Cargando…

Phenotypic spectrum and diagnostic pitfalls of ABCB4 deficiency depending on age of onset

Genetic variants in the adenosine triphosphate‐binding cassette subfamily B member 4 (ABCB4) gene, which encodes hepatocanalicular phosphatidylcholine floppase, can lead to different phenotypes, such as progressive familial intrahepatic cholestasis (PFIC) type 3, low phospholipid‐associated cholelit...

Descripción completa

Detalles Bibliográficos
Autores principales:	Schatz, Stephanie Barbara, Jüngst, Christoph, Keitel‐Anselmo, Verena, Kubitz, Ralf, Becker, Christina, Gerner, Patrick, Pfister, Eva‐Doreen, Goldschmidt, Imeke, Junge, Norman, Wenning, Daniel, Gehring, Stephan, Arens, Stefan, Bretschneider, Dirk, Grothues, Dirk, Engelmann, Guido, Lammert, Frank, Baumann, Ulrich
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2018
Materias:	Original Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5944585/ https://www.ncbi.nlm.nih.gov/pubmed/29761167 http://dx.doi.org/10.1002/hep4.1149

Ejemplares similares

Ileal Bile Acid Transporter Inhibition Reduces Post-Transplant Diarrhea and Growth Failure in FIC1 Disease—A Case Report
por: Ohlendorf, Johanna, et al.
Publicado: (2022)

Native liver survival in bile salt export pump deficiency: results of a retrospective cohort study
por: Pfister, Eva-Doreen, et al.
Publicado: (2023)

Identification of Impaired Executive Functioning after Pediatric Liver Transplantation Using Two Short and Easily Applicable Tests: Cognitive Functioning Module PedsQL and Children’s Color Trail Test
por: Goldschmidt, Imeke, et al.
Publicado: (2021)

Transition after pediatric liver transplantation - Perceptions of adults, adolescents and parents
por: Junge, Norman, et al.
Publicado: (2017)

Recipient-Specific Risk Factors Impairing Patient and Graft Outcome after Pediatric Liver Transplantation—Analysis of 858 Transplantations in 38 Years
por: Leiskau, Christoph, et al.
Publicado: (2021)

Heterologous Overexpression and Mutagenesis of the Human Bile Salt Export Pump (ABCB11) Using DREAM (Directed REcombination-Assisted Mutagenesis)
por: Stindt, Jan, et al.
Publicado: (2011)

Two Sides of a Coin: Parental Disease-Specific Training as Seen by Health Care Practitioners and Parents in Pediatric Liver Transplantation
por: Ohlendorf, Johanna, et al.
Publicado: (2021)

Parental Disease Specific Knowledge and Its Impact on Health-Related Quality of Life
por: Stasch, Luisa, et al.
Publicado: (2022)

Circulating miR-21 and miR-29a as Markers of Disease Severity and Etiology in Cholestatic Pediatric Liver Disease
por: Goldschmidt, Imeke, et al.
Publicado: (2016)

The Impact of Thrombophilic Factors on Disease Progression in Children with Biliary Atresia—A Single-Centre Cohort Study
por: Ohlendorf, Johanna, et al.
Publicado: (2023)

Qualitätsmerkmale und Strukturvoraussetzungen für pädiatrische Lebertransplantationszentren
por: Melter, Michael, et al.
Publicado: (2013)

Exon-skipping and mRNA decay in human liver tissue: molecular consequences of pathogenic bile salt export pump mutations
por: Dröge, Carola, et al.
Publicado: (2016)

Pulse Wave Velocity for Risk Stratification of Patients with Aortic Aneurysm
por: Schierling, Wilma, et al.
Publicado: (2022)

Immune monitoring after pediatric liver transplantation – the prospective ChilSFree cohort study
por: Goldschmidt, Imeke, et al.
Publicado: (2018)

Analysis of the Bile Salt Export Pump (ABCB11) Interactome Employing Complementary Approaches
por: Przybylla, Susanne, et al.
Publicado: (2016)

Improvement of BMI after Lifestyle Intervention Is Associated with Normalisation of Elevated ELF Score and Liver Stiffness in Obese Children
por: Goldschmidt, Imeke, et al.
Publicado: (2015)

Role of the bile acid receptor TGR5 (Gpbar-1) in liver damage and regeneration
por: Keitel, Verena, et al.
Publicado: (2014)

Vitamin D modulates biliary fibrosis in ABCB4-deficient mice
por: Hochrath, Katrin, et al.
Publicado: (2014)

Pitfalls in Scalp High-Frequency Oscillation Detection From Long-Term EEG Monitoring
por: Gerner, Nathalie, et al.
Publicado: (2020)

Long-Term Outcome Following Liver Transplantation for Primary Hepatic Tumors—A Single Centre Observational Study over 40 Years
por: Leiskau, Christoph, et al.
Publicado: (2023)

Genetics of ABCB1 in Cancer
por: Skinner, Katie T., et al.
Publicado: (2023)

Is It Really Third Ventricle? A Pitfall in the Diagnosis of Hydrocephalus by Brain Ultrasound
por: Caricato, Anselmo, et al.
Publicado: (2020)

Upregulation of cellular glutathione levels in human ABCB5- and murine Abcb5-transfected cells
por: Kondo, Shingo, et al.
Publicado: (2015)

Influence of the Bile Acid Transporter Genes ABCB4, ABCB8, and ABCB11 and the Farnesoid X Receptor on the Response to Ursodeoxycholic Acid in Patients with Nonalcoholic Steatohepatitis
por: Kreimeyer, Henriette, et al.
Publicado: (2023)

Management of Intrahepatic Cholestasis of Pregnancy: Recommendations of the Working Group on Obstetrics and Prenatal Medicine – Section on Maternal Disorders
por: Hagenbeck, Carsten, et al.
Publicado: (2021)

The ATP-binding cassette transporters ABCB1 and ABCC1 are not regulated by hypoxia in immortalised human brain microvascular endothelial cells
por: Patak, Pauline, et al.
Publicado: (2011)

A frequent variant in the human bile salt export pump gene ABCB11 is associated with hepatitis C virus infection, but not liver stiffness in a German population
por: Müllenbach, Roman, et al.
Publicado: (2012)

Abcb1a and Abcb1b genes function differentially in blood–testis barrier dynamics in the rat
por: Su, Linlin, et al.
Publicado: (2017)

Role of Transferrin Receptor and the ABC Transporters ABCB6 and ABCB7 for Resistance and Differentiation of Tumor Cells towards Artesunate
por: Kelter, Gerhard, et al.
Publicado: (2007)

Dimeric ferrochelatase bridges ABCB7 and ABCB10 homodimers in an architecturally defined molecular complex required for heme biosynthesis
por: Maio, Nunziata, et al.
Publicado: (2019)

ABCB1 and ABCG2 Together Limit the Distribution of ABCB1/ABCG2 Substrates to the Human Retina and the ABCG2 Single Nucleotide Polymorphism Q141K (c.421C> A) May Lead to Increased Drug Exposure
por: El Biali, Myriam, et al.
Publicado: (2021)

The ABCB1 transporter gene and antidepressant response
por: Peters, Eric J, et al.
Publicado: (2009)

Molecular insights into the human ABCB6 transporter
por: Song, Guangyuan, et al.
Publicado: (2021)

The Emerging Roles of Circ-ABCB10 in Cancer
por: Huang, Zhenjun, et al.
Publicado: (2022)

Variable Intrafamilial Expression of ABCB4 Disease
por: Zampaglione, Lucia, et al.
Publicado: (2023)

Human ABCB1 with an ABCB11-like degenerate nucleotide binding site maintains transport activity by avoiding nucleotide occlusion
por: Goda, Katalin, et al.
Publicado: (2020)

Clinical phenotype of adult‐onset liver disease in patients with variants in ABCB4 , ABCB11 , and ATP8B1
por: Nayagam, Jeremy S., et al.
Publicado: (2022)

People with chronic ankle instability benefit from brace application in highly dynamic change of direction movements
por: Fuerst, Patrick, et al.
Publicado: (2021)

Bifidobacteria shape antimicrobial T-helper cell responses during infancy and adulthood
por: Vogel, Katrin, et al.
Publicado: (2023)

Selected ABCB1, ABCB4 and ABCC2 Polymorphisms Do Not Enhance the Risk of Drug-Induced Hepatotoxicity in a Spanish Cohort
por: Ulzurrun, Eugenia, et al.
Publicado: (2014)

Cannot write session to /tmp/vufind_sessions/sess_kmodvv7fghpji8nhgnf772h43j