PubMed for id: 483742

Year	Number of Results
1997	1
1998	1
1999	2
2000	4
2001	3
2002	4
2003	6
2004	9
2005	5
2006	10
2007	11
2008	12
2009	16
2010	21
2011	15
2012	20
2013	13
2014	20
2015	18
2016	20
2017	17
2018	22
2019	26
2020	27
2021	29
2022	25
2023	12
2024	5

1

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. Khabou B, et al. Ann Hum Genet. 2024 May;88(3):194-211. doi: 10.1111/ahg.12542. Epub 2023 Dec 18. Ann Hum Genet. 2024. PMID: 38108658

2

Native liver survival in bile salt export pump deficiency: results of a retrospective cohort study.

Pfister ED, Jaeger VK, Karch A, Shay D, Schukfeh N, Ohlendorf J, Junge N, Goldschmidt I, Stalke A, Keitel-Anselmino V, Baumann U. Pfister ED, et al. Hepatol Commun. 2023 Mar 30;7(4):e0092. doi: 10.1097/HC9.0000000000000092. eCollection 2023 Apr 1. Hepatol Commun. 2023. PMID: 36995996 Free PMC article.

3

In Vitro Rescue of the Bile Acid Transport Function of ABCB11 Variants by CFTR Potentiators.

Mareux E, Lapalus M, Ben Saad A, Zelli R, Lakli M, Riahi Y, Almes M, Banet M, Callebaut I, Decout JL, Falguières T, Jacquemin E, Gonzales E. Mareux E, et al. Int J Mol Sci. 2022 Sep 15;23(18):10758. doi: 10.3390/ijms231810758. Int J Mol Sci. 2022. PMID: 36142670 Free PMC article.

4

Progressive Familial Intrahepatic Cholestasis Type 2 and Recurrence After Liver Transplantation: A Case Report.

Romeres SGB, Trevizoli NC, Oliveira CAM, Obeid EJ, Arantes Ferreira GS, De Campos PB, Ullmann RFB, Rocha HC, Figueira AVF, Diaz LGG, Jorge FMF, Caja GON, Watanabe ALC, Sobroza de Mello E, Carvalho E. Romeres SGB, et al. Transplant Proc. 2022 Jun;54(5):1370-1375. doi: 10.1016/j.transproceed.2022.04.007. Epub 2022 Jun 17. Transplant Proc. 2022. PMID: 35718560

5

Maralixibat for the treatment of PFIC: Long-term, IBAT inhibition in an open-label, Phase 2 study.

Loomes KM, Squires RH, Kelly D, Rajwal S, Soufi N, Lachaux A, Jankowska I, Mack C, Setchell KDR, Karthikeyan P, Kennedy C, Dorenbaum A, Desai NK, Garner W, Jaecklin T, Vig P, Miethke A, Thompson RJ. Loomes KM, et al. Hepatol Commun. 2022 Sep;6(9):2379-2390. doi: 10.1002/hep4.1980. Epub 2022 May 4. Hepatol Commun. 2022. PMID: 35507739 Free PMC article. Clinical Trial.

6

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. Zheng Y, et al. Dig Liver Dis. 2022 Nov;54(11):1541-1547. doi: 10.1016/j.dld.2022.04.002. Epub 2022 Apr 27. Dig Liver Dis. 2022. PMID: 35490150

7

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. Selim N, et al. Arab J Gastroenterol. 2022 Feb;23(1):15-19. doi: 10.1016/j.ajg.2021.11.003. Epub 2022 Feb 10. Arab J Gastroenterol. 2022. PMID: 35153175

8

Impact of progressive familial intrahepatic cholestasis on caregivers: caregiver-reported outcomes from the multinational PICTURE study.

Mighiu C, O'Hara S, Ferri Grazzi E, Murray KF, Schattenberg JM, Ventura E, Karakaidos M, Taylor A, Brrang H, Dhawan A, Willemse J, Finnegan A. Mighiu C, et al. Orphanet J Rare Dis. 2022 Feb 2;17(1):32. doi: 10.1186/s13023-022-02177-0. Orphanet J Rare Dis. 2022. PMID: 35109890 Free PMC article.

9

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. Mareux E, et al. Orphanet J Rare Dis. 2021 Nov 18;16(1):484. doi: 10.1186/s13023-021-02125-4. Orphanet J Rare Dis. 2021. PMID: 34794484 Free PMC article.

10

The spectrum of Progressive Familial Intrahepatic Cholestasis diseases: Update on pathophysiology and emerging treatments.

Felzen A, Verkade HJ. Felzen A, et al. Eur J Med Genet. 2021 Nov;64(11):104317. doi: 10.1016/j.ejmg.2021.104317. Epub 2021 Aug 31. Eur J Med Genet. 2021. PMID: 34478903 Review.

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