Results 41 to 50 of about 3,364 (172)

Transcriptional regulation of hepatobiliary transport systems in health and disease: Implications for a rationale approach to the treatment of intrahepatic cholestasis

Annals of Hepatology, 2005
Hepatobiliary transport systems mediate hepatic uptake and biliary excretion of bile acids, bilirubin and other biliary constituents. Hereditary or acquired defects of these transporters may cause or maintain cholestasis and jaundice under various ...
Martin Wagner, Michael Trauner
doaj   +1 more source

Genetic Cholestasis: Lessons from the Molecular Physiology of Bile Formation

Canadian Journal of Gastroenterology, 2000
Progressive familial intrahepatic cholestasis (PFIC) is a group of severe genetic cholestatic liver diseases of early life. PFIC types 1 and 2 are characterized by cholestasis and a low to normal serum gamma-glutamyltransferase (GGT) activity, whereas in
Peter LM Jansen, Michael Müller
doaj   +1 more source

Burden of Liver Disease Among Individuals With Turner Syndrome and Klinefelter Syndrome: A Comprehensive Perspective

Chronic Diseases and Translational Medicine, Volume 12, Issue 1, Page 39-48, March 2026.
ABSTRACT The liver is increasingly recognized as a major regulator of systemic cardio‐renal‐metabolic health. Evidence is mounting that sex‐chromosome dosage per se itself, independent of gonadal sex hormones, modulates hepatic physiology and liver disease risk.
Mohamad Jamalinia, Amedeo Lonardo, Ralf Weiskirchen   +2 more
wiley   +1 more source

Strain background modifies phenotypes in the ATP8B1-deficient mouse. [PDF]

PLoS ONE, 2010
Mutations in ATP8B1 (FIC1) underlie cases of cholestatic disease, ranging from chronic and progressive (progressive familial intrahepatic cholestasis) to intermittent (benign recurrent intrahepatic cholestasis).
Sohela Shah, Ukina R Sanford, Julie C Vargas, Hongmei Xu, Annamiek Groen, Coen C Paulusma, James P Grenert, Ludmila Pawlikowska, Saunak Sen, Ronald P J Oude Elferink, Laura N Bull   +10 more
doaj   +1 more source

Clinical Practice Guidelines for Peroral Cholangioscopy

Journal of Hepato-Biliary-Pancreatic Sciences, Volume 33, Issue 1, Page 58-71, January 2026.
Nagai and colleagues present evidence‐based clinical practice guidelines developed by the Japan Biliary Association to support the use of peroral cholangioscopy. The guidelines address indications, procedural standards, diagnostic and therapeutic applications, and adverse event management, providing a practical reference for the safe and effective use ...
Kazumasa Nagai, Akio Katanuma, Shomei Ryozawa, Yoshinobu Okabe, Naoki Okano, Hiroki Kawashima, Hiroshi Kawakami, Hironari Kato, Nobuhiko Hayashi, Atsushi Irisawa, Etsuro Hatano, Ichiro Yasuda, Yoshinori Igarashi, Takao Itoi   +13 more
wiley   +1 more source

Prenatal Noninvasive Trio-WES in a Case of Pregnancy-Related Liver Disorder

Diagnostics, 2021
Liver disease in pregnancy may present as an acute condition related to the gestational period, characterized by pruritus, jaundice, and abnormal liver function.
Aldesia Provenzano, Antonio Farina, Anna Seidenari, Francesco Azzaroli, Carla Serra, Anna Della Gatta, Orsetta Zuffardi, Sabrina Rita Giglio   +7 more
doaj   +1 more source

Case report: A rare case of pyruvate kinase deficiency and Crigler-Najjar syndrome type II with a novel pathogenic variant of PKLR and UGT1A1 mutation

Frontiers in Genetics, 2023
Pyruvate Kinase Deficiency (PKD) and Crigler-Najjar syndrome are rare autosomal recessive liver diseases. PKD is caused by homozygous or compound heterozygous mutations in the PKLR gene, leading to non-spherocytic hereditary hemolytic anemia.
Huan Wu, Long Wu, Quan Zhang, Bao-fang Zhang   +3 more
doaj   +1 more source

Genotype–Phenotype Correlation in TTC7A ‐Associated Gastrointestinal Defects and Immunodeficiency Syndrome 1

American Journal of Medical Genetics Part A, Volume 197, Issue 12, December 2025.
ABSTRACT Gastrointestinal defects and immunodeficiency syndrome 1 (GIDID1) is a rare autosomal recessive disorder caused by biallelic variants in TTC7A. GIDID1 is characterized by a broad clinical spectrum ranging from very early‐onset inflammatory bowel disease (VEOIBD) to multiple intestinal atresia (MIA) with or without immunological manifestations.
Julia Imhoff, Hans Christian Schmidt, Matthias Hans Belau, Johanna Hagens, Mario Lange, Daniel Tegtmeyer, Konrad Reinshagen, Frederike Leonie Harms, Christian Tomuschat   +8 more
wiley   +1 more source

Intrahepatic cholestasis in two omani siblings associated with a novel homozygous ATP8B1 mutation, c.379C>G (p.L127V)

The Saudi Journal of Gastroenterology, 2017
We report two Omani brothers with intrahepatic cholestasis that resolved with supportive care. In one, cholestasis began in infancy; in the other, only at the age of 18 months.
Hassib Narchi, Suhailah Alhefeiti, Fatmah Althabahi, Jozef Hertecant, A S Knisely, Abdul-Kader Souid   +5 more
doaj   +1 more source

Alagille syndrome and liver: an adult case report

Egyptian Liver Journal, 2023
Background Alagille syndrome is a rare autosomal-dominant disorder, representing 10 to 15% of the causes of neonatal cholestasis with no gender predominance.
Oussama Kharmach, Mohamed Borahma, Fatima-Zohra Ajana   +2 more
doaj   +1 more source