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

Colocalization and functional analyses identify GBE1 as a gene linking muscle strength and cardiometabolic fitness

共定位和功能分析表明,GBE1 是一个连接肌肉力量和心血管代谢健康的基因。

Schnurr, Theresia M; Johnson, Miranda L; Jin, Christopher; Sørensen, Kimmie V; Kim, Lindsey; Jahng, James W; Ramste, Amanda; Bielczyk-Maczynska, Ewa; Gloudemans, Michael J; Saliba-Gustafsson, Peter; Vinton, Elena; Jurney, Patrick L; Carcamo-Orive, Ivan; Ashley, Euan A; Hansen, Torben; Knowles, Joshua W; Palmisano, Brian T

The ERBB2 c.1795C>T, p.Arg599Cys variant is associated with left ventricular outflow tract obstruction defects in humans.

ERBB2 c.1795C>T,p.Arg599Cys 变异与人类左心室流出道梗阻缺陷有关

Ampuja Minna, Ericsson Sabina, Paatero Ilkka, Chowdhury Iftekhar, Villman Jenna, Broberg Martin, Ramste Amanda, Balboa Diego, Ojala Tiina, Chong Jessica X, Bamshad Michael J, Priest James R, Varjosalo Markku, Kivelä Riikka, Helle Emmi

Enhancer-targeting CRISPR screens at coronary artery disease loci suggest shared mechanisms of disease risk

针对冠状动脉疾病基因位点的增强子靶向 CRISPR 筛选提示疾病风险存在共同机制。

Ramste, Markus; Weldy, Chad; Kundu, Soumya; Zhao, Quanyi; Li, Daniel; Brand, Kayla; Sharma, Disha; Ramste, Amanda; Jagoda, Evelyn; Ray, Judhajeet; Caceres, Roxanne Diaz; Galante, James; Gschwind, Andreas R; Lahtinen, Nuutti; Nguyen, Trieu; Amrute, Junedh M; Park, Chong Yong; Kim, Juyong Brian; Kaikkonen, Minna U; Stitziel, Nathan O; Steinmetz, Lars; Kundaje, Anshul; Engreitz, Jesse M; Quertermous, Thomas