Results 131 to 140 of about 220,107 (299)

Usefulness of levels of 2-methylbutyrylglycine and 2-ethylhydracrylic acid in urine for diagnosing 2-methylbutyrylglycinuria

Orphanet Journal of Rare Diseases
Background The congenital disease 2-methylbutyrylglycinuria involves defective isoleucine metabolism and is currently diagnosed based on elevated levels of 2-methylbutyrylcarnitine/isovalerylcarnitine C5 in blood, followed by analysis of 2 ...
Hao Liu, Ming Xu, Min Chen, Yong Peng, Liang Ye, Yi-fan Yin, Jing-kun Miao   +6 more
doaj   +1 more source

Counting Conditions on Newborn Bloodspot Screening Panels in Australia and New Zealand

International Journal of Neonatal Screening
A greater number of screened conditions is often considered to equate to better screening, whereas it may be due to conditions being counted differently.
Natasha Heather, Ronda F. Greaves, Kaustuv Bhattacharya, Lawrence Greed, James Pitt, Carol Wai-Kwan Siu, Mark de Hora, Ricky Price, Enzo Ranieri, Tiffany Wotton, Dianne Webster   +10 more
doaj   +1 more source

DCAF13 Safeguards Hematopoietic Stem Cells via RRS1‐Regulated Ribosome Biogenesis

Advanced Science, EarlyView.
This study establishes DCAF13 as an essential regulator for hematopoietic stem cell (HSC) function. Its deletion in mice causes lethal pancytopenia and HSC depletion. Mechanistically, DCAF13 interacts with RRS1 and mediates its non‐degradative K27‐linked ubiquitination, thereby stabilizing RRS1 to maintain ribosome biogenesis and protein translation ...
Mengke Li, Yuxin Wu, Shuai Zhou, Peipei Tang, Jiaming Wei, Ling Liu, Zhenyi Wang, Deyang Shi, Shengnan Yuan, Qingyu Zhang, Shihui Wang, Qing Zhang, Huan Zhao, Rui Zhang, Yingying Wang, Shiwei Yang, Xiangli Chen, Xiaojing Shi, Guangzhi Liu, Yuwei Zhang, Jinming Li, Xu Dong Zhang, Rick F Thorne, Dongping Wei, Zumin Zhu, Song Chen   +25 more
wiley   +1 more source

A Central Somatic Transmission Mediates Proprioceptive Facilitation of Muscle Pain

Advanced Science, EarlyView.
Zhang et al. uncover a novel central mechanism for persistent muscle pain, in which TRPA1 sensitization in MeV proprioceptive neurons enhances somatic secretion. This, in turn, disinhibits descending pain control from neighboring noradrenergic locus coeruleus neurons via local GABAergic circuits, thereby promoting inflammatory muscle pain.
Xiaoyu Zhang, Jiale Yang, Xi Wu, Jie Li, Fujian Lu, Yiman Li, Xingyu Du, Rong Huang, Jamila Asgar, Jing Wang, Ke Ren, Feipeng Zhu, Changhe Wang, Yehua Gan, Feng Wei, Zhuan Zhou   +15 more
wiley   +1 more source

Endogenous “Time Bomb” – Mislocalized Phospholipase A2 as a Critical Mediator of Ultra‐Rapid Mortality in Sepsis and Acute Lung Injury

Advanced Science, EarlyView.
Phospholipase A2 (PLA2), a dormant enzyme, becomes lethal when activated—collapsing lungs in minutes. Our dual therapy (DOPS + varespladib) boosts survival from 0% to >90% in sepsis/ALI. A breakthrough for acute lung injury treatment. ABSTRACT This study reveals that phospholipase A2 (PLA2), normally stable and nontoxic, can be activated specifically ...
Jianyu Wang, Zhongxing Xu, Lin Wang, Xin Sui, Yuan Luo, Xiuli Zhao, Jun Yang, Yongan Wang   +7 more
wiley   +1 more source

Newborn Screening Test [PDF]

Journal of Midwifery & Women's Health, 2016
openaire   +2 more sources

Atrophic Skeletal Muscle‐Derived Extracellular Vesicles Transfer miR‐125a‐5p to Inhibit Bone Formation in Osteoporosis during Aging

Advanced Science, EarlyView.
A muscle‐bone endocrine pathway in aging is revealed in which extracellular vesicles released from atrophic skeletal muscle (Aged‐SKM‐EVs) inhibit bone formation. These EVs deliver miR‐125a‐5p to osteoblasts, thereby suppressing the SIRT7‐Sp7 signaling axis and osteogenic differentiation.
Xiaoyan Shao, Pan Zhang, Zhidan Fan, Jiaquan Lin, Xiang Chen, Na Liu, Wang Gong, Yi He, Yining Zhou, Tianshu Shi, Yong Shi, Yuze Ma, Wentian Gao, Haosheng Wang, Depeng Fang, Chengzhi Wang, Wenshu Wu, Wenjin Yan, Jianghui Qin, Dongyang Chen, Haiguo Yu, Qing Jiang, Baosheng Guo   +22 more
wiley   +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  

Activated Platelet–Released Heat Shock Protein 90α Triggers Autophagy‐Dependent Neutrophil Extracellular Trap Formation and Amplifies Sepsis

Advanced Science, EarlyView.
HSP90α is significantly upregulated in platelets from sepsis patients, with its origin from megakaryocyte‐derived trafficking. Furthermore, activated platelets secrete HSP90α into the extracellular space in both free and exosome‐associated forms. Finally, extracellular HSP90α directly engages TLR4 on neutrophils to induce autophagy, leading to NET ...
Chengbo Wang, Maodong Leng, Chenchen Sun, Jingyu Cao, Linfei Li, Yangyang Jia, Yongshuai Han, Yuchun Liu, Yaodong Zhang, Chenglong Zhang, Yingli Men, Ningyuan Liu, Yibing Cheng, Yixia Zhang, Ya Li, Zhenlong Li, Lidan Cui, Xiangzhan Zhu   +17 more
wiley   +1 more source

A Nanoparticle‐Integrated Complete Manufacturing Pipeline of Chemically Engineered Exosomes

Advanced Science, EarlyView.
We report a novel manufacture technology of chemically engineered exosomes. The four steps of manufacturing, i.e., biogenesis, loading, isolation, and storage, are integrated by the use of a nanoparticle. The manufacture technology incorporates three innovative components, i.e., a new nano‐bio effect, a new composite nanoparticle, and a new isolation ...
Xiaowei Wen, Zixing Xu, Zerun Hao, Yanming Chen, Kai Xie, Haofan Yin, Xueying Wang, Jie Min, Sihan Sun, Baiding Chen, Chengxiu Ling, Mingming Xu, Yizhao Chen, Gang Ruan   +13 more
wiley   +1 more source