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Preclinical assessment of splicing modulation therapy for ABCA4 variant c.768G>T in Stargardt disease.
Commun Med (Lond)
January 2025
Department of Human Genetics, Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, The Netherlands.
Background: Stargardt disease type 1 (STGD1) is a progressive retinal disorder caused by bi-allelic variants in the ABCA4 gene. A recurrent variant at the exon-intron junction of exon 6, c.768G>T, causes a 35-nt elongation of exon 6 that leads to premature termination of protein synthesis.
View Article and Find Full Text PDFFlow cytometric measurement of CFTR-mediated chloride transport in human neutrophils.
J Leukoc Biol
January 2025
Center for Microbial Pathogenesis, The Abigail Wexner Research Institute at Nationwide Children's Hospital.
Immune cells express a variety of ion channels and transporters in the plasma membrane and intracellular organelles, responsible of the transference of charged ions across hydrophobic lipid membrane barriers. The correct regulation of ion transport ensures proper immune cell function, activation, proliferation, and cell death. Cystic fibrosis (CF) is a genetic disease in which the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) chloride channel gene is defective, consequently, the CFTR protein is dysfunctional, and the chloride efflux in CF cells is markedly impaired.
View Article and Find Full Text PDFErratum - Effect of Danggui Buxue decoction on hypoxia-induced injury of retinal Müller cells .
Eur J Histochem
January 2025
Traditional Chinese Medicine Studio, The First Affiliated Hospital of Xiamen University; Integrated Traditional Chinese and Western Medicine Center, School of Medicine, Xiamen University, Xiamen.
This corrects the article published in European Journal of Histochemistry 2024;68:4140 doi: 10.4081/ejh.2024.
View Article and Find Full Text PDFEffects of clear aligners treatment in growing patients: a systematic review.
Front Oral Health
January 2025
Department of Neurosciences, Reproductive Sciences and Oral Sciences, Section of Orthodontics and Temporomandibular Disorders, University of Naples Federico II, Naples, Italy.
Introduction: In recent years, the use of Clear aligners (CA) has been diffused among children and adolescents. This systematic review aimed to summarize the literature regarding the effects of CA therapy in growing patients, including dentoalveolar and skeletal effects, periodontal changes, and quality of life measurements.
Methods: An electronic search on four databases was performed until September 2023, and studies including patients <18 years, treated with CA were selected.
Correction: Pathologically altered articular cartilage attracts intense chondrocyte invasion into the extracellular matrix: in vitro pilot study.
Knee Surg Relat Res
January 2025
National Medical Research Radiological Center of the Ministry of Health of the Russian Federation, Koroleva st. 4, 249036, Obninsk, Russia.
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