Keywords: Cholestasis; Genetics; Bile acids; Pediatrics; PFIC;
مقالات ISI (ترجمه نشده)
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Keywords: AC; Amsterdam criteria; AFAP; attenuated familial adenomatous polyposis; APC; adenomatous polyposis coli; CAP; College of American Pathologists; CD; Crohn disease; CLIA; Clinical Laboratory Improvement Amendments; CRC; colorectal cancer; dMMR; deficient m
Keywords: Drug interactions; Hepatic transport; Transporters; ABC transporters; Bile acid transporters; BSEP; bile salt export pump; DILI; drug-induced liver injury; FXR; farnesoid X receptor; MDR; multidrug resistance protein; MRP; multidrug resistance-associated
Keywords: ALGS; Alagille syndrome; ALT; Alanine aminotransferase; AR; Autosomal-recessive inheritance; AST; Aspartate aminotransferase; BRIC; Benign recurrent intrahepatic cholestasis; CNV; Copy number variation; D.Bil; Direct bilirubin; DJS; Dubin-Johnson syndrome
Keywords: ALGS; Alagille syndrome; BARD; Biliary Atresia and Related Diseases; PFIC; Progressive Familial Intrahepatic Cholestasis; KPE; Kasai hepatoportoenterostomy; NeSBAR; Netherlands Study group for Biliary Atresia Registry; ChiLDReN; Childhood Liver Disease Re
Keywords: Next generation sequencing; Infantile cholestasis; PFIC; Niemann-Pick-syndrome; PKHD1; Hepatic fibrosis; Massive parallel sequencing;
Keywords: LPAC; low phospholipid associated cholelithiasis; PFIC; progressive familial intrahepatic cholestasis; UDCA; ursodeoxycholic acid therapy; ABCB4 gene; ABCB11 gene; Protein MDR3; Ursodeoxycholic acid therapy;
Keywords: AH; ancestral haplotype; AMA; antimitochondrial antibodies; GGT; γ-glutamyltransferase; GWAS; genome-wide association studies; IBD; inflammatory bowel disease; IL; interleukin; LPAC; low phospholipid-associated cholelithiasis; MHC; major histocompatibili
Evaluation of vitamin D status bone mineral density and dental health in children with cholestasis
Keywords: CLD; DXA scan; BMD; BMC; 25(OH)D; PFIC;
Subclinical Atherosclerosis in Pediatric Liver Transplant Recipients: Carotid and Aorta Intima-Media Thickness and Their Predictors
Keywords: liver transplantation; cardiovascular risk; atherosclerosis; metabolic syndrome; children; aIMT; Aortic intima-media thickness; BMI; Body mass index; cIMT; Carotid intima-media thickness; HDL; High-density lipoprotein; LDL; Low-density lipoprotein; LMS; L
Assessment of ATP8B1 Deficiency in Pediatric Patients With Cholestasis Using Peripheral Blood Monocyte-Derived Macrophages
Keywords: Pediatric liver disease; Diagnosis; Progressive familial intrahepatic cholestasis; ACTB; β-actin; BSEP; bile salt export pump; GGT; gamma-glutamyl transferase; HA; hemagglutinin; HBV; hepatitis B virus; HCV; hepatitis C virus; HMDM; human peripheral bloo
Nuclear receptor FXR, bile acids and liver damage: Introducing the progressive familial intrahepatic cholestasis with FXR mutations
Keywords: NR; nuclear receptor; FXR; farnesoid X receptor; RXR; retinoid X receptor; PXR; pregnane X receptor; VDR; Vitamin D receptor; TGR5; G protein-coupled bile acid receptor; Lrh1; liver receptor homolog 1; Mdr; multidrug resistance protein; Abcb4; ATP Bindi
Genetic determinants of cholangiopathies: Molecular and systems genetics
Keywords: AP; alkaline phosphatase; ASBT; apical sodium bile acid transporter; BRIC; benign recurrent intrahepatic cholestasis; CC; collaborative cross; DILI; drug-induced liver injury; ɣ-GT; ɣ-glutamyl transpeptidase; GRP; genetic reference populations; GWAS; ge
Baps PaperOutcomes following partial external biliary diversion in patients with progressive familial intrahepatic cholestasis
Keywords: PFIC; Progressive familial intrahepatic cholestasis; PEBD; Partial external biliary diversion; IB; Internal bypass; BA; Bile acids; LT; Liver transplantation; Progressive familial intrahepatic cholestasis (PFIC) C; Partial external biliary drainage; Bile
Real-time two-dimensional Shear-wave elastography for liver stiffness in children: Interobserver variation and effect of breathing technique
Keywords: 2D-SWE; two-dimensional shear-wave elastography; LS; liver stiffness; SD; standard deviation; ICC; intraclass correlation coefficient; CI; confidence interval; PFIC; progressive familiar intrahepatic cholestasis; Ultrasound; Elastography; Liver; Reproduci
Sequencing of FIC1, BSEP and MDR3 in a large cohort of patients with cholestasis revealed a high number of different genetic variants
Keywords: FIC1; BSEP; MDR3; ATP8B1; ABCB11; ABCB4; ICP; LPAC; BRIC; PFIC; SNP;
Targeted pharmacotherapies for defective ABC transporters
Keywords: 4-PBA; 4-phenylbutyrate; ABC; ATP-Binding Cassette; BRIC2; Benign Recurrent Intrahepatic Cholestasis type 2; BSEP; Bile Salt Export Pump; CF; Cystic Fibrosis; CFTR; Cystic Fibrosis Transmembrane conductance Regulator; CsA; Cyclosporin A; DMSO; DiMethylSul
Research ArticleRescue of defective ATP8B1 trafficking by CFTR correctors as a therapeutic strategy for familial intrahepatic cholestasis
Keywords: CFTR; cystic fibrosis transmembrane conductance regulator; 4-PBA; 4-phenyl butyric acid; SAHA; suberoylanilide hydroxamic acid; NB-DNJ; N-butyldeoxynojirimycin; BRIC; benign recurrent intrahepatic cholestasis; PFIC; progressive familial intrahepatic chole
Hepatobiliary physiological changes after Roux-en-Y cholecysto-colonic diversion
Keywords: Cholecystocolonic bypass; PFIC; Biliary diversion;
The histidin-loop is essential for transport activity of human MDR3. A novel mutation of MDR3 in a patient with progressive familial intrahepatic cholestasis type 3
Keywords: MDR3; multi drug resistance protein 3; PFIC; progressive familial intrahepatic cholestasis; GGT; gamma-glutamyltransferase; WBC; white blood cell Count; HAV; HBV, and HCV, Hepatitis A, B and C; TSH; thyroid stimulating hormon; BSEP; bile salt export pump;
Button cholecystostomy for management of progressive familial intrahepatic cholestasis syndromes
Keywords: PFIC; Progressive familial intrahepatic cholestasis; Byler disease; Cholecystostomy;
Short- and medium-chain fatty acids enhance the cell surface expression and transport capacity of the bile salt export pump (BSEP/ABCB11)
Keywords: BCRP; Breast cancer resistance protein; BSEP/Bsep; human/rat isoforms of the bile salt export pump; BRIC; benign recurrent intrahepatic cholestasis; CF/CFTR; cystic fibrosis/cystic fibrosis transmembrane conductance regulator; EGFR; epidermal growth facto
Differences in presentation and progression between severe FIC1 and BSEP deficiencies
Keywords: ABCB11; ATP binding cassette, sub-family B, member 11; ALP; alkaline phosphatase; ALT; alanine aminotransferase; AROC; area under the ROC (receiver operating characteristic) curve; AST; aspartate aminotransferase; ATP8B1; ATPase, class I, type 8B, member
Familial cholestasis: Progressive familial intrahepatic cholestasis, benign recurrent intrahepatic cholestasis and intrahepatic cholestasis of pregnancy
Keywords: Progressive familial intrahepatic cholestasis; PFIC; Benign recurrent intrahepatic cholestasis; BRIC; Intrahepatic cholestasis of pregnancy; ICP; ATP8B1; ABCB11; ABCB4
ReviewLiver disease associated with canalicular transport defects: Current and future therapies
Keywords: ABC; adenosine triphosphate-binding-cassette; PC; phosphatidylcholine; PS; phosphatidylserine; PFIC; progressive familial intrahepatic cholestasis; BRIC; benign recurrent intrahepatic cholestasis; GGT; gamma-glutamyl transpeptidase; ICP; intrahepatic chol
Diagnosis of BSEP/ABCB11 Mutations in Asian Patients with Cholestasis Using Denaturing High Performance Liquid Chromatography
Keywords: BRIC; Benign recurrent intrahepatic cholestasis; BSEP; Bile salt export pump; DHPLC; Denaturing high performance liquid chromatography; PFIC; Progressive familial intrahepatic cholestasis;
Bile acids and signal transduction: Role in glucose homeostasis
Keywords: CDCA; chenodeoxycholic acid (3α,7α-dihydroxy-5β cholan-24-oic acid); CA; cholic acid (3α,7α,12α-trihydroxy-5β cholan-24-oic acid); DCA; deoxycholic acid (3α,12α-dihydroxy-5β cholan-24-oic acid); LCA; lithocholic acid (3α-monohydroxy-5β cholan-
Diagnosis and Management of Cholestatic Liver Disease
Keywords: AMA; antimitochondrial antibodies; BSEP; bile salt export pump; CFTR; cystic fibrosis transmembrane regulator; ERCP; endoscopic retrograde cholangiopancreatography; GGT; γ-glutamyltranspeptidase; ICP; intrahepatic cholestasis of pregnancy; MDR3; human mu
Hepatitic inherited metabolic disorders
Keywords: Hepatitis; Neonatal hepatitis; Alpha-1-antitrypsin deficiency; Wilson disease; PFIC; Cystic fibrosis
Risk of hepatocellular carcinoma in liver mitochondrial respiratory chain disorders
Keywords: AFP; α-fetoprotein; HCC; hepatocellular carcinoma; MRCD; Mitochondrial respiratory chain disorders; mt-DNA; Mitochondrial DNA; NV; Normal value; OLT; Orthotopic liver transplant; PFIC; Progressive familial intrahepatic cholestasis;
Evaluation of risk for atherosclerosis in Alagille syndrome and progressive familial intrahepatic cholestasis: Two congenital cholestatic diseases with different lipoprotein metabolisms
Keywords: AGS; Alagille syndrome; c-IMT; Intimal-medial thickness of common carotid artery; c-WS; Artery wall stiffness of common carotid artery; FH; Familial hypercholesterolemia; LpX; Lipoprotein X; MDA; Malondialdehyde; Ox LDL; Oxidized LDL; PFIC; Progressive fa
Transport by vesicles of glycine- and taurine-conjugated bile salts and taurolithocholate 3-sulfate: A comparison of human BSEP with rat Bsep
Keywords: BSEP/Bsep; human/rat isoforms of the bile salt export pump; hMRP2/rMrp2; human/rat isoforms of multidrug resistance associated protein 2; hNTCP/rNtcp; human/rat isoforms of Na+-taurocholate co-transporting polypeptide; hOATP/rOatp; human/rat isoforms of o