FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2912115654> ?p ?o ?g. }

• W2912115654 endingPage "66" @default.
• W2912115654 startingPage "51" @default.
• W2912115654 abstract "Alpha‐1 antitrypsin deficiency (AATD) liver disease is characterized by marked heterogeneity in presentation and progression, despite a common underlying gene mutation, strongly suggesting the involvement of other genetic and/or epigenetic modifiers. Variation in clinical phenotype has added to the challenge of detection, diagnosis, and testing of new therapies in patients with AATD. We examined the contribution of DNA methylation (5‐methylcytosine [5mC]) to AATD liver disease heterogeneity because 5mC responds to environmental and genetic cues and its deregulation is a major driver of liver disease. Using liver biopsies from adults with early‐stage AATD and the ZZ genotype, genome‐wide 5mC patterns were interrogated. We compared DNA methylation among patients with early AATD, and among patients with normal liver, cirrhosis, and hepatocellular carcinoma derived from multiple etiologic exposures, and linked patient clinical/demographic features. Global analysis revealed significant genomic hypomethylation in AATD liver–impacting genes related to liver cancer, cell cycle, and fibrosis, as well as key regulatory molecules influencing growth, migration, and immune function. Further analysis indicated that 5mC changes are localized, with hypermethylation occurring within a background of genome‐wide 5mC loss and with patients with AATD manifesting distinct epigenetic landscapes despite their mutational homogeneity. By integrating clinical data with 5mC landscapes, we observed that CpGs differentially methylated among patients with AATD disease are linked to hallmark clinical features of AATD (e.g., hepatocyte degeneration and polymer accumulation) and further reveal links to well‐known sex‐specific effects of liver disease progression. Conclusion: Our data reveal molecular epigenetic signatures within this mutationally homogeneous group that point to ways to stratify patients for liver disease risk." @default.
• W2912115654 created "2019-02-21" @default.
• W2912115654 creator A5003360183 @default.
• W2912115654 creator A5004559144 @default.
• W2912115654 creator A5014722603 @default.
• W2912115654 creator A5018184772 @default.
• W2912115654 creator A5044025407 @default.
• W2912115654 creator A5057923691 @default.
• W2912115654 creator A5063378225 @default.
• W2912115654 creator A5075260092 @default.
• W2912115654 creator A5083557433 @default.
• W2912115654 creator A5089222012 @default.
• W2912115654 date "2019-03-20" @default.
• W2912115654 modified "2023-10-16" @default.
• W2912115654 title "Alpha‐1 Antitrypsin Deficiency Liver Disease, Mutational Homogeneity Modulated by Epigenetic Heterogeneity With Links to Obesity" @default.
• W2912115654 cites W1529159877 @default.
• W2912115654 cites W1776292783 @default.
• W2912115654 cites W1964727784 @default.
• W2912115654 cites W1967064280 @default.
• W2912115654 cites W1969809368 @default.
• W2912115654 cites W1974935476 @default.
• W2912115654 cites W1978889425 @default.
• W2912115654 cites W1979594866 @default.
• W2912115654 cites W1988454044 @default.
• W2912115654 cites W2000940387 @default.
• W2912115654 cites W2006417633 @default.
• W2912115654 cites W2006421980 @default.
• W2912115654 cites W2006831423 @default.
• W2912115654 cites W2018851752 @default.
• W2912115654 cites W2027140570 @default.
• W2912115654 cites W2055986128 @default.
• W2912115654 cites W2057778733 @default.
• W2912115654 cites W2076000587 @default.
• W2912115654 cites W2094898345 @default.
• W2912115654 cites W2099559023 @default.
• W2912115654 cites W2113728034 @default.
• W2912115654 cites W2167279371 @default.
• W2912115654 cites W2169385554 @default.
• W2912115654 cites W2233119733 @default.
• W2912115654 cites W2334275983 @default.
• W2912115654 cites W2411583672 @default.
• W2912115654 cites W2552756389 @default.
• W2912115654 cites W2568487823 @default.
• W2912115654 cites W2625559053 @default.
• W2912115654 cites W2764195238 @default.
• W2912115654 cites W2784490726 @default.
• W2912115654 cites W2789215077 @default.
• W2912115654 cites W2888207000 @default.
• W2912115654 cites W2888499439 @default.
• W2912115654 doi "https://doi.org/10.1002/hep.30526" @default.
• W2912115654 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/30681738" @default.
• W2912115654 hasPublicationYear "2019" @default.
• W2912115654 type Work @default.
• W2912115654 sameAs 2912115654 @default.
• W2912115654 citedByCount "15" @default.
• W2912115654 countsByYear W29121156542019 @default.
• W2912115654 countsByYear W29121156542020 @default.
• W2912115654 countsByYear W29121156542021 @default.
• W2912115654 countsByYear W29121156542022 @default.
• W2912115654 countsByYear W29121156542023 @default.
• W2912115654 crossrefType "journal-article" @default.
• W2912115654 hasAuthorship W2912115654A5003360183 @default.
• W2912115654 hasAuthorship W2912115654A5004559144 @default.
• W2912115654 hasAuthorship W2912115654A5014722603 @default.
• W2912115654 hasAuthorship W2912115654A5018184772 @default.
• W2912115654 hasAuthorship W2912115654A5044025407 @default.
• W2912115654 hasAuthorship W2912115654A5057923691 @default.
• W2912115654 hasAuthorship W2912115654A5063378225 @default.
• W2912115654 hasAuthorship W2912115654A5075260092 @default.
• W2912115654 hasAuthorship W2912115654A5083557433 @default.
• W2912115654 hasAuthorship W2912115654A5089222012 @default.
• W2912115654 hasConcept C104317684 @default.
• W2912115654 hasConcept C121608353 @default.
• W2912115654 hasConcept C126322002 @default.
• W2912115654 hasConcept C127716648 @default.
• W2912115654 hasConcept C135763542 @default.
• W2912115654 hasConcept C142724271 @default.
• W2912115654 hasConcept C150194340 @default.
• W2912115654 hasConcept C190727270 @default.
• W2912115654 hasConcept C203014093 @default.
• W2912115654 hasConcept C2776231280 @default.
• W2912115654 hasConcept C2777075537 @default.
• W2912115654 hasConcept C2777214474 @default.
• W2912115654 hasConcept C2779102576 @default.
• W2912115654 hasConcept C2779134260 @default.
• W2912115654 hasConcept C2780535462 @default.
• W2912115654 hasConcept C41091548 @default.
• W2912115654 hasConcept C502942594 @default.
• W2912115654 hasConcept C54355233 @default.
• W2912115654 hasConcept C55493867 @default.
• W2912115654 hasConcept C60644358 @default.
• W2912115654 hasConcept C64618202 @default.
• W2912115654 hasConcept C71924100 @default.
• W2912115654 hasConcept C86803240 @default.
• W2912115654 hasConceptScore W2912115654C104317684 @default.
• W2912115654 hasConceptScore W2912115654C121608353 @default.
• W2912115654 hasConceptScore W2912115654C126322002 @default.
• W2912115654 hasConceptScore W2912115654C127716648 @default.

• next