Molecular characterization and structural implications of 25 new ABCB4 mutations in progressive familial intrahepatic cholestasis type 3 (PFIC3).
about
Molecular mechanistic explanation for the spectrum of cholestatic disease caused by the S320F variant of ABCB4Two ABCB4 point mutations of strategic NBD-motifs do not prevent protein targeting to the plasma membrane but promote MDR3 dysfunctionFirst 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).Functional characterization of ABCB4 mutations found in progressive familial intrahepatic cholestasis type 3Engineered fibroblast growth factor 19 reduces liver injury and resolves sclerosing cholangitis in Mdr2-deficient mice.Functional Characterization of ABCB4 Mutations Found in Low Phospholipid-Associated Cholelithiasis (LPAC).Clinical utility gene card for: progressive familial intrahepatic cholestasis type 3Genetic diseases that predispose to early liver cirrhosis.Effect of drug transporter pharmacogenetics on cholestasis.Current and future therapies for inherited cholestatic liver diseases.The characteristics of activated portal fibroblasts/myofibroblasts in liver fibrosis.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 mutations of MDR3 exons 9 and 23 in infants with parenteral nutrition-associated cholestasis.Genotype-phenotype relationships in the low-phospholipid-associated cholelithiasis syndrome: a study of 156 consecutive patients.Cryptogenic cholestasis in young and adults: ATP8B1, ABCB11, ABCB4, and TJP2 gene variants analysis by high-throughput sequencing.History of hepatic bile formation: old problems, new approaches.Defective ABCB4 does not transport PC from plasma membrane to extracellular regionPhenotype prediction of non-synonymous single-nucleotide polymorphisms in human ATP-binding cassette transporter genes.A functional classification of ABCB4 variations causing progressive familial intrahepatic cholestasis type 3.Phosphorylation of ABCB4 impacts its function: insights from disease-causing mutations.Phenotypic spectrum and diagnostic pitfalls of ABCB4 deficiency depending on age of onset.Ductopenia and cirrhosis in a 32-year-old woman with progressive familial intrahepatic cholestasis type 3: A case report and review of the literature
P2860
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P2860
Molecular characterization and structural implications of 25 new ABCB4 mutations in progressive familial intrahepatic cholestasis type 3 (PFIC3).
description
2007 nî lūn-bûn
@nan
2007年の論文
@ja
2007年学术文章
@wuu
2007年学术文章
@zh
2007年学术文章
@zh-cn
2007年学术文章
@zh-hans
2007年学术文章
@zh-my
2007年学术文章
@zh-sg
2007年學術文章
@yue
2007年學術文章
@zh-hant
name
Molecular characterization and ...... ic cholestasis type 3 (PFIC3).
@en
Molecular characterization and ...... ntrahepatic cholestasis type 3
@nl
type
label
Molecular characterization and ...... ic cholestasis type 3 (PFIC3).
@en
Molecular characterization and ...... ntrahepatic cholestasis type 3
@nl
prefLabel
Molecular characterization and ...... ic cholestasis type 3 (PFIC3).
@en
Molecular characterization and ...... ntrahepatic cholestasis type 3
@nl
P2093
P2860
P356
P1476
Molecular characterization and ...... ic cholestasis type 3 (PFIC3).
@en
P2093
Carla Colombo
Domenico Bordo
Laura Zazzeron
Lucy Costantino
Luigi Porcaro
Manuela Seia
P2860
P2888
P304
P356
10.1038/SJ.EJHG.5201908
P577
2007-08-29T00:00:00Z