2020
Epigenetic profiling of Italian patients identified methylation sites associated with hereditary transthyretin amyloidosis
De Lillo A, Pathak GA, De Angelis F, Di Girolamo M, Luigetti M, Sabatelli M, Perfetto F, Frusconi S, Manfellotto D, Fuciarelli M, Polimanti R. Epigenetic profiling of Italian patients identified methylation sites associated with hereditary transthyretin amyloidosis. Clinical Epigenetics 2020, 12: 176. PMID: 33203445, PMCID: PMC7672937, DOI: 10.1186/s13148-020-00967-6.Peer-Reviewed Original ResearchConceptsEpigenome-wide association studiesMethylation sitesEpigenetic differencesSignificant epigenetic differencesProtein interaction networksSignificant methylation changesAmyloidogenic mutationsDisease-causing mutationsProtein interactorsEpigenetic regulationHigh phenotypic variabilityEpigenetic profilingMethylation changesInteraction networksGene regionBiological processesMolecular mechanismsAssociation studiesMolecular pathwaysCoding mutationsPhenotypic variabilityNovel insightsGenesFiber formationMutationsNon-Coding Mutations in Urothelial Bladder Cancer: Biological and Clinical Relevance and Potential Utility as Biomarkers
Yang A, Cross CN, Townsend JP. Non-Coding Mutations in Urothelial Bladder Cancer: Biological and Clinical Relevance and Potential Utility as Biomarkers. Bladder Cancer 2020, 6: 211-213. PMID: 32793790, PMCID: PMC7390591, DOI: 10.3233/blc-200278.Peer-Reviewed Original Research
2019
Trio Haploinsufficiency Causes Neurodevelopmental Disease-Associated Deficits
Katrancha SM, Shaw JE, Zhao AY, Myers SA, Cocco AR, Jeng AT, Zhu M, Pittenger C, Greer CA, Carr SA, Xiao X, Koleske AJ. Trio Haploinsufficiency Causes Neurodevelopmental Disease-Associated Deficits. Cell Reports 2019, 26: 2805-2817.e9. PMID: 30840899, PMCID: PMC6436967, DOI: 10.1016/j.celrep.2019.02.022.Peer-Reviewed Original ResearchConceptsHeterozygous coding mutationsDendritic spine densityHippocampus of miceNeurodevelopmental disordersLong-term potentiationDendritic spine defectsPostsynaptic deficitsSpine densityCortical synapsesDendritic arborizationExcitatory neuronsMotor coordinationHaploinsufficient miceKnockout miceTherapeutic interventionsBipolar disorderProtein kinase A (PKA) signalingNeuronal structuresSpine defectsIncreases anxietyMiceDisordersDeficitsCoding mutationsA Signaling
2017
Shared genetic predisposition in rheumatoid arthritis-interstitial lung disease and familial pulmonary fibrosis
Juge P, Borie R, Kannengiesser C, Gazal S, Revy P, Wemeau-Stervinou L, Debray M, Ottaviani S, Marchand-Adam S, Nathan N, Thabut G, Richez C, Nunes H, Callebaut I, Justet A, Leulliot N, Bonnefond A, Salgado D, Richette P, Desvignes J, Lioté H, Froguel P, Allanore Y, Sand O, Dromer C, Flipo R, Clément A, Béroud C, Sibilia J, Coustet B, Cottin V, Boissier M, Wallaert B, Schaeverbeke T, le Moal F, Frazier A, Ménard C, Soubrier M, Saidenberg N, Valeyre D, Amselem S, Boileau C, Crestani B, Dieudé P. Shared genetic predisposition in rheumatoid arthritis-interstitial lung disease and familial pulmonary fibrosis. European Respiratory Journal 2017, 49: 1602314. PMID: 28495692, DOI: 10.1183/13993003.02314-2016.Peer-Reviewed Original ResearchMeSH KeywordsAdultAgedArthritis, RheumatoidCase-Control StudiesDNA HelicasesEuropeExomeFemaleGenetic Association StudiesGenetic Predisposition to DiseaseHeterozygoteHumansLung Diseases, InterstitialMaleMiddle AgedMutationPhenotypePulmonary FibrosisRisk FactorsSequence Analysis, DNASoftwareTelomeraseConceptsRheumatoid arthritis-associated interstitial lung diseaseRA-ILD patientsFamilial pulmonary fibrosisWhole-exome sequencingPulmonary fibrosisLung diseaseRisk factorsPathogenesis of rheumatoid arthritis-associated interstitial lung diseaseRheumatoid arthritis-interstitial lung diseaseInterstitial lung diseasePattern of interstitial pneumoniaControls of European ancestryBurden testsHeterozygous mutationsInterstitial pneumoniaGenetic predispositionExome sequencingEnvironmental risk factorsPatientsCoding mutationsFibrosisEuropean ancestryDiseaseMutations
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