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TranscriptomicsComprehensive gene expression profile of human livers from patients with biliary atresia at the time of diagnosis and the corresponding disease and normal controls
Liver biopsy samples were obtained from 64 infants with biliary atresia at the time of intraoperative cholangiogram. Liver biopsy samples were obtained from 14 age-matched infants with other causes of intrahepatic cholestasis, and from 7 deceased-donor children. GeneChip® Human Gene 1.0 ST Array (Af...
ORGANISM(S): Homo sapiens 
2013-06-01 | E-GEOD-46960 | biostudies-arrayexpress
ProteomicsHepatic Sel1L-Hrd1 ER-associated degradation deficiency leads to intrahepatic cholestasis in mice
The liver is the central organ critically regulating the balance of the metabolically potent yet toxic bile acids in the body. While genomic association studies have pointed to hepatic Sel1L – a critical component of mammalian Hrd1 ER-associated degradation (ERAD) machinery – as an influencer of ser...
ORGANISM(S): Mus musculus (Mouse) 
2023-03-11 | PXD035243 | Pride
Bile Liver Cholestasis Progressive familial intrahepatic cholestasis Abcb4 Sel1l-hrd1 erad 
Unknown[Progressive familial intrahepatic cholestasis type 3].
Not available
S-EPMC8522827 | biostudies-literature
ProteomicsMolecular insights of cholestasis in MDR2KO murine liver organoids. A model for the early detection of cirrhosis and HCC
MDR3 (multidrug resistance 3) deficiency in humans (MDR2 in mice) causes progressive familial intrahepatic cholestasis type 3 (PFIC3). PFIC3 is a lethal disease characterized by an early onset of intrahepatic cholestasis, progressing to liver cirrhosis which is considered a preneoplastic condition, ...
ORGANISM(S): Mus musculus (Mouse) 
2026-09-17 | PXD047995 | Pride
Pfic3 Mdr2 Cholestasis and hepatocellular carcinoma Organoid 
UnknownNewer variants of progressive familial intrahepatic cholestasis.
Not available
S-EPMC8727216 | biostudies-literature
UnknownClinical and ABCB11 profiles in Korean infants with progressive familial intrahepatic cholestasis.
Not available
S-EPMC4873882 | biostudies-literature
UnknownIdentification of a locus for progressive familial intrahepatic cholestasis PFIC2 on chromosome 2q24.
Not available
S-EPMC1715942 | biostudies-literature
UnknownMutations in the nuclear bile acid receptor FXR cause progressive familial intrahepatic cholestasis.
Not available
S-EPMC4759630 | biostudies-literature
UnknownNovel mutation in a Chinese patient with progressive familial intrahepatic cholestasis type 3.
Not available
S-EPMC4292307 | biostudies-literature
UnknownOpinion paper on the diagnosis and treatment of progressive familial intrahepatic cholestasis.
Not available
S-EPMC10772241 | biostudies-literature
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