Magdaléna Neřoldová

Correction: Exome sequencing reveals IFT172 variants in patients with non-syndromic cholestatic liver disease

Magdaléna Neřoldová, Elżbieta Ciara, Janka Slatinská, Soňa Fraňková et autres

[This corrects the article DOI: 10.1371/journal.pone.0288907.].

The impact of polymorphisms PNPLA3 rs738409 and TM6SF2 rs58542926 of the donor and recipient respectively on long-term patient survival after liver transplantation

Irena Míková, M Jirsa, Eva Sticová, Pavel Trunečka et autres

Summary Introduction: The variants rs738409 c.444C>G (p.I148M) in patatin-like phospholipase domain-containing 3 (PNPLA3) and rs58542926 c.499G>A (p.E167K) in TM6SF2 (transmembrane 6 superfamily member 2) are significant genetic risk factors of development and progression of non-alcoholic fatty liver disease (NAFLD). In both variants, …

Molecular causes and mechanisms of hereditary cholestasis and statin-induced myopathy

Magdaléna Neřoldová

The discovery of the molecular basis of Rotor syndrome consisting in biallelic inactivating mutations in both SLCO1B1 and SLCO1B3 genes encoding hepatic transporters OATP1B1 and OATP1B3, together with the previously described association of the rs4149056 variant in OATP1B1 with statin-induced myopathy (SM), …

Exome sequencing reveals IFT172 variants in patients with non-syndromic cholestatic liver disease

Magdaléna Neřoldová, Elżbieta Ciara, Janka Slatinská, Soňa Fraňková et autres

BACKGROUND AND AIM: Gene defects contribute to the aetiology of intrahepatic cholestasis. We aimed to explore the outcome of whole-exome sequencing (WES) in a cohort of 51 patients with this diagnosis. PATIENTS AND METHODS: Both paediatric (n = 33) and adult (n …

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The PNPLA3 genotype is the main driver of weight gain after the hepatitis C cure

Veronika Pitova, Soňa Fraňková, Mikolas Holinka, Magdaléna Neřoldová et autres

Low Frequency of Cancer-Predisposition Gene Mutations in Liver Transplant Candidates with Hepatocellular Carcinoma

Klára Horáčková, Soňa Fraňková, Petra Zemánková, Petr Nehasil et autres

Hepatocellular carcinoma (HCC) mainly stems from liver cirrhosis and its genetic predisposition is believed to be rare. However, two recent studies describe pathogenic/likely pathogenic germline variants (PV) in cancer-predisposition genes (CPG). As the risk of de novo tumors might be increased in …

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PNPLA3 rs738409 G allele increases the risk of liver cirrhosis in SERPINA1 MZ heterogygotes

Soňa Fraňková, Zuzana Rábeková, Magdaléna Neřoldová, Ondřej Fabián et autres

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Alpha-1 Antitrypsin and Hepatocellular Carcinoma in Liver Cirrhosis: SERPINA1 MZ or MS Genotype Carriage Decreases the Risk

Zuzana Rábeková, Soňa Fraňková, M Jirsa, Magdaléna Neřoldová et autres

Heterozygotes for Z or S alleles of alpha-1-antrypsin (AAT) have low serum AAT levels. Our aim was to compare the risk of hepatocellular carcinoma (HCC) in patients with liver cirrhosis carrying the SERPINA1 MM, MZ and MS genotypes. The study groups consisted …

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Portal hypertension is the main driver of liver stiffness in advanced liver cirrhosis

Mariia Lunová, Soňa Fraňková, Halima Gottfriedová, Renáta Šenkeříková et autres

Liver stiffness (LS) is a novel non-invasive parameter widely used in clinical hepatology. LS correlates with liver fibrosis stage in non-cirrhotic patients. In cirrhotic patients it also shows good correlation with Hepatic Venous Pressure Gradient (HVPG). Our aim was to assess the …

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Liver stiffness measured by two-dimensional shear-wave elastography predicts hepatic vein pressure gradient at high values in liver transplant candidates with advanced liver cirrhosis

Soňa Fraňková, Mariia Lunová, Halima Gottfriedová, Renáta Šenkeříková et autres

Liver stiffness is a reliable non-invasive predictor of Hepatic Venous Pressure Gradient (HVPG) above 10 mm Hg. However, it failed to predict higher thresholds of HVPG. Our aim was to investigate whether liver stiffness and selected previously published non-invasive blood biomarkers could …

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Progressive familial intrahepatic cholestasis in adulthood: 60 years' follow-up

Libuše Husová, Eva Sticová, Víta Žampachová, Magdaléna Neřoldová et autres

ABCB4 disease mimicking morbus Wilson: A potential diagnostic pitfall

Eva Sticová, Magdaléna Neřoldová, Radana Kotalová, Iva Subhanová et autres

INTRODUCTION: Progressive familial intrahepatic cholestasis type 3 (PFIC3) is a rare autosomal recessive cholestatic liver disorder caused by genetic deficiency of ATP-binding cassette subfamily B member 4 (ABCB4), a hepatocanalicular floppase translocating phospholipids from the inner to the outer leaflet of the …

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