The DOI matches its Crossref record; 15 of the 15 references it cites were found in a registry or an index.
Sequence analysis of bile salt export pump (ABCB11) and multidrug resistance p-glycoprotein 3 (ABCB4, MDR3) in patients with intrahepatic cholestasis of pregnancy
Abstract
Intrahepatic cholestasis of pregnancy (ICP) is a liver disorder associated with increased risk of intrauterine fetal death and prematurity. There is increasing evidence that genetically determined dysfunction in the canalicular ABC transporters bile salt export pump (BSEP, ABCB11) and multidrug resistance protein 3 (MDR3, ABCB4) might be risk factors for ICP development. This study aimed to (i). describe the extent of genetic variability in BSEP and MDR3 in ICP and (ii). identify new disease-causing mutations. Twenty-one women with ICP and 40 women with uneventful pregnancies were recruited between April 2001 and April 2003. Sequencing of BSEP and MDR3 spanned 8-10 kb per gene and comprised the promoter region and 100-350 bp of the flanking intronic region around each exon. DNA sequencing of polymerase chain reaction fragments was performed on an ABI3700 capillary sequencer. MDR3 promoter activity of promoter constructs carrying different ICP-specific mutations was studied using reporter assays. A total of 37 and 51 variant sites were detected in BSEP and MDR3, respectively. Three non-synonymous sites in codons for evolutionarily conserved amino acids were specific for the ICP collective (BSEP, N591S; MDR3, S320F and G762E). Furthermore, four ICP-specific splicing mutations were detected in MDR3 [intron 21, G(+1)A; intron 25, G(+5)C and C(-3)G; and intron 26, T(+2)A]. Activity of the mutated MDR3 promoter was similar to that observed for the wild-type promoter. Our data further support an involvement of MDR3 genetic variation in the pathogenesis of ICP, whereas analysis of BSEP sequence variation indicates that this gene is probably less important for the development of pregnancy-associated cholestasis.
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Heterozygous non-sense mutation of the MDR3 gene in familial intrahepatic cholestasis of pregnancy
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Intrahepatic cholestasis of pregnancy: A French prospective study
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Sequence of mdr3 cDNA encoding a human P-glycoprotein
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Obstetric cholestasis, outcome with active management: a series of 70 cases
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Bile acid signaling in metabolic disease and drug therapy
Li, T., & Chiang, J. Y. L. (2014) · Pharmacological Reviews · doi:10.1124/pr.113.008201 · Cited by 935
Intrahepatic cholestasis of pregnancy
Geenes, V., & Williamson, C. (2009) · World Journal of Gastroenterology · doi:10.3748/wjg.15.2049 · Cited by 675
Severe Bile Salt Export Pump Deficiency: 82 Different ABCB11 Mutations in 109 Families
Strautnieks, S. S., Byrne, J. A., Pawlikowska, L., Cebecauerová, D., Rayner, A., Dutton, L., Meier, Y., Antoniou, A., Stieger, B., Arnell, H., et al. (2008) · Gastroenterology · doi:10.1053/j.gastro.2008.01.038 · Cited by 384
Self-citationRisk Factors for Idiosyncratic Drug-Induced Liver Injury
Chalasani, N., & Björnsson, E. (2010) · Gastroenterology · doi:10.1053/j.gastro.2010.04.001 · Cited by 347
The ascending pathophysiology of cholestatic liver disease
Jansen, P. L. M., Ghallab, A., Vartak, N., Reif, R., Schaap, F. G., Hampe, J., & Hengstler, J. G. (2017) · Hepatology · doi:10.1002/hep.28965 · Cited by 301
Metadata
- Authors
- Pauli-Magnus, C., Lang, T., Meier, Y., Zodan-Marin, T., Jung, D., Breymann, C., Zimmermann, R., Kenngott, S., Beuers, U., Reichel, C., Kerb, R., Penger, A., Meier, P. J., & Kullak-Ublick, G. A.
- Venue
- Pharmacogenetics
- Published
- 2004-02
- Volume
- 14
- Issue
- 2
- Pages
- 91-102
- ISSN
- 0960-314X (ISSN-L)
- OpenAlex
- W1984274163
- Cited by
- 273
- References
- 15
- FWCI
- 9.25
- Type
- journal article
- Language
- en
- Open access
- closed
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- CoChat. (2026). Citation check: Sequence analysis of bile salt export pump (ABCB11) and multidrug resistance p-glycoprotein 3 (ABCB4, MDR3) in patients with intrahepatic cholestasis of pregnancy. https://app.cochat.ai/papers/10.1097/00008571-200402000-00003
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- Pauli-Magnus, C., Lang, T., Meier, Y., Zodan-Marin, T., Jung, D., Breymann, C., Zimmermann, R., Kenngott, S., Beuers, U., Reichel, C., Kerb, R., Penger, A., Meier, P. J., & Kullak-Ublick, G. A. (2004). Sequence analysis of bile salt export pump (ABCB11) and multidrug resistance p-glycoprotein 3 (ABCB4, MDR3) in patients with intrahepatic cholestasis of pregnancy. Pharmacogenetics. https://doi.org/10.1097/00008571-200402000-00003
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