A multidrug resistance 3 gene mutation causing cholelithiasis, cholestasis of pregnancy, and adulthood biliary cirrhosis.
about
Progressive familial intrahepatic cholestasisLow phospholipid associated cholelithiasis: association with mutation in the MDR3/ABCB4 gene.Atypical causes of cholestasisIntegrating multiple genomic data to predict disease-causing nonsynonymous single nucleotide variants in exome sequencing studies.A mutation in the canalicular phospholipid transporter gene, ABCB4, is associated with cholestasis, ductopenia, and cirrhosis in adults.Progressive familial intrahepatic cholestasis.ABCB4 mutations underlie hormonal cholestasis but not pediatric idiopathic gallstones.ABCB4 missense mutations D243A, K435T, G535D, I490T, R545C, and S978P significantly impair the lipid floppase and likely predispose to secondary pathologies in the human population.Bile formation and secretion.ABCB4 exports phosphatidylcholine in a sphingomyelin-dependent manner.ATP8B1 mutations in British cases with intrahepatic cholestasis of pregnancy.Intrahepatic cholestasis of pregnancy: the severe form is associated with common variants of the hepatobiliary phospholipid transporter ABCB4 gene.First description of ABCB4 gene deletions in familial low phospholipid-associated cholelithiasis and oral contraceptives-induced cholestasis.Functional defect of variants in the adenosine triphosphate-binding sites of ABCB4 and their rescue by the cystic fibrosis transmembrane conductance regulator potentiator, ivacaftor (VX-770).Bile salt-stimulated phospholipid efflux mediated by ABCB4 localized in nonraft membranes.Genetic factors in the pathogenesis of cholangiocarcinomaCongenital cholestatic syndromes: what happens when children grow up?Molecular pathogenesis of intrahepatic cholestasis of pregnancy.Increased susceptibility for intrahepatic cholestasis of pregnancy and contraceptive-induced cholestasis in carriers of the 1331T>C polymorphism in the bile salt export pumpThe molecular genetics of intrahepatic cholestasis of pregnancy.Compensatory induction of liver efflux transporters in response to ANIT-induced liver injury is impaired in FXR-null mice.Engineered fibroblast growth factor 19 reduces liver injury and resolves sclerosing cholangitis in Mdr2-deficient mice.The Multiple Facets of ABCB4 (MDR3) DeficiencyClinical utility gene card for: progressive familial intrahepatic cholestasis type 3Inflammatory disease of the bile ducts-cholangiopathies: liver biopsy challenge and clinicopathological correlation.Molecular mechanisms for biliary phospholipid and drug efflux mediated by ABCB4 and bile saltsNovel resequencing chip customized to diagnose mutations in patients with inherited syndromes of intrahepatic cholestasisA Comprehensive Review of Progressive Familial Intrahepatic Cholestasis (PFIC): Genetic Disorders of Hepatocanalicular Transporters.Molecular characterization of exons 6, 8 and 9 of ABCB4 gene in children with Progressive Familial Intrahepatic Cholestasis type 3.A missense mutation in ABCB4 gene involved in progressive familial intrahepatic cholestasis type 3 leads to a folding defect that can be rescued by low temperature.ABCB4 mutations in adult patients with cholestatic liver disease: impact and phenotypic expression.Analysis of gene mutations in children with cholestasis of undefined etiology.Early presentation of low phospholipid-associated cholelithiasis syndrome.Functional analysis of ABCB4 mutations relates clinical outcomes of progressive familial intrahepatic cholestasis type 3 to the degree of MDR3 floppase activity.[44-year-old woman with elevated liver enzymes and a family history for cholelithiasis].Heterozygous ABCB4 mutations in children with cholestatic liver disease.
P2860
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P2860
A multidrug resistance 3 gene mutation causing cholelithiasis, cholestasis of pregnancy, and adulthood biliary cirrhosis.
description
2003 nî lūn-bûn
@nan
2003年の論文
@ja
2003年学术文章
@wuu
2003年学术文章
@zh
2003年学术文章
@zh-cn
2003年学术文章
@zh-hans
2003年学术文章
@zh-my
2003年学术文章
@zh-sg
2003年學術文章
@yue
2003年學術文章
@zh-hant
name
A multidrug resistance 3 gene ...... d adulthood biliary cirrhosis.
@en
A multidrug resistance 3 gene ...... d adulthood biliary cirrhosis.
@nl
type
label
A multidrug resistance 3 gene ...... d adulthood biliary cirrhosis.
@en
A multidrug resistance 3 gene ...... d adulthood biliary cirrhosis.
@nl
prefLabel
A multidrug resistance 3 gene ...... d adulthood biliary cirrhosis.
@en
A multidrug resistance 3 gene ...... d adulthood biliary cirrhosis.
@nl
P2093
P50
P356
P1433
P1476
A multidrug resistance 3 gene ...... d adulthood biliary cirrhosis.
@en
P2093
J Ignacio Herrero
Jesus Garcia-Foncillas
Jorge Quiroga
Juan F Medina
Juan-Felipe Lucena
Natalia Zabalegui
P304
P356
10.1053/GAST.2003.50144
P407
P577
2003-04-01T00:00:00Z