Mutations in TJP2 cause progressive cholestatic liver disease.
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Liver transplantation and the management of progressive familial intrahepatic cholestasis in childrenRecent advances in understanding and managing cholestasisLiver tumors in children with metabolic disordersMutations in the nuclear bile acid receptor FXR cause progressive familial intrahepatic cholestasisIndividual exome analysis in diagnosis and management of paediatric liver failure of indeterminate aetiology.The Features of GGT in Patients with ATP8B1 or ABCB11 Deficiency Improve the Diagnostic Efficiency.Structural and functional hepatocyte polarity and liver disease.Hepatocellular carcinoma associated with tight-junction protein 2 deficiencyMice with Hepatic Loss of the Desmosomal Protein γ-Catenin Are Prone to Cholestatic Injury and Chemical CarcinogenesisA Common Variant in CLDN14 is Associated with Primary Biliary Cirrhosis and Bone Mineral DensityACOX2 deficiency: A disorder of bile acid synthesis with transaminase elevation, liver fibrosis, ataxia, and cognitive impairment.Clinical and molecular study of a pediatric patient with sodium taurocholate cotransporting polypeptide deficiency.Low-dose acetaminophen induces early disruption of cell-cell tight junctions in human hepatic cells and mouse liver.Generation of a bile salt export pump deficiency model using patient-specific induced pluripotent stem cell-derived hepatocyte-like cellsImproving hearing loss gene testing: a systematic review of gene evidence toward more efficient next-generation sequencing-based diagnostic testing and interpretation.Current and future therapies for inherited cholestatic liver diseases.The intestinal epithelial barrier: a therapeutic target?Defects in myosin VB are associated with a spectrum of previously undiagnosed low γ-glutamyltransferase cholestasisZO-2, a tight junction protein involved in gene expression, proliferation, apoptosis, and cell size regulation.SUMOylation regulates the intracellular fate of ZO-2.MYO5B mutations cause cholestasis with normal serum gamma-glutamyl transferase activity in children without microvillous inclusion disease.Vps33b is crucial for structural and functional hepatocyte polarity.MDR3 mutation analysis: A step closer to precision medicine.Exon-skipping and mRNA decay in human liver tissue: molecular consequences of pathogenic bile salt export pump mutations.Partial external biliary diversion in bile salt export pump deficiency: Association between outcome and mutation.An expanded role for heterozygous mutations of ABCB4, ABCB11, ATP8B1, ABCC2 and TJP2 in intrahepatic cholestasis of pregnancy.Mutations in TJP2, encoding zona occludens 2, and liver disease.Dual catenin loss in murine liver causes tight junctional deregulation and progressive intrahepatic cholestasis.Mutations in DCDC2 (doublecortin domain containing protein 2) in neonatal sclerosing cholangitis.The cystic fibrosis transmembrane conductance regulator controls biliary epithelial inflammation and permeability by regulating Src tyrosine kinase activity.Cryptogenic cholestasis in young and adults: ATP8B1, ABCB11, ABCB4, and TJP2 gene variants analysis by high-throughput sequencing.Genetic profiling of children with advanced cholestatic liver disease.Paediatric hepatocellular carcinoma in tight junction protein 2 (TJP2) deficiency.Liver transplantation for decompensated liver cirrhosis caused by progressive familial intrahepatic cholestasis type 3: A case report.Assessment of ATP8B1 Deficiency in Pediatric Patients With Cholestasis Using Peripheral Blood Monocyte-Derived Macrophages.Unexplained cholestasis in adults and adolescents: diagnostic benefit of genetic examination.[Intracranial hemorrhage secondary to vitamin K deficiency in an infant despite oral vitamin K prophylaxis : Also a challenge for the anesthesiologist].Whole-genome resequencing reveals candidate mutations for pig prolificacy.Phenotypic spectrum and diagnostic pitfalls of ABCB4 deficiency depending on age of onset.Spectrum of genomic variations in Indian patients with progressive familial intrahepatic cholestasis
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P2860
Mutations in TJP2 cause progressive cholestatic liver disease.
description
2014 nî lūn-bûn
@nan
2014 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի մարտին հրատարակված գիտական հոդված
@hy
2014年の論文
@ja
2014年論文
@yue
2014年論文
@zh-hant
2014年論文
@zh-hk
2014年論文
@zh-mo
2014年論文
@zh-tw
2014年论文
@wuu
name
Mutations in TJP2 cause progressive cholestatic liver disease.
@ast
Mutations in TJP2 cause progressive cholestatic liver disease.
@en
Mutations in TJP2 cause progressive cholestatic liver disease.
@en-gb
type
label
Mutations in TJP2 cause progressive cholestatic liver disease.
@ast
Mutations in TJP2 cause progressive cholestatic liver disease.
@en
Mutations in TJP2 cause progressive cholestatic liver disease.
@en-gb
prefLabel
Mutations in TJP2 cause progressive cholestatic liver disease.
@ast
Mutations in TJP2 cause progressive cholestatic liver disease.
@en
Mutations in TJP2 cause progressive cholestatic liver disease.
@en-gb
P2093
P2860
P50
P356
P1433
P1476
Mutations in TJP2 cause progressive cholestatic liver disease.
@en
P2093
A S Knisely
Barnaby E Clark
Bart E Wagner
Binita M Kamath
Colin A Johnson
Efterpi Papouli
Giorgina Mieli-Vergani
John C Magee
Joshua D Smith
Laura N Bull
P2860
P2888
P304
P356
10.1038/NG.2918
P407
P50
P577
2014-03-09T00:00:00Z