Results 71 to 80 of about 41,607 (263)

Hyperammonemia in a girl who inherited a likely pathogenic variant of the ornithine transcarbamylase gene from her asymptomatic father—A peculiar pattern of X‐linked recessive inheritance

Clinical Case Reports, 2022
A three‐year‐old Chinese girl presented with hyperammonemia was diagnosed biochemically and genetically (heterozygous for a novel likely pathogenic missense variant c.476T>A) as having ornithine transcarbamylase (OTC) deficiency, a rare X‐linked ...
Toby Chun Hei Chan, Hoi Ning Cheung, Jasmine Chow, Mei Tik Leung, Sammy Pak Lam Chen, Chi Chung Shek   +5 more
doaj   +1 more source

RNA Helicase DDX21 Controls CD4+ T Cell Proliferation and Promotes Inflammatory Bowel Disease via Translational Control

Advanced Science, EarlyView.
ABSTRACT Inflammatory bowel disease (IBD) is characterized by dysregulated T cell responses. RNA helicases, including DExD‐box helicase 21 (DDX21), are pivotal in RNA metabolism, but their role in T cell‐mediated pathology during IBD remains unclear. Here, we demonstrate that DDX21 expression in CD4+ T cells correlates with cell cycle and translation ...
Yujuan Zhang, Chen Kan, Xinhui Yang, Yajuan Hao, Xuemin Cai, Mei Yang, Qianqian Zhang, Zhengting Wang, Ning Jiang, Lei Wang, Hua‐Bing Li, Jing Zhou   +11 more
wiley   +1 more source

Late onset arginase deficiency presenting with encephalopathy and midbrain hyperintensity

Annals of Indian Academy of Neurology, 2016
Urea cycle disorders (UCD) are very rare metabolic disorders that present with encephalopathy and hyperammonemia. Of the UCDs, Arginase deficiency (ARD) is the rarest and presents in childhood with a progressive spastic diplegia or seizures.
Boby Varkey Maramattom, Rajat Raja, Anuroop Balagopal   +2 more
doaj   +1 more source

Nanocellulose Alleviates Intrahepatic Cholestasis of Pregnancy via Gut Microbiota‐Mediated Bile Acid Homeostasis

Advanced Science, EarlyView.
Nanocellulose, derived from microcrystalline cellulose (MCC) through sulfuric acid hydrolysis or mechanical grinding to produce CNC or CNF, was tested in a rat ICP model. Particularly, CNF improved gut microbiota composition, reduced secondary bile acid metabolism, and restored bile acid homeostasis through modulation of the gut–liver axis.
Muhua Yu, Hongjie Dai, Xiaocui Zhong, Qibin Li, Hui Yuan, Yang Yang, Daiyong Huang, Lei Zhang, Rui Ran, Tian He, Yuanzhi Huang, Silas Villas‐Boas, Sergey Tumanov, Richard D. Cannon, Boris Novakovic, Richard Saffery, Yuhao Zhang, Xiaojing Dong, Ting‐Li Han   +18 more
wiley   +1 more source

Neuropsychiatric manifestations in Late-Onset urea cycle disorder patients

, 2010
Inherited urea cycle disorders represent one of the most common groups of inborn errors of metabolism. Late-onset urea cycle disorders caused by partial enzyme deficiencies may present with unexpected clinical phenotypes. We report 9 patients followed up
Gómez-López, L, Fons, C, Arranz, J A, Artuch, R, Häberle, J, Briones, P, Murgui, E, Serrano, M, Jara, F, Vilaseca, M A, Campistol, J, Pérez-Dueñas, B, García-Cazorla, A, Pineda, M   +13 more
core   +1 more source

β‐Elemene Rescues Radiation‐Induced Enteritis by Orchestrating a Host‐Microbiome Circuit That Fuels Epigenetic DNA Repair

Advanced Science, EarlyView.
This study elucidates that β‐elemene promotes cellular uptake of L. gasseri‐derived lactate by enhancing the membrane translocation of MCT1 in a CD147‐dependent manner. Intracellular lactate, through the lactylation of RBBP4 at the K26 site, recruits EP300 to the promoter regions of downstream genes (POLD1/POLD3), catalyzing H3K27ac modification.
Jiancheng He, Jiapeng Bao, Shukang Deng, Weijie Zang, Haoming Yan, Zihao Zhao, Guangze Zhang, Ruiqing Liu, Junjie Chen, Yilin Hu, Wanjiang Xue   +10 more
wiley   +1 more source

Harnessing MDM2‐Mediated Targeted Degradation of Transcriptional and Epigenetic Machinery to Disrupt Oncogenic Addictions in Pediatric Sarcoma

Advanced Science, EarlyView.
MDM2 dependency in pediatric sarcomas is driven by a novel p53‐independent oncogenic cistrome alongside canonical p53 pathway suppression. This study introduces MDM2‐recruiting transcriptional and epigenetic machinery degraders (MDM2‐TEMADs) as a novel precision oncology modality.
Jiawei Zhou, Xian Guan, Nan Li, Ying Zhang, Long Xie, Xingze Huang, Zhipeng Zhu, Zhuolin Ren, Xiaoyan Yu, Hanjun Guo, Yuanfang Wu, Lin Ma, Suya Zheng, Jingyao Zhang, Jiyang Liu, Victor Kuanmin Lee, Wenhao Chen, H. Phillip Koeffler, Jinhu Wang, Xin Han, Ye Chen, Liang Xu   +21 more
wiley   +1 more source

Significance of amino acids determination in diagnosis and management of urea cycle disorders [PDF]

, 2015
Rad se bavi poremećajima ciklusa ureje, koji nastaju kao posljedica mutacije jednog od enzima potrebnih za eliminaciju amonijevih iona i sintezu arginina.
Radonjić, Aleksandra
core  

Blood ammonia and glutamine as predictors of hyperammonemic crises in patients with urea cycle disorder [PDF]

, 2015
PURPOSE: The aim of this study was to examine predictors of ammonia exposure and hyperammonemic crises in patients with urea cycle disorders. METHODS: The relationships between fasting ammonia, daily ammonia exposure, and hyperammonemic crises were ...
Mark S. Korson, Milikien, Douglas A, Cederbaum, Stephen, Scharschmidt, Bruce F, Miguel Marino, Nagamani, Sandesh C, Gerard Vockley, Summar, Marshall, Mokhtarani, Masoud, Vockley, Gerard, Douglas A. Milikien, Berquist, William, Rhead, William, Renata Gallagher, Wendy Smith, J. Lawrence Merritt, Dennis Bartholomew, Harding, Cary O, Smith, Wendy, Kronn, David, Le Mons, Cindy, George A. Diaz, Bartholomew, Dennis, William Berquist, Stephen Cederbaum, Gallagher, Renata, Susan A. Berry, Diaz, George A, Dion F. Coakley, Wong, Derek, Coakley, Dion F, Derek Wong, McCandless, Shawn E, Masoud Mokhtarani, James A. Bartley, Marshall Summar, Berry, Susan A, Nicola Longo, Brendan Lee, Bruce F. Scharschmidt, Lichter-Konecki, Uta, Vockley, Jerry, Shawn E. McCandless, William Rhead, Uta Lichter-Konecki, Feigenbaum, Annette, Roberto Zori, Annette Feigenbaum, Cary O. Harding, Marino, Miguel, David Kronn, Andreas Schulze, Longo, Nicola, Korson, Mark S, Lee, Brendan, Zori, Roberto, Sandesh C. Nagamani, Schulze, Andreas, Bartley, James A, Merritt, J Lawrence, Cindy Le Mons   +60 more
core   +1 more source

Orthogonal Ionic Liquid‐Based Extraction Strategy Enables Amyloid‐Specific Profiling of Aggregate Proteome

Advanced Science, EarlyView.
An orthogonal ionic‐liquid extraction (Orth‐iEA) enables selective isolation of amyloid fibrils. TMGBF4 disrupts hydrogen‐bonded β‐sheet networks to solubilize amyloid aggregates, whereas C12ImCl interacts with hydrophobic regions of non‐amyloid proteins.
Shiying Zheng, Ye Liu, Bowen Zhong, Huiying Chu, Zhou Gong, Baofeng Zhao, Mengchun Cheng, Zhen Liang, Yukui Zhang, Qun Zhao, Lihua Zhang   +10 more
wiley   +1 more source