Detalhe da pesquisa
1.
Molecular and computational characterization of ABCB11 and ABCG5 variants in Tunisian patients with neonatal/infantile low-GGT intrahepatic cholestasis: Genetic diagnosis and genotype-phenotype correlation assessment.
Ann Hum Genet
; 88(3): 194-211, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38108658
2.
Genetic contribution of ABCC2 to Dubin-Johnson syndrome and inherited cholestatic disorders.
Liver Int
; 40(1): 163-174, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31544333
3.
Clinical characteristics and genetic profiles of young and adult patients with cholestatic liver disease.
Rev Esp Enferm Dig
; 111(10): 775-788, 2019 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-31538484
4.
Expanding the mutational spectrum of the ABCB4 gene in inherited adult cholestatic liver disorders with four novel pathogenic variants.
Rev Esp Enferm Dig
; 111(1): 76-79, 2019 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-30449124
5.
Functional defect of variants in the adenosine triphosphate-binding sites of ABCB4 and their rescue by the cystic fibrosis transmembrane conductance regulator potentiator, ivacaftor (VX-770).
Hepatology
; 65(2): 560-570, 2017 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28012258
6.
Portal myofibroblasts promote vascular remodeling underlying cirrhosis formation through the release of microparticles.
Hepatology
; 61(3): 1041-55, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25043701
7.
Phosphorylation of ABCB4 impacts its function: insights from disease-causing mutations.
Hepatology
; 60(2): 610-21, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-24723470
8.
Intrahepatic Cholestasis Owing to a Novel Heterozygous ABCG8 Mutation and SLC4A2 Polymorphism With Favorable Outcome Under Ursodeoxycholic Acid.
Am J Gastroenterol
; 114(9): 1556-1559, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31335361
9.
Genotype-phenotype relationships in the low-phospholipid-associated cholelithiasis syndrome: a study of 156 consecutive patients.
Hepatology
; 58(3): 1105-10, 2013 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-23533021
10.
Editorial: Genetics of cholangiopathies.
Curr Opin Gastroenterol
; 35(2): 63-64, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30624246
11.
Epimutation of the telomeric imprinting center region on chromosome 11p15 in Silver-Russell syndrome.
Nat Genet
; 37(9): 1003-7, 2005 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-16086014
12.
LPAC syndrome associated with deletion of the full exon 4 in a ABCB4 genetic mutation in a patient with hepatitis C.
Rev Esp Enferm Dig
; 106(8): 544-7, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25544413
13.
Connecting dysbiosis, bile-acid dysmetabolism and gut inflammation in inflammatory bowel diseases.
Gut
; 62(4): 531-9, 2013 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-22993202
14.
Defects in gallbladder emptying and bile Acid homeostasis in mice with cystic fibrosis transmembrane conductance regulator deficiencies.
Gastroenterology
; 142(7): 1581-91.e6, 2012 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-22370478
15.
Epidermal growth factor receptor and HER-3 restrict cell response to sorafenib in hepatocellular carcinoma cells.
J Hepatol
; 57(1): 108-15, 2012 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-22414764
16.
A BCB4 variant is associated with hepatobiliary MR abnormalities in people with low-phospholipid-associated cholelithiasis syndrome.
JHEP Rep
; 4(11): 100590, 2022 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-36277956
17.
Characterization of a novel ABCC2 mutation in infantile Dubin Johnson syndrome.
Clin Chim Acta
; 518: 43-50, 2021 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-33713692
18.
Low-phospholipid-associated cholelithiasis syndrome: Prevalence, clinical features, and comorbidities.
JHEP Rep
; 3(2): 100201, 2021 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-33554096
19.
Ezrin-radixin-moesin-binding phosphoprotein (EBP50), an estrogen-inducible scaffold protein, contributes to biliary epithelial cell proliferation.
Am J Pathol
; 174(3): 869-80, 2009 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-19234136
20.
Combined features of low phospholipid-associated cholelithiasis and progressive familial intrahepatic cholestasis 3.
Liver Int
; 30(2): 327-31, 2010 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-19840255