Differences in presentation and progression between severe FIC1 and BSEP deficiencies. - Wikidata - awgldk - TriplyDB

Differences in presentation and progression between severe FIC1 and BSEP deficiencies.

Differences in presentation and progression between severe FIC1 and BSEP deficiencies.

http://www.wikidata.org/entity/Q34592094

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Dynamic regulation of cardiolipin by the lipid pump Atp8b1 determines the severity of lung injury in experimental pneumonia Liver transplantation and the management of progressive familial intrahepatic cholestasis in children Good and bad lipids in the lung Phospholipase D2 mediates signaling by ATPase class I type 8B membrane 1 P4 ATPases: flippases in health and disease Phospholipid flippases attenuate LPS-induced TLR4 signaling by mediating endocytic retrieval of Toll-like receptor 4 Strain background modifies phenotypes in the ATP8B1-deficient mouse.Progressive familial intrahepatic cholestasis.Clinical application of transcriptional activators of bile salt transporters.Two Cases of Progressive Familial Intrahepatic Cholestasis Type 2 Presenting with Severe Coagulopathy without Jaundice.Bile formation and secretion.Intractable itch relieved by 4-phenylbutyrate therapy in patients with progressive familial intrahepatic cholestasis type 1 Hepatobiliary quiz-10 (2014)Total serum bilirubin predicts fat-soluble vitamin deficiency better than serum bile acids in infants with biliary atresia.Mutational analysis of ATP8B1 in patients with chronic pancreatitis.Description of two new ABCB11 mutations responsible for type 2 benign recurrent intrahepatic cholestasis in a French-Canadian family The Features of GGT in Patients with ATP8B1 or ABCB11 Deficiency Improve the Diagnostic Efficiency.Structural and functional hepatocyte polarity and liver disease.Hepatobiliary transport in health and disease Morphologic findings in progressive familial intrahepatic cholestasis 2 (PFIC2): correlation with genetic and immunohistochemical studies Baseline Analysis of a Young α-1-Antitrypsin Deficiency Liver Disease Cohort Reveals Frequent Portal Hypertension.A perspective on efflux transport proteins in the liver Clinical utility gene card for: progressive familial intrahepatic cholestasis type 1.Clinical utility gene card for: progressive familial intrahepatic cholestasis type 2.An update on genetic analysis of cholestatic liver diseases: digging deeper.Autoimmune BSEP disease: disease recurrence after liver transplantation for progressive familial intrahepatic cholestasis.Multiple Looser zones of osteomalacia in Byler disease with associated vitamin D deficiency, phosphaturia, and elevated FGF23.Recent advances in the exploration of the bile salt export pump (BSEP/ABCB11) function.Progressive Familial Intrahepatic Cholestasis (PFIC) in Indian Children: Clinical Spectrum and Outcome.Prognostic roles of tetrahydroxy bile acids in infantile intrahepatic cholestasis.MYO5B mutations cause cholestasis with normal serum gamma-glutamyl transferase activity in children without microvillous inclusion disease.Exon-skipping and mRNA decay in human liver tissue: molecular consequences of pathogenic bile salt export pump mutations.Mutation detection in cholestatic patients using microarray resequencing of ATP8B1 and ABCB11.Defective canalicular transport and toxicity of dietary ursodeoxycholic acid in the abcb11-/- mouse: transport and gene expression studies.Loss-of-Function Mutations in UNC45A Cause a Syndrome Associating Cholestasis, Diarrhea, Impaired Hearing, and Bone Fragility.Assessment of ATP8B1 Deficiency in Pediatric Patients With Cholestasis Using Peripheral Blood Monocyte-Derived Macrophages.Hepatic cytochrome P450 deficiency in mouse models for intrahepatic cholestasis predispose to bile salt-induced cholestasis.Novel splice-site mutation in ATP8B1 results in atypical progressive familial intrahepatic cholestasis type 1.Outcomes of surgical management of familial intrahepatic cholestasis 1 and bile salt export protein deficiencies.Organic Solute Transporter α-β Protects Ileal Enterocytes From Bile Acid-Induced Injury.

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P2860

Differences in presentation and progression between severe FIC1 and BSEP deficiencies.

http://www.wikidata.org/entity/Q34592094

description

2010 nî lūn-bûn

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2010 թուականի Ապրիլին հրատարակուած գիտական յօդուած

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2010 թվականի ապրիլին հրատարակված գիտական հոդված

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2010年の論文

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2010年論文

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2010年論文

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2010年論文

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2010年論文

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2010年論文

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2010年论文

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name

Differences in presentation and progression between severe FIC1 and BSEP deficiencies.

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Differences in presentation and progression between severe FIC1 and BSEP deficiencies.

@en

Differences in presentation and progression between severe FIC1 and BSEP deficiencies.

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type

label

Differences in presentation and progression between severe FIC1 and BSEP deficiencies.

@ast

Differences in presentation and progression between severe FIC1 and BSEP deficiencies.

@en

Differences in presentation and progression between severe FIC1 and BSEP deficiencies.

@nl

prefLabel

Differences in presentation and progression between severe FIC1 and BSEP deficiencies.

@ast

Differences in presentation and progression between severe FIC1 and BSEP deficiencies.

@en

Differences in presentation and progression between severe FIC1 and BSEP deficiencies.

@nl

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J.JHEP.2010.01.034

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Journal of Hepatology

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Differences in presentation and progression between severe FIC1 and BSEP deficiencies.

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A S Knisely

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Albertien M van Eerde

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Antal Nemeth

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Anthony Antoniou

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Benjamin Shneider

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Billy Bourke

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Bjorn Fischler

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Catherine Wanty

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Etienne Sokal

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Florence Lacaille

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P2860

A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis

A missense mutation in FIC1 is associated with greenland familial cholestasis

Hepatocanalicular bile salt export pump deficiency in patients with progressive familial intrahepatic cholestasis

Clinical and biochemical findings in progressive familial intrahepatic cholestasis

Histologic pathology of the liver in progressive familial intrahepatic cholestasis

Progressive familial intrahepatic cholestasis, type 1, is associated with decreased farnesoid X receptor activity

Hepatocellular carcinoma in ten children under five years of age with bile salt export pump deficiency

Impaired expression and function of the bile salt export pump due to three novel ABCB11 mutations in intrahepatic cholestasis

A gene encoding a P-type ATPase mutated in two forms of hereditary cholestasis

Characterization of mutations in ATP8B1 associated with hereditary cholestasis

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