Elucidation of the genetic causes of focal cortical dysplasia by detection of somatic variants and copy number variants

通过检测体细胞变异和拷贝数变异来阐明局灶性皮质发育不良的遗传原因

• 批准号: 20K17936
• 负责人: FUJITA Atsushi
• 金额: $ 2.75万
• 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: 2020
• 资助国家: 日本
• 起止时间: 2020-04-01 至 2023-03-31
• 项目状态: 已结题
• 来源: https://kaken.nii.ac.jp/en/grant/KAKENHI-PROJECT-20K17936/
• 关键词: 難治性てんかん; 体細胞変異; 次世代シークエンス; mTOR; 単一遺伝子疾患

项目成果

A novel homozygous CHMP1A variant arising from segmental uniparental disomy causes pontocerebellar hypoplasia type 8

节段性单亲二体性产生的新型纯合 CHMP1A 变异导致 8 型脑桥小脑发育不全

• DOI: 10.1038/s10038-022-01098-x
• 发表时间: 2023
• 期刊: J Hum Genet
• 影响因子: 3.5
• 作者: M. Sakamoto;T. Shiiki;S. Matsui;N. Okamoto;E. Koshimizu;N. Tsuchida;Y. Uchiyama;K. Hamanaka;A. Fujita;S. Miyatake;K. Misawa;T. Mizuguchi and N. Matsumoto
• 通讯作者: T. Mizuguchi and N. Matsumoto

Detecting the NOTCH2NLC Repeat Expansion in Neuronal Intranuclear Inclusion Disease

检测神经元核内包涵体病中的 NOTCH2NLC 重复扩增

• DOI: 10.1007/978-1-0716-2357-2_7
• 发表时间: 2022
• 期刊: Genomic Structural Variants in Nervous System Disorders (Part of the Neuromethods book series)
• 作者: S. Mitsuhashi;A. Fujita;N. Matsumoto
• 通讯作者: N. Matsumoto

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

Large-scale discovery of novel neurodevelopmental disorder-related genes through a unified analysis of single-nucleotide and copy number variants.

• DOI: 10.1186/s13073-022-01042-w
• 发表时间: 2022-04-26
• 期刊: Genome medicine
• 影响因子: 12.3

Monogenic causes of pigmentary mosaicism

• DOI: 10.1007/s00439-022-02437-w
• 发表时间: 2022-05
• 期刊: Human Genetics
• 影响因子: 5.3
• 作者: K. Saida;P. Chong;A. Yamaguchi;Naka Saito;Hajime Ikehara;E. Koshimizu;R. Miyata;A. Ishiko;Kazuyuki Nakamura;H. Ohnishi;K. Fujioka;T. Sakakibara;H. Asada;K. Ogawa;K. Kudo;Eri Ohashi;M. Kawai;Yuichi Abe;N. Tsuchida;Yuri Uchiyama;K. Hamanaka;A. Fujita;T. Mizuguchi;S. Miyatake;N. Miyake;Mitsuhiro Kato;R. Kira;N. Matsumoto