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Silvia Sookoian
National Scientific and Technical Research Council
142Publications
37H-index
4,657Citations
Publications 142
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Nonalcoholic steatohepatitis (NASH)—the severe histological form of nonalcoholic fatty liver disease (NAFLD)—is regarded as a major health problem worldwide (1,2). The disease can progress to liver cirrhosis and eventually to hepatocellular carcinoma (1,3). Treatment of NASH and NASH-fibrosis is thus increasingly being given priority in the clinical field.
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#1Silvia Sookoian (UBA: University of Buenos Aires)H-Index: 37
#2Carlos J. Pirola (UBA: University of Buenos Aires)H-Index: 41
Here, the authors review the remarkable genetic discoveries that have illuminated the biology of nonalcoholic fatty liver disease (NAFLD) and nonalcoholic steatohepatitis (NASH). The authors integrate genes associated with NAFLD and NASH into regulatory pathways to elucidate the disease pathogenesis. They review the evidence for molecular mediators of chronic liver damage, which suggests that convergent pathophenotypes, including inflammation and fibrosis, share common genetic modifiers. They fu...
1 CitationsSource
1 CitationsSource
#1Silvia Sookoian (UBA: University of Buenos Aires)H-Index: 37
#2Carlos J. Pirola (UBA: University of Buenos Aires)H-Index: 4
5 CitationsSource
#1Silvia Sookoian (UBA: University of Buenos Aires)H-Index: 37
#2Marco Arrese (UC: Pontifical Catholic University of Chile)H-Index: 36
Last.Carlos J. Pirola (UBA: University of Buenos Aires)H-Index: 41
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1 CitationsSource
#1Carlos J. Pirola (UBA: University of Buenos Aires)H-Index: 4
Last.Silvia Sookoian (UBA: University of Buenos Aires)H-Index: 37
view all 8 authors...
9 CitationsSource
Nonalcoholic fatty liver disease (NAFLD) is regarded as the most frequent cause of chronic liver damage (1,2). The natural history of the disease presents a complex scenario of potential progression into severe clinical outcomes, including nonalcoholic steatohepatitis (NASH), NASH-fibrosis, cirrhosis, and hepatocellular carcinoma (1,2). In addition, NAFLD is closely associated with comorbidities of the metabolic syndrome (MetS), including type 2 diabetes, obesity, arterial hypertension, and dysl...
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#1Silvia Sookoian (UBA: University of Buenos Aires)H-Index: 37
#2Diego Flichman (CONICET: National Scientific and Technical Research Council)H-Index: 2
Last.Carlos J. Pirola (UBA: University of Buenos Aires)H-Index: 41
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Current knowledge on the genetic basis of nonalcoholic fatty liver disease (NAFLD) suggests that variants contributing not only to the disease predisposition but histological severity as well are located in genes that regulate lipid metabolism. We explored the role of rs641738 C/T located in TMC4 (transmembrane channel-like 4) exon 1 (p.Gly17Glu) and 500 bases- downstream of MBOAT7 gene (TMC4/MBOAT7), in the genetic risk for developing NAFLD in a case-control study. Our sample included 634 indiv...
4 CitationsSource
#1Carlos J. Pirola (UBA: University of Buenos Aires)H-Index: 4
#2Silvia Sookoian (UBA: University of Buenos Aires)H-Index: 37
1 CitationsSource
#1Carlos J. Pirola (UBA: University of Buenos Aires)H-Index: 4
#2Diego Flichman (UBA: University of Buenos Aires)H-Index: 11
Last.Silvia Sookoian (UBA: University of Buenos Aires)H-Index: 37
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2 CitationsSource
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