日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Adalimumab-responsive Monogenic Inflammatory Bowel Disease With Pseudopolyposis Characteristic of TGFBR2 Variant in Loeys-Dietz Syndrome

对阿达木单抗有反应的单基因炎症性肠病伴假性息肉病,是Loeys-Dietz综合征中TGFBR2变异的特征性表现

Sado, Tomomitsu; Ukai, Satoshi; Kurasawa, Shingo; Kono, Yosuke; Hasuda, Norio; Iwaya, Mai; Nakane, Takaya; Yamaguchi, Tomomi; Kosho, Tomoki; Nakayama, Yoshiko

Carbohydrate sulfotransferase 14 gene deletion induces dermatan sulfate deficiency and affects collagen structure and bowel contraction.

碳水化合物磺基转移酶 14 基因缺失会导致硫酸皮肤素缺乏,并影响胶原蛋白结构和肠道收缩

Ono Fumiko, Takahashi Yuki, Shimada Shin, Mizumoto Shuji, Miyata Shinji, Nitahara-Kasahara Yuko, Yamada Shuhei, Okada Takashi, Kosho Tomoki, Yoshizawa Takahiro

Novel germline likely pathogenic frameshift variant of the MEN1 gene contributes to multiple endocrine neoplasia type 1: a case report with review of literature

MEN1基因新型种系可能致病性移码变异导致多发性内分泌肿瘤1型:病例报告及文献综述

Yamazaki, Masanori; Kojima, Tomomi; Shibata, Yusuke; Kosho, Tomoki; Komatsu, Mitsuhisa

Surgical management of endometrial cancer in patient with musculocontractural Ehlers-Danlos Syndrome harboring pathogenic variants in CHST14 (mcEDS-CHST14): A case report

伴有CHST14致病性变异的肌肉挛缩型埃勒斯-当洛斯综合征(mcEDS-CHST14)患者子宫内膜癌的手术治疗:病例报告

Shioya, Yuta; Ando, Hirofumi; Miyamoto, Tsutomu; Ida, Koichi; Kobara, Hisanori; Yamaguchi, Tomomi; Kosho, Tomoki; Shiozawa, Tanri

Exome-wide benchmark of difficult-to-sequence regions using short-read next-generation DNA sequencing

利用短读长二代DNA测序技术对难以测序的区域进行全外显子组基准测试

Hijikata, Atsushi; Suyama, Mikita; Kikugawa, Shingo; Matoba, Ryo; Naruto, Takuya; Enomoto, Yumi; Kurosawa, Kenji; Harada, Naoki; Yanagi, Kumiko; Kaname, Tadashi; Miyako, Keisuke; Takazawa, Masaki; Sasai, Hideo; Hosokawa, Junichi; Itoga, Sakae; Yamaguchi, Tomomi; Kosho, Tomoki; Matsubara, Keiko; Kuroki, Yoko; Fukami, Maki; Adachi, Kaori; Nanba, Eiji; Tsuchida, Naomi; Uchiyama, Yuri; Matsumoto, Naomichi; Nishimura, Kunihiro; Ohara, Osamu

High-density lipoprotein functionality in cholesterol efflux in early childhood is related to the content ratio of triglyceride to cholesterol

幼儿时期高密度脂蛋白在胆固醇外流中的功能与甘油三酯与胆固醇的含量比有关

Futatsugi, Akiko; Tozuka, Minoru; Horiuchi, Yuna; Ohkawa, Ryunosuke; Kosho, Tomoki

Editorial: Ehlers-Danlos syndrome: from bedside to bench

社论:埃勒斯-当洛斯综合征:从临床到实验室

Kosho, Tomoki; Hayashi, Shujiro; Matsumoto, Ken-Ichi; Syx, Delfien; Kaur, Anupriya

A Novel Synonymous Variant in SQSTM1 Causes Neurodegeneration With Ataxia, Dystonia, and Gaze Palsy Revealed by Urine-Derived Cells-Based Functional Analysis

基于尿液衍生细胞的功能分析揭示,SQSTM1基因中一种新的同义变异会导致神经退行性变,并伴有共济失调、肌张力障碍和凝视麻痹。

Masuko, Shinji; Sato, Mitsuto; Nakamura, Katsuya; Hamanaka, Kohei; Miyatake, Satoko; Inaba, Yuji; Kosho, Tomoki; Matsumoto, Naomichi; Sekijima, Yoshiki

Severe Cerebral Small Vessel Disease Caused by the Uniallelic p.A252T Variant of HTRA1

由HTRA1基因单等位基因p.A252T变异引起的严重脑小血管病

Kondo, Yasufumi; Yoshinaga, Tsuneaki; Nakamura, Katsuya; Yamaguchi, Tomomi; Ishikawa, Masumi; Kosho, Tomoki; Sekijima, Yoshiki

Hereditary diffuse gastric cancer in a Japanese family with CDH1 mutation three case reports

日本家族中CDH1基因突变导致的遗传性弥漫性胃癌三例报告

Muranaka, Futoshi; Kise, Emiko; Tokumaru, Shigeo; Kitazawa, Masato; Miyagawa, Yusuke; Suga, Tomoaki; Uehara, Takeshi; Iwaya, Mai; Kobayashi, Shota; Sato, Midori; Gomi, Daisuke; Yamada, Hidetaka; Sugimura, Haruhiko; Kosho, Tomoki; Soejima, Yuji; Koizumi, Tomonobu