Results 91 to 100 of about 3,184 (187)

A Case of Pyridoxine Dependent Epilepsy Presented with Status Epilepticus

Journal of Pediatric Emergency and Intensive Care Medicine, 2019
Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive encephalopathy due to mutations in the ALDH7A1 gene. Intractable seizures are the most frequent clinical form in the early infantile period.
Senem Ayça, Hamide Betül Gerik Çelebi, Sırrı Çam, Muzaffer Polat   +3 more
doaj   +1 more source

Mutation of the ALDH7A1 gene in a patient with pyridoxal phosphate-dependent neonatal epileptic encephalopathy: a clinical case

Эпилепсия и пароксизмальные состояния, 2019
The article presents a clinical case of severe infantile generalized idiopathic epilepsy with status-like seizures, muscular dystonia and developmental delay.
T. V. Kozhanova, S. S. Zhilina, T. I. Mescheryakova, E. G. Lukyanova, K. V. Osipova, S. O. Ayvazyan, A. G. Prityko   +6 more
doaj   +1 more source

Impact of the Interaction between 3′-UTR SNPs and microRNA on the Expression of Human Xenobiotic Metabolism Enzyme and Transporter Genes [PDF]

, 2012
Genetic variation in the expression of human XMETs leads to inter-individual variability in metabolism of therapeutic agents as well as differed susceptibility to various diseases.
David A Flockhart, Fan eYang, Lang eLi, Naga eChalasani, Rongrong eWei, Thomas J. Urban, Wanqing eLiu, Wanqing eLiu   +7 more
core   +2 more sources

The Intersection of m6A Methylation and Immune Response in PCOS: A Bioinformatics Perspective

Immunity, Inflammation and Disease, Volume 14, Issue 2, February 2026.
N6‐methyladenosine RNA methylation regulators are intricately linked with the development of polycystic ovary syndrome (PCOS) and may influence immune cell infiltration in affected individuals. This study enhances our understanding of the molecular interactions in PCOS and suggests potential biomarkers for diagnosis and targets for therapeutic ...
Wenting Xu, Lingli Shi, Aifang Lu, Lijuan Cui, Haiqing Qian, Jiahui Wang, Mengyu Tang, Lili Zhu, Lihong Wang   +8 more
wiley   +1 more source

Pyridoxine Responsiveness and PNPO Gene Mutations

Pediatric Neurology Briefs, 2014
Investigators at University Hospital, Zurich, Switzerland, and multiple centers in Europe and Canada, sequenced the pyridoxal 5-phosphate oxidase (PNPO) gene in 31 patients with pyridoxine-responsive seizures but normal biomarkers for antiquitin ...
J Gordon Millichap, John J Millichap
doaj   +1 more source

Proteome analysis of human amniotic mesenchymal stem cells (hA-MSCs) reveals impaired antioxidant ability, cytoskeleton and metabolic functionality in maternal obesity. [PDF]

, 2016
Maternal obesity increases the risk of obesity and/or obesity-related diseases in the offspring of animal models. The aim of this study was to identify metabolic dysfunctions that could represent an enhanced risk for human obesity or obesity-related ...
Capobianco, V, Caterino, M, Del Vecchio, L, Iaffaldano, L, Martinelli, P, Nardelli, C, Pastore, L, Pucci, P, Sacchetti, L., Sirico, A   +9 more
core   +1 more source

Treatment of pediatric epilepsy

Pediatric Investigation, Volume 10, Issue 1, Page 86-100, February 2026.
Anti‐seizure medications are the first‐line treatment for the vast majority of children with epilepsy, with the advantages of non‐invasive wide adaptability. Surgery is the main treatment for drug‐resistant epilepsy and lesion‐related epilepsy, which can cure some cases of epilepsy in children. A ketogenic diet is often an add‐on therapy.
Junxiao Li, Tinghong Liu, Chang Liu, Jie Deng, Shijie Wu, Suhui Kuang, Xiaotong Li, Zhirong Wei, Shuli Liang   +8 more
wiley   +1 more source

Intellectual Disability Associated With Pyridoxine-Responsive Epilepsies: The Need to Protect Cognitive Development

Frontiers in Psychiatry, 2019
Pyridoxine (vitamin B6)-responsive epilepsies are severe forms of epilepsy that manifest as seizures immediately after birth, sometimes in utero, sometimes months, or years after birth.
Bjørnar Hassel, Bjørnar Hassel, Ane Gretesdatter Rogne, Sigrun Hope   +3 more
doaj   +1 more source

Deep sequencing of small RNAs identifies canonical and non-canonical miRNA and endogenous siRNAs in mammalian somatic tissues [PDF]

, 2012
MicroRNAs (miRNAs) are small RNA molecules that regulate gene expression. They are characterized by specific maturation processes defined by canonical and non-canonical biogenic pathways.
Ambros, Babiarz, Babiarz, Bartel, Berezikov, Berezikov, Cheloufi, Chen, Chiang, Cifuentes, Denli, Ender, Flynt, Friedlander, Gregory, Griffiths-Jones, Han, Justin Stebbing, Kaneko, Karimi, Kuhn, Ladewig, Leandro Castellano, Lee, Leung, Okamura, Okamura, Piriyapongsa, Poethig, Ruby, Smalheiser, Tam, Valen, Watanabe, Westholm, Yang, Yang   +36 more
core   +1 more source

Tumor Cell‐Derived CXCL2 Potentiates Neutrophil‐Mediated Antitumor Immunity by Inhibiting Cholesterol Biosynthesis in Hepatocellular Carcinoma

Advanced Science, Volume 13, Issue 2, 9 January 2026.
This study identifies the unconventional role of CXCL2 in regulating neutrophil polarization and immune responses in HCC. Unlike the common view that CXCL2 acts mainly as an extracellular chemokine, intracellular CXCL2 can interact with YBX1 and prevent its nuclear translocation.
Xin Liu, Danli Yang, Qianqian Jiang, Meng Han, Zhao Zhou, Yukun Li, Yu Wu, Jingzhou Wang, Ting Zhang, Guohua Lou, Guochao Wei, Lin Wang, Fengmin Lu, Xiangmei Chen   +13 more
wiley   +1 more source