Search results for "LMNA"

showing 2 items of 12 documents

A ceRNA analysis on LMNA gene focusing on the Hutchinson-Gilford progeria syndrome

2013

Background: Hutchinson-Gilford progeria syndrome is a rare dominant human disease of genetic origin. The average life expectancy is about 20 years, patients’ life quality is still very poor and no efficient therapy has yet been developed. It is caused by mutation of the LMNA gene, which results in accumulation in the nuclear membrane of a particular splicing form of Lamin-A called progerin. The mechanism by which progerin perturbs cellular homeostasis and leads to the symptoms is still under debate. Micro-RNAs are able to negatively regulate transcription by coupling with the 3’ UnTranslated Region of messenger RNAs. Several Micro-RNAs recognize the same 3’ UnTranslated Region and each Micr…

congenital hereditary and neonatal diseases and abnormalitiesCandidate geneCeRNA Hutchinson-Gilford Progeria LMNA Lamin-A 3’ UTR MiRNALMNACellular homeostasisHealth InformaticsLamin-ABiologySettore MED/13 - EndocrinologiaLMNAProgeriaCeRNAmedicineHutchinson-GilfordGeneticsProgeriaintegumentary systemCompeting endogenous RNAThree prime untranslated regionResearchnutritional and metabolic diseasesmedicine.diseaseProgerinSettore BIO/18 - GeneticaRNA splicing3’ UTRMiRNAJournal of Clinical Bioinformatics
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Sp1 transcription factor interaction with accumulated prelamin a impairs adipose lineage differentiation in human mesenchymal stem cells: essential r…

2012

Abstract Lamin A (LMNA)-linked lipodystrophies may be either genetic (associated with LMNA mutations) or acquired (associated with the use of human immunodeficiency virus protease inhibitors [PIs]), and in both cases they share clinical features such as anomalous distribution of body fat or generalized loss of adipose tissue, metabolic alterations, and early cardiovascular complications. Both LMNA-linked lipodystrophies are characterized by the accumulation of the lamin A precursor prelamin A. The pathological mechanism by which prelamin A accumulation induces the lipodystrophy associated phenotypes remains unclear. Since the affected tissues in these disorders are of mesenchymal origin, we…

congenital hereditary and neonatal diseases and abnormalitiesLipodystrophySp1 Transcription FactorCellular differentiationAdipose tissueBiologyLMNAHumansProtein PrecursorsTranscription factorOriginal Articles and ReviewsAdipogenesisintegumentary systemSecretory VesiclesMesenchymal stem cellnutritional and metabolic diseasesNuclear ProteinsCell DifferentiationMesenchymal Stem CellsCell BiologyGeneral MedicineLamin Type ALipid MetabolismCell biologyExtracellular MatrixBiochemistryAdipose TissueGene Expression RegulationAdipogenesisDifferentiationMutationMesenchymal stem cellsTranscription factorStem cellExperimental modelsLaminDevelopmental BiologyStem cells translational medicine
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