Results 111 to 120 of about 1,329,274 (301)

Autism and mild epilepsy associated with a de novo missense pathogenic variant in the GTPase effector domain of DNM1

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView., 2023
Abstract Dynamin 1 is a GTPase protein involved in synaptic vesicle fission, which facilitates the exocytosis of neurotransmitters necessary for normal signaling. Pathogenic variants in the DNM1 gene are associated with intractable epilepsy, often manifested as infantile spasms at onset, developmental delay, and a movement disorder, and are located in ...
Davide Mei, Elena Parrini, Claudia Bianchini, Maria Luisa Ricci, Renzo Guerrini   +4 more
wiley   +1 more source

Zinc Exposure Causes Disulfidptosis to Induce Miscarriage by Up‐Regulating GATA1/METTL1/SLC7A11 Axis

Advanced Science, EarlyView.
Zn exposure up‐regulates GATA1, promoting GATA1‐mediated METTL1 and SLC7A11 transcription. It also enhances METTL1‐mediated m7G modification on SLC7A11 mRNA, increasing SLC7A11 mRNA stability. Ultimately, Zn exposure up‐regulates SLC7A11 at both transcriptional and post‐transcriptional levels, causing disulfidptosis. Knockdown of murine Slc7a11, Gata1,
Wenxin Huang, Yi Sun, Yanxin Wang, Haijun Yan, Xiaoping Yue, Weidong Wu, Xueyu Chen, Jinfang Zhang, Yanbing Lin, Qiong Lei, Nan Ji, Shuaishuai Xing, Liqin Zeng, Qingzheng Kang, Depeng Zhao, Geng Guo, Huidong Zhang   +16 more
wiley   +1 more source

Phenotypic Diversity and Outcomes in Pediatric NMDA Receptor Encephalitis: A 15‐Year Retrospective Study from the Largest Children's Hospital in the United States

Advanced Science, EarlyView.
ABSTRACT Anti‐NMDAR encephalitis (NMDARE) is an autoantibody‐mediated disorder characterized by seizures, movement disorders, neurocognitive deficits, and psychosis, but the complete phenotypic heterogeneity, and outcomes are incompletely understood in children.
Alexander J. Sandweiss, Timothy Erickson, Yike Jiang, Varun Kannan, Jonathan M. Yarimi, Kristen S. Fisher, Nikita Shukla, Tim Lotze, Eyal Muscal, Kristy O. Murray   +9 more
wiley   +1 more source

The ITGB2‐COPS3‐SOX2 Axis and SOX2 Liquid‐Liquid Phase Separation: Dual Mechanisms Governing Osteosarcoma Stemness

Advanced Science, EarlyView.
Osteosarcoma stemness is driven by the ITGB2‐COPS3‐SOX2 signaling axis. This study reveals that nuclear COPS3 stabilizes SOX2, which in turn undergoes liquid‐liquid phase separation to promote stemness. Based on this mechanism, a novel COPS3 inhibitor, Z‐5891, was developed, effectively suppressing tumor growth and stemness in vivo, offering a ...
Lei Guo, Zhiqing Zhao, Wei Wang, Jianfang Niu, Bing Wang, Yunfei Lin, Wei Guo, Taiqiang Yan   +7 more
wiley   +1 more source

Cardiorenal interactions in patients with juvenile idiopathic arthritis

Zaporožskij Medicinskij Žurnal
As early as the first stages of rheumatic diseases in children, a number of pathological changes occur with the involvement of many organs and systems in the process.
L. F. Bohmat, N. S. Shevchenko, T. O. Holovko, V. V. Nikonova   +3 more
doaj   +1 more source

Promoting Adherence to Influenza Vaccination Recommendations in Pediatric Practice. [PDF]

, 2019
OBJECTIVES: In the United States, nonadherence to seasonal influenza vaccination guidelines for children and adolescents is common and results in unnecessary morbidity and mortality. We conducted a quality improvement project to improve vaccination rates
Cadilla, Adriana, Diaz, Maria Carmen, Franciosi, James P., Hossain, Jobayer, Werk, Lloyd N.   +4 more
core   +1 more source

Generation of CCR4/CD7 Bispecific CAR‐T Cells Resistant to Fratricide and Exhaustion

Advanced Science, EarlyView.
The applications of CAR T‐cell therapy in T‐cell malignancies face limitations such as fratricide, effector‐cell exhaustion, and antigen‐escape. Herein, we developed fratricide‐ and exhaustion‐resistant CAR‐T cells that targeted CCR4 and CD7 simultaneously, with optional EGFRt safety switch. Additionally, scRNA‐seq unveiled new molecular targets, which
Sile Li, Yuanxin Li, Asif Rashid, Hong Kee Tan, Shing Chan, Man Yan Hui, Wilson Yau Ki Chan, Kee See Lam, Yinping Liu, Wenwei Tu, Wing Leung   +10 more
wiley   +1 more source

Changes in the 2017 Pediatric Hypertension Clinical Guidelines. [PDF]

, 2018
The clinical practice guidelines on diagnosis and management of high blood pressure in children and adolescents have been periodically modified and updated since the original publication in 1977.1 Since the last pediatric blood pressure guideline was ...
Falkner, Bonita
core   +1 more source

First Generation Proteolysis Targeting Chimeras (PROTACs) for the Treatment of Progeria

Advanced Science, EarlyView.
We report the first PROTACs designed to degrade progerin, introducing a novel therapeutic approach for progeria. The best compound, UCM‐18142, significantly reduces progerin levels and improves key disease phenotypes in patient‐derived cells and in the LmnaG609G/G609G mouse model, paving the way for new treatment strategies targeting the root cause of ...
Jon Macicior‐Michelena, Marcelino Telechea, Daniel Fernández, Alba García‐Martín, Ángeles Canales, Silvia Ortega‐Gutiérrez   +5 more
wiley   +1 more source

The Role of Interpersonal Relationships in Adolescents' Suicidal Behavior: A Qualitative Analysis of Semi-Structured Interviews

Клиническая и специальная психология
This article presents the results of a qualitative analysis based on semi-structured interviews conducted with adolescents (n=13, aged 13–17), who were admitted to an inpatient psychiatric facility after attempted suicide.
N.A. Polskaya, D.K. Yakubovskaya, D.A. Sharova, A.Ya. Basova   +3 more
doaj   +1 more source