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2019年
【1月】
Ishihara J‚ Mizuochi T‚ Uchida T‚ Takaki Y‚ Konishi KI‚ Joo M‚ Takahashi Y‚ Yoshioka S‚ Kusano H‚ Sasahara Y‚ Yamashita Y.
Infantile-onset inflammatory bowel disease in a patient with Hermansky-Pudlak syndrome: a case report.
BMC Gastroenterol. 19:9‚ 2019
Umeki I‚ Niihori T‚ Abe T‚ Kanno SI‚ Okamoto N‚ Mizuno S‚ Kurosawa K‚ Nagasaki K‚ Yoshida M‚ Ohashi H‚ Inoue SI‚ Matsubara Y‚ Fujiwara I‚ Kure S‚ Aoki Y.
Delineation of LZTR1 mutation-positive patients with Noonan syndrome and identification of LZTR1 binding to RAF1-PPP1CB complexes.
Hum Genet. 138:21-35‚ 2019
Takezawa Y‚ Fujie H‚ Kikuchi A‚ Kure S.
Reply to: Avoid valproate in patients with IARS2 mutations.
Brain Dev. 41:122‚ 2019
【2月】
Yasuda J‚ Kinoshita K‚ Katsuoka F‚ Danjoh I‚ Sakurai-Yageta M‚ Motoike IN‚ Kuroki Y‚ Saito S‚ Kojima K‚ Shirota M‚ Saigusa D‚ Otsuki A‚ Kawashima J‚ Yamaguchi-Kabata Y‚ Tadaka S‚ Aoki Y‚ Mimori T‚ Kumada K‚ Inoue J‚ Makino S‚ Kuriki M‚ Fuse N‚ Koshiba S‚ Tanabe O‚ Nagasaki M‚ Tamiya G‚ Shimizu R‚ Takai-Igarashi T‚ Ogishima S‚ Hozawa A‚ Kuriyama S‚ Sugawara J‚ Tsuboi A‚ Kiyomoto H‚ Ishii T‚ Tomita H‚ Minegishi N‚ Suzuki Y‚ Suzuki K‚ Kawame H‚ Tanaka H‚ Taki Y‚ Yaegashi N‚ Kure S‚ Nagami F; Tohoku Medical Megabank Project Study Group‚ Kosaki K‚ Sutoh Y‚ Hachiya T‚ Shimizu A‚ Sasaki M‚ Yamamoto M.
Genome analyses for the Tohoku Medical Megabank Project towards establishment of personalized healthcare.
J Biochem. 165:139-158‚ 2019
Numata-Uematsu Y‚ Wakatsuki S‚ Nagano S‚ Shibata M‚ Sakai K‚ Ichinohe N‚ Mikoshiba K‚ Ohshima T‚ Yamashita N‚ Goshima Y‚ Araki T.
Inhibition of collapsin response mediator protein-2 phosphorylation ameliorates motor phenotype of ALS model mice expressing SOD1G93A.
Neurosci Res. 139:63-68‚ 2019
Kure S‚ Shintaku H.
Tetrahydrobipterin-responsive phenylalanine hydroxylase deficiency.
J Hum Genet. 64:67-71‚ 2019
Saito-Hakoda A‚ Kanno J‚ Suzuki D‚ Kawashima S‚ Kamimura M‚ Hirano K‚ Sakai K‚ Igarashi M‚ Fukami M‚ Fujiwara I.
A Follow-Up from Infancy to Puberty in a Japanese Male with SRY-Negative 46‚XX Testicular Disorder of Sex Development Carrying a p.Arg92Trp Mutation in NR5A1.
Sex Dev. 13:60-66‚ 2019
Imai Y‚ Kure S‚ Nara C‚ Takagi N‚ Tachi M.
Mental Development and Surgical Prognosis of Pai Syndrome: A Case Report and Review of the Literature.
Cleft Palate Craniofac J. 56:273-279‚ 2019
Sasaki K‚ Ito Y‚ Kawame H‚ Kikuchi A‚ Tanaka H.
Fatal case of Hajdu-Cheney syndrome with idiopathic pulmonary hemosiderosis.
Pediatr Int. 61:190-192‚ 2019
【4月】
Rokugo Y‚ Ota C‚ Kimura M‚ Sasahara Y.
Preoperative administration of propranolol reduced the surgical risks of PHACES syndrome in a 14-month-old girl.
BMJ Case Rep. 29:12‚ 2019
Kikuchi K‚ Saigusa D‚ Kanemitsu Y‚ Matsumoto Y‚ Thanai P‚ Suzuki N‚ Mise K‚ Yamaguchi H‚ Nakamura T‚ Asaji K‚ Mukawa C‚ Tsukamoto H‚ Sato T‚ Oikawa Y‚ Iwasaki T‚ Oe Y‚ T ukimi T‚ Fukuda NN‚ Ho HJ‚ Nanto-Hara F‚ Ogura J‚ Saito R‚ Nagao S‚ Ohsaki Y‚ Shimada S‚ Suzuki T‚ Toyohara T‚ Mishima E‚ Shima H‚ Akiyama Y‚ Akiyama Y‚ Ichijo M‚ Matsuhashi T‚ Matsuo A‚ Ogata Y‚ Yang CC‚ Suzuki C‚ Breeggemann MC‚ Heymann J‚ Shimizu M‚ Ogawa S‚ Takahashi N‚ Suzuki T‚ Owada Y‚ Kure S‚ Mano N‚ Soga T‚ Wada T‚ Kopp JB‚ Fukuda S‚ Hozawa A‚ Yamamoto M‚ Ito S‚ Wada J‚ Tomioka Y‚ Abe T.
Gut microbiome-derived phenyl sulfate contributes to albuminuria in diabetic kidney disease.
Nat Commun. 10:1835‚ 2019
Iwasawa S‚ Kikuchi A‚ Wada Y‚ Arai-Ichinoi N‚ Sakamoto O‚ Tamiya G‚ Kure S.
The prevalence of GALM mutations that cause galactosemia: A database of functionally evaluated variants.
Mol Genet Metab. 126:362-367‚ 2019
Fujita N‚ Kobayashi R‚ Atsuta Y‚ Iwasaki F‚ Suzumiya J‚ Sasahara Y‚ Inoue M‚ Koh K‚ Hori T‚ Goto H‚ Ichinohe T‚ Hashii Y‚ Kato K‚ Suzuki R‚ Mitsui T.
Hematopoietic stem cell transplantation in children and adolescents with relapsed or refractory B-cell non-Hodgkin lymphoma.
Int J Hematol. 109:483-490‚ 2019
Hashimoto J‚ Hamasaki Y‚ Takahashi Y‚ Kubota M‚ Yanagisawa T‚ Itabashi Y‚ Muramatsu M‚ Kawamura T‚ Kumagai N‚ Ohwada Y‚ Sakai K‚ Shishido S.
Management of patients with severe Epstein syndrome: A review of four patients who received living-donor renal transplantation.
Nephrology (Carlton). 24:450-455‚ 2019
Okamura K‚ Uchida T‚ Hayashi M‚ Yaguchi Y‚ Hemmi A‚ Murata I‚ Ichikawa K‚ Koyama S‚ Onoda T‚ Sasahara Y‚ Suzuki T.
Neutrophilic dermatosis associated with an NFKB2 mutation.
Clin Exp Dermatol. 44:350-352‚ 2019
Suzuki-Muromoto S‚ Miyabayashi T‚ Nagai K‚ Yamamura-Suzuki S‚ Anzai M‚ Takezawa Y‚ Sato R‚ Okubo Y‚ Endo W‚ Inui T‚ Togashi N‚ Kikuchi A‚ Niihori T‚ Aoki Y‚ Kure S‚ Haginoya K.
Leucine-485 deletion variant of BRAF may exhibit the severe end of the clinical spectrum of CFC syndrome.
J Hum Genet. 64:499-504‚ 2019
Usuda H‚ Watanabe S‚ Saito M‚ Sato S‚ Musk GC‚ Fee ME‚ Carter S‚ Kumagai Y‚ Takahashi T‚ Kawamura MS‚ Hanita T‚ Kure S‚ Yaegashi N‚ Newnham JP‚ Kemp MW.
Successful use of an artificial placenta to support extremely preterm ovine fetuses at the border of viability.
Am J Obstet Gynecol. 221:69.e1-69.e17‚ 2019
Kuniyoshi Y‚ Kikuya M‚ Matsubara H‚ Ishikuro M‚ Obara T‚ Kure S‚ Kuriyama S.
Association of Feeding Practice with Childhood Overweight and/or Obesity in Affected Areas Before and After the Great East Japan Earthquake.
Breastfeed Med. 14:382-389‚ 2019
Okano Y‚ Ohura T‚ Sakamoto O‚ Inui A.
Current treatment for citrin deficiency during NICCD and adaptation/compensation stages: Strategy to prevent CTLN2.
Mol Genet Metab. 127:175-183‚ 2019
【8月】
Umeda K‚ Yabe H‚ Kato K‚ Imai K‚ Kobayashi M‚ Takahashi Y‚ Yoshida N‚ Sato M‚ Sasahara Y‚ Kato K‚ Adachi S‚ Koga Y‚ Okada K‚ Inoue M‚ Hashii Y‚ Atsuta Y‚ Morio T; Inherited Disease Working Group of the Japan Society for Hematopoietic Cell Transplantation.
Impact of low-dose irradiation and in vivo T-cell depletion on hematopoietic stem cell transplantation for non-malignant diseases using fludarabine-based reduced-intensity conditioning.
Bone Marrow Transplant. 54:1227-1236‚ 2019
Kutukculer N‚ Puel A‚ Eren Akarcan S‚ Moriya K‚ Edeer Karaca N‚ Migaud M‚ Casanova JL‚ Aksu G.
Deficiency of Interleukin-1 Receptor Antagonist: A Case with Late Onset Severe Inflammatory Arthritis‚ Nail Psoriasis with Onychomycosis and Well Responsive to Adalimumab Therapy.
Case Reports Immunol. 2019 Aug 4;2019:1902817. eCollection 2019.
【9月】
Kuniyoshi Y‚ Obara T‚ Ishikuro M‚ Matsubara H‚ Nagai M‚ Murakami K‚ Noda A‚ Kikuya M‚ Kure S‚ Kuriyama S.
Effectiveness of Seasonal Inactivated Influenza Vaccination in Japanese Schoolchildren: An Epidemiologic Study at the Community Level.
Hum Vaccin Immunother. 16:295-300‚ 2020
【10月】
Hino-Fukuyo N‚ Haginoya K‚ Takahashi T‚ Nakashima I‚ Fujihara K‚ Takai Y‚ Akasaka M‚ Kure S.
Long-term outcome of a group of Japanese children with myelin-oligodendrocyte glycoprotein encephalomyelitis without preventive immunosuppressive therapy.
Brain Dev. 41:790-795‚ 2019
Ohuchi Y‚ Akiyama T‚ Matsuhashi M‚ Kobayashi K.
High-frequency oscillations in a spectrum of pediatric epilepsies characterized by sleep-activated spikes in scalp EEG
Clinical Neurophysiology. 130:1971-1980‚ 2019
【11月】
Miyauchi A‚ Kouga T‚ Jimbo EF‚ Matsuhashi T‚ Abe T‚ Yamagata T‚ Osaka H.
Apomorphine rescues reactive oxygen species-induced apoptosis of fibroblasts with mitochondrial disease.
Mitochondrion. 49:111-120‚ 2019
【12月】
Kuniyoshi Y‚ Kikuya M‚ Miyashita M‚ Yamanaka C‚ Ishikuro M‚ Obara T‚ Metoki H‚Nakaya N‚ Nagami F‚ Tomita H‚ Hozawa A‚ Tsuji I‚ Kure S‚ Yaegashi N‚ Kuriyama S.
Prefabricated Temporary Housing and Eczema or Respiratory Symptoms in Schoolchildren after the Great East Japan Earthquake: The ToMMo Child Health Study.
Disaster Med Public Health Prep. 13:905-911‚ 2019
Suzuki T‚ Ota C‚ Fujino N‚ Tando Y‚ Suzuki S‚ Yamada M‚ Kondo T‚ Okada Y‚ Kubo H.
Improving the viability of tissue-resident stem cells using an organ-preservation solution.
FEBS Open Bio. 9:2093-2104‚ 2019
Miyamura T‚ Kudo K‚ Tabuchi K‚ Ishida H‚ Tomizawa D‚ Adachi S‚ Goto H‚ Yoshida N‚ Inoue M‚ Koh K‚ Sasahara Y‚ Fujita N‚ Kakuda H‚ Noguchi M‚ Hiwatari M‚ Hashii Y‚ Kato K‚ Atsuta Y‚ Okamoto Y.
Hematopoietic stem cell transplantation for pediatric acute myeloid leukemia patients with KMT2A rearrangement; A nationwide retrospective analysis in Japan.
Leuk Res. 87:106263‚ 2019
松木琢磨、熊谷直憲、内田奈生、工藤宏紀、木越隆晶、二瓶真人、曽木千純、川嶋明香、鈴木大、上村美季、市野井那津子、菅野潤子、呉繁夫
治療介入時期の違いにより異なる発達経過を辿った腎性尿崩症の兄弟例
日本小児科学会雑誌 123:1138-1143‚ 2019
中野智太、新妻秀剛、片山紗乙莉、渡辺祐子、入江正寛、力石健、笹原洋二、呉繁夫
Wiskott-Aldrich症候群に合併した全身性自己免疫性炎症にRituximabが奏効した一例
日本小児血液・がん学会雑誌 56:221-224‚ 2019
片山紗乙莉、鈴木未来子、笹原洋二、呉繁夫、山本雅之
GATA2ハプロ不全はEVI1誘導性白血病の発症を促進する
日本小児血液・がん学会雑誌 56:159-162‚ 2019
小野山薫、菅野潤子、島彦仁、新妻創、鈴木大、上村美季、市野井那津子、内田奈生、菅原典子、呉繁夫
胸骨裂と臍上線条、頭頸部・胸部の血管腫、脳動脈・頸動脈の異常よりPHACES症候群と診断した1例
小児科臨床 72:1551-1556(2019.10)
内田奈生、熊谷直憲、根東義明
Muse細胞-現状と将来展望:腎不全におけるMuse細胞を用いた治療戦略
血液フロンティア 29:205-214‚ 2019
呉 繁夫
先天性葉酸吸収不全[指定難病253]
指定難病ペディア2019 日本医師会雑誌 148(特別1):286-287‚ 2019
呉 繁夫
非ケトーシス型高グリシン血症[指定難病321]
指定難病ペディア2019 日本医師会雑誌 148(特別1):289‚ 2019
呉繁夫
非ケトーシス型高グリシン血症
遺伝子医学 29:106-109‚ 2019
呉繁夫
外来診療で知っておくべき先天代謝異常症
小児科診療UP-toDATE ラジオNIKKEI放送内容集 35:9-12‚ 2019
笹原洋二
「今日の治療指針 2019年度版—私はこう治療している」医学書院
原発性免疫不全症 p1456-1458
和田陽一
「全身性疾患と腎update(腎と透析2019年86巻増刊号)」東京医学社
Fabry病 小児科専門医の視点より p171-174
植松有里佳:第61回日本小児神経学会学術集会
優秀ポスター賞
「先天性大脳白質形成不全症における末梢神経障害の病態解析」
工藤宏紀:第54回日本小児腎臓病学会学術集会
森田賞
「ネフローゼ症候群の発症に関わる6つの遺伝子を同定した研究」
和田陽一:令和元年度 日本先天代謝異常学会
奨励賞
「GALMの両アレル性変異はガラクトース血症IV型を呈する」
和田陽一:令和元年度 日本先天代謝異常学会
トラベルアワード(海外研究助成)
鈴木大:日本小児内分泌学会
2019年度未来開拓研究助成
「軟骨細胞の分化におけるヒストン修飾酵素によるIGF-1遺伝子のエピゲノム制御」
岩澤伸哉:日本人類遺伝学会第64回大会
大会最優秀ポスター賞
「JIP3をコードするMAPK8IP3のrecurrent de novo variantsは痙性麻痺・知的障害・脳梁低形成を引き起こす」