Results 71 to 80 of about 2,219 (171)

Decoding Dual Regulatory Layers: Integrating Differential Expression and Alternative Splicing Dynamics in the Evolution of Laryngeal Echolocation Across Chiropteran Lineages

Integrative Zoology, EarlyView.
We integrated short‐read and long‐read RNA‐seq data from cochlear tissues of echolocating and non‐echolocating bats to disentangle transcriptional and post‐transcriptional regulation. Echolocating bats showed neural‐function enrichment among differentially expressed genes, while alternatively spliced genes were linked to epigenetic regulation. Overlaps
Jianyu Wu, Daoyuan Hu, Min Chen, Xiuguang Mao   +3 more
wiley   +1 more source

Compound Heterozygous ALDH7A1 Mutation Causes the Hemi-Allelic Expression in a Patient with Pyridoxine-Dependent Epilepsy

Tokyo Women's Medical University Journal, 2019
Pyridoxine-dependent epilepsy (PDE) is an inherited disease with an autosomal recessive trait caused by deficiency of α-amino-adipic semialdehyde (AASA) dehydrogenase encoded by the ALDH7A1 gene.
Tomoe Yanagishita, Keiko Yamamoto-Shimojima, Takayoshi Koike, Hirosato Nasu, Yukitoshi Takahashi, Tomoyuki Akiyama, Satoru Nagata, Toshiyuki Yamamoto   +7 more
doaj   +1 more source

A Rare Presentation Characterized by Epileptic Spasms in ALDH7A1, Pyridox(am)ine-5′-Phosphate Oxidase, and PLPBP Deficiency

Frontiers in Genetics, 2022
Objective: To analyze the clinical feature, treatment, and prognosis of epileptic spasms (ES) in vitamin B6–dependent epilepsy, including patients with pyridoxine-dependent epilepsy (PDE) caused by ALDH7A1 mutation, pyridox(am)ine-5′-phosphate oxidase ...
Xianru Jiao, Pan Gong, Yue Niu, Yuehua Zhang, Zhixian Yang   +4 more
doaj   +1 more source

Excessive training does not induce mitochondrial dysfunction or impair insulin signalling within skeletal muscle

The Journal of Physiology, EarlyView.
Abstract figure legend Three weeks of overtraining in trained endurance athletes reduced exercise performance without impairing glucose tolerance. In skeletal muscle, overtraining was associated with increased expression of lipid metabolism‐related proteins, enhanced mitochondrial biogenesis and preserved insulin signalling, despite elevated oxidative ...
Geneviève J. DesOrmeaux, Henver S. Brunetta, Pierre‐Andre Barbeau, Alexandra M. Coates, Christopher Pignanelli, Fasih A. Rahman, Jamie F. Burr, Graham P. Holloway   +7 more
wiley   +1 more source

Maternal protein restriction programs the ageing kidney: Proteomic signatures of early‐life origin renal and metabolic dysfunction

The Journal of Physiology, EarlyView.
Abstract figure legend Maternal protein restriction (MPR) induced persistent renal histopathological alterations accompanied by elevated serum creatinine levels. Nephron‐segment proteomic analysis revealed region‐specific molecular dysregulation affecting Bowman's capsule (PARK7, oxidative stress sensor; MSN, cytoskeletal organization), the proximal ...
Marina Pereira Pires, Matheus Naia Fioretto, Marcel Rodrigues Ferreira, Isabelle Tenori Ribeiro, Luísa Annibal Barata, Flávia Alessandra Maciel, Lucas Sobrinho Lemos, Renato Mattos, Luiz Marcos Frediane Portela, Patrick Vieira de Souza, Luisa Correia Gomes, Gustavo Monezzi Cordeiro, Wellerson Rodrigo Scarano, Patrícia Aline Boer, Jose Antonio Rocha Gontijo, Luis Antonio Justulin   +15 more
wiley   +1 more source

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

A glycolysis-based three-gene signature predicts survival in patients with lung squamous cell carcinoma

BMC Cancer, 2021
Background Lung cancer is one of the most lethal and most prevalent malignant tumors worldwide, and lung squamous cell carcinoma (LUSC) is one of the major histological subtypes.
Guichuan Huang, Jing Zhang, Ling Gong, Yi Huang, Daishun Liu   +4 more
doaj   +1 more source

Vitamin‐Responsive Disorders: From Molecular Basis to Clinical Presentation and Therapy

Journal of Inherited Metabolic Disease, Volume 49, Issue 4, July 2026.
ABSTRACT Vitamin‐dependent cofactors are essential for numerous metabolic reactions, and defects affecting their uptake, conversion, utilisation, or regeneration constitute a heterogeneous group of inherited metabolic disorders (IMDs). Although dietary vitamin intake is sufficient to sustain coenzyme synthesis in healthy individuals, it is insufficient
Cécile Acquaviva, Yann Nadjar, Manuel Schiff, Christine Vianey‐Saban, Alain Fouilhoux, Jean‐François Benoist   +5 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

Transcriptomic Profiling of Diabetic Porcine Wound Healing Model Identifies Key Metabolic, Inflammatory, and Oxidative Stress Pathways

Wound Repair and Regeneration, Volume 34, Issue 4, July/August 2026.
ABSTRACT Diabetic foot ulcers remain a major clinical challenge as diabetes prevalence rises, emphasising the need for improved therapeutics and relevant preclinical models. Common rodent wound‐healing models poorly recapitulate human skin anatomy and repair.
Joshua T. McCune, Mariah G. Bezold, Jeffrey M. Davidson, C. Henrique Serezani, Rebecca S. Cook, Craig L. Duvall   +5 more
wiley   +1 more source