Progressive familial intrahepatic cholestasis
Definition:
References:
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[1]. Amelie Stalke, et al. KIF12 Variants and Disturbed Hepatocyte Polarity in Children with a Phenotypic Spectrum of Cholestatic Liver Disease. J Pediatr. 2022 Jan;240:284-291.e9. [Content Brief]
[2]. Emily Gao, et al. Organic Solute Transporter Alpha Deficiency: A Disorder With Cholestasis, Liver Fibrosis, and Congenital Diarrhea. Hepatology. 2020 May;71(5):1879-1882. [Content Brief]
[3]. J M de Vree, et al. Mutations in the MDR3 gene cause progressive familial intrahepatic cholestasis. Proc Natl Acad Sci U S A. 1998 Jan 6;95(1):282-7. [Content Brief]
[4]. Jing Zhang, et al. Low-GGT intrahepatic cholestasis associated with biallelic USP53 variants: Clinical, histological and ultrastructural characterization. Liver Int. 2020 May;40(5):1142-1150. [Content Brief]
[5]. Kavita Gaur, et al. Progressive familial intrahepatic cholestasis: A comprehensive review of a challenging liver disease. Indian J Pathol Microbiol. 2017 Jan-Mar;60(1):2-7. [Content Brief]
[6]. L N Bull, et al. A gene encoding a P-type ATPase mutated in two forms of hereditary cholestasis. Nat Genet. 1998 Mar;18(3):219-24. [Content Brief]
[7]. Melissa Sambrotta, et al. Mutations in TJP2 cause progressive cholestatic liver disease. Nat Genet. 2014 Apr;46(4):326-8. [Content Brief]
[8]. Natalia Gomez-Ospina, et al. Mutations in the nuclear bile acid receptor FXR cause progressive familial intrahepatic cholestasis. Nat Commun. 2016 Feb 18;7:10713. [Content Brief]
[9]. S S Strautnieks, et al. A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis. Nat Genet. 1998 Nov;20(3):233-8. [Content Brief]
[10]. Syed Amer, et al. A Comprehensive Review of Progressive Familial Intrahepatic Cholestasis (PFIC): Genetic Disorders of Hepatocanalicular Transporters. Gastroenterology Res. 2014 Apr;7(2):39-43. [Content Brief]
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