Elucidate the pathophysiology of a novel syndrome caused by genes involving ATM signal pathway

阐明由涉及 ATM 信号通路的基因引起的新型综合征的病理生理学

• 批准号: 21K15907
• 负责人: UCHIYAMA Yuri
• 金额: $ 3万
• 依托单位: Yokohama City University
• 依托单位国家: 日本
• 项目类别: Grant-in-Aid for Early-Career Scientists
• 财政年份: 2021
• 资助国家: 日本
• 起止时间: 2021-04-01 至 2023-03-31
• 项目状态: 已结题
• 来源: https://kaken.nii.ac.jp/en/grant/KAKENHI-PROJECT-21K15907/
• 关键词: ATM signaling pathway; 成長障害; 発達障害; 造血障害; NGS解析; ATMパスウェイ; 汎血球減少症; 全エクソーム解析; ゲノム不安定性; 成長発達障害; 小脳失調; 小脳失調症

项目成果

Three KINSSHIP syndrome patients with mosaic and germline AFF3 variants

三名具有嵌合体和种系 AFF3 变异的 KINSSHIP 综合征患者

• DOI: 10.1111/cge.14292
• 发表时间: 2023
• 期刊: Clinical Genetics
• 影响因子: 3.5
• 作者: Inoue Yuta;Tsuchida Naomi;Okamoto Nobuhiko;Shuichi Shimakawa;Ohashi Kei;Saitoh Shinji;Ogawa Atsushi;Hamada Keisuke;Sakamoto Masamune;Miyake Noriko;Hamanaka Kohei;Fujita Atsushi;Koshimizu Eriko;Miyatake Satoko;Mizuguchi Takeshi;Ogata Kazuhiro;Uchiyama Yuri
• 通讯作者: Uchiyama Yuri

Acute heart failure due to left common iliac arteriovenous fistula: A case of VEXAS syndrome

左髂总动静脉瘘致急性心力衰竭：VEXAS综合征一例

• DOI: 10.1093/mrcr/rxac082
• 发表时间: 2022
• 期刊: Modern Rheumatology Case Reports
• 影响因子: 0.8
• 作者: Yamaguchi Hiroki;Kobayashi Daisuke;Nakamura Gen;Aida Ryo;Horii Yosuke;Okamoto Takeshi;Murakami Shuichi;Kondo Daisuke;Tsuchida Naomi;Uchiyama Yuri;Maeda Ayaka;Kirino Yohei;Matsumoto Naomichi;Kurosawa Yoichi;Hasegawa Eriko;Wakamatsu Ayako;Narita Ichiei
• 通讯作者: Narita Ichiei

VEXAS syndrome

韦克萨斯综合征

• DOI: 10.1007/s12185-022-03448-z
• 发表时间: 2022
• 期刊: International Journal of Hematology
• 影响因子: 2.1
• 作者: Uchino Kaori;Kanasugi Jo;Enomoto Megumi;Kitamura Fumiya;Tsuchida Naomi;Uchiyama Yuri;Maeda Ayaka;Kirino Yohei;Matsumoto Naomichi;Takami Akiyoshi
• 通讯作者: Takami Akiyoshi

Pathogenic variants in SLF2 and SMC5 cause segmented chromosomes and mosaic variegated hyperploidy.

• DOI: 10.1038/s41467-022-34349-8
• 发表时间: 2022-11-04
• 期刊: NATURE COMMUNICATIONS
• 影响因子: 16.6
• 作者: Grange, Laura J.;Reynolds, John J.;Ullah, Farid;Isidor, Bertrand;Shearer, Robert F.;Latypova, Xenia;Baxley, Ryan M.;Oliver, Antony W.;Ganesh, Anil;Cooke, Sophie L.;Jhujh, Satpal S.;McNee, Gavin S.;Hollingworth, Robert;Higgs, Martin R.;Natsume, Toyoaki;Khan, Tahir;Martos-Moreno, Gabriel A.;Chupp, Sharon;Mathew, Christopher G.;Parry, David;Simpson, Michael A.;Nahavandi, Nahid;Yuksel, Zafer;Drasdo, Mojgan;Kron, Anja;Vogt, Petra;Jonasson, Annemarie;Seth, Saad Ahmed;Gonzaga-Jauregui, Claudia;Brigatti, Karlla W.;Stegmann, Alexander P. A.;Kanemaki, Masato;Josifova, Dragana;Uchiyama, Yuri;Oh, Yukiko;Morimoto, Akira;Osaka, Hitoshi;Ammous, Zineb;Argente, Jesus;Matsumoto, Naomichi;Stumpel, Constance T. R. M.;Taylor, Alexander M. R.;Jackson, Andrew P.;Bielinsky, Anja-Katrin;Mailand, Niels;Le Caignec, Cedric;Davis, Erica E.;Stewart, Grant S.
• 通讯作者: Stewart, Grant S.

Distal arthrogryposis in a girl arising from a novel TNNI2 variant inherited from paternal somatic mosaicism

女孩的远端关节弯曲是由父系体细胞嵌合体遗传的新型 TNNI2 变异引起的

• DOI: 10.1038/s10038-022-01117-x
• 发表时间: 2023
• 期刊: J Hum Genet
• 影响因子: 3.5
• 作者: R. Seyama;Y. Uchiyama;Y. Kaneshi;K. Hamanaka;A. Fujita;N. Tsuchida;E. Koshimizu;K. Misawa;S. Miyatake;T. Mizuguchi;S. Makino;A. Itakura;N. Okamoto and N. Matsumoto
• 通讯作者: N. Okamoto and N. Matsumoto