Associated Papers
ATP8B1 Deficiency Causes Phosphodiesterase 4-Mediated Glucagon Resistance and Impaired Gluconeogenesis in Mouse and Human Liver.
Chang JC et al.
Liver International : Official Journal of the International Association for the Study of the Liver, 2025
Long-Term Results of Pediatric Liver Transplantation for Progressive Familial Intrahepatic Cholestasis.
Hang C et al.
Journal of Clinical Medicine, 2022
36012923 (PubMed )
Supplement: jcm-11-04684-s001.zip › jcm-1802822-Table_S1.xlsx › Table_S1
Impact of Genotype, Serum Bile Acids, and Surgical Biliary Diversion on Native Liver Survival in FIC1 Deficiency.
van Wessel DBE et al.
Hepatology (baltimore, Md.), 2021
33666275 (PubMed )
Supplement: HEP-74-892-s001.pdf
Phenotypic and Molecular Characteristics of Children with Progressive Familial Intrahepatic Cholestasis in South China.
Zhang W et al.
Pediatric Gastroenterology, Hepatology & Nutrition, 2020
Novel ATP8B1 Gene Mutations in a Child with Progressive Familial Intrahepatic Cholestasis Type 1.
Rhee ES et al.
Pediatric Gastroenterology, Hepatology & Nutrition, 2019
The Features of GGT in Patients with ATP8B1 or ABCB11 Deficiency Improve the Diagnostic Efficiency.
Wang NL et al.
Plos One, 2016
Hypothyroidism Associated with ATP8B1 Deficiency.
Li L et al.
The Journal of Pediatrics, 2015
Analysis of aberrant pre-messenger RNA splicing resulting from mutations in ATP8B1 and efficient in vitro rescue by adapted U1 small nuclear RNA.
van der Woerd WL et al.
Hepatology (baltimore, Md.), 2015
Genetics and Molecular Modeling of New Mutations of Familial Intrahepatic Cholestasis in a Single Italian Center.
Giovannoni I et al.
Plos One, 2015
ATP8B1 and ABCB11 analysis in 62 children with normal gamma-glutamyl transferase progressive familial intrahepatic cholestasis (PFIC): phenotypic differences between PFIC1 and PFIC2 and natural history.
Davit-Spraul A et al.
Hepatology (baltimore, Md.), 2010
Altered hepatobiliary gene expressions in PFIC1: ATP8B1 gene defect is associated with CFTR downregulation.
Demeilliers C et al.
Hepatology (baltimore, Md.), 2006
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