Results 51 to 60 of about 674,474 (173)

Advances in FGF/FGFR Signaling: Implications for Disease and Therapy

MedComm, Volume 7, Issue 9, September 2026.
The FGF/FGFR signaling is indispensable for the maintenance of physiological homeostasis and governs multiple biological processes, including embryonic development, bone metabolism, angiogenesis, and neurogenesis, whereas aberrant hyperactivation of this pathway drives the progression of malignancies and autoimmune disorders, including inflammatory ...
Miaoyu Song, Xi Liu, Yang Xiao, Yongsheng Li, Huakan Zhao   +4 more
wiley   +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

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

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

Farnesoid x Receptor Deficiency Promotes Hepatocytic Injury in Cyp2c70‐Deficient Mice With a Human‐Like Bile Acid Composition

Liver International, Volume 46, Issue 5, May 2026.
ABSTRACT Background and Aims Loss‐of‐function mutations in bile acid (BA)‐activated farnesoid x receptor (FXR/NR1H4) cause severe neonatal liver pathology in humans, earlier referred to as progressive familial intrahepatic cholestasis type 5 (PFIC5). However, Fxr‐deficient mice do not develop early‐onset liver disease, possibly due to the predominance ...
Hilde D. de Vries, Jinxiao Li, Kirill Ustyantsev, Milaine V. Hovingh, Niels L. Mulder, Rick Havinga, Anna Palmiotti, Krisztina de Bruyn, Brecht Attema, Ellen Weersing, Rachel E. Thomas, Vincent W. Bloks, Eugene Berezikov, Martijn van Faassen, Henkjan J. Verkade, Jan Freark de Boer, Folkert Kuipers   +16 more
wiley   +1 more source

Genetics and Molecular Modeling of New Mutations of Familial Intrahepatic Cholestasis in a Single Italian Center.

PLoS ONE, 2015
Familial intrahepatic cholestases (FICs) are a heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin.
Isabella Giovannoni, Francesco Callea, Emanuele Bellacchio, Giuliano Torre, Jean De Ville De Goyet, Paola Francalanci   +5 more
doaj   +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

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