164 related articles for article (PubMed ID: 35490150)
1. Antisense oligonucleotides rescue an intronic splicing variant in the ABCB11 gene that causes progressive familial intrahepatic cholestasis type 2.
Zheng Y; Zhou C; Zheng B; Hu G; Wang C; Zhou W; Lu Y; Zhang Z; Lin Q; Guo H; Jin Y; Liu Z; Tang W
Dig Liver Dis; 2022 Nov; 54(11):1541-1547. PubMed ID: 35490150
[TBL] [Abstract][Full Text] [Related]
2. Liver transcript analysis reveals aberrant splicing due to silent and intronic variations in the ABCB11 gene.
Davit-Spraul A; Oliveira C; Gonzales E; Gaignard P; Thérond P; Jacquemin E
Mol Genet Metab; 2014 Nov; 113(3):225-9. PubMed ID: 25085279
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. Impaired expression and function of the bile salt export pump due to three novel ABCB11 mutations in intrahepatic cholestasis.
Noe J; Kullak-Ublick GA; Jochum W; Stieger B; Kerb R; Haberl M; Müllhaupt B; Meier PJ; Pauli-Magnus C
J Hepatol; 2005 Sep; 43(3):536-43. PubMed ID: 16039748
[TBL] [Abstract][Full Text] [Related]
5. ABCB11 gene mutations in Chinese children with progressive intrahepatic cholestasis and low gamma glutamyltransferase.
Liu LY; Wang ZL; Wang XH; Zhu QR; Wang JS
Liver Int; 2010 Jul; 30(6):809-15. PubMed ID: 19845854
[TBL] [Abstract][Full Text] [Related]
6. In vitro functional rescue by ivacaftor of an ABCB11 variant involved in PFIC2 and intrahepatic cholestasis of pregnancy.
Mareux E; Lapalus M; Ben-Saad A; Callebaut I; Falguières T; Gonzales E; Jacquemin E
Orphanet J Rare Dis; 2021 Nov; 16(1):484. PubMed ID: 34794484
[TBL] [Abstract][Full Text] [Related]
7. ATP8B1 and ABCB11 analysis in 62 children with normal gamma-glutamyl transferase progressive familial intrahepatic cholestasis (PFIC): phenotypic differences between PFIC1 and PFIC2 and natural history.
Davit-Spraul A; Fabre M; Branchereau S; Baussan C; Gonzales E; Stieger B; Bernard O; Jacquemin E
Hepatology; 2010 May; 51(5):1645-55. PubMed ID: 20232290
[TBL] [Abstract][Full Text] [Related]
8. Phenotype-Genotype Correlation of North Indian Progressive Familial Intrahepatic Cholestasis type2 Children Shows p.Val444Ala and p.Asn591Ser Variants and Retained BSEP Expression.
Mitra S; Das A; Thapa B; Kumar Vasishta R
Fetal Pediatr Pathol; 2020 Apr; 39(2):107-123. PubMed ID: 31335238
[No Abstract] [Full Text] [Related]
9. Morphologic findings in progressive familial intrahepatic cholestasis 2 (PFIC2): correlation with genetic and immunohistochemical studies.
Evason K; Bove KE; Finegold MJ; Knisely AS; Rhee S; Rosenthal P; Miethke AG; Karpen SJ; Ferrell LD; Kim GE
Am J Surg Pathol; 2011 May; 35(5):687-96. PubMed ID: 21490445
[TBL] [Abstract][Full Text] [Related]
10. Functional rescue of an ABCB11 mutant by ivacaftor: A new targeted pharmacotherapy approach in bile salt export pump deficiency.
Mareux E; Lapalus M; Amzal R; Almes M; Aït-Slimane T; Delaunay JL; Adnot P; Collado-Hilly M; Davit-Spraul A; Falguières T; Callebaut I; Gonzales E; Jacquemin E
Liver Int; 2020 Aug; 40(8):1917-1925. PubMed ID: 32433800
[TBL] [Abstract][Full Text] [Related]
11. 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.
Khabou B; Kallabi F; Abdelaziz RB; Maaloul I; Aloulou H; Chehida AB; Kammoun T; Barbu V; Boudawara TS; Fakhfakh F; Khemakhem B; Sahnoun OS
Ann Hum Genet; 2024 May; 88(3):194-211. PubMed ID: 38108658
[TBL] [Abstract][Full Text] [Related]
12. Missense mutations and single nucleotide polymorphisms in ABCB11 impair bile salt export pump processing and function or disrupt pre-messenger RNA splicing.
Byrne JA; Strautnieks SS; Ihrke G; Pagani F; Knisely AS; Linton KJ; Mieli-Vergani G; Thompson RJ
Hepatology; 2009 Feb; 49(2):553-67. PubMed ID: 19101985
[TBL] [Abstract][Full Text] [Related]
13. Clinical phenotype and molecular analysis of a homozygous ABCB11 mutation responsible for progressive infantile cholestasis.
Imagawa K; Hayashi H; Sabu Y; Tanikawa K; Fujishiro J; Kajikawa D; Wada H; Kudo T; Kage M; Kusuhara H; Sumazaki R
J Hum Genet; 2018 May; 63(5):569-577. PubMed ID: 29507376
[TBL] [Abstract][Full Text] [Related]
14. Biosynthesis and trafficking of the bile salt export pump, BSEP: therapeutic implications of BSEP mutations.
Soroka CJ; Boyer JL
Mol Aspects Med; 2014 Jun; 37():3-14. PubMed ID: 23685087
[TBL] [Abstract][Full Text] [Related]
15. Relapsing features of bile salt export pump deficiency after liver transplantation in two patients with progressive familial intrahepatic cholestasis type 2.
Maggiore G; Gonzales E; Sciveres M; Redon MJ; Grosse B; Stieger B; Davit-Spraul A; Fabre M; Jacquemin E
J Hepatol; 2010 Nov; 53(5):981-6. PubMed ID: 20800306
[TBL] [Abstract][Full Text] [Related]
16. A Rare BSEP Mutation Associated with a Mild Form of Progressive Familial Intrahepatic Cholestasis Type 2.
Waisbourd-Zinman O; Surrey LF; Schwartz AE; Russo PA; Wen J
Ann Hepatol; 2017; 16(3):465-468. PubMed ID: 28425419
[TBL] [Abstract][Full Text] [Related]
17. ABCB11 deficiency presenting as transient neonatal cholestasis: Correlation with genotypes and BSEP expression.
Li LT; Li ZD; Yang Y; Lu Y; Xie XB; Chen L; Feng JY; Knisely AS; Wang JS
Liver Int; 2020 Nov; 40(11):2788-2796. PubMed ID: 32808743
[TBL] [Abstract][Full Text] [Related]
18. Progressive familial intrahepatic cholestasis.
Jacquemin E
Clin Res Hepatol Gastroenterol; 2012 Sep; 36 Suppl 1():S26-35. PubMed ID: 23141890
[TBL] [Abstract][Full Text] [Related]
19. Benign recurrent intrahepatic cholestasis type 2 is caused by mutations in ABCB11.
van Mil SW; van der Woerd WL; van der Brugge G; Sturm E; Jansen PL; Bull LN; van den Berg IE; Berger R; Houwen RH; Klomp LW
Gastroenterology; 2004 Aug; 127(2):379-84. PubMed ID: 15300568
[TBL] [Abstract][Full Text] [Related]
20. The Bile Salt Export Pump: Molecular Structure, Study Models and Small-Molecule Drugs for the Treatment of Inherited BSEP Deficiencies.
Sohail MI; Dönmez-Cakil Y; Szöllősi D; Stockner T; Chiba P
Int J Mol Sci; 2021 Jan; 22(2):. PubMed ID: 33466755
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
