An Update on Genetic Analysis of Cholestatic Liver Diseases: Digging Deeper
Published 2011 View Full Article
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Title
An Update on Genetic Analysis of Cholestatic Liver Diseases: Digging Deeper
Authors
Keywords
-
Journal
DIGESTIVE DISEASES
Volume 29, Issue 1, Pages 72-77
Publisher
S. Karger AG
Online
2011-06-20
DOI
10.1159/000324137
References
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Related references
Note: Only part of the references are listed.- Statement of the ESHG on direct-to-consumer genetic testing for health-related purposes
- (2010) EUROPEAN JOURNAL OF HUMAN GENETICS
- ATP8B1 and ABCB11 analysis in 62 children with normal gamma-glutamyl transferase progressive familial intrahepatic cholestasis (PFIC): Phenotypic differences between PFIC1 and PFIC2 and natural history
- (2010) Anne Davit-Spraul et al. HEPATOLOGY
- A flippase-independent function of ATP8B1, the protein affected in familial intrahepatic cholestasis type 1, is required for apical protein expression and microvillus formation in polarized epithelial cells
- (2010) Patricia M. Verhulst et al. HEPATOLOGY
- Differences in presentation and progression between severe FIC1 and BSEP deficiencies
- (2010) Ludmila Pawlikowska et al. JOURNAL OF HEPATOLOGY
- Mutations in VIPAR cause an arthrogryposis, renal dysfunction and cholestasis syndrome phenotype with defects in epithelial polarization
- (2010) Andrew R Cullinane et al. NATURE GENETICS
- Genome-wide meta-analyses identify three loci associated with primary biliary cirrhosis
- (2010) Xiangdong Liu et al. NATURE GENETICS
- Dynamic regulation of cardiolipin by the lipid pump Atp8b1 determines the severity of lung injury in experimental pneumonia
- (2010) Nancy B Ray et al. NATURE MEDICINE
- Genome-wide association studies and genetic risk assessment of liver diseases
- (2010) Marcin Krawczyk et al. Nature Reviews Gastroenterology & Hepatology
- The transporter “variome”: The missing link between gene variants and bile salt transporter function
- (2009) Roman Müllenbach et al. HEPATOLOGY
- Folding defects in P-type ATP 8B1 associated with hereditary cholestasis are ameliorated by 4-phenylbutyrate
- (2009) Lieke M. van der Velden et al. HEPATOLOGY
- Combined functional variants of hepatobiliary transporters and FXR aggravate intrahepatic cholestasis of pregnancy
- (2009) Vincent Zimmer et al. LIVER INTERNATIONAL
- HLA-B*5701 genotype is a major determinant of drug-induced liver injury due to flucloxacillin
- (2009) Ann K Daly et al. NATURE GENETICS
- Primary Biliary Cirrhosis Associated withHLA, IL12A,andIL12RB2Variants
- (2009) Gideon M. Hirschfield et al. NEW ENGLAND JOURNAL OF MEDICINE
- Polymorphic variants in the human bile salt export pump (BSEP; ABCB11): functional characterization and interindividual variability
- (2009) Richard H. Ho et al. Pharmacogenetics and Genomics
- Severe Bile Salt Export Pump Deficiency: 82 Different ABCB11 Mutations in 109 Families
- (2008) Sandra S. Strautnieks et al. GASTROENTEROLOGY
- Contribution of variant alleles of ABCB11 to susceptibility to intrahepatic cholestasis of pregnancy
- (2008) P H Dixon et al. GUT
- Missense mutations and single nucleotide polymorphisms in ABCB11 impair bile salt export pump processing and function or disrupt pre-messenger RNA splicing
- (2008) Jane A. Byrne et al. HEPATOLOGY
- Increased susceptibility for intrahepatic cholestasis of pregnancy and contraceptive-induced cholestasis in carriers of the 1331T>C polymorphism in the bile salt export pump
- (2008) Yvonne Meier et al. WORLD JOURNAL OF GASTROENTEROLOGY
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