A mouse genetic model for familial cholestasis caused by ATP8B1 mutations reveals perturbed bile salt homeostasis but no impairment in bile secretion
نویسندگان
چکیده
منابع مشابه
A mouse genetic model for familial cholestasis caused by ATP8B1 mutations reveals perturbed bile salt homeostasis but no impairment in bile secretion.
Mutations in ATP8B1, a broadly expressed P-type ATPase, result, through unknown mechanisms, in disorders of bile secretion. These disorders vary in severity from mild and episodic to progressive with liver failure. We generated Atp8b1G308V/G308V mutant mice, which carry a mutation orthologous to that present in homozygous form in patients from the Amish index kindred for severe ATP8B1 disease. ...
متن کاملClinical variability of mutations in the ABCB11 gene: a case report.
Progressive familial intrahepatic cholestasis (PFIC) includes a group of infrequent genetic diseases with autosomal recessive heredity, characterized by intrahepatic cholestasis, usually in childhood and in adolescence. It is caused by defective bile salt secretion and other bile components. The progression leading to liver failure and cirrhosis usually appears in the first few decades of life....
متن کاملGenetics and Molecular Modeling of New Mutations of Familial Intrahepatic Cholestasis in a Single Italian Center
Familial intrahepatic cholestases (FICs) are a heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin. Three distinct forms are described: FIC1 and FIC2, associated with low/normal GGT level in serum, which are caused by impaired bile salt secretion due to defects in ATP8B1 encoding the FIC1 protein and...
متن کاملHepatic immunohistochemistry of bile transporters in progressive familial intrahepatic cholestasis.
UNLABELLED Background. Diagnosis of progressive familial intrahepatic cholestasis (PFIC) is a challenging matter that involves the summation of clinical, laboratory, radiological, and liver histological parameters; in addition to specific investigations to exclude other causes of neonatal cholestasis. The aim of this study was to evaluate liver tissue immunohistochemistry of bile salt export p...
متن کاملMutations in the nuclear bile acid receptor FXR cause progressive familial intrahepatic cholestasis
Neonatal cholestasis is a potentially life-threatening condition requiring prompt diagnosis. Mutations in several different genes can cause progressive familial intrahepatic cholestasis, but known genes cannot account for all familial cases. Here we report four individuals from two unrelated families with neonatal cholestasis and mutations in NR1H4, which encodes the farnesoid X receptor (FXR),...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Human Molecular Genetics
سال: 2004
ISSN: 1460-2083
DOI: 10.1093/hmg/ddh100