List of works - Milan Jirsa

1H MR spectroscopy as a diagnostic tool for cerebral creatine deficiency

scientific article published on 26 August 2008

5-aminolaevulinic acid-induced fluorescence cystoscopy during transurethral resection reduces the risk of recurrence in stage Ta/T1 bladder cancer.

scientific article

ABCB4 mutations underlie hormonal cholestasis but not pediatric idiopathic gallstones.

scientific article

ATP8B1 gene expression is driven by a housekeeping-like promoter independent of bile acids and farnesoid X receptor

scientific article

Alagille Syndrome Mimicking Biliary Atresia in Early Infancy

scientific article published on 30 November 2015

CYP7A1 promoter polymorphism -203A>C affects bile salt synthesis rate in patients after ileal resection

scientific article published on 26 August 2008

Carcinoembryonic antigen-related cell adhesion molecule 1 is the 85-kilodalton pronase-resistant biliary glycoprotein in the cholesterol crystallization promoting low density protein-lipid complex.

scientific article published in December 2001

Chemically different non-thermal plasmas target distinct cell death pathways.

scientific article published on 4 April 2017

Complete OATP1B1 and OATP1B3 deficiency causes human Rotor syndrome by interrupting conjugated bilirubin reuptake into the liver

scientific article

Cytotoxic bilirubin metabolites overlooked so far

scientific article published on 08 May 2017

Disruption of OTC promoter-enhancer interaction in a patient with symptoms of ornithine carbamoyltransferase deficiency.

scientific article

Do common genetic variants in endotoxin signaling pathway contribute to predisposition to alcoholic liver cirrhosis?

Dual hereditary jaundice: simultaneous occurrence of mutations causing Gilbert's and Dubin-Johnson syndrome.

scientific article published in July 2005

Effect of acute hyperglycaemia on selected plasma and urinary cytokine antagonists in Type 1 diabetes mellitus

scientific article published on 5 April 2003

Fat mass and obesity-associated (fto) gene and alcohol intake

scientific article published on 17 April 2012

Genetic background of cholesterol gallstone disease

scientific article

Genetic variation in TNFA predicts protection from severe bacterial infections in patients with end-stage liver disease awaiting liver transplantation.

scientific article

Gilbert syndrome and ischemic heart disease: a protective effect of elevated bilirubin levels

scientific article

Glucocerebrosidase gene has an alternative upstream promoter, which has features and expression characteristic of housekeeping genes

scientific article published on 20 January 2011

HGSNAT has a TATA-less promoter with multiple starts of transcription.

scientific article published on 21 July 2016

Hepatic Tumor Cell Morphology Plasticity under Physical Constraints in 3D Cultures Driven by YAP-mTOR Axis

scientific article published on 28 November 2020

Hepcidin knockout mice spontaneously develop chronic pancreatitis owing to cytoplasmic iron overload in acinar cells.

scientific article published on 14 October 2016

Hereditary haemochromatosis caused by homozygousHJVmutation evolved through paternal disomy

scientific article published on 12 February 2014

Highly sensitive method for quantitative determination of bilirubin in biological fluids and tissues.

scientific article published on 18 March 2008

Immunoaffinity isolation of CEACAM1 on hydrazide-derivatized cellulose with immobilized monoclonal anti-CEA antibody

scientific article

Incomplete distal renal tubular acidosis coinherited with a mutation in the band 3 (AE1) gene

scientific article published on 01 September 1997

Indel in the FIC1/ATP8B1 gene?a novel rare type of mutation associated with benign recurrent intrahepatic cholestasis

article

Influence of Plasma Exchange on Serum Levels of Cytokines and Adhesion Molecules in ANCA-Positive Renal Vasculitis ⬇️

scientific article published on January 1, 1998

Intestinal colonization leading to fecal urobilinoid excretion may play a role in the pathogenesis of neonatal jaundice

scholarly article by Libor Vitek et al published 1 March 2000 in Journal of Pediatric Gastroenterology and Nutrition

LONG TERM TREATMENT OF IgA NEPHROPATHY WITH CYCLOSPORINE A

scientific article published on 01 January 2000

Linkage between A(TA)7TAA and -3279T>G mutations in UGT1A1 is not essential for pathogenesis of Gilbert syndrome

scientific article published on 01 December 2006

Long-term treatment of IgA nephropathy with cyclosporin A-a preliminary report

scientific article published on 01 October 1997

Modulation of collective cell behaviour by geometrical constraints.

scientific article published on 14 October 2016

N-acetyl cysteine averted liver transplantation in a patient with liver failure caused by erythropoietic protoporphyria

scientific article published in March 2009

NKD1 marks intestinal and liver tumors linked to aberrant Wnt signaling.

scientific article published on 14 November 2014

Nasobiliary drainage in an episode of intrahepatic cholestasis in a child with mild ABCB11 disease

scientific article published on 01 July 2012

New insights in bilirubin metabolism and their clinical implications

scientific article

Novel ABCB11 mutations in a Thai infant with progressive familial intrahepatic cholestasis

scientific article published on September 2009

Ornithine carbamoyltransferase deficiency: molecular characterization of 29 families.

scientific article published on 7 February 2013

Prevalence and risk factors of steatosis after liver transplantation and patient outcomes.

scientific article published on 5 April 2016

Radionuclide cholescintigraphy in genetically confirmed Rotor syndrome

scientific article published on 01 October 2015

Rare variants in known and novel candidate genes predisposing to statin-associated myopathy.

scientific article published on 14 June 2016

Relation between hepatic expression of ATP-binding cassette transporters G5 and G8 and biliary cholesterol secretion in mice

scientific article published in June 2003

Relevance of low viral load in haemodialysed patients with chronic hepatitis C virus infection

scientific article published on May 2015

Revised King's College score for liver transplantation in adult patients with Wilson's disease

scientific article published on 01 January 2007

Role of biliary proteins and non-protein factors in kinetics of cholesterol crystallisation and gallstone growth.

scientific article

Rotor-type hyperbilirubinaemia has no defect in the canalicular bilirubin export pump

scientific article published on 01 May 2007

Serum bilirubin levels and UGT1A1 promoter variations in patients with schizophrenia

scientific article published on 21 May 2010

Severe bile salt export pump deficiency: 82 different ABCB11 mutations in 109 families.

scientific article

Soluble adhesion molecules and cytokines in patients with myasthenia gravis treated by plasma exchange

scientific article published on 01 January 2000

Successful Treatment of Iron-Overload Cardiomyopathy in Hereditary Hemochromatosis With Deferoxamine and Deferiprone

scientific article published on 28 July 2016

Treatment of pruritus with Prometheus dialysis and absorption system in a patient with benign recurrent intrahepatic cholestasis

scientific article published on 2 December 2013

Troy, a tumor necrosis factor receptor family member, interacts with lgr5 to inhibit wnt signaling in intestinal stem cells.

scientific article

USP18 downregulation in peripheral blood mononuclear cells predicts nonresponse to interferon-based triple therapy in patients with chronic hepatitis C, genotype 1: a pilot study.

scientific article

Wilson disease as a cause of liver injury in cystic fibrosis

scientific article

List of works by Milan Jirsa

1H MR spectroscopy as a diagnostic tool for cerebral creatine deficiency

5-aminolaevulinic acid-induced fluorescence cystoscopy during transurethral resection reduces the risk of recurrence in stage Ta/T1 bladder cancer.

ABCB4 mutations underlie hormonal cholestasis but not pediatric idiopathic gallstones.

ATP8B1 gene expression is driven by a housekeeping-like promoter independent of bile acids and farnesoid X receptor

Alagille Syndrome Mimicking Biliary Atresia in Early Infancy

CYP7A1 promoter polymorphism -203A>C affects bile salt synthesis rate in patients after ileal resection

Carcinoembryonic antigen-related cell adhesion molecule 1 is the 85-kilodalton pronase-resistant biliary glycoprotein in the cholesterol crystallization promoting low density protein-lipid complex.

Chemically different non-thermal plasmas target distinct cell death pathways.

Complete OATP1B1 and OATP1B3 deficiency causes human Rotor syndrome by interrupting conjugated bilirubin reuptake into the liver

Cytotoxic bilirubin metabolites overlooked so far

Disruption of OTC promoter-enhancer interaction in a patient with symptoms of ornithine carbamoyltransferase deficiency.

Do common genetic variants in endotoxin signaling pathway contribute to predisposition to alcoholic liver cirrhosis?

Dual hereditary jaundice: simultaneous occurrence of mutations causing Gilbert's and Dubin-Johnson syndrome.

Effect of acute hyperglycaemia on selected plasma and urinary cytokine antagonists in Type 1 diabetes mellitus

Fat mass and obesity-associated (fto) gene and alcohol intake

Genetic background of cholesterol gallstone disease

Genetic variation in TNFA predicts protection from severe bacterial infections in patients with end-stage liver disease awaiting liver transplantation.

Gilbert syndrome and ischemic heart disease: a protective effect of elevated bilirubin levels

Glucocerebrosidase gene has an alternative upstream promoter, which has features and expression characteristic of housekeeping genes

HGSNAT has a TATA-less promoter with multiple starts of transcription.

Hepatic Tumor Cell Morphology Plasticity under Physical Constraints in 3D Cultures Driven by YAP-mTOR Axis

Hepcidin knockout mice spontaneously develop chronic pancreatitis owing to cytoplasmic iron overload in acinar cells.

Hereditary haemochromatosis caused by homozygousHJVmutation evolved through paternal disomy

Highly sensitive method for quantitative determination of bilirubin in biological fluids and tissues.

Immunoaffinity isolation of CEACAM1 on hydrazide-derivatized cellulose with immobilized monoclonal anti-CEA antibody

Incomplete distal renal tubular acidosis coinherited with a mutation in the band 3 (AE1) gene

Indel in the FIC1/ATP8B1 gene?a novel rare type of mutation associated with benign recurrent intrahepatic cholestasis

Influence of Plasma Exchange on Serum Levels of Cytokines and Adhesion Molecules in ANCA-Positive Renal Vasculitis ⬇️

Intestinal colonization leading to fecal urobilinoid excretion may play a role in the pathogenesis of neonatal jaundice

LONG TERM TREATMENT OF IgA NEPHROPATHY WITH CYCLOSPORINE A

Linkage between A(TA)7TAA and -3279T>G mutations in UGT1A1 is not essential for pathogenesis of Gilbert syndrome

Long-term treatment of IgA nephropathy with cyclosporin A-a preliminary report

Modulation of collective cell behaviour by geometrical constraints.

N-acetyl cysteine averted liver transplantation in a patient with liver failure caused by erythropoietic protoporphyria

NKD1 marks intestinal and liver tumors linked to aberrant Wnt signaling.

Nasobiliary drainage in an episode of intrahepatic cholestasis in a child with mild ABCB11 disease

New insights in bilirubin metabolism and their clinical implications

Novel ABCB11 mutations in a Thai infant with progressive familial intrahepatic cholestasis

Ornithine carbamoyltransferase deficiency: molecular characterization of 29 families.

Prevalence and risk factors of steatosis after liver transplantation and patient outcomes.

Radionuclide cholescintigraphy in genetically confirmed Rotor syndrome

Rare variants in known and novel candidate genes predisposing to statin-associated myopathy.

Relation between hepatic expression of ATP-binding cassette transporters G5 and G8 and biliary cholesterol secretion in mice

Relevance of low viral load in haemodialysed patients with chronic hepatitis C virus infection

Revised King's College score for liver transplantation in adult patients with Wilson's disease

Role of biliary proteins and non-protein factors in kinetics of cholesterol crystallisation and gallstone growth.

Rotor-type hyperbilirubinaemia has no defect in the canalicular bilirubin export pump

Serum bilirubin levels and UGT1A1 promoter variations in patients with schizophrenia

Severe bile salt export pump deficiency: 82 different ABCB11 mutations in 109 families.

Soluble adhesion molecules and cytokines in patients with myasthenia gravis treated by plasma exchange

Successful Treatment of Iron-Overload Cardiomyopathy in Hereditary Hemochromatosis With Deferoxamine and Deferiprone

Treatment of pruritus with Prometheus dialysis and absorption system in a patient with benign recurrent intrahepatic cholestasis

Troy, a tumor necrosis factor receptor family member, interacts with lgr5 to inhibit wnt signaling in intestinal stem cells.

USP18 downregulation in peripheral blood mononuclear cells predicts nonresponse to interferon-based triple therapy in patients with chronic hepatitis C, genotype 1: a pilot study.

Wilson disease as a cause of liver injury in cystic fibrosis