Results 141 to 150 of about 28,506 (225)

Antenatal diagnosis and maternal sirolimus treatment of polyhydramnios, megalencephaly, and symptomatic epilepsy (PMSE) syndrome

Pregnancy, Volume 2, Issue 3, May 2026.
Abstract Background Polyhydramnios, megalencephaly, and symptomatic epilepsy (PMSE) syndrome is a rare autosomal recessive mTORopathy caused by biallelic STE20‐related kinase adaptor alpha (STRADA) loss‐of‐function variants. Animal models demonstrate that in utero mechanistic target of rapamycin (mTOR) inhibition can prevent cortical dyslamination ...
Christian Macedonia, Vincent J. Carson, D. Holmes Morton, Karin J. Blakemore, Mark I. Evans, Peter B. Crino   +5 more
wiley   +1 more source

The Mechanism Underlying the Abnormal Expression of α‐Synuclein in the Cortical Lesions of Patients With FCD Type IIb and TSC

CNS Neuroscience &Therapeutics, Volume 32, Issue 4, April 2026.
The mTOR/GLT‐1 pathway abnormality induces α‐synucleinopathy, contributing to seizures in FCD lesions, which were rescued by treatment with the mTOR inhibitor Rapa or the GLT‐1 enhancer Cef. Intracerebroventricular α‐syn administration attenuated PTZ‐induced seizures in FCD models.
Li Zhang, Jian‐Ping Song, Jun Huang, Ping Liang, Hui Yang, Chun‐Qing Zhang, Kai‐Feng Shen   +6 more
wiley   +1 more source

A Review of Vagus Nerve Stimulation for Disease: Comprehensive Theory and Evidence for Mechanisms of Action

Comprehensive Physiology, Volume 16, Issue 2, April 2026.
Vagus nerve stimulation (VNS) effects span central and peripheral organ systems through diverse mechanistic pathways. This comprehensive review provides a unified synthesis of these mechanisms across neurological, cardiovascular, immunological, metabolic, and gastrointestinal domains, filling a critical gap and serving as a foundational resource for ...
Yifeng Bu, Alex Liang, Benjamin U. Hoffman, Dawn M. Schiehser, Oliver Case, Alan Simmons, Ruth Klaming, Andres Gottfried‐Blackmore, Ravinder K. Mittal, Christopher Puleo, Hubert Lim, Imanuel Lerman   +11 more
wiley   +1 more source

Hepatopancreatic Vitellogenin Regulation in Marsupenaeus japonicus: Transcriptome Based on Endogenous Variation in Vitellogenin Expression Levels

Arthropoda
In penaeids, the major yolk protein precursor vitellogenin is synthesized in both the hepatopancreas and the ovary. While ovarian vitellogenin expression is clearly regulated by hormones from the X-organ/sinus gland in the eyestalk, regulation in the ...
Azreen Syazana Nazaruddin, Marwa Said El-Desoky, Yoji Igarashi, Kazutoshi Yoshitake, Makoto Kakinuma, Naoaki Tsutsui   +5 more
doaj   +1 more source

Leveraging extracellular vesicle biology for novel tests and therapeutics for kidney fibrosis

Clinical and Translational Medicine, Volume 16, Issue 4, April 2026.
Extracellular vesicles (EVs) are bilipid membrane‐encased nanoparticles that play critical roles as cell‐to‐cell messengers and waste management mechanisms. EVs cargos can be leveraged as biomarkers to develop minimally invasive tests for kidney fibrosis and guide personalised mechanism‐driven care.
Chin‐Ya Sophie Chiang, Andrew J. Kassianos, Helen Grania Healy, Monica Suet Ying Ng   +3 more
wiley   +1 more source

TSC2 gene characterization and mechanism of ammonia nitrogen stress inhibiting growth through AMPK/mTOR pathway mediated by TSC2 in Megalobrama amblycephala

Aquaculture Reports
This study was performed to evaluate the role of TSC2 (tuberous sclerosis complex 2) in the regulation of growth inhibition of fish exposed to chronic ammonia nitrogen.
Xiangyang Yuan, Qian Wang, Mengyang Dai, Hengjie Wang, Xinyu Xiong, Liang Pan, Canli Wang   +6 more
doaj   +1 more source

Isolated absence epilepsy associated with a de novo FBXW7 missense variant in the F‐box domain

Epilepsia Open, Volume 11, Issue 2, Page 643-651, April 2026.
Abstract The FBXW7 gene encodes a substrate‐recognition component of the Skp1‐Cul1‐F‐box (SCF) E3 ubiquitin ligase complex, which targets key regulatory proteins for proteasomal degradation. Recently, loss‐of‐function FBXW7 variants have been associated with a novel neurodevelopmental disorder characterized by heterogeneous clinical features.
Anees Muhammad, Mohammad Sadegh Shams Nosrati, Alireza Dostmohammadi, Francesca Madia, Maria Margherita Mancardi, Stefania Fornarino, Luca Bosisio, Zahra Hoseini Tavassol, Mir Davood Omrani, Federico Zara, Marcello Scala   +10 more
wiley   +1 more source

Osteoarthritis: Epidemiology, Pathogenesis, and Treatment

MedComm, Volume 7, Issue 4, April 2026.
Osteoarthritis is a prevalent degenerative joint disease with a growing global burden. Its development involves complex interactions among epidemiological factors, pathological changes, molecular signaling, and epigenetic regulation. Understanding these mechanisms provides insights into disease progression and supports the development of therapeutic ...
Tianrui Chen, Wenlong Chen, Tianpeng Xu, Hong Wang, Yuheng Zhang, Li Wang, Sijie Zhu, Huaqiang Tao, Xing Yang   +8 more
wiley   +1 more source

Epilepsy: Molecular Pathogenesis and Emerging Therapies

MedComm, Volume 7, Issue 4, April 2026.
Progress has been made in the molecular pathogenesis of epilepsy, revealing multiple therapeutic targets. Recent advances in pharmacology, materials science, and surgical technique, coupled with progress in targeted therapy and disruptive epilepsy network technology, have led to the emergence of innovative strategies for epilepsy treatment.
Wanbin Huang, Jiabin Zong, Yu Zhang, Ming Li, Songqing Pan, Zheman Xiao   +5 more
wiley   +1 more source

Implementation of an Inherited Diseases Gene Panel to Accelerate Precision Medicine in the South African Public Healthcare System

Molecular Genetics &Genomic Medicine, Volume 14, Issue 4, April 2026.
We developed and implemented a 500‐gene panel for phenotype‐driven genetic testing of Mendelian disorders in South Africa's public healthcare system, achieving a 46% diagnostic yield. This platform supports scalable, cost‐effective rare disease diagnosis and lays the foundation for broader genetic services in resource‐limited settings.
Nadia Carstens, Maria Mudau, Fahmida Essop, Amanda Krause   +3 more
wiley   +1 more source