Results 91 to 100 of about 259,561 (269)

Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach, Sandra Donkervoort, Carola Hedberg‐Oldfors, Giovanni Baranello, Dimah Saade, Precilla D'Souza, Ruchee Patel, Eva Michael, A. Reghan Foley, Diana Bharucha‐Goebel, S. Jin Haugland, Meghan McAnally, Omer Abdul Hamid, Katherine Chao, Ellen F. Macnamara, Alan H. Beggs, Anna Sarkozy, Juliane Mueller, Steven A. Moore, Richard S. Finkel, Cynthia J. Tifft, Francesco Muntoni, Anders Oldfors, Carsten G. Bönnemann   +23 more
wiley   +1 more source

Persistent Bilateral [18F]THK5351 and Migrating Unilateral [18F]FDG Uptake in Anti‐LGI1 Encephalitis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Anti–leucine‐rich glioma‐inactivated 1 encephalitis (LGI1‐E) can cause persistent cognitive deficits, but the mechanisms remain unclear. A 40‐year‐old woman with LGI1‐E presented with subacute cognitive deficits and showed mild left medial temporal lobe (MTL) swelling and fluid‐attenuated inversion recovery (FLAIR) hyperintensity on initial ...
Yusuke Akitomi, Kenichiro Taira, Masanori Kurihara, Kenji Ishibashi, Kenji Ishii, Fumio Suzuki, Aya Midori Tokumaru, Makoto Hara, Atsushi Iwata   +8 more
wiley   +1 more source

A dynamic transcriptional cell atlas of testes development after birth in Hu sheep

BMC Biology
Background Testes development is a fundamental process in sexual development and reproduction. The testes undergo dramatic structural changes during development, including the proliferation and differentiation of somatic cells such as Sertoli cells ...
Jie Su, Yanyan Yang, Daqing Wang, Hong Su, Feifei Zhao, Chuanqiang Zhang, Min Zhang, Xiunan Li, Tingyi He, Xihe Li, Ying Tian, Biao Song, Chao Chen, Yongli Song, Guifang Cao   +14 more
doaj   +1 more source

Unraveling 4‐Phenylbutyrate's Therapeutic Role in SLC6A1 Disorders: Pharmacochaperoning Over HDAC Inhibition

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Variants in SLC6A1, encoding the GABA transporter 1 (GAT‐1), cause epilepsy, autism spectrum disorder, and developmental delay via loss of GABA uptake, impaired trafficking, and ER retention. We previously found that 4‐Phenylbutyrate (PBA), an FDA‐approved drug, restores GABA uptake and reduces seizures in SLC6A1‐related disorders ...
Melissa B. DeLeeuw, Karishma Randhave, Ekta Anand, Ziang (Debbie) Song, Wangzhen Shen, Jing‐Qiong Kang   +5 more
wiley   +1 more source

The multivalent passive immune-protective vaccines of egg yolk immunoglobulin Y derived from live or inactivated Pseudomonas anguilliseptica against aquaculture pathogens (P. anguilliseptica and Aeromonas veronii) in goldfish (Carassius auratus)

Frontiers in Marine Science
BackgroundEgg yolk immunoglobulin Y (IgY) can be produced on a large scale, with simple and economical preparation and no drug residue, making it promising for application in prophylactic multivalent passive immunization vaccines for aquaculture ...
Pan Cui, Pan Cui, Jing Chen, Ziye Ma, Huihui Xiao, Huihui Xiao, Juan Lu, Juan Wang, Gaoxiao Xu, Gaoxiao Xu   +9 more
doaj   +1 more source

Uncovering G Protein‐Coupled Receptors: Novel Targets and Biomarkers for Predicting Glioma Prognosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Low‐grade gliomas (LGG) exhibit significant heterogeneity and recurrence risk. G protein‐coupled receptors (GPCR) contribute to glioma malignant progression, but their prognostic value remains unclear. This work attempts to formulate a GPCR‐based outcome‐predicting model for LGG. Methods Based on TCGA LGG data, the enrichment scores
Jun Yang, Dongxu Zhang, Dongyuan Liu, Da Lin, Hao Wang   +4 more
wiley   +1 more source

Combined effects of nanoplastics and 3-BHA at environmentally relevant concentrations significantly aggravated kidney injury via TGF-β/SMAD signaling pathway in mice

Ecotoxicology and Environmental Safety
The increasing presence of nanoplastics (NPs) and synthetic antioxidants like 3-tert -Butyl-4-hydroxyanisole (3-BHA) in the environment has attracted widespread attention about their combined toxicological effects on human health, particularly on renal ...
Guanghua Xiong, Huangqi Shi, Yaxuan Jiang, Min Lu, Jinghong Liu, Shangrong Zhang, Xiaoqing Wu, Hongcheng Wang, Hongbo Liu, Yihong Yang, Yong Liu   +10 more
doaj   +1 more source

Lung Development in the Mouse Embryo

Experimental Lung Research, 1991
(1991). Lung Development in the Mouse Embryo. Experimental Lung Research: Vol. 17, No. 2, pp. 111-130.
openaire   +2 more sources

Building a Framework for Sexual and Reproductive Health Care in the Rheumatology Context: Content and Approaches

Arthritis Care &Research, EarlyView.
People with systemic autoimmune and rheumatic diseases (SARDs) are at higher risk than the general population of experiencing adverse pregnancy and perinatal outcomes such as preeclampsia, intrauterine growth restriction, and maternal and/or fetal death.
Mehret Birru Talabi, Sonya Borrero
wiley   +1 more source

β‐Catenin/c‐Myc Axis Modulates Autophagy Response to Different Ammonia Concentrations

Advanced Biology, Volume 9, Issue 3, March 2025.
Ammonia, detoxified by the liver into urea and glutamine, impacts autophagy differently at varying levels. Low ammonia activates autophagy via c‐Myc and β‐catenin, while high levels suppress it. Using Huh7 cells and Spf‐ash mice, c‐Myc's role in cytoprotective autophagy is revealed, offering insights into hyperammonemia and potential therapeutic ...
S. Sergio, B. Spedicato, G. Corallo, A. Inguscio, M. Greco, D. Musarò, D. Vergara, A. F. Muro, G. De Sabbata, L. R. Soria, N. Brunetti Pierri, M. Maffia   +11 more
wiley   +1 more source