H, Watanabe K, Yonezawa I, Sugawara R, Taniguchi Y, Minami S, Kaneko K, Nakamura M, Matsumoto M, Toguchida J, Watanabe K, Ikegawa S.

Bi-allelic loss of function variants of TBX6 causes a spectrum of malformation of spine and rib including congenital scoliosis and spondylocostal dysostosis. J Med Genet., 56(9):622-628 (2019)

Matsubara H, Niwa A, Nakahata T, Saito MK

Induction of human pluripotent stem cell-derived natural killer cells for immunotherapy under chemically defined conditions Biochem Biophys Res Commun, 515(1):1-8 (2019)

Suga M, Kondo T, Imamura K, Shibukawa R, Okanishi Y, Sagara Y, Tsukita K, Enami T, Furujo M, Saijo K, Nakamura Y, Osawa M, Saito MK, Yamanaka S, Inoue H

Generation of a human induced pluripotent stem cell line, BRCi001-A, derived from a patient with mucopolysaccharidosis type I Stem Cell Research, 36:101406 (2019)

Boisson B, Honda Y, Ajiro M, Bustamante J, Bendavid M, Gennery AR, Kawasaki Y, Ichishima J, Osawa M, Nihira H, Shiba T, Tanaka T, Chrabieh M, Bigio B, Hur H, Itan Y, Liang Y, Okada S, Izawa K, Nishikomori R, Ohara O, Heike T, Abel L, Puel A, Saito MK, Casanova JL, Hagiwara M, Yasumi T

Rescue of recurrent deep intronic mutation underlying cell type-dependent quantitative NEMO deficiency J Clin Invest., 2019 Feb 1;129(2):583-597. doi: 10.1172/JCI124011. Epub 2018 Dec 18.

Taoka K, Arai S, Kataoka K, Hosoi M, Miyauchi M, Yamazaki S, Honda A, Aixinjueluo W, Kobayashi T, Kumano K, Yoshimi A, Otsu M, Niwa A, Nakahata T, Nakauchi H, Kurokawa M

Using patient-derived iPSCs to develop humanized mouse models for chronic myelomonocytic leukemia and therapeutic drug identification, including liposomal clodronate Scientific reports, 8(1):15855 (2018)

Ono H, Takada H, Niwa A, Nakahata T, Ohga S, Saito MK

Lysosomal membrane permeabilization causes secretion of IL-1β in human vascular smooth muscle cells Inflammation Research. (2018) 67: 879. doi: 10.1007/s00011-018-1178-z

Kirino K, Nakahata T, Taguchi T, Saito MK

Efficient derivation of sympathetic neurons from human pluripotent stem cells with a defined condition Scientific Reports. (2018) 8:12865 doi:10.1038/s41598-018-31256-1

Honda-Ozaki F, Terashima M, Niwa A, Saiki N, Kawasaki Y, Ito H, Hotta A, Nagahashi A, Igura K, Asaka I, Li HL, Yanagimachi M, Furukawa F, Kanazawa N, Nakahata T, Saito MK

Pluripotent Stem Cell Model of Nakajo-Nishimura Syndrome Untangles Proinflammatory Pathways Mediated by Oxidative Stress Stem Serll reports, 10(6):1835-1850 (2018)

Oshima K, Saiki N, Tanaka M, Imamura H, Niwa A, Tanimura A, Nagahashi A, Hirayama A, Okita K, Hotta A, Kitayama S, Osawa M, Kaneko S, Watanabe A, Asaka I, Fujibuchi W, Imai K, Yabe H, Kamachi Y, Hara J, Kojima S, Tomita M, Soga T, Noma T, Nonoyama S, Nakahata T, Saito MK

Human AK2 links intracellular bioenergetic redistribution to the fate of hematopoietic progenitors Biochem Biophys Res Commun, 497(2):719-725 (2018)

Hitomi H, Kasahara T, Katagiri N, Hoshina A, Mae SI, Kotaka M, Toyohara T, Rahman A, Nakano D, Niwa A, Saito MK, Nakahata T, Nishiyama A, Osafune K

Human pluripotent stem cell-derived erythropoietin-producing cells ameliorate renal anemia in mice Sci Transl Med., 9(409):9(409):9(409):eaaj2300 (2017)

Iki T, Tanaka M, Kitajiri SI, Kita T, Kawasaki Y, Mizukoshi A, Fujibuchi W, Nakagawa T, Nakahata T, Ito J, Omori K, Saito MK

Microarray analyses of otospheres derived from the cochlea in the inner ear identify putative transcription factors that regulate the characteristics of otospheres PLoS One, 12(6):e0179901 (2017)

Hsu K, Lee TY, Periasamy A, Kao FJ, Li LT, Lin CY, Lin HJ, Lin M

Adaptable interaction between aquaporin-1 and band 3 reveals a potential role of water channel in blood CO2 transport FASEB journal, 31(10):4256-4264 (2017)

Takada S, Kambe N, Kawasaki Y, Niwa A, Honda-Ozaki F, Kobayashi K, Osawa M, Nagahashi A, Semi K, Hotta A, Asaka I, Yamada Y, Nishikomori R, Heike T, Matsue H, Nakahata T, Saito MK

Pluripotent stem cell models of Blau syndrome reveal an IFN-γ-dependent inflammatory response in macrophages. J Allergy Clin Immunol., 2018 Jan;141(1):339-349.e11. doi: 10.1016/j.jaci.2017.04.013. Epub 2017 Jun 3.

Liang YJ, Wang CY, Wang IA, Chen YW, Li LT, Lin CY, Ho MY, Chou TL, Wang YH, Chiou SP, Lin YJ, Yu J

Interaction of glycosphingolipids GD3 and GD2 with growth factor receptors maintains breast cancer stem cell phenotype Oncotarget, 8(29):47454-47473 (2017)

Kato I, Nishinaka Y, Nakamura M, Akarca AU, Niwa A, Ozawa H, Yoshida K, Mori M, Wang D, Morita M, Ueno H, Shiozawa Y, Shiraishi Y, Miyano M, Gupta R, Umeda K, Watanabe K, Koh K, Adachi S, Heike T, Saito MK, Sanada M, Ogawa S, Marafioti T, Watanabe A, Nakahata T, Enver T.

Hypoxic adaptation of leukemic cells infiltrating the CNS affords a therapeutic strategy targeting VEGF. Blood. 2017 Apr 19. pii: blood-2016-06-721712. doi: 10.1182/blood-2016-06-721712. [Epub ahead of print]

Kawasaki Y, Oda H, Ito J, Niwa A, Tanaka T, Hijikata A, Seki R, Nagahashi A, Osawa M, Asaka I, Watanabe A, Nishimata S, Shirai T, Kawashima H, Ohara O, Nakahata T, Nishikomori R, Heike T, Saito MK*.

Identification of a High-Frequency Somatic NLRC4 Mutation as a Cause of Autoinflammation by Pluripotent Cell-Based Phenotype Dissection. Arthritis Rheumatol. 2017 Feb;69(2):447-459. doi: 10.1002/art.39960.

Ohta R, Niwa A, Taniguchi Y, Suzuki N, Toga J, Yagi E, Saiki N, Nishinaka-Arai Y, Okada C, Watanabe A, Nakahata T, Sekiguchi K, Saito MK*.

Laminin-guided highly efficient endothelial commitment from human pluripotent stem cells. Scientific Reports. 2016 Nov 2;6:35680. doi: 10.1038/srep35680.

Sugimine Y, Niwa A, Matsubara H, Kobayashi K, Tabata Y, Heike T, Nakahata T, Saito MK*

A portable platform for stepwise hematopoiesis from human pluripotent stem cells within PET-reinforced collagen sponges. Int J Hematol. 2016 Dec;104(6):647-660. Epub 2016 Sep 6.

Yamashita S, Chiyonobu T, Yoshida M, Maeda H, Zuiki M, Kidowaki S, Isoda K, Morimoto M, Kato M, Saitsu H, Matsumoto N, Nakahata T, Saito MK, Hosoi H.

Mislocalization of syntaxin-1 and impaired neurite growth observed in a human iPSC model for STXBP1-related epileptic encephalopathy. Epilepsia. 2016 Apr;57(4):e81-6. doi: 10.1111/epi.13338. Epub 2016 Feb 25.

Maeda H, Chiyonobu T, Yoshida M, Yamashita S, Zuiki M, Kidowaki S, Isoda K, Yamakawa K, Morimoto M, Nakahata T, Saito MK, Hosoi H.

Establishment of isogenic iPSCs from an individual with SCN1A mutation mosaicism as a model for investigating neurocognitive impairment in Dravet syndrome. J Hum Genet. 2016 Jun;61(6):565-9. doi: 10.1038/jhg.2016.5. Epub 2016 Feb 4.

Kitajima K, Nakajima M, Kanokoda M, Kyba M, Dandapat A, Tolar J, Saito MK, Toyoda M, Umezawa A, Hara T.

GSK3β inhibition activates the CDX/HOX pathway and promotes hemogenic endothelial progenitor differentiation from human pluripotent stem cells. Exp Hematol. 2016 Jan;44(1):68-74.e1-10. doi: 10.1016/j.exphem.2015.09.007. Epub 2015 Oct 23.

Yoshida M, Kitaoka S, Egawa N, Yamane M, Ikeda R, Tsukita K, Amano N, Watanabe A, Morimoto M, Takahashi J, Hosoi H, Nakahata T, Inoue H, Saito MK*.

Modeling the early phenotype at the neuromuscular junction of spinal muscular atrophy using patient-derived iPSCs. Stem Cell Reports. 2015 Apr 14;4(4):561-8 doi: 10.1016/j.stemcr.2015.02.010.

Suzuki NM, Niwa A, Yabe M, Hira A, Okada C, Amano N, Watanabe A, Watanabe K, Heike T, Takata M, Nakahata T, Saito MK*.

Pluripotent cell models of Fanconi anemia identify the early pathological defect in human hemoangiogenic progenitors. Stem Cells Transl Med. 2015 Apr;4(4):333-8. doi: 10.5966/sctm.2013-0172. Epub 2015 Mar 11.

Fukuta M, Nakai Y, Kirino K, Nakagawa M, Sekiguchi K, Nagata S, Matsumoto Y, Yamamoto T, Umeda K, Heike T, Okumura N, Koizumi N, Sato T, Nakahata T, Saito M, Otsuka T, Kinoshita S, Ueno M, Ikeya M, Toguchida J.

Derivation of Mesenchymal Stromal Cells from Pluripotent Stem Cells through a Neural Crest Lineage using Small Molecule Compounds with Defined Media. PLoS One. 2014 Dec 2;9(12):e112291. doi: 10.1371/journal.pone.0112291. eCollection 2014.

Yokoyama K, Ikeya M, Umeda K, Oda H, Nodomi S, Nasu A, Matsumoto Y, Izawa K, Horigome K, Kusaka T, Tanaka T, Saito MK, Yasumi T, Nishikomori R, Ohara O, Nakayama N, Nakahata T, Heike T, Toguchida J.

Enhanced chondrogenesis of iPS cells from neonatal-onset multisystem inflammatory disease occurs via the caspase-1-independent cAMP/PKA/CREB pathway. Arthritis Rheumatol. 2015 Jan;67(1):302-14. doi: 10.1002/art.38912.

Nakagawa K, Gonzalez-Roca E, Souto A, Kawai T, Umebayashi H, Campistol JM, Cañellas J, Takei S, Kobayashi N, Callejas-Rubio JL, Ortego-Centeno N, Ruiz-Ortiz E, Rius F, Anton J, Iglesias E, Jimenez-Treviño S, Vargas C, Fernandez-Martin J, Calvo I, Hernández-Rodríguez J, Mendez M, Dordal MT, Basagaña M, Bujan S, Yashiro M, Kubota T, Koike R, Akuta N, Shimoyama K, Iwata N, Saito MK, Ohara O, Kambe N, Yasumi T, Izawa K, Kawai T, Heike T, Yagüe J, Nishikomori R, Aróstegui JI.

Somatic NLRP3 mosaicism in Muckle-Wells syndrome. A genetic mechanism shared by different phenotypes of cryopyrin-associated periodic syndromes. Ann Rheum Dis. 2013 Dec 10. [Epub ahead of print]

Morishima T, Watanabe KI, Niwa A, Hirai H, Saida S, Tanaka T, Kato I, Umeda K, Hiramatsu H, Saito MK, Matsubara K, Adachi S, Kobayashi M, Nakahata T, Heike T.

Genetic correction of HAX1 in induced pluripotent stem cells from a patient with severe congenital neutropenia improves defective granulopoiesis. Haematologica. 2014 Jan;99(1):19-27. doi: 10.3324/haematol.2013.083873. Epub 2013 Aug 23.

Yanagimachi MD, Niwa A, Tanaka T, Ozaki F, Nishimoto S, Murata Y, Yasumi T, Ito J, Tomida S, Oshima K, Asaka I, Goto H, Heike T, Nakahata T, Saito MK*.

Robust and highly-efficient differentiation of functional monocytic cells from human pluripotent stem cells under serum- and feeder cell- free conditions. PLoS One. 2013;8(4):e59243

Saito MK*, Niwa A.

Disease-associated iPS cell lines representing hematological and immunological disorders. Inflammation and regeneration. 2012 Sep;32(4): 171-7.

Tanaka T, Takahashi K, Yamane M, Tomida S, Nakamura S, Oshima K, Niwa A, Nishikomori R, Kambe N, Hara H, Mitsuyama M, Morone N, Heuser JE, Yamamoto T, Watanabe A, Sato-Otsubo A, Ogawa S, Asaka I, Heike T, Yamanaka S, Nakahata T, Saito MK*

Induced pluripotent stem cells from CINCA syndrome patients as a model for dissecting somatic mosaicism and drug discovery. Blood. 2012 Aug 9;120(6):1299-308. Epub 2012 Jun 21.

Kawai T, Nishikomori R, Izawa K, Murata Y, Tanaka N, Sakai H, Saito M, Yasumi T, Takaoka Y, Nakahata T, Mizukami T, Nunoi H, Kiyohara Y, Yoden A, Mutara T, Sasaki S, Ito E, Akutagawa H, Kawai T, Imai C, Okada S, Kobayashi M, Heike T.

Frequent somatic mosaicism of NEMO in T cells of patients with X-linked anhidrotic ectodermal dysplasia with immunodeficiency. Blood. 2012 Jun 7;119(23):5458-66. Epub 2012 Apr 19.

Kawai T, Saito M, Nishikomori R, Yasumi T, Izawa Km Murakami T, Okamoto S, Mori Y, Nakagawa N, Imai K, Nonoyama S, Wada T, Ohmori K, Nakahata T, Heike T.

Multiple reversions of an IL2RG mutation restore T cel function in an X -linked severe combined immunodeficiency patient. J Clin Immunol. 2012 Aug;32(4):690-7. Epub 2012 Mar 30.

Izawa K, Hijikata A, Tanaka N, Kawai T, Saito MK, Goldbach-Mansky R, Aksentijevich I, Yasumi T, Nakahata T, Heike T, Nishikomori R, Ohara O.

Detection of Base Substitution-Type Somatic Mosaicism of the NLRP3 Gene with >99.9% Statistical Confidence by Massively Parallel Sequencing. DNA Res. 2012 Apr;19(2):143-52. Epub 2012 Jan 24.

Kato I, Niwa A, Heike T, Fujino H, Saito MK, Umeda K, Hiramatsu H, Ito M, Morita M, Nishinaka Y, Adachi S, Ishikawa F, Nakahata T.

Identification of hepatic niche harboring human acute lymphoblastic leukemic cells via the SDF-1/CXCR4 axis. PLoS One. 2011;6(11):e27042. Epub 2011 Nov 1.

Niwa A, Heike T, Umeda K, Oshima K, Kato I, Sakai H, Suemori H, Nakahata T, Saito MK*.

A Novel Serum-Free Monolayer Culture for Orderly Hematopoietic Differentiation of Human Pluripotent Cells via Mesodermal Progenitors. PLoS One. 2011;6(7):e22261. Epub 2011 Jul 27.

Tanaka N, Izawa K, Saito MK, Sakuma M, Oshima K, Ohara O, Nishikomori R, Morimoto T, Kambe N, Goldbach-Mansky R, Aksentijevich I, de Saint Basile G, Neven B, van Gijn M, Frenkel J, Arostegui JI, Yague J, Merino R, Ibanez M, Pontillo A, Takada H, Imagawa T, Kawai T, Yasumi T, Nakahata T, Heike T.

High incidence of NLRP3 somatic mosaicism in chronic infantile neurological cutaneous and articular syndrome patients: The results of an international multicenter collaborative study. Arthritis Rheum. 2011 Jun 23. doi: 10.1002/art.30512. [Epub ahead of print]

Murata Y, Yasumi T, Shirakawa R, Izawa K, Sakai H, Abe J, Tanaka N, Kawai T, Oshima K, Saito M, Nishikomori R, Ohara O, Ishii E, Nakahata T, Horiuchi H, Heike T.

Rapid diagnosis of FHL3 by flow cytometric detection of intraplatelet Munc13-4 protein. Blood. 2011 Aug 4;118(5):1225-30. Epub 2011 Jun 8.

Kambe N, Satoh T, Tanizaki H, Fujisawa A, Saito MK, Nishikomori R.

Enhanced NF-κB activation with an inflammasome activator correlates with activity of autoinflammatory disease associated with NLRP3 mutations outside of exon 3: comment on the article by Jéru et al. Arthritis Rheum. 2010 Oct;62(10):3123-4;

Kambe N, Nakamura Y, Saito M, Nishikomori R

The inflammasome, an innate immunity guardian, participates in skin urticarial reactions and contact hypersensitivity. Allergol Int. 2010 Jun;59(2):105-13. Epub 2010 Feb 25.

Kawabata H, Murakami M, Nishikomori R, Saito M, Takaoka Y, Nanao K, Maezawa M.

A Japanese case of familial Mediterranean fever with a MEFV gene mutation. Hokkaido Igaku Zasshi. 2009 Nov;84(6):419-22

Sakai H, Ito S, Nishikomori R, Takaoka Y, Kawai T, Saito M, Okafuji I, Yasumi T, Heike T, Nakahata T.

A case of early-onset sarcoidosis with a six-base deletion in the NOD2 gene. Rheumatology (Oxford). 2010 Jan;49(1):194-6.

Niwa A, Umeda K, Chang H, Saito M, Okita K, Takahashi K, Nakagawa M, Yamanaka S, Nakahata T, Heike T.

Orderly hematopoietic development of induced pluripotent stem cells via Flk-1(+) hemoangiogenic progenitors. J Cell Physiol. 2009 Nov;221(2):367-77.

Nakamura Y, Kambe N, Saito M, Nishikomori R, Kim YG, Murakami M, Nunez G, Matsue H.

Mast cells mediate neutrophil recruitment and vascular leakage through the NLRP3 inflammasome in histamine-independent urticaria. J Exp Med. 2009 May11;206(5):1037-46. Epub 2009 Apr 13.

Okafuji I, Nishikomori R, Kanazawa N, Kambe N, Fujisawa A, Yamazaki S, Saito M, Yoshioka T, Kawai T, Sakai H, Tanizaki H, Heike T, Miyachi Y, Nakahata T.

Role of the NOD2 genotype in the clinical phenotype of Blau syndrome and early-onset sarcoidosis. Arthritis Rheum. 2009 Jan;60(1):242-50.

Saito M, Nishikomori R, Kambe N, Fujisawa A, Tanizaki H, Takeichi K, Imagawa T, Iehara T, Takada H, Matsubayashi T, Tanaka H, Kawashima H, Kawakami K, Kagami  S, Okafuji I, Yoshioka T, Adachi S, Heike T, Miyachi Y, Nakahata T.

Disease-associated CIAS1 mutations induce monocyte death, revealing low-level mosaicism in mutation-negative cryopyrin-associated periodic syndrome patients. Blood. 2008 Feb 15;111(4):2132-41.

Kanegane H, Itazawa T, Saito M, Nishikomori R, Makino T, Shimizu T, Adachi Y, Nakahata T, Miyawaki T.

A CIAS1 mutation in a Japanese girl with familial cold autoinflammatory syndrome. Eur J Pediatr. 2008 Feb;167(2):245-7. Epub 2007 Mar 2.

Fujisawa A, Kambe N, Saito M, Nishikomori R, Tanizaki H, Kanazawa N, Adachi S, Heike T, Sagara J, Suda T, Nakahata T, Miyachi Y.

Disease-associated mutations in CIAS1 induce cathepsin B-dependent rapid cell death of human THP-1 monocytic cells. Blood. 2007 Apr 1;109(7):2903-11.

Saito M, Fujisawa A, Nishikomori R, Kambe N, Nakata-Hizume M, Yoshimoto M,Ohmori K, Okafuji I, Yoshioka T, Kusunoki T, Miyachi Y, Heike T, Nakahata T.

Somatic mosaicism of CIAS1 in a patient with chronic infantile neurologic,cutaneous, articular syndrome. Arthritis Rheum. 2005 Nov;52(11):3579-85.

Okumura N, Terasawa F, Hirota-Kawadobora M, Yamauchi K, Nakanishi K, Shiga S,Ichiyama S, Saito M, Kawai M, Nakahata T.

A novel variant fibrinogen, deletion of Bbeta111Ser in coiled-coil region, affecting fibrin lateral aggregation. Clin Chim Acta. 2006 Mar;365(1-2):160-7. Epub 2005 Oct 17.

Saito M, Obi M, Kimura M.

Infantile hepatic dysfunction improved by elimination of cows' milk formulas. Pediatr Allergy Immunol. 2005 Aug;16(5):445-8.

Kusunoki T, Okafuji I, Yoshioka T, Saito M, Nishikomori R, Heike T, Sugai M, Shimizu A, Nakahata T.

SPINK5 polymorphism is associated with disease severity and food allergy in children with atopic dermatitis. J Allergy Clin Immunol. 2005 Mar;115(3):636-8.

Kimura M, Obi M, Saito M.

Japanese cedar-pollen-specific IL-5 production in infants with atopic dermatitis. Int Arch Allergy Immunol. 2004 Dec;135(4):343-7.
書籍

Saito MK*, Niwa A. Hematological disorders. In: Fukuda K (ed)

Human iPS cells in disease modeling. New York : Springer; 2016. P.69-81

Saito MK*., Matsunaga A, Takasu N, Yamanaka S. Donor recruitment and eligibility criteria for HLA-honmozygous iPS cell bank in Japan. In: Ilic D (ed)

Stem cell banking. Stem Cell Biology and Regenerative Medicine New York : Springer; 2014. p.67-76
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