Results 181 to 190 of about 225,004 (293)

Newborn screening for sickle cell disease in Caluquembe, southwestern Angola, 2024-2025. [PDF]

PLoS One
Su JJ, Kupua VS, Cummings D, Jacobsen KH.   +3 more
europepmc   +1 more source

Seipin‐Mediated Lipid Droplet Formation in Cardiomyocytes Ameliorates Cardiac Ischemia/Reperfusion Injury

Advanced Science, EarlyView.
Lipid droplets (LDs) protect the heart against lipotoxicity in cardiac ischemia/reperfusion (I/R) injury; however, they are insufficient to prevent cardiomyocyte death. Seipin plays a central role in the insufficient formation of LDs, subsequent lipotoxicity, and myocardial injury during cardiac I/R injury.
Changyun Liu, Junxia Zhang, Yusi Chen, Geng Shen, Yufei Han, Zihao Zhou, Jinxuan Chen, Xuya Kang, Huilin Qu, Jiaxin Duanmu, Haibao Shang, Yingjia Li, Wei Huang, Yan Zhang   +13 more
wiley   +1 more source

Molecular Testing in Sickle Cell Disease: From Newborn Screening to Transfusion Care [PDF]

Thomas Pincez, Yves Pastore
openalex   +1 more source

Uric Acid Functions as an Endogenous Modulator of Microglial Function and Amyloid Clearance in Alzheimer's Disease

Advanced Science, EarlyView.
Higher serum UA levels are associated with reduced AD risk in epidemiological studies. UA enhances microglial phagocytic capacity primarily by restoring CD36 and TREM2 receptor recycling that is impaired by Aβ exposure. Therapeutically, UA supplementation improves cognitive function and reduces neuropathology in AD mouse model by enhancing microglial ...
De Xie, Qiuyang Zheng, Jiaming Lv, Qian Zhang, Zhiwei Cui, Shuai Huang, Wei Yu, Binyang Chen, Wanling Que, Shanpan Fu, Yuemei Xi, Jiayu Chen, Xueling Ye, Shuyi Chen, Hairong Zhao, Tetsuya Yamamoto, Hidenori Koyama, Xin Wang, Jidong Cheng   +18 more
wiley   +1 more source

Globalizing newborn screening: bridging gaps in genetic diagnosis and treatment. [PDF]

Front Pediatr
Tariq H, Salpietro V, Houlden H, Stevanin G.   +3 more
europepmc   +1 more source

Parent’s Satisfaction of Universal Newborn Hearing Screening Program in Iran

, 2021
Arash Bayat, Farzaneh Zamiri Abdollahi, Nader Saki, Farzad Faraji Khiavi, Saeed Mohammadian, Mohammadsaleh Moosapour Bardsiri, Reza Hoseinabadi   +6 more
openalex   +2 more sources

Site‐Specific Mitochondrial RNA N1‐Methyladenosine Demethylation via an Engineered MTS‐PUF‐ALKBH3 Fusion Protein

Advanced Science, EarlyView.
A CRISPR‐free mitochondrial RNA m1A demethylation (MRD) editor combining MTS, PUF proteins, and ALKBH3 enables precise m1A removal from mitochondrial mRNA and tRNA, which influences mitochondrial protein levels, cellular proliferation, ATP production, and mitochondrial respiration. Subsequently, in vivo demethylation of the m1A modification is achieved
Xiangrui Li, Deqiang Kong, Hongmei Liu, Jie Yang, Jiale Zhou, Yuqiang Qian, Ding Zhao, Jinze Li, Xinyu Wu, Tao Zhang, Xiaodi Sun, Yang Han, Liangxue Lai, Zhanjun Li   +13 more
wiley   +1 more source

Piezo1 Upregulation in Monocyte‐Derived Macrophages Impairs Post‐Myocardial Infarction Cardiac Repair via Defective Efferocytosis and Enhanced Ferroptosis

Advanced Science, EarlyView.
This study reports early Piezo1 activation in bone marrow monocyte‐derived macrophages (MoMs) during myocardial infarction (MI), which governs the fate and function of recruited macrophages. The recruited MoMs with increased Piezo1 expression exhibit increased ferroptosis and defective efferocytosis, delayed clearance of dead cells and resolution of ...
Lu Peng, Yunlong Xia, Huishou Zhao, Yongzhen Guo, Xiaoming Xu, Xue Han, Shiyue Wang, Fengyue Ding, Quanchi Liu, Congye Li, Yuan He, Zhaoyi Luo, Qiaojuan Wang, Xing Zhang, Feng Gao, Yajing Wang, Yulin Li, Shengpeng Wang, Ling Tao, Wenjun Yan   +19 more
wiley   +1 more source

Severe Undiagnosed Congenital Hypothyroidism Due to Missed Newborn Screening. [PDF]

JCEM Case Rep
Zhang M, Golchin A, Donner J, Lee MY, Seeley H, Meister KD.   +5 more
europepmc   +1 more source

The First Year Experience of Newborn Screening for Pompe Disease in California [PDF]

, 2020
Hao Tang, Lisa Feuchtbaum, Stanley Sciortino, Jamie Matteson, Deepika Mathur, Tracey Bishop, Richard S. Olney   +6 more
openalex   +1 more source