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

Mss51 deletion enhances muscle metabolism and glucose homeostasis in mice

Mss51 缺失增强小鼠的肌肉代谢和葡萄糖稳态

Yazmin I Rovira Gonzalez, Adam L Moyer, Nicolas J LeTexier, August D Bratti, Siyuan Feng, Congshan Sun, Ting Liu, Jyothi Mula, Pankhuri Jha, Shama R Iyer, Richard M Lovering, Brian O'Rourke, Hye Lim Noh, Sujin Suk, Jason K Kim, George K Essien Umanah, Kathryn R Wagner

Transient rapamycin treatment can increase lifespan and healthspan in middle-aged mice

短暂的雷帕霉素治疗可以延长中年小鼠的寿命和健康寿命。

Bitto, Alessandro; Ito, Takashi K; Pineda, Victor V; LeTexier, Nicolas J; Huang, Heather Z; Sutlief, Elissa; Tung, Herman; Vizzini, Nicholas; Chen, Belle; Smith, Kaleb; Meza, Daniel; Yajima, Masanao; Beyer, Richard P; Kerr, Kathleen F; Davis, Daniel J; Gillespie, Catherine H; Snyder, Jessica M; Treuting, Piper M; Kaeberlein, Matt

Abstracts from the 15th International Myopia Conference: Wenzhou, P.R. China. 23-27 September 2015

第十五届国际近视大会摘要:中国温州,2015年9月23-27日

Bonnet, Crystel; Riahi, Zied; Chantot-Bastaraud, Sandra; Smagghe, Luce; Letexier, Mélanie; Marcaillou, Charles; Lefèvre, Gaëlle M; Hardelin, Jean-Pierre; El-Amraoui, Aziz; Singh-Estivalet, Amrit; Mohand-Saïd, Saddek; Kohl, Susanne; Kurtenbach, Anne; Sliesoraityte, Ieva; Zobor, Ditta; Gherbi, Souad; Testa, Francesco; Simonelli, Francesca; Banfi, Sandro; Fakin, Ana; Glavač, Damjan; Jarc-Vidmar, Martina; Zupan, Andrej; Battelino, Saba; Martorell Sampol, Loreto; Claveria, Maria Antonia; Catala Mora, Jaume; Dad, Shzeena; Møller, Lisbeth B; Rodriguez Jorge, Jesus; Hawlina, Marko; Auricchio, Alberto; Sahel, José-Alain; Marlin, Sandrine; Zrenner, Eberhart; Audo, Isabelle; Petit, Christine; Benavente-Perez, Alexandra; Nour, Ann; Ansel, Tobin; Abarr, Kathleen; Yan, Luying; Roden, Keisha; Troilo, David; Lu, Chanyi; Pan, Miaozhen; Zheng, Min; Qu, Jia; Zhou, Xiangtian; Wildsoet, Christine F; Lu, Fan; Zhou, Xiangtian; Chen, Jie; Bao, Jinhua; Hu, Liang; Wang, Qinmei; Jin, Zibing; Qu, Jia; Rucker, Frances; Britton, Stephanie; Hanowsky, Stephan; Spatcher, Molly; Kuo, Hui-Ying; Ke, Ching-Hsiu; Kuo, I-Hsin; Peng, Chien-Chun; Sun, Han-Yin; Morgan, Ian G; Guggenheim, Jeremy A; Shah, Rupal L; Williams, Cathy; Yang, Jinglei; Reinach, Peter S; Zhang, Sen; Pan, Miaozhen; Sun, Wenfeng; Liu, Bo; Li, Fen; Li, Xiaoqing; Zhao, Aihua; Chen, Tianlu; Jia, Wei; Qu, Jia; Zhou, Xiangtian; Jiang, Jun; Wu, Haoran; Lu, Fan; Tsubota, Kazuo; Ozawa, Hiroko; Torii, Hidemasa; Takamizawa, Shigemasa; Kurihara, Toshihide; Negishi, Kazuno; Graef, Klaus; Rathbun, Daniel; Schaeffel, Frank; Ghodsi, Ladan; Stell, William K; Pardue, Machelle T; Chakraborty, Ranjay; Park, Han na; Sidhu, Curran S; Iuvone, P Michael; Collins, Michael J; Srinvasalu, Nethrajeith; McFadden, Sally A; Baird, Paul N; Iuvone, P Michael; Artal, Pablo; Cho, Pauline; Cheung, SW; Wu, Pei-Chang; Hoang, Quan V; McFadden, Sally A; Chakraborty, Ranjay; Lee, Duk C; Landis, Erica G; Bergen, Michael A; Sidhu, Curran; Hattar, Samer; Iuvone, P Michael; Stone, Richard A; Pardue, Machelle T; Metlapally, Ravi; Li, Ruiqin; Xu, Qinglin; Zhong, Hong; Pan, Chenglin; Lan, Weizhong; Li, Xiaoning; Chen, Ling; Yang, Zhikuan; Read, Scott A; Saw, Seang-Mei; Weng, Shi-Jun; Wu, Xiao-Hua; Qian, Kang-Wei; Li, Yun-Yun; Xu, Guo-Zhong; Huang, Furong; Zhou, Xiangtian; Qu, Jia; Yang, Xiong-Li; Zhong, Yong-Mei; Smith, Earl L III; Arumugam, Baskar; Hung, Li-Fang; Ostrin, Lisa A; Trier, Klaus; Jong, Monica; Holden, Brien A; Lam, Thomas Chuen; Shan, Samantha; Zuo, Bing; McFadden, Sally A; Tse, Dennis Yan-yin; Bian, Jingfang; Li, King-Kit; Liu, Quan; To, Chi-ho; Gawne, Timothy J; Siegwart, John T Jr; Ward, Alexander H; Norton, Thomas T; Zhou, Xiangtian; Zhang, Yan; Liu, Yue; Ho, Carol; Phan, Eileen; Hang, Abraham; Eng, Emily; Wildsoet, Christine

Functional variants of POC5 identified in patients with idiopathic scoliosis

在特发性脊柱侧弯患者中发现的POC5功能变异

Patten, Shunmoogum A; Margaritte-Jeannin, Patricia; Bernard, Jean-Claude; Alix, Eudeline; Labalme, Audrey; Besson, Alicia; Girard, Simon L; Fendri, Khaled; Fraisse, Nicolas; Biot, Bernard; Poizat, Coline; Campan-Fournier, Amandine; Abelin-Genevois, Kariman; Cunin, Vincent; Zaouter, Charlotte; Liao, Meijiang; Lamy, Raphaelle; Lesca, Gaetan; Menassa, Rita; Marcaillou, Charles; Letexier, Melanie; Sanlaville, Damien; Berard, Jerome; Rouleau, Guy A; Clerget-Darpoux, Françoise; Drapeau, Pierre; Moldovan, Florina; Edery, Patrick

Next-generation sequencing applied to a large French cone and cone-rod dystrophy cohort: mutation spectrum and new genotype-phenotype correlation

对法国大型视锥细胞和视锥-视杆细胞营养不良队列进行新一代测序:突变谱和新的基因型-表型相关性

Boulanger-Scemama, Elise; El Shamieh, Said; Démontant, Vanessa; Condroyer, Christel; Antonio, Aline; Michiels, Christelle; Boyard, Fiona; Saraiva, Jean-Paul; Letexier, Mélanie; Souied, Eric; Mohand-Saïd, Saddek; Sahel, José-Alain; Zeitz, Christina; Audo, Isabelle

Targeted next generation sequencing identifies novel mutations in RP1 as a relatively common cause of autosomal recessive rod-cone dystrophy

靶向二代测序技术发现RP1基因存在新的突变,而RP1基因是常染色体隐性遗传性视杆细胞-视锥细胞营养不良症的常见病因。

El Shamieh, Said; Boulanger-Scemama, Elise; Lancelot, Marie-Elise; Antonio, Aline; Démontant, Vanessa; Condroyer, Christel; Letexier, Mélanie; Saraiva, Jean-Paul; Mohand-Saïd, Saddek; Sahel, José-Alain; Audo, Isabelle; Zeitz, Christina

Whole-exome sequencing identifies KIZ as a ciliary gene associated with autosomal-recessive rod-cone dystrophy

全外显子组测序鉴定出KIZ是一种与常染色体隐性遗传性视杆细胞-视锥细胞营养不良相关的纤毛基因。

El Shamieh, Said; Neuillé, Marion; Terray, Angélique; Orhan, Elise; Condroyer, Christel; Démontant, Vanessa; Michiels, Christelle; Antonio, Aline; Boyard, Fiona; Lancelot, Marie-Elise; Letexier, Mélanie; Saraiva, Jean-Paul; Léveillard, Thierry; Mohand-Saïd, Saddek; Goureau, Olivier; Sahel, José-Alain; Zeitz, Christina; Audo, Isabelle

Whole-exome sequencing identifies LRIT3 mutations as a cause of autosomal-recessive complete congenital stationary night blindness

全外显子组测序发现LRIT3突变是常染色体隐性遗传完全性先天性静止性夜盲症的病因

Zeitz, Christina; Jacobson, Samuel G; Hamel, Christian P; Bujakowska, Kinga; Neuillé, Marion; Orhan, Elise; Zanlonghi, Xavier; Lancelot, Marie-Elise; Michiels, Christelle; Schwartz, Sharon B; Bocquet, Béatrice; Antonio, Aline; Audier, Claire; Letexier, Mélanie; Saraiva, Jean-Paul; Luu, Tien D; Sennlaub, Florian; Nguyen, Hoan; Poch, Olivier; Dollfus, Hélène; Lecompte, Odile; Kohl, Susanne; Sahel, José-Alain; Bhattacharya, Shomi S; Audo, Isabelle

Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness

全外显子组测序鉴定出 GPR179 突变,导致常染色体隐性完全性先天性静止性夜盲症

Isabelle Audo, Kinga Bujakowska, Elise Orhan, Charlotte M Poloschek, Sabine Defoort-Dhellemmes, Isabelle Drumare, Susanne Kohl, Tien D Luu, Odile Lecompte, Eberhart Zrenner, Marie-Elise Lancelot, Aline Antonio, Aurore Germain, Christelle Michiels, Claire Audier, Mélanie Letexier, Jean-Paul Saraiva, 

CRB1 mutations in inherited retinal dystrophies

遗传性视网膜营养不良中的CRB1突变

Bujakowska, Kinga; Audo, Isabelle; Mohand-Saïd, Saddek; Lancelot, Marie-Elise; Antonio, Aline; Germain, Aurore; Léveillard, Thierry; Letexier, Mélanie; Saraiva, Jean-Paul; Lonjou, Christine; Carpentier, Wassila; Sahel, José-Alain; Bhattacharya, Shomi S; Zeitz, Christina