[This corrects the article DOI: 10.1371/journal.pone.0261331.].
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11168609 | PMC |
http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0305644 | PLOS |
CRISPR J
December 2024
The Steve and Cindy Rasmussen Institute for Genomic Medicine, Abigail Wexner Research Institute at Nationwide Children's Hospital, Columbus, Ohio, USA.
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder caused by mutations in either the or genes. Though TSC causes the formation of nonmalignant tumors throughout multiple organs, the most frequent causes of mortality and morbidity are due to neurological complications. In two-thirds of cases, TSC occurs sporadically and pathogenic variants are approximately three times more prevalent than pathogenic variants.
View Article and Find Full Text PDFMol Ther Methods Clin Dev
September 2024
Center for Regenerative Medicine "Stefano Ferrari", Department of Life Sciences, University of Modena and Reggio Emilia, 41125 Modena, Italy.
Lamellar ichthyosis (LI) is a chronic disease, mostly caused by mutations in the gene, marked by impaired skin barrier formation. No definitive therapies are available, and current treatments aim at symptomatic relief. LI mouse models often fail to faithfully replicate the clinical and histopathological features of human skin conditions.
View Article and Find Full Text PDFJ Appl Physiol (1985)
August 2024
Fralin Biomedical Research Institute, Center for Exercise Medicine Research at Virginia Tech Carilion, Roanoke, Virginia, United States.
Endurance exercise training improves exercise capacity as well as skeletal muscle and whole body metabolism, which are hallmarks of high quality-of-life and healthy aging. However, its mechanisms are not yet fully understood. Exercise-induced mitophagy has emerged as an important step in mitochondrial remodeling.
View Article and Find Full Text PDFStem Cell Res
August 2024
Institute for Genetics of Heart Diseases (IfGH), University Hospital Münster, Münster, Germany.
The heterozygous mutation c.155G > T in GNB2 clinically leads to sinus bradycardia and sinus node dysfunction. Here, patient-specific skin fibroblasts of the mutation carrier were used for Sendai virus reprogramming into human induced-pluripotent stem cells (hiPSC).
View Article and Find Full Text PDFEnter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!