| Clinical and genetic study of ABCB4 gene-related cholestatic liver disease in China: children and adults. | Clinical and genetic study of ABCB4 gene-related cholestatic liver disease in China: children and adults.
Cao L, Ling X, Yan J, Feng D, Dong Y, Xu Z, Wang F, Zhu S, Gao Y, Cao Z, Zhang M., Free PMC Article | 04/17/2024 |
| Clinical outcomes of ABCB4 heterozygosity in infants and children with cholestatic liver disease. | Clinical outcomes of ABCB4 heterozygosity in infants and children with cholestatic liver disease.
Hegarty R, Gurra O, Tarawally J, Allouni S, Rahman O, Strautnieks S, Kyrana E, Hadzic N, Thompson RJ, Grammatikopoulos T. | 03/4/2024 |
| A novel heterozygous deletion in ABCB4 gene in a Chinese family with intrahepatic cholestasis of pregnancy, neonatal hyperbilirubinemia, and cholelithiasis: Case reports and literature review. | A novel heterozygous deletion in ABCB4 gene in a Chinese family with intrahepatic cholestasis of pregnancy, neonatal hyperbilirubinemia, and cholelithiasis: Case reports and literature review.
Zheng Y, Rao Q, Han Y, He J., Free PMC Article | 02/7/2024 |
| MDR3 rs2109505 and rs1202283 polymorphisms are associated with susceptibility to intrahepatic cholestasis of pregnancy: A meta-analysis. | MDR3 rs2109505 and rs1202283 polymorphisms are associated with susceptibility to intrahepatic cholestasis of pregnancy: A meta-analysis.
Zhuo H, Fan J, Yao L, Zheng L, Chai Y. | 01/11/2024 |
| Analysis of various ATP-binding cassette transporters revealed quantification of ABCB4 as a potential diagnostic tool in primary sclerosing cholangitis (PSC). | Analysis of various ATP-binding cassette transporters revealed quantification of ABCB4 as a potential diagnostic tool in primary sclerosing cholangitis (PSC).
Thoeni C, Perciani CT, Nakib D, Camat D, McGilvray ID, MacParland SA, Fischer S. | 09/18/2023 |
| Clinical and genetic characterization of pediatric patients with progressive familial intrahepatic cholestasis type 3 (PFIC3): identification of 14 novel ABCB4 variants and review of the literatures. | Clinical and genetic characterization of pediatric patients with progressive familial intrahepatic cholestasis type 3 (PFIC3): identification of 14 novel ABCB4 variants and review of the literatures.
Chen R, Yang FX, Tan YF, Deng M, Li H, Xu Y, Ouyang WX, Song YZ., Free PMC Article | 03/3/2023 |
| A common variant in the hepatobiliary phospholipid transporter ABCB4 modulates liver injury in PBC but not in PSC: prospective analysis in 867 patients. | A common variant in the hepatobiliary phospholipid transporter ABCB4 modulates liver injury in PBC but not in PSC: prospective analysis in 867 patients.
Kruk B, Milkiewicz M, Raszeja-Wyszomirska J, Milkiewicz P, Krawczyk M., Free PMC Article | 11/26/2022 |
| ABCB4 Mutations in Adults Cause a Spectrum Cholestatic Disorder Histologically Distinct from Other Biliary Disease. | ABCB4 Mutations in Adults Cause a Spectrum Cholestatic Disorder Histologically Distinct from Other Biliary Disease.
Sinha A, Bhuva M, Grant C, Gimson AE, Thompson E, Duckworth A, Davies SE, Aithal G, Griffiths WJ. | 11/26/2022 |
| Heterozygous mutations of ATP8B1, ABCB11 and ABCB4 cause mild forms of Progressive Familial Intrahepatic Cholestasis in a pediatric cohort. | Heterozygous mutations of ATP8B1, ABCB11 and ABCB4 cause mild forms of Progressive Familial Intrahepatic Cholestasis in a pediatric cohort.
Mínguez Rodríguez B, Molera Busoms C, Martorell Sampol L, García Romero R, Colomé Rivero G, Martín de Carpi J. | 10/15/2022 |
| Clinical phenotype of adult-onset liver disease in patients with variants in ABCB4, ABCB11, and ATP8B1. | Clinical phenotype of adult-onset liver disease in patients with variants in ABCB4, ABCB11, and ATP8B1.
Nayagam JS, Foskett P, Strautnieks S, Agarwal K, Miquel R, Joshi D, Thompson RJ., Free PMC Article | 10/8/2022 |
| Genetic Analysis of ABCB4 Mutations and Variants Related to the Pathogenesis and Pathophysiology of Low Phospholipid-Associated Cholelithiasis. | Genetic Analysis of ABCB4 Mutations and Variants Related to the Pathogenesis and Pathophysiology of Low Phospholipid-Associated Cholelithiasis.
Wang HH, Portincasa P, Liu M, Wang DQ., Free PMC Article | 07/2/2022 |
| Mdr3 gene mutation in preterm infants with parenteral nutrition-associated cholestasis. | Mdr3 gene mutation in preterm infants with parenteral nutrition-associated cholestasis.
Yang X, Liu G, Yi B., Free PMC Article | 06/18/2022 |
| Progressive familial intrahepatic cholestasis type 3: Report of four clinical cases, novel ABCB4 variants and long-term follow-up. | Progressive familial intrahepatic cholestasis type 3: Report of four clinical cases, novel ABCB4 variants and long-term follow-up.
Lipiński P, Ciara E, Jurkiewicz D, Płoski R, Wawrzynowicz-Syczewska M, Pawłowska J, Jankowska I. | 05/14/2022 |
| The wide phenotypic and genetic spectrum of ABCB4 gene deficiency: A case series. | The wide phenotypic and genetic spectrum of ABCB4 gene deficiency: A case series.
Falcão D, Pedroto I, Moreira T. | 04/23/2022 |
| MRCK-Alpha and Its Effector Myosin II Regulatory Light Chain Bind ABCB4 and Regulate Its Membrane Expression. | MRCK-Alpha and Its Effector Myosin II Regulatory Light Chain Bind ABCB4 and Regulate Its Membrane Expression.
Bruneau A, Delaunay JL, Durand-Schneider AM, Vauthier V, Ben Saad A, Aoudjehane L, El Mourabit H, Morichon R, Falguières T, Gautheron J, Housset C, Aït-Slimane T., Free PMC Article | 04/16/2022 |
| ATP-binding cassette transporters mediate differential biosynthesis of glycosphingolipid species. | ATP-binding cassette transporters mediate differential biosynthesis of glycosphingolipid species.
Budani M, Auray-Blais C, Lingwood C., Free PMC Article | 03/26/2022 |
| Evidence for a credit-card-swipe mechanism in the human PC floppase ABCB4. | Evidence for a credit-card-swipe mechanism in the human PC floppase ABCB4.
Prescher M, Bonus M, Stindt J, Keitel-Anselmino V, Smits SHJ, Gohlke H, Schmitt L. | 03/19/2022 |
| Variants in ABCB4 (MDR3) across the spectrum of cholestatic liver diseases in adults. | Variants in ABCB4 (MDR3) across the spectrum of cholestatic liver diseases in adults.
Stättermayer AF, Halilbasic E, Wrba F, Ferenci P, Trauner M. | 01/15/2022 |
| ABCB4 variants in adult patients with cholestatic disease are frequent and underdiagnosed. | ABCB4 variants in adult patients with cholestatic disease are frequent and underdiagnosed.
Avena A, Puggelli S, Morris M, Cerny A, Andrade AR, Pareti E, Bihl F, Cassatella D, Moix I, Merlo E, Rougemont AL, Majno-Hurst P, Vergani D, Mieli-Vergani G, Terziroli Beretta-Piccoli B. | 12/25/2021 |
| ATP8B1, ABCB11, and ABCB4 Genes Defects: Novel Mutations Associated with Cholestasis with Different Phenotypes and Outcomes. | 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. | 11/27/2021 |
| RAB10 Interacts with ABCB4 and Regulates Its Intracellular Traffic. | RAB10 Interacts with ABCB4 and Regulates Its Intracellular Traffic.
Ben Saad A, Vauthier V, Lapalus M, Mareux E, Bennana E, Durand-Schneider AM, Bruneau A, Delaunay JL, Gonzales E, Housset C, Aït-Slimane T, Guillonneau F, Jacquemin E, Falguières T., Free PMC Article | 07/24/2021 |
| Effect of CFTR correctors on the traffic and the function of intracellularly retained ABCB4 variants. | Effect of CFTR correctors on the traffic and the function of intracellularly retained ABCB4 variants.
Ben Saad A, Vauthier V, Tóth Á, Janaszkiewicz A, Durand-Schneider AM, Bruneau A, Delaunay JL, Lapalus M, Mareux E, Garcin I, Gonzales E, Housset C, Aït-Slimane T, Jacquemin E, Di Meo F, Falguières T. | 07/17/2021 |
| Genetic variant c.711A>T in the hepatobiliary phospholipid transporter ABCB4 is associated with significant liver fibrosis. | Genetic variant c.711A>T in the hepatobiliary phospholipid transporter ABCB4 is associated with significant liver fibrosis.
Smyk W, Weber SN, Hall R, Gruenhage F, Lammert F, Krawczyk M. | 07/17/2021 |
| Evaluation of a Novel Missense Mutation in ABCB4 Gene Causing Progressive Familial Intrahepatic Cholestasis Type 3. | Evaluation of a Novel Missense Mutation in ABCB4 Gene Causing Progressive Familial Intrahepatic Cholestasis Type 3.
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., Free PMC Article | 05/29/2021 |
| ABCB4 disease: Many faces of one gene deficiency. | ABCB4 disease: Many faces of one gene deficiency.
Sticova E, Jirsa M. | 02/13/2021 |