香川礼子 (Reiko Kagawa) - マイポータル

基本情報

研究者番号: 40806634
J-GLOBAL ID: 202101001893311700
researchmap会員ID: R000032040

論文

Correction to: Exclusive Characteristics of the p.E555K Dominant-Negative Variant in Autosomal Dominant E47 Deficiency.

Takanori Utsumi, Miyuki Tsumura, Masato Yashiro, Zenichiro Kato, Kosuke Noma, Fumiaki Sakura, Reiko Kagawa, Yoko Mizoguchi, Shuhei Karakawa, Hidenori Ohnishi …

Journal of clinical immunology 44(8) 178-178 2024年8月15日
Exclusive Characteristics of the p.E555K Dominant-Negative Variant in Autosomal Dominant E47 Deficiency.

Takanori Utsumi, Miyuki Tsumura, Masato Yashiro, Zenichiro Kato, Kosuke Noma, Fumiaki Sakura, Reiko Kagawa, Yoko Mizoguchi, Shuhei Karakawa, Hidenori Ohnishi …

Journal of clinical immunology 44(7) 167-167 2024年7月29日
Using the C14:1/Medium-Chain Acylcarnitine Ratio Instead of C14:1 to Reduce False-Positive Results for Very-Long-Chain Acyl-CoA Dehydrogenase Deficiency in Newborn Screening in Japan

Go Tajima, Junko Aisaki, Keiichi Hara, Miyuki Tsumura, Reiko Kagawa, Fumiaki Sakura, Hideo Sasai, Miori Yuasa, Yosuke Shigematsu, Satoshi Okada

International Journal of Neonatal Screening 2024年2月20日
Newborn Screening with (C16 + C18:1)/C2 and C14/C3 for Carnitine Palmitoyltransferase II Deficiency throughout Japan Has Revealed C12/C0 as an Index of Higher Sensitivity and Specificity

Go Tajima, Keiichi Hara, Miyuki Tsumura, Reiko Kagawa, Fumiaki Sakura, Hideo Sasai, Miori Yuasa, Yosuke Shigematsu, Satoshi Okada

International Journal of Neonatal Screening 2023年10月27日
Inborn errors of immunity with loss- and gain-of-function germline mutations in STAT1

Takaki Asano, Takanori Utsumi, Reiko Kagawa, Shuhei Karakawa, Satoshi Okada

Clinical and Experimental Immunology 212(2) 96-106 2023年4月25日
Severity estimation of very-long-chain acyl-CoA dehydrogenase deficiency via 13C-fatty acid loading test.

Keiichi Sugihara, Miori Yuasa, Yuko Isozaki, Ikue Hata, Yusei Ohshima, Takashi Hamazaki, Toshihiko Kakiuchi, Masato Arao, Noboru Igarashi, Yumiko Kotani …

Pediatric research 2022年2月8日
Enhanced osteoclastogenesis in patients with MSMD due to impaired response to IFN-γ.

Miyuki Tsumura, Mizuka Miki, Yoko Mizoguchi, Osamu Hirata, Shiho Nishimura, Moe Tamaura, Reiko Kagawa, Seiichi Hayakawa, Masao Kobayashi, Satoshi Okada

The Journal of allergy and clinical immunology 149(1) 252-261 2022年1月
Pilot Study on Neonatal Screening for Methylmalonic Acidemia Caused by Defects in the Adenosylcobalamin Synthesis Pathway and Homocystinuria Caused by Defects in Homocysteine Remethylation.

Reiko Kagawa, Go Tajima, Takako Maeda, Fumiaki Sakura, Akari Nakamura-Utsunomiya, Keiichi Hara, Yutaka Nishimura, Miori Yuasa, Yosuke Shigematsu, Hiromi Tanaka …

International journal of neonatal screening 7(3) 2021年7月7日
Inherited CARD9 Deficiency in a Child with Invasive Disease Due to Exophiala dermatitidis and Two Older but Asymptomatic Siblings.

Yusuke Imanaka, Maki Taniguchi, Takehiko Doi, Miyuki Tsumura, Rie Nagaoka, Maiko Shimomura, Takaki Asano, Reiko Kagawa, Yoko Mizoguchi, Shuhei Karakawa …

Journal of clinical immunology 41(5) 975-986 2021年7月
Current Perspectives on Neonatal Screening for Propionic Acidemia in Japan: An Unexpectedly High Incidence of Patients with Mild Disease Caused by a Common PCCB Variant.

Go Tajima, Reiko Kagawa, Fumiaki Sakura, Akari Nakamura-Utsunomiya, Keiichi Hara, Miori Yuasa, Yuki Hasegawa, Hideo Sasai, Satoshi Okada

International journal of neonatal screening 7(3) 2021年6月28日
A classic variant of Fabry disease in a family with the M296I late-onset variant.

Shuma Hirashio, Reiko Kagawa, Go Tajima, Takao Masaki

CEN case reports 10(1) 106-110 2021年2月
Autosomal recessive complete STAT1 deficiency caused by compound heterozygous intronic mutations.

Sonoko Sakata, Miyuki Tsumura, Tadashi Matsubayashi, Shuhei Karakawa, Shunsuke Kimura, Moe Tamaura, Tsubasa Okano, Takuya Naruto, Yoko Mizoguchi, Reiko Kagawa …

International immunology 32(10) 663-671 2020年9月30日
ADHD・ASDの治療中に耐糖能異常・脂肪肝を認めた4例

香川礼子, 坂田園子, 宇都宮朱里, 梶梅あい子, 岡田賢

日本内分泌学会雑誌 96(1) 314-314 2020年8月
意識障害を主訴に受診した1歳の糖尿病性ケトアシドーシスの1例

山岡尚平, 香川礼子, 坂田園子, 宇都宮朱里, 岡田賢, 梶間理人, 藤江篤志

日本小児科学会雑誌 124(8) 1319-1319 2020年8月
A Case Report of a Japanese Boy with Morquio A Syndrome: Effects of Enzyme Replacement Therapy Initiated at the Age of 24 Months.

Akari Nakamura-Utsunomiya, Toshio Nakamae, Reiko Kagawa, Shuhei Karakawa, Sonoko Sakata, Fumiaki Sakura, Chihiro Tani, Yoshiko Matsubara, Takashi Ishino, Go Tajima …

International journal of molecular sciences 21(3) 2020年2月2日
Newborn screening for carnitine palmitoyltransferase II deficiency using (C16+C18:1)/C2: Evaluation of additional indices for adequate sensitivity and lower false-positivity.

Go Tajima, Keiichi Hara, Miyuki Tsumura, Reiko Kagawa, Satoshi Okada, Nobuo Sakura, Shinsuke Maruyama, Atsuko Noguchi, Tomonari Awaya, Mika Ishige …

Molecular genetics and metabolism 122(3) 67-75 2017年11月
A case of classical maple syrup urine disease that was successfully managed by living donor liver transplantation.

Chika Takano, Mika Ishige, Erika Ogawa, Hiromi Usui, Reiko Kagawa, Go Tajima, Ryoji Fujiki, Toshiyuki Fukao, Koichi Mizuta, Tatsuo Fuchigami …

Pediatric transplantation 21(5) 2017年8月
Alanine-scanning mutagenesis of human signal transducer and activator of transcription 1 to estimate loss- or gain-of-function variants.

Reiko Kagawa, Ryoji Fujiki, Miyuki Tsumura, Sonoko Sakata, Shiho Nishimura, Yuval Itan, Xiao-Fei Kong, Zenichiro Kato, Hidenori Ohnishi, Osamu Hirata …

The Journal of allergy and clinical immunology 140(1) 232-241 2017年7月
Adipsic hypernatremia without hypothalamic lesions accompanied by autoantibodies to subfornical organ

Takeshi Y. Hiyama, Akari N. Utsunomiya, Masahito Matsumoto, Akihiro Fujikawa, Chia-Hao Lin, Keiichi Hara, Reiko Kagawa, Satoshi Okada, Masao Kobayashi, Mayumi Ishikawa …

BRAIN PATHOLOGY 27(3) 323-331 2017年5月査読有り
Individual Clinically Diagnosed with CHARGE Syndrome but with a Mutation in KMT2D, a Gene Associated with Kabuki Syndrome: A Case Report.

Sonoko Sakata, Satoshi Okada, Kohei Aoyama, Keiichi Hara, Chihiro Tani, Reiko Kagawa, Akari Utsunomiya-Nakamura, Shinichiro Miyagawa, Tsutomu Ogata, Haruo Mizuno …

Frontiers in genetics 8 210-210 2017年

もっとみる

MISC

成人身長に到達した21水酸化酵素欠損症患者における遺伝子型と臨床経過の検討

宇都宮朱里, 香川礼子, 坂田園子, 宮河真一郎, 岡田賢, 神野和彦, 原圭一

日本マス・スクリーニング学会誌 29(2) 230-230 2019年10月
網羅的アラニンスキャニングを用いたSTAT1変異データベースの確立

香川礼子, 岡田賢, 藤木亮次, 津村弥来, 坂田園子, 西村志帆, 加藤善一郎, 大西秀典, 小原收, 小林正夫

日本小児科学会雑誌 121(2) 497-497 2017年2月
MSMD Patients with IFN-g-STAT1 Signaling Defect Present Enhanced Osteoclastogenesis and Bone Resorption

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

BLOOD 126(23) 2015年12月

共同研究・競争的資金等の研究課題

CARD9遺伝子変異の機能解析法の確立

日本学術振興会科学研究費助成事業若手研究 2021年4月 - 2023年3月

香川礼子
STAT1機能獲得型変異が自己免疫性の内分泌障害を引き起こす分子病態の解明

日本学術振興会科学研究費助成事業若手研究 2019年4月 - 2022年3月

香川礼子