Global ETD Search
Search theses and dissertations gathered from participating repositories worldwide. Every result links back to the library that holds it. No account is needed.
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Showing 1 to 9 of 9 for “"PNPLA3"”.
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Proteasome-Mediated Degradation of PNPLA3
Pages 33-49 are misnumbered as pages 34-50, pages 50-75 are misnumbered as pages 52-77, and pages 76-133 are misnumbered as pages 75-132.
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PNPLA3 P.I148M VARIANT INCREASES LIPID DROPLETS NUMBER AND SIZE IN PATIENT-DERIVED LIVER ORGANOIDS
PNPLA3 rs738409 C>G p.I148M variant is the main genetic determinant of metabolic associated steatotic liver disease (MASLD). To this day, this association still lacks a molecular characterization, due to the lack of comprehensive human models. To overcome this gap in knowledge, we generated …
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INDUCED PLURIPOTENT STEM CELL DERIVED LIVER MODEL FOR THE STUDY OF PNPLA3-ASSOCIATED NON-ALCOHOLIC FATTY LIVER DISEASE
… phospholipase domain-containing protein 3 (PNPLA3) with NAFLD aggravation without underlying metabolic disease. However, despite over a decade of research, the function of PNPLA3 and its role in the pathogenesis of NAFLD remains largely obscure. The lack of clarity regarding the function and …
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Molecular genetics of patatin-like phospholipase domain-containing 3 and chronic liver disease
… patatin-like phospholipase domain-containing 3 (PNPLA3) gene associates with increased susceptibility to the entire spectrum of chronic liver disease, and in particular with non-alcoholic fatty liver disease. The variant results in an isoleucine to methionine substitution at position 148 (I148M) …
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Non-invasive diagnosis of non-alcoholic fatty liver disease.
… patatin-like phospholipase domain containing 3 (PNPLA3), transmembrane 6 superfamily 2 (TM6SF2) and fibroblast growth factor 21 (FGF21) variants as well as a panel of most abundant liver microRNAs. After univariate and multivariate analysis, we confirmed that GG genotype of PNPLA3 exerted a clear …
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Personalised Medicine for Non-Alcoholic Fatty Liver Disease
… NAFLD patients. GWAS analyses revealed that <i>PNPLA3 </i>rs738409 is a major genetic risk factor in both Scottish and South Indian populations. Candidate gene studies revealed variants associated with endothelin function and with GLP1 receptors had significant effects on NAFLD.<br/><br/>This …
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SARCOPENIA, LIVER AND CARDIOVASCULAR ALTERATIONS IN A MULTICENTRIC COHORT OF PATIENTS WITH MASLD: EVALUATION OF CLINICAL PRESENTATION AND GENETIC PREDISPOSITION
… a role in MASLD, with specific polymorphisms in PNPLA3, TM6SF2, MBOAT7, and GCKR promoting severe liver disease, while the HSD17B13 variant appears protective against MASLD. Despite this background, most studies evaluating the relationship between sarcopenia, MASLD, and CV disease are …
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Genobiography: The Beethoven Genome Project as a case study integrating genomics into historical biography
… the full range of progressive liver disease in *PNPLA3*, and compound heterozygous for two hereditary hemochromatosis variants in *HFE*. In addition, metagenomic analyses and targeted capture revealed that Beethoven was infected with hepatitis B virus during at least the months leading to his …
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GENOME-WIDE ASSOCIATION STUDY OF NON-INVASIVE ASSESSMENT OF LIVER FIBROSIS IN MASLD: EVIDENCE FROM AN ITALIAN POPULATION
… The GWAS confirmed the strong effects of PNPLA3 and TM6SF2 on MASLD progression and fibrosis. Novel associations were identified at the MRC1 and MAGEE2 loci for FIB-4, and at IFI27 and DIAPH2 for FNI, implicating immune regulation and cytoskeletal remodeling as additional pathways driving …