Francesco Malvestiti
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View article: Interplay among lipoprotein(a), hepatic and vascular damage in individuals with metabolic dysfunction
Interplay among lipoprotein(a), hepatic and vascular damage in individuals with metabolic dysfunction Open
The results of this study suggest that liver damage is more likely the cause of reduced plasma Lp(a) levels rather than a consequence. Assessing plasma Lp(a) levels and the extent of liver damage could improve the prediction of vascular da…
View article: Germline Variants Influence Chronic Liver Disease Progression through Distinct Pathways
Germline Variants Influence Chronic Liver Disease Progression through Distinct Pathways Open
Cirrhosis and hepatocellular carcinoma (HCC) are long-term complications of chronic liver disease (CLD). In this large multi-ancestry genome-wide association study of all-cause cirrhosis (35,481 cases, 2.36M controls) and HCC (6,680 cases,…
View article: Genome-wide interaction study with body mass index identifies <i>CYP7A1</i> and <i>GIPR</i> as genetic modulators of metabolic dysfunction-associated steatotic liver disease
Genome-wide interaction study with body mass index identifies <i>CYP7A1</i> and <i>GIPR</i> as genetic modulators of metabolic dysfunction-associated steatotic liver disease Open
Background/Aims: Metabolic dysfunction-associated steatotic liver disease (MASLD) may progress to liver inflammation, fibrosis, cirrhosis and hepatocellular carcinoma. So far, genome-wide association studies explain a small fraction of MAS…
View article: Diagnostic Uptake of Targeted Sequencing in Adults With Steatotic Liver Disease and a Suspected Genetic Contribution
Diagnostic Uptake of Targeted Sequencing in Adults With Steatotic Liver Disease and a Suspected Genetic Contribution Open
Background and Aims In patients with steatotic liver diseases (SLD), genetic factors may account for severe liver involvement despite mild or absence of triggering factors or a strong family history. Aim of this study was to examine the di…
View article: Publisher Correction: Partitioned polygenic risk scores identify distinct types of metabolic dysfunction-associated steatotic liver disease
Publisher Correction: Partitioned polygenic risk scores identify distinct types of metabolic dysfunction-associated steatotic liver disease Open
View article: Carriage of Rare APOB Variants Predisposes to Severe Steatotic Liver Disease and Hepatocellular Carcinoma
Carriage of Rare APOB Variants Predisposes to Severe Steatotic Liver Disease and Hepatocellular Carcinoma Open
View article: Partitioned polygenic risk scores identify distinct types of metabolic dysfunction-associated steatotic liver disease
Partitioned polygenic risk scores identify distinct types of metabolic dysfunction-associated steatotic liver disease Open
Metabolic dysfunction-associated steatotic liver disease (MASLD) is characterized by an excess of lipids, mainly triglycerides, in the liver and components of the metabolic syndrome, which can lead to cirrhosis and liver cancer. While ther…
View article: Stratified analyses refine association between TLR7 rare variants and severe COVID-19
Stratified analyses refine association between TLR7 rare variants and severe COVID-19 Open
Despite extensive global research into genetic predisposition for severe COVID-19, knowledge on the role of rare host genetic variants and their relation to other risk factors remains limited. Here, 52 genes with prior etiological evidence…
View article: Impact of clonal hematopoiesis of indeterminate potential on hepatocellular carcinoma in individuals with steatotic liver disease
Impact of clonal hematopoiesis of indeterminate potential on hepatocellular carcinoma in individuals with steatotic liver disease Open
Background and Aims: Metabolic dysfunction–associated steatotic liver disease (MASLD) is a global epidemic and is the most rapidly rising cause of HCC. Clonal hematopoiesis of indeterminate potential (CHIP) contributes to neoplastic and ca…
View article: Partitioned polygenic risk scores identify distinct types of metabolic dysfunction-associated steatotic liver disease
Partitioned polygenic risk scores identify distinct types of metabolic dysfunction-associated steatotic liver disease Open
View article: Author Correction: Interaction between estrogen receptor-α and PNPLA3 p.I148M variant drives fatty liver disease susceptibility in women
Author Correction: Interaction between estrogen receptor-α and PNPLA3 p.I148M variant drives fatty liver disease susceptibility in women Open
Correction to: Nature Medicinehttps://doi.org/10.1038/s41591-023-02553-8, published online 25 September 2023. In the version of the article initially published, in Table 1, the “Transcriptomic cohort” section inadvertently duplicated data …
View article: Corrigendum to “SIRT5 rs12216101 T>G variant is associated with liver damage and mitochondrial dysfunction in patients with non-alcoholic fatty liver disease” [J Hepatol 80 (2024) 10-19]
Corrigendum to “SIRT5 rs12216101 T>G variant is associated with liver damage and mitochondrial dysfunction in patients with non-alcoholic fatty liver disease” [J Hepatol 80 (2024) 10-19] Open
View article: IL32 downregulation lowers triglycerides and type I collagen in di-lineage human primary liver organoids
IL32 downregulation lowers triglycerides and type I collagen in di-lineage human primary liver organoids Open
View article: Predictors of controlled attenuation parameter in metabolic dysfunction
Predictors of controlled attenuation parameter in metabolic dysfunction Open
Background & Aims Hepatic fat content can be non‐invasively estimated by controlled attenuation parameter (CAP) during transient elastography. The aim of this study was to examine the determinants and predictors of CAP values in individual…
View article: Interaction between estrogen receptor-α and PNPLA3 p.I148M variant drives fatty liver disease susceptibility in women
Interaction between estrogen receptor-α and PNPLA3 p.I148M variant drives fatty liver disease susceptibility in women Open
View article: Liver Involvement in Patients with Rare MBOAT7 Variants and Intellectual Disability: A Case Report and Literature Review
Liver Involvement in Patients with Rare MBOAT7 Variants and Intellectual Disability: A Case Report and Literature Review Open
The membrane-bound O-acyltransferase domain-containing 7 (MBOAT7) protein is an acyltransferase catalyzing arachidonic acid incorporation into lysophosphatidylinositol. Patients with rare, biallelic loss-of-function variants of the MBOAT7 …
View article: Validation of a targeted gene panel sequencing for the diagnosis of hereditary chronic liver diseases
Validation of a targeted gene panel sequencing for the diagnosis of hereditary chronic liver diseases Open
Background: The cause of chronic liver diseases (CLD) remains undiagnosed in up to 30% of adult patients. Whole-Exome Sequencing (WES) can improve the diagnostic rate of genetic conditions, but it is not yet widely available, due to the co…
View article: Circulating Interlukin-32 and Altered Blood Pressure Control in Individuals with Metabolic Dysfunction
Circulating Interlukin-32 and Altered Blood Pressure Control in Individuals with Metabolic Dysfunction Open
Fatty liver disease is most frequently related to metabolic dysfunction (MAFLD) and associated comorbidities, heightening the risk of cardiovascular disease, and is associated with higher hepatic production of IL32, a cytokine linked with …
View article: Adverse effect of <i>PNPLA3</i> p.I148M genetic variant on kidney function in middle‐aged individuals with metabolic dysfunction
Adverse effect of <i>PNPLA3</i> p.I148M genetic variant on kidney function in middle‐aged individuals with metabolic dysfunction Open
Summary Background The PNPLA3 p.I148M variant is the main genetic determinant of nonalcoholic fatty liver disease, and PNPLA3 silencing is being evaluated to treat this liver condition. Data suggest that the p.I148M variant predisposes to …
View article: Clinical and genetic determinants of the fatty liver–coagulation balance interplay in individuals with metabolic dysfunction
Clinical and genetic determinants of the fatty liver–coagulation balance interplay in individuals with metabolic dysfunction Open
In individuals with metabolic alterations at risk of metabolic fatty liver disease, there is a tendency toward heightened blood coagulation (clotting), but the cause and the impact on the progression of liver disease remain unclear. Here w…
View article: Rare ATG7 genetic variants predispose patients to severe fatty liver disease
Rare ATG7 genetic variants predispose patients to severe fatty liver disease Open
View article: Trends and risk factors of <scp>SARS‐CoV</scp>‐2 infection in asymptomatic blood donors
Trends and risk factors of <span>SARS‐CoV</span>‐2 infection in asymptomatic blood donors Open
Background A large proportion of SARS‐CoV‐2‐infected individuals does not develop severe symptoms. Serological tests help in evaluating the spread of infection and disease immunization. The aim of this study was to prospectively examine th…
View article: Definition of Healthy Ranges for Alanine Aminotransferase Levels: A 2021 Update
Definition of Healthy Ranges for Alanine Aminotransferase Levels: A 2021 Update Open
The changing epidemiology of liver disease, and modifications in the recommended analytical methodology call for a re‐evaluation of the upper reference limits (URLs) of alanine aminotransferase (ALT) levels. Using the same approach consoli…
View article: Corrigendum to “Chromosome 3 cluster rs11385942 variant links complement activation with severe COVID-19” [J. Autoimmun. 117C (2020) 102595]
Corrigendum to “Chromosome 3 cluster rs11385942 variant links complement activation with severe COVID-19” [J. Autoimmun. 117C (2020) 102595] Open
View article: Genetic predisposition similarities between NASH and ASH: Identification of new therapeutic targets
Genetic predisposition similarities between NASH and ASH: Identification of new therapeutic targets Open
View article: Exome-Wide Association Study on Alanine Aminotransferase Identifies Sequence Variants in the GPAM and APOE Associated With Fatty Liver Disease
Exome-Wide Association Study on Alanine Aminotransferase Identifies Sequence Variants in the GPAM and APOE Associated With Fatty Liver Disease Open
View article: Chromosome 3 cluster rs11385942 variant links complement activation with severe COVID-19
Chromosome 3 cluster rs11385942 variant links complement activation with severe COVID-19 Open
View article: Rare <i>Atg7</i>&nbsp;Genetic Variants Predispose to Severe Fatty Liver Disease
Rare <i>Atg7</i> Genetic Variants Predispose to Severe Fatty Liver Disease Open
View article: Genetic insight into COVID‐19‐related liver injury
Genetic insight into COVID‐19‐related liver injury Open
Liver InternationalVolume 41, Issue 1 p. 227-229 LETTER TO THE EDITOR Genetic insight into COVID-19-related liver injury Cristiana Bianco, Cristiana Bianco Translational Medicine – Department of Transfusion Medicine and Hematology, Fondazi…