Gene expression profiling of fibroblasts in a family with LMNA-related cardiomyopathy reveals molecular pathways implicated in disease pathogenesis

• Published in: BMC medical genetics Vol. 21; no. 1; pp. 1 - 152
• Main Authors: Widyastuti, Halida P, Norden-Krichmar, Trina M, Grosberg, Anna, Zaragoza, Michael V
• Format: Journal Article
• Language: English
• Published: London BioMed Central Ltd 22.07.2020; BioMed Central; BMC
• Subjects: Aging; Alleles; C protein; Cardiomyocytes; Cardiomyopathy; Cell cycle; Cellular signal transduction; Conduction; Coronary artery disease; Deoxyribonucleic acid; Dilated cardiomyopathy; Disease; DNA; Fibroblasts; Gene expression; Genes; Genetic research; Genomes; Genomics; Haploinsufficiency; Heart diseases; Homeostasis; Hypotheses; IGFBP5 gene; Insulin; Insulin-like growth factor-binding protein 5; Lamin; Laminopathies; Lamins; LMNA gene; MAP kinase; Membrane proteins; Mesoderm; Molecular modelling; Muscular dystrophy; Mutants; Mutation; Myocardial diseases; Physiological aspects; Progeria; Protein binding; Proteins; Quality; Ribonucleic acid; RNA; RNA sequencing; Signal transduction; Software; Stem cells

Intermediate filament proteins that construct the nuclear lamina of a cell include the Lamin A/C proteins encoded by the LMNA gene, and are implicated in fundamental processes such as nuclear structure, gene expression, and signal transduction. LMNA mutations predominantly affect mesoderm-derived ce...