Search results for "Mi-2 Nucleosome Remodeling and Deacetylase Complex"

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Systematic retrospective study of 64 patients with anti-Mi2 dermatomyositis: A classic skin rash with a necrotizing myositis and high risk of maligna…

2020

AdultMalemedicine.medical_specialtyRisk of malignancyMEDLINEDermatologyRisk AssessmentDermatomyositisNecrosisRisk FactorsNeoplasmsmedicineHumansMuscle SkeletalAgedAutoantibodiesRetrospective StudiesSkinbusiness.industryIncidenceNecrotizing myositisRetrospective cohort studyExanthemaMiddle AgedDermatomyositisPrognosismedicine.diseaseDermatologyRashFemalemedicine.symptombusinessMi-2 Nucleosome Remodeling and Deacetylase ComplexJournal of the American Academy of Dermatology
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Epigenetic involvement in Hutchinson-Gilford progeria syndrome: a mini-review.

2013

Hutchinson-Gilford progeria syndrome (HGPS) is a rare human genetic disease that leads to a severe premature ageing phenotype, caused by mutations in the <i>LMNA</i> gene. The <i>LMNA</i> gene codes for lamin-A and lamin-C proteins, which are structural components of the nuclear lamina. HGPS is usually caused by a de novo <i>C1824T</i> mutation that leads to the accumulation of a dominant negative form of lamin-A called progerin. Progerin also accumulates physiologically in normal ageing cells as a rare splicing form of lamin-A transcripts. From this perspective, HGPS cells seem to be good candidates for the study of the physiological mechanisms of ageing…

congenital hereditary and neonatal diseases and abnormalitiesAgingEuchromatinSettore BIO/11 - Biologia MolecolarecernaBiologySettore MED/13 - EndocrinologiaEpigenesis GeneticLMNAHistonesAdenosine TriphosphateProgeriaHGPS Progeria; epigenetics; chromatin; cernamedicineHumansEpigeneticsProtein PrecursorsChildEpigenesisGeneticsCell NucleusProgeriaintegumentary systemnutritional and metabolic diseasesNuclear ProteinsDNA Methylationmedicine.diseaseProgerinChromatin Assembly and DisassemblyLamin Type AChromatinCell biologySettore BIO/18 - GeneticaMicroRNAsSettore MED/03 - Genetica MedicaMutationHGPS ProgeriachromatinNuclear laminaGeriatrics and GerontologyepigeneticMi-2 Nucleosome Remodeling and Deacetylase ComplexGerontology
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