Results 91 to 100 of about 59,179 (315)

Genotype–Phenotype Correlations of Monoallelic PFIC Variants in Pediatric Liver Disease: A Multicenter Retrospective Cohort Study

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Progressive familial intrahepatic cholestasis (PFIC) is classically caused by biallelic pathogenic variants, yet monoallelic variants of uncertain significance (VUS) in PFIC‐associated genes are increasingly identified in children with cholestasis, creating diagnostic uncertainty.
Brett J. Hoskins, Tiziano Pramparo, Chaowapong Jarasvaraparn, Michael J. Wilsey, Voytek Slowik, Lakshmi Kunam, Janis M. Stoll, Ruben E. Quiros‐Tejeira, Simon Lam, Wikrom Karnsakul   +9 more
wiley   +1 more source

Tissue Damage in Rheumatoid Arthritis Is Genetically Linked to Low Peptidylglycine Alpha‐Amidating Monooxygenase Activity in Synovial Fibroblasts

Arthritis &Rheumatology, EarlyView.
Objective Both susceptibility to, and severity of, rheumatoid arthritis (RA) is associated with the rs26232 C allele. Our primary aim was to identify the biologic mechanism underlying this association. Methods Expression of surrounding genes was compared among rs26232 genotypes.
Kevin J. Sheridan, Emma R. Dorris, Maria Inês Pimenta, Jemma Falkov, Matthew Fisher, Sam Pledger, Hector Devey, Munitta Muthana, Denis C. Shields, Richard E. Mains, Betty A. Eipper, Christopher D. Buckley, Anthony G. Wilson   +12 more
wiley   +1 more source

Quantitative Systems Toxicology Model Predicts Obeticholic Acid‐Associated Liver Injury in Metabolic Dysfunction‐Associated Steatotic Liver Disease

Clinical Pharmacology &Therapeutics, EarlyView.
Obeticholic acid (OCA), a synthetic analog of chenodeoxycholic acid, was approved in 2016 for the treatment of primary biliary cholangitis. Early clinical trials revealed elevated liver biomarkers in healthy subjects receiving supratherapeutic OCA doses (100–250 mg).
Abigail K. Mayo, James J. Beaudoin, Jeffrey L. Woodhead, Paul B. Watkins, Kim L. R. Brouwer   +4 more
wiley   +1 more source

Update on primary biliary cirrhosis [PDF]

, 2010
Primary biliary cirrhosis is an autoimmune chronic liver disease characterized by progressive bile duct destruction eventually leading to cirrhosis, liver failure, and death.
M. Eric Gershwin, P. Invernizzi, C. Selmi, M. E. Gershwin, Pietro Invernizzi, Carlo Selmi   +5 more
core   +1 more source

Hepatic manifestations of celiac disease

Clinical and Experimental Gastroenterology, 2010
Hugh James FreemanDepartment of Medicine (Gastroenterology), University of British Columbia, Vancouver, British Columbia, CanadaAbstract: Different hepatic and biliary tract disorders may occur with celiac disease.
Hugh James Freeman
doaj  

Pyruvate dehydrogenase autoantibodies in autoantibody‐negative patients with seizures are associated with reduced pyruvate dehydrogenase activity

Epilepsia, EarlyView.
Abstract Objective We investigated the presence and potential functional relevance of antimitochondrial autoantibodies in patients suspicious for autoimmune encephalitis (AIE) associated with psychiatric symptoms and/or seizures, who were negative for known antineuronal autoantibodies.
Annika Breuer, Chiara A. Hummel, Tobias Baumgartner, Juliane L. Berns, Afaf Milad Said, Isabel Bünger, Susanne Schoch, Gábor Zsurka, Harald Prüss, Wolfram S. Kunz, Rainer Surges, Albert J. Becker, Julika Pitsch   +12 more
wiley   +1 more source

Unexplained Findings of Kayser-Fleischer-Like Rings in a Patient with Cryptogenic Cirrhosis

Case Reports in Gastrointestinal Medicine, 2012
Cryptogenic cirrhosis (CC) is defined as cirrhosis occurring in an individual without an identifiable cause of liver disease, such as excessive alcohol consumption, viral hepatitis infection, hemochromatosis, autoimmune hepatitis, primary biliary ...
Mahreema Jawairia, Miral Subhani, Ghulam Siddiqui, Apsara Prasad, Ghulamullah Shahzad, Kaleem Rizvon, Paul Mustacchia   +6 more
doaj   +1 more source

ATRESIA BILIER

Majalah Kedokteran Andalas, 2009
AbstrakAtresia bilier merupakan penyakit yang jarang terjadi dan penyababnya belum diketahui secara pasti. Karakteristik dari penyakit ini adalah terjadinya inflamasi progresif pada duktus bilier sehingga terjadi obstruksi ekstrahepatal yang akhirnya ...
Julinar Julinar, Yusri Dianne Jurnalis, Yorva Sayoeti   +2 more
doaj   +1 more source

Quadruplex Bioactive FAND for Treating Acute Liver Failure Induced by Acetaminophen or Hepatectomy

Exploration, EarlyView.
This work developed a bioactive quadruplex FANDHP@FuEVs with intrinsic inflammation‐targeting properties of M2‐EVs and MSC‐EVs, harnessing the synergistic biological activities by leveraging four natural active components—M2‐EVs, MSC‐EVs, HGF, and PPC—to deliver pleiotropic therapies, including antioxidant, anti‐inflammatory, pro‐regenerative, and M1 ...
Meng Sun, Fang Fang, Juan Liu, Yueyun Fan, Sa Wang, Chuang Zhang, Weiyu Li, Zhengyang Quan, Dongxu Zhao, Min Hu, Jinfeng Zhang   +10 more
wiley   +1 more source

Clinical, Molecular, and Histopathological Aspect of Primary Biliary Cholangitis

The Indonesian Journal of Gastroenterology, Hepatology and Digestive Endoscopy, 2020
Primary biliary cholangitis (PBC), previously known as primary biliary cirrhosis, is an autoimmune liver disease which tends to be chronic and progressive in nature that is marked by the presence of cholangitis and small size biliary duct destruction ...
Flora Dameria, Marini Stephanie, Ria Kodariah, Diah Rini Handjari, Ening Krisnuhoni, Nur Rahadiani   +5 more
doaj   +1 more source