BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

180 related articles for article (PubMed ID: 31335238)

  • 1. 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]  

  • 2. 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]  

  • 3. 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]  

  • 4. 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]  

  • 5. 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]  

  • 6. [Phenotype and genetic analysis of a pedigree affected with progressive familial intrahepatic cholestasis].
    Wu Q; Ma B; Yang S; Mei S; Ma X; Kong X; Shi H
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2019 Aug; 36(8):789-793. PubMed ID: 31400129
    [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. 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]  

  • 9. 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]  

  • 10. Levels of plasma membrane expression in progressive and benign mutations of the bile salt export pump (Bsep/Abcb11) correlate with severity of cholestatic diseases.
    Lam P; Pearson CL; Soroka CJ; Xu S; Mennone A; Boyer JL
    Am J Physiol Cell Physiol; 2007 Nov; 293(5):C1709-16. PubMed ID: 17855769
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. 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]  

  • 13. 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]  

  • 14. Hepatocanalicular bile salt export pump deficiency in patients with progressive familial intrahepatic cholestasis.
    Jansen PL; Strautnieks SS; Jacquemin E; Hadchouel M; Sokal EM; Hooiveld GJ; Koning JH; De Jager-Krikken A; Kuipers F; Stellaard F; Bijleveld CM; Gouw A; Van Goor H; Thompson RJ; Müller M
    Gastroenterology; 1999 Dec; 117(6):1370-9. PubMed ID: 10579978
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. Review article: liver disease in adults with variants in the cholestasis-related genes ABCB11, ABCB4 and ATP8B1.
    Nayagam JS; Williamson C; Joshi D; Thompson RJ
    Aliment Pharmacol Ther; 2020 Dec; 52(11-12):1628-1639. PubMed ID: 33070363
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. Comprehensive bile acid profiling in hereditary intrahepatic cholestasis: Genetic and clinical correlations.
    Liu T; Wang RX; Han J; Hao CZ; Qiu YL; Yan YY; Li LT; Wang NL; Gong JY; Lu Y; Zhang MH; Xie XB; Yang JC; You YJ; Li JQ; Knisely AS; Borchers CH; Ling V; Wang JS
    Liver Int; 2018 Sep; 38(9):1676-1685. PubMed ID: 29412511
    [TBL] [Abstract][Full Text] [Related]  

  • 19.  Bile salt export pump deficiency disease: two novel, late onset, ABCB11 mutations identified by next generation sequencing.
    Vitale G; Pirillo M; Mantovani V; Marasco E; Aquilano A; Gamal N; Francalanci P; Conti F; Andreone P
    Ann Hepatol; 2016; 15(5):795-800. PubMed ID: 27493120
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 9.