203 related articles for article (PubMed ID: 24594635)
1. Functional analysis of ABCB4 mutations relates clinical outcomes of progressive familial intrahepatic cholestasis type 3 to the degree of MDR3 floppase activity.
Gordo-Gilart R; Andueza S; Hierro L; Martínez-Fernández P; D'Agostino D; Jara P; Alvarez L
Gut; 2015 Jan; 64(1):147-55. PubMed ID: 24594635
[TBL] [Abstract][Full Text] [Related]
2. The spectrum of liver diseases related to ABCB4 gene mutations: pathophysiology and clinical aspects.
Davit-Spraul A; Gonzales E; Baussan C; Jacquemin E
Semin Liver Dis; 2010 May; 30(2):134-46. PubMed ID: 20422496
[TBL] [Abstract][Full Text] [Related]
3. Heterozygous ABCB4 mutations in children with cholestatic liver disease.
Gordo-Gilart R; Hierro L; Andueza S; Muñoz-Bartolo G; López C; Díaz C; Jara P; Álvarez L
Liver Int; 2016 Feb; 36(2):258-67. PubMed ID: 26153658
[TBL] [Abstract][Full Text] [Related]
4. A missense mutation in ABCB4 gene involved in progressive familial intrahepatic cholestasis type 3 leads to a folding defect that can be rescued by low temperature.
Delaunay JL; Durand-Schneider AM; Delautier D; Rada A; Gautherot J; Jacquemin E; Aït-Slimane T; Maurice M
Hepatology; 2009 Apr; 49(4):1218-27. PubMed ID: 19185004
[TBL] [Abstract][Full Text] [Related]
5. Reversal of advanced fibrosis after long-term ursodeoxycholic acid therapy in a patient with residual expression of MDR3.
Frider B; Castillo A; Gordo-Gilart R; Bruno A; Amante M; Alvarez L; Mathet V
Ann Hepatol; 2015; 14(5):745-51. PubMed ID: 26256905
[TBL] [Abstract][Full Text] [Related]
6. ABCB4 mutations in adult patients with cholestatic liver disease: impact and phenotypic expression.
Degiorgio D; Crosignani A; Colombo C; Bordo D; Zuin M; Vassallo E; Syrén ML; Coviello DA; Battezzati PM
J Gastroenterol; 2016 Mar; 51(3):271-80. PubMed ID: 26324191
[TBL] [Abstract][Full Text] [Related]
7. ABCB4 heterozygous gene mutations associated with fibrosing cholestatic liver disease in adults.
Ziol M; Barbu V; Rosmorduc O; Frassati-Biaggi A; Barget N; Hermelin B; Scheffer GL; Bennouna S; Trinchet JC; Beaugrand M; Ganne-Carrié N
Gastroenterology; 2008 Jul; 135(1):131-41. PubMed ID: 18482588
[TBL] [Abstract][Full Text] [Related]
8. Functional characterization of ABCB4 mutations found in progressive familial intrahepatic cholestasis type 3.
Park HJ; Kim TH; Kim SW; Noh SH; Cho KJ; Choi C; Kwon EY; Choi YJ; Gee HY; Choi JH
Sci Rep; 2016 Jun; 6():26872. PubMed ID: 27256251
[TBL] [Abstract][Full Text] [Related]
9. In silico investigation of the impact of synonymous variants in ABCB4 gene on mRNA stability/structure, splicing accuracy and codon usage: Potential contribution to PFIC3 disease.
Khabou B; Siala-Sahnoun O; Gargouri L; Mkaouar-Rebai E; Keskes L; Hachicha M; Fakhfakh F
Comput Biol Chem; 2016 Dec; 65():103-109. PubMed ID: 27788395
[TBL] [Abstract][Full Text] [Related]
10. Molecular characterization of exons 6, 8 and 9 of ABCB4 gene in children with Progressive Familial Intrahepatic Cholestasis type 3.
Fathy M; Kamal M; Al-Sharkawy M; Al-Karaksy H; Hassan N
Biomarkers; 2016 Nov; 21(7):573-7. PubMed ID: 27075526
[TBL] [Abstract][Full Text] [Related]
11. Clinical features and genotype-phenotype correlations in children with progressive familial intrahepatic cholestasis type 3 related to ABCB4 mutations.
Colombo C; Vajro P; Degiorgio D; Coviello DA; Costantino L; Tornillo L; Motta V; Consonni D; Maggiore G;
J Pediatr Gastroenterol Nutr; 2011 Jan; 52(1):73-83. PubMed ID: 21119540
[TBL] [Abstract][Full Text] [Related]
12. Cholestatic liver diseases from child to adult: the diversity of MDR3 disease.
Kubitz R; Bode J; Erhardt A; Graf D; Kircheis G; Müller-Stöver I; Reinehr R; Reuter S; Richter J; Sagir A; Schmitt M; Donner M
Z Gastroenterol; 2011 Jun; 49(6):728-36. PubMed ID: 21638239
[TBL] [Abstract][Full Text] [Related]
13. Molecular characterization and structural implications of 25 new ABCB4 mutations in progressive familial intrahepatic cholestasis type 3 (PFIC3).
Degiorgio D; Colombo C; Seia M; Porcaro L; Costantino L; Zazzeron L; Bordo D; Coviello DA
Eur J Hum Genet; 2007 Dec; 15(12):1230-8. PubMed ID: 17726488
[TBL] [Abstract][Full Text] [Related]
14. Role of multidrug resistance 3 deficiency in pediatric and adult liver disease: one gene for three diseases.
Jacquemin E
Semin Liver Dis; 2001 Nov; 21(4):551-62. PubMed ID: 11745043
[TBL] [Abstract][Full Text] [Related]
15. ABCB4: Insights from pathobiology into therapy.
Falguières T; Aït-Slimane T; Housset C; Maurice M
Clin Res Hepatol Gastroenterol; 2014 Oct; 38(5):557-63. PubMed ID: 24953525
[TBL] [Abstract][Full Text] [Related]
16. The histidine-loop is essential for transport activity of human MDR3. A novel mutation of MDR3 in a patient with progressive familial intrahepatic cholestasis type 3.
Dzagania T; Engelmann G; Häussinger D; Schmitt L; Flechtenmacher C; Rtskhiladze I; Kubitz R
Gene; 2012 Sep; 506(1):141-5. PubMed ID: 22766396
[TBL] [Abstract][Full Text] [Related]
17. Chinese children with chronic intrahepatic cholestasis and high γ-glutamyl transpeptidase: clinical features and association with ABCB4 mutations.
Fang LJ; Wang XH; Knisely AS; Yu H; Lu Y; Liu LY; Wang JS
J Pediatr Gastroenterol Nutr; 2012 Aug; 55(2):150-6. PubMed ID: 22343912
[TBL] [Abstract][Full Text] [Related]
18. The wide spectrum of multidrug resistance 3 deficiency: from neonatal cholestasis to cirrhosis of adulthood.
Jacquemin E; De Vree JM; Cresteil D; Sokal EM; Sturm E; Dumont M; Scheffer GL; Paul M; Burdelski M; Bosma PJ; Bernard O; Hadchouel M; Elferink RP
Gastroenterology; 2001 May; 120(6):1448-58. PubMed ID: 11313315
[TBL] [Abstract][Full Text] [Related]
19. Heterozygous MDR3 missense mutation associated with intrahepatic cholestasis of pregnancy: evidence for a defect in protein trafficking.
Dixon PH; Weerasekera N; Linton KJ; Donaldson O; Chambers J; Egginton E; Weaver J; Nelson-Piercy C; de Swiet M; Warnes G; Elias E; Higgins CF; Johnston DG; McCarthy MI; Williamson C
Hum Mol Genet; 2000 May; 9(8):1209-17. PubMed ID: 10767346
[TBL] [Abstract][Full Text] [Related]
20. Phenotypic variability in Tunisian PFIC3 patients harboring a complex genotype with a differential clinical outcome of UDCA treatment.
Khabou B; Mahjoub B; Barbu V; Balhoudi N; Wardani A; Sfar MT; Fakhfakh F
Clin Chim Acta; 2018 Nov; 486():122-128. PubMed ID: 30036524
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
