Results 131 to 140 of about 120,158 (339)

Perceived control is significantly associated with psychological adaptation in individuals with known or suspected inborn errors of immunity [PDF]

, 2023
Michael Setzer, Yan Jia, Lori H. Erby, Morgan Similuk   +3 more
openalex   +1 more source

Targeted 2‐Deoxy‐D‐Ribose Delivery by Biomimetic Nanoplatform Activates EGFR for Accelerated Heart Valve Endothelialization

Advanced Science, EarlyView.
This study develops a biomimetic nanoplatform using erythrocyte membrane‐camouflaged, CD144 antibody‐functionalized nanoparticles to deliver 2‐deoxy‐D‐ribose (2dDR). This system promotes heart valve endothelialization by enhancing endothelial cell migration and proliferation via EGFR activation, while improving hemocompatibility.
Xiang Qiu, Gaofeng Li, Wenyi Wan, Jinsheng Li, Ge Yan, Shijie Wang, Xiuqi Hu, Zongqi Han, Yazheng Shan, Ying Zhou, Nianguo Dong, Weihua Qiao   +11 more
wiley   +1 more source

Research progress on renal calculus associate with inborn error of metabolism [PDF]

, 2023
Yuanming Song, Changyong Zhao, Daobing Li   +2 more
openalex   +1 more source

A Trypsin‐Like Serine Protease ZmNAL1a Fine‐Tunes Maize Floral Transition and Flowering Time

Advanced Science, EarlyView.
This study identifies a trypsin‐like serine protease, ZmNAL1a, that moves from leaves to the shoot apical meristem. ZmNAL1a promotes the floral transition by degrading TOPLESS‐like corepressor REL2, which thereby enhances the expression of key flowering genes through elevating histone acetylation and relieving REL2–ZmEREBP147‐mediated transcriptional ...
Nan Li, Qiang Ning, Zhen Li, Qian Zhang, Peilu Zhu, Jimin Zhan, Yunfu Li, Zhen Li, Liang Dong, Qing Xiong, Jiahao Liao, Jie Liu, David Jackson, Munenori Kitagawa, Zuxin Zhang, Lei Liu   +15 more
wiley   +1 more source

Evaluation of the CRISPR/Cas9 system as genome editing platform for the Mucopolysaccharidosis IV A using a strategy for induction of higher homologous recombination frequency

Universitas Scientiarum
Mucopolysaccharidosis IVA (MPS IVA) is a lysosomal storage disease caused by mutations in the gene encoding for the hydrolase N-acetylgalactose-6-sulfate sulfatase (GALNS). GALNS deficiency leads to a progressive buildup of partially degraded chondroitin-
Diego Alejandro Suarez, Andrés Felipe Leal, Carlos Javier Alméciga Díaz   +2 more
doaj   +1 more source

Newborn screening using tandem mass spectrometry: A systematic review [PDF]

Objectives: To evaluate the evidence for the clinical effectiveness of neonatal screening for phenylketonuria (PKU) and medium-chain acyl-coA dehydrogenase (MCAD) deficiency using tandem mass spectrometry (tandem MS).
Beverley, C., Chilcott, J., Eastham, J., Paisley, S., Pandor, A.   +4 more
core  

Fluorinated Carnitine Derivatives as Tools to Visualise Carnitine Transport and Metabolism

Advanced Science, EarlyView.
Fluorinated carnitines, fluoromethyl carnitine (FMC) and [18F]fluoromethyl carnitine ([18F]FMC), are synthesised and established as powerful probes to interrogate carnitine biology. The multimodal detection facilitated by fluorine labelling, including 19F NMR, mass spectrometry, and positron emission tomography imaging, allowed for visualisation of ...
Richard S. Edwards, Ella‐May Hards, Sofia N. dos Santos, Hannah E. Greenwood, Madeleine E. George, Andrea Emanuelli, Muhammet Tanc, Thomas R. Eykyn, Timothy H. Witney   +8 more
wiley   +1 more source

Mapping the Non‐Canonical Splicing Variants: Decrypting the Hidden Genetic Architecture of Idiopathic Male Infertility

Advanced Science, EarlyView.
This study highlights the significance of non‐canonical splicing variants in male infertility, a factor often overlooked during the analysis of high‐throughput sequencing data. Incorporating the non‐canonical splicing variants prioritization in the genetic analysis pipeline will increase the genetic diagnosis of patients with male infertility ...
Kuokuo Li, Yuge Chen, Dongdong Tang, Yuying Sheng, Xu Han, Hao Geng, Na Zhang, Zongliu Duan, Guanxiong Wang, Yang Gao, Rui Guo, Rong Hua, Zhiming Ding, Chuan Xu, Qunshan Shen, Zhen Yu, Bing Song, Mingrong Lv, Yuping Xu, Huan Wu, Ji Wu, Yunxia Cao, Xiaojin He   +22 more
wiley   +1 more source

Plasma C24:0- and C26:0-lysophosphatidylcholines are reliable biomarkers for the diagnosis of peroxisomal β-oxidation disorders

Journal of Lipid Research
The gold-standard diagnostic test for peroxisomal disorders (PDs) is plasma concentration analysis of very long-chain fatty acids (VLCFAs). However, this method’s time-consuming nature and limitations in cases which present normal VLCFA levels ...
Blai Morales-Romero, José Manuel González de Aledo-Castillo, Cristina Fernández Sierra, Carmen Martínez Carreira, Carles Zaragoza Bonet, Rosa Fernández Bonifacio, Maria Antònia Caro Miró, Ana Argudo-Ramírez, Rosa María López Galera, Judit García-Villoria   +9 more
doaj   +1 more source

RNAi Regulator C3PO Promotes Arbovirus Infection in Insect Vectors

Advanced Science, EarlyView.
RNA interference (RNAi) is vital for eukaryotes to defend against virus infection. The C3PO complex takes part in RNAi but its role in regulating viral infection remains unclear. This work finds that insect C3PO facilitates arbovirus replication by degrading precursors of miRNAs, especially miR‐971‐3p.
Yan Xiao, Tianyu Guan, Qianfeng Xia, Chen Chen, Qian Wang, Lan Luo, Hong Lu, Feng Cui   +7 more
wiley   +1 more source