Search results for "Lamin-A"

showing 2 items of 2 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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Hutchinson Gilford Progeria Syndrome: A Therapeutic Approach via Adenoviral Delivery of CRISPR/cas Genome Editing System

2015

Hutchinson-Gilford Progeria Syndrome (HGPS) is a rare human genetic disease caused by mutations in the LMNA gene. LMNA codes for structural components of the nuclear lamina. Alterations of nuclear lamina lead to a very variable class of diseases known as laminopathies. In detail, HGPS manifests a severe premature ageing phenotype due to the accumulation of a dominant negative form of lamin-A called progerin. With current treatments, the life expectancy of HGPS patients does not exceed their second decade. Death is usually due to cardiovascular complications. Recently, a new technology for mammals in vivo gene editing has been developed: the clustered regularly interspaced short palindromic …

Geneticscongenital hereditary and neonatal diseases and abnormalitiesProgeriaintegumentary systemCas9Genetic enhancementnutritional and metabolic diseasesLamin-ABiologyProgerinmedicine.diseaseSettore MED/13 - EndocrinologiaLMNACRISPR/CasGenome editingSettore BIO/13 - Biologia Applicataembryonic structuresmedicineHGPSCRISPRLaminJournal of Genetic Syndromes & Gene Therapy
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