Mutations in the nuclear bile acid receptor FXR cause progressive familial intrahepatic cholestasis
about
Recent advances in understanding and managing cholestasisGeneration of a bile salt export pump deficiency model using patient-specific induced pluripotent stem cell-derived hepatocyte-like cellsNuclear receptors as pharmacological targets, where are we now?Bile acid homeostasis controls CAR signaling pathways in mouse testis through FXRalpha.New therapeutic concepts in bile acid transport and signaling for management of cholestasis.Defects in myosin VB are associated with a spectrum of previously undiagnosed low γ-glutamyltransferase cholestasisNutrient-sensing nuclear receptors PPARα and FXR control liver energy balance.Genetic disorders of nuclear receptors.A Specially Designed Multi-Gene Panel Facilitates Genetic Diagnosis in Children with Intrahepatic Cholestasis: Simultaneous Test of Known Large Insertions/Deletions.MYO5B mutations cause cholestasis with normal serum gamma-glutamyl transferase activity in children without microvillous inclusion disease.An expanded role for heterozygous mutations of ABCB4, ABCB11, ATP8B1, ABCC2 and TJP2 in intrahepatic cholestasis of pregnancy.The logic of transcriptional regulator recruitment architecture at cis-regulatory modules controlling liver functions.Cryptogenic cholestasis in young and adults: ATP8B1, ABCB11, ABCB4, and TJP2 gene variants analysis by high-throughput sequencing.Bile acid metabolism in liver pathobiology.[Liver biopsy in children and adolescents : Preliminary morphological examinations in diffuse liver disease].Unexplained cholestasis in adults and adolescents: diagnostic benefit of genetic examination.Transcriptional profiling of liver in riboflavin-deficient chicken embryos explains impaired lipid utilization, energy depletion, massive hemorrhaging, and delayed feathering.Postprandial FGF19-induced phosphorylation by Src is critical for FXR function in bile acid homeostasis.A rare missense variant in associates with lower cholesterol levelsNew Insights in Genetic Cholestasis: From Molecular Mechanisms to Clinical ImplicationsVariants Associated with Infantile Cholestatic Syndromes Detected in Extrahepatic Biliary Atresia by Whole Exome Studies: A 20-Case Series from ThailandJaundice revisited: recent advances in the diagnosis and treatment of inherited cholestatic liver diseasesProgressive familial intrahepatic cholestasis: diagnosis, management, and treatment
P2860
Q26748537-FAA3489E-4ED9-4D01-B1D2-EB3CA34A11D5Q37620655-9A5749E6-4EB3-438D-A934-C2AD5C75A8F2Q38923123-E4EC0554-A370-4B1D-9BBD-DA34848A8249Q38970278-A4375ED3-7EBE-42FE-8178-C0332240D92EQ39044702-7F162877-480A-4912-9C96-FE5756C6ECB6Q39058928-6E2ABB0C-8207-438C-8CA2-9745CA37E5CDQ39175937-519672E2-1855-4AF9-8722-EA8EDC36E6B4Q39214888-EAF8D898-0D51-4A6A-9234-5D8892E3DA13Q39320518-6AC78052-7792-4355-996B-9F388336D418Q39482657-2FC268A7-B3B5-4171-9C32-0C16762EE19FQ41717825-2C482161-62AB-42B2-9C02-373126DF6FFDQ45054466-E5E2AF28-6E94-4156-BFBB-77AEB9E356F6Q47295327-F8813642-7745-4032-B13D-EBB399E99B17Q47645986-22159A6D-94E1-4AEF-9190-0AC7C90AA143Q50166499-0B27FD49-694C-48A8-97A3-FBD4C0730348Q50166616-20D14FE7-C380-4DD7-944E-8AB5303EC4CAQ52673575-B1683B73-D7F5-4F45-87CF-2577060B0864Q55518318-D927EDDF-8DC9-48B6-9C97-70907657D9BAQ56932055-3B3E83D6-284C-4511-A211-542283317EBCQ57114068-BDB1A459-7286-4936-A929-6DFD5C51BDA4Q57118417-777E21A8-85C7-4060-86BF-EDC5204CC503Q58114687-5ECE8865-1028-43B6-B2C6-65C13845F499Q58754600-68B28772-65C5-4FC9-9049-120CFF14D956
P2860
Mutations in the nuclear bile acid receptor FXR cause progressive familial intrahepatic cholestasis
description
2016 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2016 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
article publié dans Nature Communications
@fr
artículu científicu espublizáu en 2016
@ast
im Februar 2016 veröffentlichter wissenschaftlicher Artikel
@de
scientific journal article
@en
vedecký článok (publikovaný 2016/02/18)
@sk
vědecký článek publikovaný v roce 2016
@cs
wetenschappelijk artikel (gepubliceerd op 2016/02/18)
@nl
наукова стаття, опублікована в лютому 2016
@uk
name
Mutations in the nuclear bile ...... ilial intrahepatic cholestasis
@ast
Mutations in the nuclear bile ...... ilial intrahepatic cholestasis
@en
Mutations in the nuclear bile ...... ilial intrahepatic cholestasis
@nl
type
label
Mutations in the nuclear bile ...... ilial intrahepatic cholestasis
@ast
Mutations in the nuclear bile ...... ilial intrahepatic cholestasis
@en
Mutations in the nuclear bile ...... ilial intrahepatic cholestasis
@nl
prefLabel
Mutations in the nuclear bile ...... ilial intrahepatic cholestasis
@ast
Mutations in the nuclear bile ...... ilial intrahepatic cholestasis
@en
Mutations in the nuclear bile ...... ilial intrahepatic cholestasis
@nl
P2093
P2860
P3181
P356
P1476
Mutations in the nuclear bile ...... ilial intrahepatic cholestasis
@en
P2093
A. S. Knisely
Benjamin L. Shneider
Carol J. Potter
Christine M. Eng
David D. Moore
Donna M. Muzny
Gabriel C. Washington
Gregory M. Enns
Jennifer L. Picarsic
P2860
P2888
P3181
P356
10.1038/NCOMMS10713
P407
P577
2016-02-18T00:00:00Z
P5875
P6179
1008349859