Results 181 to 190 of about 1,407,914 (310)

Newborn screening results for sickle cell disease from the ASH Consortium on Newborn Screening in Africa (CONSA). [PDF]

Blood Adv
Awuonda BO, Kiyaga C, Chirande L, Franklin PC, Nnodu OE, Ambrose EE, Dogara LG, Chunda-Liyoka CM, Segbefia CI, Zapfel A, Benoit MA, Odame I, Tubman VN, Achebe MO, Thompson AA, Green NS, Berliner N, Novelli EM, Coetzer TL, Ware RE.   +19 more
europepmc   +1 more source

Maternal Hyperglycemia Disrupts Cerebral Cortex Development Through the Foxp1‐Dll1‐Notch Axis

Advanced Science, EarlyView.
Maternal hyperglycemia disrupts offspring cortical development through a Foxp1–Dll1–Notch signaling axis. In a PGDM mouse model, intrauterine hyperglycemia decreases cortical thickness and perturbs neuronal layering by downregulating Foxp1, which transcriptionally regulates the Notch ligand Dll1.
Longkai He, Ya Jin, Guosheng Liu, Hao Liu, Xinyi Zhu, Weipeng Xu, Wei Li, Meiyao He, Yao Shen, Bingxiao Li, Xuesong Yang, Xiaoyu Wang, Shasha Han   +12 more
wiley   +1 more source

Precision Nanomedicine for Traumatic Neural Injury: Functional Paradigms and Translational Frameworks

Advanced Science, EarlyView.
This review presents a pathology‐driven framework unifying nanomedicine across TBI, SCI, and PNI. Epidemiological evidence and comparative single‐cell transcriptomic reanalysis define shared pathological modules, injury‐specific effectors, and therapeutic bottlenecks. Six functional paradigms connect nanomaterial structure and biological fate to injury‐
Mouyuan Sun, Shuangyang Li, Zhixu He, Jingyi Xie, Yaxian Luo, Xuankai Fan, Jingyu Zhang, Luying Qin, Lianjie Peng, Tao Qiu, Tian Zhang, Huiming Wang, Mengfei Yu   +12 more
wiley   +1 more source

Classical Homocystinuria Incidentally Diagnosed Following a Normal Newborn Screening Result. [PDF]

Int J Neonatal Screen
González de Aledo-Castillo JM, Casado-Río M, Pajares S, Meavilla Olivas S, Gort L, Martí Sánchez L, Paredes-Fuentes AJ, Pias-Peleteiro L, Gomez-Chiari M, Quintana Vidaurri M, López-Galera RM, Argudo-Ramírez A, Sainz de Medrano J, Artuch Iriberri R, García-Villoria J, Ormazábal Herrero A.   +15 more
europepmc   +1 more source

Astrocyte‐Associated ABCA1/APOE Responses Accompany Hippocampal Lipid Remodeling and Ectopic Neuronal Accumulation During Epileptogenesis

Advanced Science, EarlyView.
During kainic acid‐induced epileptogenesis, astrocyte‐associated ATP‐binding cassette transporter A1 (ABCA1) and apolipoprotein E (APOE) responses accompany ectopic neurons and exploratory lipid alterations. In separate cohorts, bexarotene pretreatment and treatment on days 14–21 are associated with fewer ectopic hilar neurons and lower chronic seizure
Lu Chen, Xiao‐Rui Shi, Jia‐Yi Chen, Ying‐Ting Wang, Le Du, Yang Ni, Jun‐Min Chen, An‐Chen Guo, Qian Wu, Jian‐Ping Wu, Qun Wang   +10 more
wiley   +1 more source

Parental Perceptions and Decision-Making Processes Regarding Expanded Newborn Screening: A Qualitative Study. [PDF]

Int J Neonatal Screen
Harazaki M, Wada Y, Notake M, Takabayashi N, Kurebayashi F, Hawke P, Hatta T, Usui T, Yamazaki H.   +8 more
europepmc   +1 more source

Astrocytic Ketogenesis Protects Central Nervous System Injury via CPT1A Stabilization and Epigenetic Regulation

Advanced Science, EarlyView.
A distinct astrocyte subpopulation, enriched at the lesion border, drives CNS repair through enhanced ketone body metabolism. This process promotes neuronal survival and axonal sparing via CPT1A stabilization and H3K9bhb‐dependent epigenetic reprogramming, positioning astrocytic ketogenesis as a promising therapeutic target for tissue regeneration ...
Dishui Pan, Haoming Shu, Rui Gao, Yilong Ren, Wu Ye, Xuhui Ge, Yao Gu, Yufeng Zhu, Xiaokun Wang, Honglin Teng, Xuhui Zhou, Wei Liu, Yang Gao, Jianquan Zhao, Weihua Cai   +14 more
wiley   +1 more source

Nationwide TREC/KREC-based newborn screening and clinical outcomes in Japan. [PDF]

J Hum Immun
Nishinosono T, Muramatsu H, Wakamatsu M, Ishige N, Hanai J, Imaizumi T, Ueki M, Sasahara Y, Kawai T, Uejima Y, Yasumi T, Okada S, Eguchi M, Ishimura M, Mizukami T, Yamada M, Ohnishi H, Tajima G, Imai K, Newborn Screening Working Group, Japanese Society for Immunodeficiency and Autoinflammatory Diseases.   +20 more
europepmc   +1 more source

Macrophage GLUD1 is Essential for Redox Balance and Immune Homeostasis in Cardiac Injury

Advanced Science, EarlyView.
Excessive free radical production and dysregulated immune responses are key contributors to myocardial ischemia‐reperfusion (IR) injury. Macrophage GLUD1 activity safeguards against HIF‐1α accumulation and maladaptive responses to IR‐induced ROS production.
Tingting Jin, Chaojie Lai, Qingyan Zhou, Ruilin Wang, Yiping Tong, Wentao Chen, Nikola Rabrenovic, Tingyu Zhang, Xinrong Ren, Chengchen Huang, Jiawen Chen, Ran Li, Luyang Yu, Massimiliano Mazzone, Wenbin Zhang, Guosheng Fu, Min Shang   +16 more
wiley   +1 more source

Spectrum of inherited metabolic disorders diagnosed through newborn screening and symptomatic referrals in Eastern Türkiye. [PDF]

Mol Genet Metab Rep
Arslan S, Ekinci Uğan F, Yaralı O, Kahveci H.   +3 more
europepmc   +1 more source