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

Early-Onset Retinopathy in Patients With Variants in SLC6A6 Leading to Impaired Taurine Transport

SLC6A6基因变异导致牛磺酸转运受损的患者会出现早发性视网膜病变

Ullah, Mukhtar; Rehman, Atta Ur; Shetty, Madhur; Allen, Michael D; Ullah, Ehsan; Signorini, Sabrina G; des Roziers, Cyril Burin; Grijalva, Rosalie M; Rashid, Abdur; Munir, Asad; Porretta, Alessandra Pia; Valente, Enza Maria; Agather, Aime R; Dimopoulos, Ioannis; Hufnagel, Robert B; Malandain, Edouard; Coursimault, Juliette; Ansar, Muhammad; Antonarakis, Stylianos E; Superti-Furga, Andrea; Jan, Sanaullah; Brooks, Brian P; Calzetti, Giacomo; Guan, Bin; Quinodoz, Mathieu; Henry, L Keith; Rivolta, Carlo

Splicing variants in MYRF cause partial loss of function in the retinal pigment epithelium leading to nanophthalmos

MYRF基因的剪接变异会导致视网膜色素上皮细胞部分功能丧失,从而导致小眼球症。

Rozumek, Gabrielle M; Brinkmeier, Michelle L; Guan, Bin; Wang, Su Qing; Tower, Catherine; Yang, Nina T; Lim, Rachel S; Kong, Dejuan; Soden, Daniel; Zhang, Qitao; Han, John Ys; Miller, Jason Ml; Dong, Lijin; Hannum, D Ford; Moroi, Sayoko E; Richards, Julia E; Hufnagel, Robert B; Prasov, Lev

Whole-Genome Analysis of a Historical Strain of Xanthomonas citri pv. citri Reveals Structural Variations

对柑橘黄单胞菌柑橘致病变种历史菌株的全基因组分析揭示了结构变异

Li, Wenting; He, Li; Guan, Bin; Zeng, Xiaoxue; Zheng, Zheng; He, Jian

The Developmental Landscape of Children With Uveal Coloboma and Its Relationship With Clinical Phenotype and Genetics

葡萄膜缺损患儿的发育概况及其与临床表型和遗传学的关系

Brooks, Brian P; Hehn, Alexandra T; Blain, Delphine; Farmer, Cristan; Joseph, Lisa A; Wiggs, Edythe; Segalà, Laura; Guan, Bin; Thurm, Audrey; Pathapadu, Ananya S

Targeting Oncogenic lncRNA KRT7-AS to Induce Ferroptosis Suppresses Ovarian Cancer Progression

靶向致癌长链非编码RNA KRT7-AS诱导铁死亡可抑制卵巢癌进展

Zhu, Yan; Guan, Bin; Guan, Wencai; Zhang, Jihong; Wang, Shiyu; Shi, Jimin; Fan, Wei; Lu, Qi; Zhang, Lingyun; Xu, Guoxiong

Variants in NR6A1 cause a novel oculo vertebral renal syndrome

NR6A1基因变异导致一种新型眼椎肾综合征

Neelathi, Uma M; Ullah, Ehsan; George, Aman; Maftei, Mara I; Boobalan, Elangovan; Sanchez-Mendoza, Daniel; Adams, Chloe; McGaughey, David; Sergeev, Yuri V; Ai Rawi, Ranya; Naik, Amelia; Bender, Chelsea; Maumenee, Irene H; Michaelides, Michel; Tan, Tun Giap; Lin, Siying; Villasmil, Rafael; Blain, Delphine; Hufnagel, Robert B; Arno, Gavin; Young, Rodrigo M; Guan, Bin; Brooks, Brian P

Role of evolving sea surface temperature modes of variability in improving seasonal precipitation forecasts

不断变化的海表温度变率模式在改进季节性降水预测中的作用

Sengupta, Agniv; Waliser, Duane E; DeFlorio, Michael J; Guan, Bin; Delle Monache, Luca; Ralph, F Martin

Photo-induced dehalogenative deuteration and elimination of alkyl halides enabled by phosphine-mediated halogen-atom transfer

膦介导的卤素原子转移可实现光诱导的烷基卤化物脱卤氘代和消除反应

Shi, Wei; Guan, Bin; Tian, Jian; Yang, Chao; Guo, Lin; Zhao, Yating; Xia, Wujiong

In silico design of novel precision vaccine targeting sclerostin epitopes for osteoporosis prevention and treatment

利用计算机模拟设计靶向硬骨蛋白表位的新型精准疫苗,用于骨质疏松症的预防和治疗

Luo, Jianzhou; Wu, Tailin; Guan, Bin; Li, Lin; Yang, Zili; Tao, Huiren

Genotype-Phenotype Spectrum of eyeGENE Patients With Familial Exudative Vitreoretinopathy: Novel Variants in Norrin/β-Catenin Signaling Pathway Genes

eyeGENE 家族性渗出性玻璃体视网膜病变患者的基因型-表型谱:Norrin/β-catenin 信号通路基因的新变异

Yaylacioglu Tuncay, Fulya; Reeves, Melissa J; Yousaf, Sairah; Ullah, Ehsan; Guan, Bin; Goetz, Kerry E; Tumminia, Santa J; Hufnagel, Robert B