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http://dx.doi.org/10.1002/mdc3.70325 | DOI Listing |
Clin Genet
September 2025
Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
LONP1 encodes a mitochondrial protease essential for protein quality control and metabolism. Variants in LONP1 are associated with a diverse and expanding spectrum of disorders, including Cerebral, Ocular, Dental, Auricular, and Skeletal anomalies syndrome (CODAS), congenital diaphragmatic hernia (CDH), and neurodevelopmental disorders (NDD), with some individuals exhibiting features of mitochondrial encephalopathy. We report 16 novel LONP1 variants identified in 16 individuals (11 with NDD, 5 with CDH), further expanding the clinical spectrum.
View Article and Find Full Text PDFSurg Radiol Anat
September 2025
Department of Anatomy, Faculty of Medicine, Istanbul University, Istanbul, Turkey.
Purpose: This study aims to evaluate the morphological features of the levator palpebrae superioris muscle (LPS) and the variations in the distribution of the oculomotor nerve in the muscle.
Methods: 100 bilateral orbits from 50 cadavers were included in our study. In our study, the medial, lateral, and middle length, width, and thickness of the LPS were measured from 3 different points and recorded.
Pediatr Res
September 2025
Department of Digestive & Nutrition, Fujian Children's Hospital (Fujian Branch of Shanghai Children's Medical Center), College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, Fuzhou, Fujian, China.
Background: Body fat distribution patterns impact adolescent health, yet research on dietary lignans' influence remains limited. This study investigated their association among U.S.
View Article and Find Full Text PDFJ Immunother Cancer
September 2025
CAS Key Laboratory of Molecular Imaging, Institute of Automation, Chinese Academy of Sciences, Beijing, China
Neoadjuvant immunochemotherapy (nICT) has demonstrated significant potential in improving pathological response rates and survival outcomes for patients with locally advanced esophageal squamous cell carcinoma (ESCC). However, substantial interindividual variability in therapeutic outcomes highlights the urgent need for more precise predictive tools to guide clinical decision-making. Traditional biomarkers remain limited in both predictive performance and clinical feasibility.
View Article and Find Full Text PDFMethods
September 2025
Shenzhen Institute of Advanced Technology, Chinese Academy of Sciences, Shenzhen, 518055, China. Electronic address:
Allosteric proteins play a central role in biological processes and systems. Identifying the biological impact of mutations on allosteric proteins and the phenotypes they influence during disease initiation and progression presents a significant challenge. In theory, computational methods have the potential to facilitate the interpretation of genetic variants in allosteric proteins on a large scale.
View Article and Find Full Text PDF