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

Inflammatory bowel disease in a young female patient with a novel de novo TRAF3 frameshift variant responsive to ustekinumab: a case report

一例年轻女性患者,携带新型从头TRAF3移码突变,对乌司奴单抗治疗有反应,并患有炎症性肠病:病例报告

Takeuchi, Ichiro; Taniguchi, Kosuke; Arai, Katsuhiro; Uchiyama, Toru; Terao, Miho; Hori, Asuka; Kawai, Toshinao; Yoshioka, Takako; Kyodo, Reiko; Shimizu, Hirotaka; Fujita, Satoshi; Motomura, Kenichiro; Okazaki, Yuka; Ishikawa, Takashi; Ogura, Masao; Hayashi, Kentaro; Matsumoto, Kenji; Takada, Shuji; Onodera, Masafumi; Morita, Hideaki; Hata, Kenichiro

Author Correction: GATA4 binding to the Sox9 enhancer mXYSRa/Enh13 is critical for testis differentiation in mouse

作者更正:GATA4 与 Sox9 增强子 mXYSRa/Enh13 的结合对于小鼠睾丸分化至关重要。

Ogawa, Yuya; Tsuchiya, Iku; Yanai, Shogo; Baba, Takashi; Morohashi, Ken-Ichirou; Sasaki, Takehiko; Sasaki, Junko; Terao, Miho; Tsuji-Hosokawa, Atsumi; Takada, Shuji

Identification of maternal allele sequences of IG-DMR that are essential for neonatal viability.

鉴定对新生儿存活至关重要的IG-DMR母系等位基因序列

Hara Satoshi, Muramatsu Akari, Terao Miho, Takada Shuji

Corrigendum to "Enhanced osteoblastic differentiation of parietal bone in a novel murine model of mucopolysaccharidosis type II" [Molecular Genetics and Metabolism Reports Vol. 37, December 2023, 101021]

对“新型粘多糖贮积症 II 型小鼠模型中顶骨成骨细胞分化增强”的更正[分子遗传学和代谢报告,第 37 卷,2023 年 12 月,101021]

Yamazaki, Narutoshi; Ohira, Mari; Takada, Shuji; Ohtake, Akira; Onodera, Masafumi; Nakanishi, Mahito; Okuyama, Torayuki; Mashima, Ryuichi

Establishment and visual analysis of CBA/J-Pde6b(Y347Y/Y347X) and C3H/HeJ-Pde6b(Y347Y/Y347X) mice

CBA/J-Pde6b(Y347Y/Y347X)和C3H/HeJ-Pde6b(Y347Y/Y347X)小鼠的建立和视觉分析

Shindo, Miyuki; Terao, Miho; Takada, Shuji; Ichinose, Minoru; Matsuzaka, Emiko; Yokoi, Tadashi; Azuma, Noriyuki; Mizuno, Seiya; Tsumura, Hideki

FRI307 Gigantism Due To Transcriptional Activation Of GHRH: The First Case Of Hormone-encoding Gene Overexpression Underlying A Congenital Disorder

FRI307 生长激素释放激素转录激活引起的巨人症:首例由激素编码基因过表达导致的先天性疾病

Agorastos, Agorastos; Karca, Ayla; Lai, William; Naidoo, Shiva; Saladi, Lakshmi N; Jameson, Brian C; Marques, Renata; Sharma, Sapna; Flores Chang, Bessy Suyin; Sajan, Alen; Maione, Luigi; Naule, Lydie; Li, Chloe; Magnuson, Melissa; Young, Jacques; Carroll, Rona Stephanie; Kaiser, Ursula B; Ahmad, Mobeen; Iqbal, Iqra; Khan, Malik; Estepa, Adrian; Siddiqui, Usman; Garcia, Lucia Iglesias; Mercogliano, María Florencia; Schuster, Claudio; Cheung, Leonard; Camper, Sally Ann; Marti, Marcelo; Perez-Millan, Maria Ines; Cristancho, Cagney; Szabo, Gabriela; Ruggiero-Ruff, Rebecca Elizabeth; Villa, Pedro; Hijleh, Sarah Abu; Avalos, Bryant; DiPatrizio, Nicholas; Coss, Djurdjica; Munasinghe, Uthpala; Pittampalli, Shanti; Das, Dhriti; Pattan, Vishwanath; Pansare, Rahul; Khurram, Daniyeh; Folsom, Lisal; Godar, Cassandra M; Noble, Evan B; Vietor, Nicole O; Knee, Treyce S; Nicholas, Michael; Mahfuza, Ummul; De Ieva, Antonio; Rodriguez, Michael; Preda, Veronica Angela; Akhter, Wajeeha; Gilden, Janice L; Shapiro, Joshua Nathan; Lu, Tiffany Xin; Eapen, Jane; Karam, Jocelyne Georges; Alsagheir, Osamah; Alobaid, Lulu Abdulaziz; Alswailem, Meshael; Al-Hindi, Hindi; Alzahrani, Ali Saeed; Apaydin, Tugce; Zonis, Svetlana; Zhou, Cuiqi; Barrett, Robert; Chesnokova, Vera; Melmed, Shlomo; Khan, Aysha; Alpertunga, Ipek; Kantorovich, Vitaly; Blanchard, Kayla; Musurakis, Clio; Havrylyan, Andriy; Yau, Alice; Reisman, Tamar; Arnouk, Nelly; Schroeder, Pamela Rose; Elyse Moore, M; Chen, Kevin G; Park, Kyeyoon; Asuzu, David; Ramavenkat, Nikhil; Walbridge, Stuart; Mullaney, Dustin; Arhin, Martin; Maric, Dragan; Mandal, Debjani; Chittiboina, Prashant; Fernando, Ashen Kavinda; Cheema, Rashid; Menotti, Sara; Chiloiro, Sabrina; Giampietro, Antonella; Bianchi, Antonio; Angelini, Flavia; Tartaglione, Tommaso; Antonini Cappellini, Gian Carlo; De Galitiis, Federica; Rossi, Ernesto; Schinzari, Giovanni; Scoppola, Alessandro; Pontecorvi, Alfredo; De Marinis, Laura; Fleseriu, Maria; Gilis-Januszewska, Aleksandra; Bogusławska, Anna; Godlewska, Magdalena; Kluczyński, Łukasz; Rzepka, Ewelina; Hubalewska-D, Alicja; Monsour, Elio Paul; Badour, Sanaa; Munoz Pena, Juan Manuel; Donahoo, William Troy; Zhang, Sherry; Lo, Joan C; Jaffe, Marc G; Arzumanyan, Hasmik; Slack, Daniel; Levine, Alice C; Ibrahim, Eiman Y; Hulinsky, Ilja; Regelmann, David; da Silva Mansano, Naira; Frazao, Renata; Zakkar, Adam A; Al Mushref, Mazen; Fadanelli, Margaret; Bogusławska, Anna; Kluczyński, Łukasz; Hubalewska-Dydejczyk, Alicja; Gilis-Januszewska, Aleksandra; Sonbol, Mark; Novitskaya, Maria; Monye, Joseph; Jafri, Sabih; Japp, Emily; Das, Liza; Laway, Bashir; Sahoo, Jayaprakash; Bhadada, Sanjay K; Dutta, Pinaki; Chakrabarti, Jayati; Eschbacher, Jennifer; Yuen, Kevin; Little, Andrew S; Zavros, Yana; Kuwabara, Saki; Kameda, Hiraku; Nomoto, Hiroshi; Cho, Kyu Yong; Nakamura, Akinobu; Ishi, Yukitomo; Motegi, Hiroaki; Miki, Fujimura; Miyoshi, Hideaki; Atsumi, Tatsuya; Bendaram, Snigdha Reddy; Kantorovich, Vitaly; Keskinkilic, Ayse Nur; Sistla, Divya; Shah, Rutu Jatin; Patel, Janki; Belany, Paul A; Jain, Lekha; Vickers, Mark H; Jacob, Bincy; Middleditch, Martin J; Chudakova, Daria A; Ganley, Austen R D; O'Sullivan, Justin M; Perry, Jo K; Rahmatallah, Yasir; Banik, Jewel; Bronson, Katherine; MacNicol, Melanie C; Pruis, Ilanah; Verbrug, Erik; Smits, Marion; Vernooij, Meike; Feelders, Richard Abraham; Blavers, Rutger; Velthuijzen, Sophie; Neggers, Sebastian J CM M; Yu, Jeremy H; Nguyen, Michael L; Horani, Mohamad Hosam; Shahlapour, Mahmood; Suarez, Corina Nava; Prater, Janna; Blocher, Nissa; Teja Sathi, Sri Ram; Abdelrahman, Houda; Rasiah, Stephen; Braunthal, Stephanie; Mahoney, Lindsey; Carneiro, Raquel M; Chen, Kenneth K; Kang, Yu Mi; Gildenberg, Melissa S; Quade, Bradley J; Blair, Rachel A; Dillon, Martha; Shteyman, Sara; Rashid, Waleeja; Ramchandani, Bhanvi Prakash; Samat, Aashish G; Genkil, Jessica S; Ahsun, Sana; Mohan, Nandakumar; Anastasopoulou, Catherine; Carafone, Lindsay; Vates, Edward; Johnson, Mahlon; Shafiq, Ismat; Hattori, Atsushi; Katoh-Fukui, Yuko; Zhang, Ruogu; Terao, Miho; Takada, Shuji; Nakabayashi, Kazuhiko; Hata, Kenichiro; Yamada, Yutaka; Matsuura, Nobuo; Fukami, Maki

FRI307 Gigantism Due To Transcriptional Activation Of GHRH: The First Case Of Hormone-encoding Gene Overexpression Underlying A Congenital Disorder

FRI307 生长激素释放激素转录激活引起的巨人症:首例由激素编码基因过表达导致的先天性疾病

Steiner, Jack E; McCoy, Garrett N; Hess, Christopher P; Dobyns, William B; Metry, Denise W; Drolet, Beth A; Maheshwari, Mohit; Siegel, Dawn H; Chowdary Davuluri, Harika; Kaur, Kamalpreet; Chaulagain, Prashant; Irina Krug, Esther; Tunç, Ali; Muradov, Ilkin; Sulu, Cem; Çapar, Mehmet Umut; Kadıoğlu, Pınar; Yu, Jeremy H; Nguyen, Michael L; Horani, Mohamad Hosam; Shahlapour, Mahmood; Hattori, Atsushi; Katoh-Fukui, Yuko; Zhang, Ruogu; Terao, Miho; Takada, Shuji; Nakabayashi, Kazuhiko; Hata, Kenichiro; Yamada, Yutaka; Matsuura, Nobuo; Fukami, Maki

Turnover of mammal sex chromosomes in the Sry-deficient Amami spiny rat is due to male-specific upregulation of Sox9

在缺乏Sry基因的奄美棘鼠中,哺乳动物性染色体的更替是由于雄性特异性的Sox9基因上调所致。

Terao, Miho; Ogawa, Yuya; Takada, Shuji; Kajitani, Rei; Okuno, Miki; Mochimaru, Yuta; Matsuoka, Kentaro; Itoh, Takehiko; Toyoda, Atsushi; Kono, Tomohiro; Jogahara, Takamichi; Mizushima, Shusei; Kuroiwa, Asato

Lysosomal Acid Lipase Deficiency: Genetics, Screening, and Preclinical Study

溶酶体酸性脂肪酶缺乏症:遗传学、筛查和临床前研究

Mashima, Ryuichi; Takada, Shuji

Lipid Nanoparticles: A Novel Gene Delivery Technique for Clinical Application

脂质纳米颗粒:一种用于临床应用的新型基因递送技术

Mashima, Ryuichi; Takada, Shuji