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

PCBP1 regulates alternative splicing of AARS2 in congenital cardiomyopathy

PCBP1 调控先天性心肌病中 AARS2 的选择性剪接

Lu, Yao Wei; Liang, Zhuomin; Dorr, Kerry; Ruiz, Samantha; Huang, Xiaoran; Fangnibo Hanvi, Denise; Juntilla, Sheri M; Beutner, Gisela; Lyu, Shuhan; Guo, Haipeng; Fernandes, Tiago; Espinoza-Lewis, Ramon A; Wang, Tingting; Li, Kathryn; Li, Xue; Bir Singh, Gurinder; Wang, Yi; Deng, Rui; Cowan, Douglas; Mably, John D; Pu, William T; Huang, Jessie; Porter, George A Jr; Conlon, Frank; Chen, Hong; Wang, Da-Zhi

Inhibition of Cyclophilin D Rescues Cardiac Function and Bioenergetic Defects Caused by Neonatal Hypoxia

抑制环孢亲和素D可挽救新生儿缺氧引起的心脏功能和生物能量缺陷

Burris, Jonathan R; Beutner, Gisela; Yee, Min; Simon, Bartholomew V; Swartz, Michael F; Boudreau, Kathryn B; Cohen, Ethan D; Kulkarni, Chaitanya A; Hasan, Prottoy; Wang, Hongyue; de Mesy Bentley, Karen L; Hajnóczky, György; Alfieris, George M; Small, Eric M; Brookes, Paul S; O'Reilly, Michael A; Porter, George A Jr

Machine learning to infer neurocognitive testing scores among adolescents and young adults with congenital heart disease

利用机器学习推断患有先天性心脏病的青少年和年轻成人的神经认知测试分数

Hussain, Mohammad Arafat; He, Sheng; Adams, Heather R; Anagnoustou, Evdokia; Bellinger, David C; Brueckner, Martina; Chung, Wendy K; Cleveland, John; Gelb, Bruce D; Goldmuntz, Elizabeth; Hagler, Donald J Jr; Huang, Hao; McQuillen, Patrick; Miller, Thomas A; Norris-Brilliant, Ami; Porter, George A Jr; Thomas, Nina; Tivarus, Madalina E; Xu, Duan; Shen, Yufeng; Newburger, Jane W; Grant, P Ellen; Morton, Sarah U; Ou, Yangming

Dysregulated TGFβ-ERK Signaling Drives Aberrant Extracellular Matrix Production in Noonan Syndrome-Associated Pulmonary Valve Stenosis

TGFβ-ERK信号通路失调驱动努南综合征相关肺动脉瓣狭窄中异常的细胞外基质生成

Liu, Clifford Z; Patel, Shrey; Sidoli, Simone; Prasad, Aditi; Charytonowicz, Daniel; Mazine, Amine; Mikryukov, Alexander A; Abdul-Ghafar, Jamshid; Kahn, Elizabeth S; Young, Dejauwne; Porter, George A Jr; Katzman, Philip J; Sanders, Stephen P; Carreon, Chrystalle Katte; Hubmacher, Dirk; Lincoln, Joy; Keller, Gordon M; Chung, Wendy K; Sebra, Robert; Gelb, Bruce D

Graph-based prototype inverse-projection for identifying cortical sulcal pattern abnormalities in congenital heart disease

基于图的原型逆投影法用于识别先天性心脏病皮质沟回模式异常

Kwon, Hyeokjin; Son, Seungyeon; Morton, Sarah U; Wypij, David; Cleveland, John; Rollins, Caitlin K; Huang, Hao; Goldmuntz, Elizabeth; Panigrahy, Ashok; Thomas, Nina H; Chung, Wendy K; Anagnostou, Evdokia; Norris-Brilliant, Ami; Gelb, Bruce D; McQuillen, Patrick; Porter, George A Jr; Tristani-Firouzi, Martin; Russell, Mark W; Roberts, Amy E; Newburger, Jane W; Grant, P Ellen; Lee, Jong-Min; Im, Kiho

Recessive genetic contribution to congenital heart disease in 5,424 probands

5424例先证者中隐性遗传因素对先天性心脏病的影响

Dong, Weilai; Jin, Sheng Chih; Sierant, Michael C; Lu, Ziyu; Li, Boyang; Lu, Qiongshi; Morton, Sarah U; Zhang, Junhui; López-Giráldez, Francesc; Nelson-Williams, Carol; Knight, James R; Zhao, Hongyu; Cao, Junyue; Mane, Shrikant; Gruber, Peter J; Lek, Monkol; Goldmuntz, Elizabeth; Deanfield, John; Giardini, Alessandro; Mital, Seema; Russell, Mark; Gaynor, J William; Cnota, James F; Wagner, Michael; Srivastava, Deepak; Bernstein, Daniel; Porter, George A Jr; Newburger, Jane; Roberts, Amy E; Yandell, Mark; Yost, H Joseph; Tristani-Firouzi, Martin; Kim, Richard; Seidman, Jonathan; Chung, Wendy K; Gelb, Bruce D; Seidman, Christine E; Lifton, Richard P; Brueckner, Martina

Genomic analysis of 11,555 probands identifies 60 dominant congenital heart disease genes

对 11,555 名先证者的基因组分析鉴定出 60 个显性先天性心脏病基因

Sierant, Michael C; Jin, Sheng Chih; Bilguvar, Kaya; Morton, Sarah U; Dong, Weilai; Jiang, Wei; Lu, Ziyu; Li, Boyang; López-Giráldez, Francesc; Tikhonova, Irina; Zeng, Xue; Lu, Qiongshi; Choi, Jungmin; Zhang, Junhui; Nelson-Williams, Carol; Knight, James R; Zhao, Hongyu; Cao, Junyue; Mane, Shrikant; Sedore, Stanley C; Gruber, Peter J; Lek, Monkol; Goldmuntz, Elizabeth; Deanfield, John; Giardini, Alessandro; Mital, Seema; Russell, Mark; Gaynor, J William; King, Eileen; Wagner, Michael; Srivastava, Deepak; Shen, Yufeng; Bernstein, Daniel; Porter, George A Jr; Newburger, Jane W; Seidman, Jonathan G; Roberts, Amy E; Yandell, Mark; Yost, H Joseph; Tristani-Firouzi, Martin; Kim, Richard; Chung, Wendy K; Gelb, Bruce D; Seidman, Christine E; Brueckner, Martina; Lifton, Richard P

Noncoding variants and sulcal patterns in congenital heart disease: Machine learning to predict functional impact

先天性心脏病中的非编码变异和脑沟模式:利用机器学习预测其功能影响

Mondragon-Estrada, Enrique; Newburger, Jane W; DePalma, Steven R; Brueckner, Martina; Cleveland, John; Chung, Wendy K; Gelb, Bruce D; Goldmuntz, Elizabeth; Hagler, Donald J Jr; Huang, Hao; McQuillen, Patrick; Miller, Thomas A; Panigrahy, Ashok; Porter, George A Jr; Roberts, Amy E; Rollins, Caitlin K; Russell, Mark W; Tristani-Firouzi, Martin; Grant, P Ellen; Im, Kiho; Morton, Sarah U

Low magnetic fields stimulate cardiac mitochondrial bioenergetics with a bell-shaped response: Possibly via a radical pair mechanism

低磁场刺激心脏线粒体生物能量学,呈现钟形响应:可能通过自由基对机制实现。

Beutner, Gisela; Yuh, Huoy-Jen; Goldenberg, Ilan; Wallace, Douglas C; Porter, George A Jr; Moss, Arthur J; Sheu, Shey-Shing

Whole genome transcriptomics reveal distinct atrial versus ventricular responses to neonatal hyperoxia.

全基因组转录组学揭示了新生儿高氧血症下心房和心室的不同反应

Cohen E David, Yee Min, Roethlin Kyle, Prelipcean Irina, Small Eric M, Porter George A Jr, O'Reilly Michael A