Detalhe da pesquisa
1.
Functional characterization of novel or yet uncharacterized ATP7B missense variants detected in patients with clinical Wilson's disease.
Clin Genet
; 104(2): 174-185, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37157876
2.
Biallelic known and novel DCDC2 variants in cholestatic liver disease: Phenotype-genotype observations in four children.
Liver Int
; 43(5): 1089-1095, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36938759
3.
KIF12 Variants and Disturbed Hepatocyte Polarity in Children with a Phenotypic Spectrum of Cholestatic Liver Disease.
J Pediatr
; 240: 284-291.e9, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34555379
4.
MiR-129-5p exerts Wnt signaling-dependent tumor-suppressive functions in hepatocellular carcinoma by directly targeting hepatoma-derived growth factor HDGF.
Cancer Cell Int
; 22(1): 192, 2022 May 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-35578240
5.
Extrahepatic manifestations of progressive familial intrahepatic cholestasis syndromes: Presentation of a case series and literature review.
Liver Int
; 42(5): 1084-1096, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35184362
6.
MicroRNA-449a Inhibits Triple Negative Breast Cancer by Disturbing DNA Repair and Chromatid Separation.
Int J Mol Sci
; 23(9)2022 May 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35563522
7.
MicroRNA-192-5p inhibits migration of triple negative breast cancer cells and directly regulates Rho GTPase activating protein 19.
Genes Chromosomes Cancer
; 60(11): 733-742, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34296808
8.
Dubin-Johnson Syndrome as Differential Diagnosis for Neonatal Cholestasis.
J Pediatr Gastroenterol Nutr
; 72(5): e105-e111, 2021 05 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33534365
9.
MTF1 binds to metal-responsive element e within the ATP7B promoter and is a strong candidate in regulating the ATP7B expression.
Ann Hum Genet
; 84(2): 195-200, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31596515
10.
Functional characterization of a JAG1 5'UTR variant in a patient with clinically observed Alagille syndrome.
Clin Genet
; 102(3): 248-250, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35761784
11.
Mild Crigler-Najjar Syndrome with Progressive Liver Disease-A Multicenter Retrospective Cohort Study.
Children (Basel)
; 10(9)2023 Aug 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-37761392
12.
Native liver survival in bile salt export pump deficiency: results of a retrospective cohort study.
Hepatol Commun
; 7(4)2023 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36995996
13.
Cell-based BSEP trans-inhibition: A novel, non-invasive test for diagnosis of antibody-induced BSEP deficiency.
JHEP Rep
; 5(7): 100690, 2023 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-37425215
14.
Vasor: Accurate prediction of variant effects for amino acid substitutions in multidrug resistance protein 3.
Hepatol Commun
; 6(11): 3098-3111, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36111625
15.
Ago-RIP Sequencing Identifies New MicroRNA-449a-5p Target Genes Increasing Sorafenib Efficacy in Hepatocellular Carcinoma.
J Cancer
; 13(1): 62-75, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-34976171
16.
Wnt status-dependent oncogenic role of BCL9 and BCL9L in hepatocellular carcinoma.
Hepatol Int
; 14(3): 373-384, 2020 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-31440992
17.
Homozygous frame shift variant in ATP7B exon 1 leads to bypass of nonsense-mediated mRNA decay and to a protein capable of copper export.
Eur J Hum Genet
; 27(6): 879-887, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30723317
18.
Comparing two conventional methods of emulsion PCR and optimizing of Tegosoft-based emulsion PCR.
Eng Life Sci
; 17(8): 953-958, 2017 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-32624844