151 related articles for article (PubMed ID: 27075526)
1. 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]
2. 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]
3. 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]
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. Combined features of low phospholipid-associated cholelithiasis and progressive familial intrahepatic cholestasis 3.
Poupon R; Barbu V; Chamouard P; Wendum D; Rosmorduc O; Housset C
Liver Int; 2010 Feb; 30(2):327-31. PubMed ID: 19840255
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. 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]
8. 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]
9. Novel mutation in a Chinese patient with progressive familial intrahepatic cholestasis type 3.
Sun HZ; Shi H; Zhang SC; Shen XZ
World J Gastroenterol; 2015 Jan; 21(2):699-703. PubMed ID: 25593501
[TBL] [Abstract][Full Text] [Related]
10. Novel ABCB4 mutation in a Chinese female patient with progressive familial intrahepatic cholestasis type 3: a case report.
Wu Z; Zhang S; Zhang L; Li M
Diagn Pathol; 2020 Apr; 15(1):39. PubMed ID: 32321542
[TBL] [Abstract][Full Text] [Related]
11. A female of progressive familial intrahepatic cholestasis type 3 caused by heterozygous mutations of ABCB4 gene and her cirrhosis improved after treatment of ursodeoxycholic acid: a case report.
Qiao F; Ren F; Lu W; Yang H; Mo G; Wang S; Liu L; Xu X
BMC Med Genomics; 2023 Jul; 16(1):171. PubMed ID: 37488596
[TBL] [Abstract][Full Text] [Related]
12. Evaluation of a Novel Missense Mutation in
Saleem K; Cui Q; Zaib T; Zhu S; Qin Q; Wang Y; Dam J; Ji W; Liu P; Jia X; Wu J; Bai J; Fu S; Sun W
Dis Markers; 2020; 2020():6292818. PubMed ID: 32626542
[TBL] [Abstract][Full Text] [Related]
13. Hepatobiliary phospholipid transporter ABCB4, MDR3 gene variants in a large cohort of Italian women with intrahepatic cholestasis of pregnancy.
Floreani A; Carderi I; Paternoster D; Soardo G; Azzaroli F; Esposito W; Montagnani M; Marchesoni D; Variola A; Rosa Rizzotto E; Braghin C; Mazzella G
Dig Liver Dis; 2008 May; 40(5):366-70. PubMed ID: 18083082
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. 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]
16. A study of exons 14, 15, and 24 of the ABCB11 gene in Egyptian children with normal GGT cholestasis.
Selim N; Omair H; El-Karaksy H; Fathy M; Mahmoud E; Baroudy S; Fathy M; Yassin N
Arab J Gastroenterol; 2022 Feb; 23(1):15-19. PubMed ID: 35153175
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. ABCB4 gene mutations and single-nucleotide polymorphisms in women with intrahepatic cholestasis of pregnancy.
Bacq Y; Gendrot C; Perrotin F; Lefrou L; Chrétien S; Vie-Buret V; Brechot MC; Andres CR
J Med Genet; 2009 Oct; 46(10):711-5. PubMed ID: 19584064
[TBL] [Abstract][Full Text] [Related]
19. A new splicing site mutation of the ABCB4 gene in intrahepatic cholestasis of pregnancy with raised serum gamma-GT.
Tavian D; Degiorgio D; Roncaglia N; Vergani P; Cameroni I; Colombo R; Coviello DA
Dig Liver Dis; 2009 Sep; 41(9):671-5. PubMed ID: 19261551
[TBL] [Abstract][Full Text] [Related]
20. ATP8B1, ABCB11, and ABCB4 Genes Defects: Novel Mutations Associated with Cholestasis with Different Phenotypes and Outcomes.
Al-Hussaini A; Lone K; Bashir MS; Alrashidi S; Fagih M; Alanazi A; AlYaseen S; Almayouf A; Alruwaithi M; Asery A
J Pediatr; 2021 Sep; 236():113-123.e2. PubMed ID: 33915153
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
