Identification of Disease-Causing Mutations by Functional Complementation of Patient-Derived Fibroblast Cell Lines.
Sign Up to like & getrecommendations! Published in 2017 at "Methods in molecular biology"
DOI: 10.1007/978-1-4939-6824-4_24
Abstract: Diagnosis of mitochondrial disorders is still hampered by their phenotypic and genotypic heterogeneity. In many cases, exome sequencing, the state-of-the-art method for genetically diagnosing mitochondrial disease patients, does not allow direct identification of the disease-associated… read more here.
Keywords: disease causing; cell lines; disease; functional complementation ... See more keywords
Significance and Functional Similarity for Identification of Disease Genes
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DOI: 10.1109/tcbb.2016.2598163
Abstract: One of the most significant research issues in functional genomics is insilico identification of disease related genes. In this regard, the paper presents a new gene selection algorithm, termed as SiFS, for identification of disease… read more here.
Keywords: similarity; functional similarity; identification disease; disease genes ... See more keywords
Identification of disease-stage therapeutic responses of mesenchymal stromal cells retrieved from murine osteoarthritic joints
Sign Up to like & getrecommendations! Published in 2025 at "Frontiers in Cell and Developmental Biology"
DOI: 10.3389/fcell.2025.1521437
Abstract: Objective Osteoarthritis (OA) is a widespread and debilitating joint disease characterized by synovial inflammation, cartilage degeneration, and chronic joint pain. Mesenchymal stromal cells (MSCs) have shown therapeutic efficacy for many diseases with a strong inflammatory… read more here.
Keywords: disease; mesenchymal stromal; stromal cells; identification disease ... See more keywords