Genetic cholestasis has been dissected through genetic investigation. The major PFIC genes are now described. ATP8B1 encodes FIC1, ABCB11 encodes BSEP, ABCB4 encodes MDR3, TJP2 encodes TJP2, NR1H4 encodes FXR, and MYO5B encodes MYO5B. The full spectra of phenotypes associated with mutations in each gene are discussed, along with our understanding of the disease mechanisms. Differences in treatment response and targets for future treatment are emerging.</p
Background: Mutations in ATP-transporters ATPB81, ABCB11, and ABCB4 are responsible for progressive ...
The progressive familial intrahepatic cholestases (PFIC) are a group of inherited disorders with sev...
Progressive familial intrahepatic cholestasis type 3 (PFIC3) is an autosomal-recessive disorder due ...
Genetic cholestasis has been dissected through genetic investigation. The major PFIC genes are now d...
Background: Progressive familial intrahepatic cholestasis (PFIC) includes autosomal recessive choles...
Progressive familial intrahepatic cholestasis (PFIC) refers to a heterogeneous group of autosomal-re...
Progressive familial intrahepatic cholestasis (PFIC) is a group of severe genetic cholestatic liver ...
Cholestasis is characterised by impaired bile secretion and accumulation of bile salts in the organi...
(English) Recent progress in understanding the molecular mechanism of hepatobiliary disorders enable...
Abstract Background Progressive familial intrahepatic cholestasis (PFIC) is caused by variations in ...
Simple Summary Cholestasis refers to a medical condition in which the liver is not capable of secret...
<div><p>Familial intrahepatic cholestases (FICs) are a heterogeneous group of autosomal recessive di...
Progressive familial intrahepatic cholestasis (PFIC) and benign recurrent intrahepatic cholestasis (...
The Progressive Familial Intrahepatic Cholestasis (PFIC) disease spectrum encompasses a variety of g...
Progressive familial intrahepatic cholestasis (PFIC) is an autosomal recessive inherited disease tha...
Background: Mutations in ATP-transporters ATPB81, ABCB11, and ABCB4 are responsible for progressive ...
The progressive familial intrahepatic cholestases (PFIC) are a group of inherited disorders with sev...
Progressive familial intrahepatic cholestasis type 3 (PFIC3) is an autosomal-recessive disorder due ...
Genetic cholestasis has been dissected through genetic investigation. The major PFIC genes are now d...
Background: Progressive familial intrahepatic cholestasis (PFIC) includes autosomal recessive choles...
Progressive familial intrahepatic cholestasis (PFIC) refers to a heterogeneous group of autosomal-re...
Progressive familial intrahepatic cholestasis (PFIC) is a group of severe genetic cholestatic liver ...
Cholestasis is characterised by impaired bile secretion and accumulation of bile salts in the organi...
(English) Recent progress in understanding the molecular mechanism of hepatobiliary disorders enable...
Abstract Background Progressive familial intrahepatic cholestasis (PFIC) is caused by variations in ...
Simple Summary Cholestasis refers to a medical condition in which the liver is not capable of secret...
<div><p>Familial intrahepatic cholestases (FICs) are a heterogeneous group of autosomal recessive di...
Progressive familial intrahepatic cholestasis (PFIC) and benign recurrent intrahepatic cholestasis (...
The Progressive Familial Intrahepatic Cholestasis (PFIC) disease spectrum encompasses a variety of g...
Progressive familial intrahepatic cholestasis (PFIC) is an autosomal recessive inherited disease tha...
Background: Mutations in ATP-transporters ATPB81, ABCB11, and ABCB4 are responsible for progressive ...
The progressive familial intrahepatic cholestases (PFIC) are a group of inherited disorders with sev...
Progressive familial intrahepatic cholestasis type 3 (PFIC3) is an autosomal-recessive disorder due ...
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