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Select item 110102991.

Clinical and genetic study of ABCB4 gene-related cholestatic liver disease in China: children and adults

Lili Cao, Xiuxin Ling, Jianguo Yan, Danni Feng, Yi Dong, Zhiqiang Xu, Fuchuan Wang, Shishu Zhu, Yinjie Gao, Zhenhua Cao, Min Zhang

Orphanet J Rare Dis. 2024; 19: 157. Published online 2024 Apr 12. doi: 10.1186/s13023-024-03179-w

PMCID:: PMC11010299

Abstract Article PDF–2.1M

Select item 107675862.

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

Yang Zheng, Qunfang Rao, Yiru Han, Jianqin He

Mol Genet Genomic Med. 2024 Jan; 12(1): e2291. Published online 2023 Oct 3. doi: 10.1002/mgg3.2291

PMCID:: PMC10767586

Abstract Article PDF–936K

Select item 97735403.

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

Rong Chen, Feng-Xia Yang, Yan-Fang Tan, Mei Deng, Hua Li, Yi Xu, Wen-Xian Ouyang, Yuan-Zong Song

Orphanet J Rare Dis. 2022; 17: 445. Published online 2022 Dec 22. doi: 10.1186/s13023-022-02597-y

PMCID:: PMC9773540

Abstract Article PDF–2.1M

Select item 96703644.

A common variant in the hepatobiliary phospholipid transporter ABCB4 modulates liver injury in PBC but not in PSC: prospective analysis in 867 patients

Beata Kruk, Malgorzata Milkiewicz, Joanna Raszeja-Wyszomirska, Piotr Milkiewicz, Marcin Krawczyk

Orphanet J Rare Dis. 2022; 17: 419. Published online 2022 Nov 17. doi: 10.1186/s13023-022-02565-6

PMCID:: PMC9670364

Abstract Article PDF–941K

Select item 92227275.

Genetic Analysis of ABCB4 Mutations and Variants Related to the Pathogenesis and Pathophysiology of Low Phospholipid-Associated Cholelithiasis

Helen H. Wang, Piero Portincasa, Min Liu, David Q.-H. Wang

Genes (Basel) 2022 Jun; 13(6): 1047. Published online 2022 Jun 11. doi: 10.3390/genes13061047

PMCID:: PMC9222727

Abstract Article PDF–1.5M

Select item 89229656.

Mdr3 gene mutation in preterm infants with parenteral nutrition‐associated cholestasis

Xiufang Yang, Guosheng Liu, Bing Yi

Mol Genet Genomic Med. 2022 Mar; 10(3): e1875. Published online 2022 Feb 12. doi: 10.1002/mgg3.1875

PMCID:: PMC8922965

Abstract Article PDF–806K

Select item 73898347.

胃肠外营养相关性胆汁淤积症早产儿血MDR3基因mRNA表达

杨秀芳, 柳国胜, 陈玉兰, 陈简, 林蔷, 黄惠娟, 郑铠军

Zhongguo Dang Dai Er Ke Za Zhi. 2019 Feb 25; 21(2): 125–130. Chinese. doi: 10.7499/j.issn.1008-8830.2019.02.004

PMCID:: PMC7389834

Abstract Article PDF–1.1M

Select item 73152638.

Evaluation of a Novel Missense Mutation in ABCB4 Gene Causing Progressive Familial Intrahepatic Cholestasis Type 3

Komal Saleem, Qingbo Cui, Tahir Zaib, Siqi Zhu, Qian Qin, Yusi Wang, Jinxi Dam, Wei Ji, Peng Liu, Xueyuan Jia, Jie Wu, Jing Bai, Songbin Fu, Wenjing Sun

Dis Markers. 2020; 2020: 6292818. Published online 2020 Jun 15. doi: 10.1155/2020/6292818

PMCID:: PMC7315263

Abstract Article PDF–1.6M

Select item 58219439.

Loss of ABCB4 attenuates the caspase-dependent apoptosis regulating resistance to 5-Fu in colorectal cancer

Hanqing Hu, Meng Wang, Xu Guan, Ziming Yuan, Zheng Liu, Chaoxia Zou, Guiyu Wang, Xu Gao, Xishan Wang

Biosci Rep. 2018 Feb 28; 38(1): BSR20171428. Prepublished online 2018 Jan 25. Published online 2018 Feb 21. doi: 10.1042/BSR20171428

PMCID:: PMC5821943

Abstract Article PDF–869K

Select item 535525510.

Multidrug resistance transporter profile reveals MDR3 as a marker for stratification of blastemal Wilms tumour patients

Lourdes Hontecillas-Prieto, Daniel J. Garcia-Dominguez, Diego Pascual Vaca, Rosa Garcia-Mejias, David Marcilla, Gema L. Ramirez-Villar, Carmen Saez, Enrique de Álava

Oncotarget. 2017 Feb 14; 8(7): 11173–11186. Published online 2017 Jan 4. doi: 10.18632/oncotarget.14491

Correction in:: Oncotarget. 2017 Sep 8; 8(38): 64652.

PMCID:: PMC5355255

Abstract Article PDF–3.5M

Select item 489172211.

Functional characterization of ABCB4 mutations found in progressive familial intrahepatic cholestasis type 3

Hyo Jin Park, Tae Hee Kim, So Won Kim, Shin Hye Noh, Kyeong Jee Cho, Choe Choi, Eun Young Kwon, Yang Ji Choi, Heon Yung Gee, Ji Ha Choi

Sci Rep. 2016; 6: 26872. Published online 2016 Jun 3. doi: 10.1038/srep26872

PMCID:: PMC4891722

Abstract Article PDF–1.0M

Select item 434220012.

Exome sequencing of a family with lone, autosomal dominant atrial flutter identifies a rare variation in ABCB4 significantly enriched in cases

Anna Maciąg, Francesco Villa, Anna Ferrario, Chiara Carmela Spinelli, Albino Carrizzo, Alberto Malovini, Annalaura Torella, Chiara Montenero, Attilio Parisi, Gianluigi Condorelli, Carmine Vecchione, Vincenzo Nigro, Annibale Sandro Montenero, Annibale Alessandro Puca

BMC Genet. 2015; 16: 15. Published online 2015 Feb 11. doi: 10.1186/s12863-015-0177-0

PMCID:: PMC4342200

Abstract Article PDF–655K

Select item 434031113.

ABCB4 exports phosphatidylcholine in a sphingomyelin-dependent manner

Yu Zhao, Masato Ishigami, Kohjiro Nagao, Kentaro Hanada, Nozomu Kono, Hiroyuki Arai, Michinori Matsuo, Noriyuki Kioka, Kazumitsu Ueda

J Lipid Res. 2015 Mar; 56(3): 644–652. doi: 10.1194/jlr.M056622

PMCID:: PMC4340311

Abstract Article PDF–1.2M

Select item 433522914.

A Mutation within the Extended X Loop Abolished Substrate-induced ATPase Activity of the Human Liver ATP-binding Cassette (ABC) Transporter MDR3

Marianne Kluth, Jan Stindt, Carola Dröge, Doris Linnemann, Ralf Kubitz, Lutz Schmitt

J Biol Chem. 2015 Feb 20; 290(8): 4896–4907. Published online 2014 Dec 22. doi: 10.1074/jbc.M114.588566

PMCID:: PMC4335229

Abstract Article PDF–1.7M

Select item 429230715.

Novel mutation in a Chinese patient with progressive familial intrahepatic cholestasis type 3

Hao-Zhe Sun, Hong Shi, Shun-Cai Zhang, Xi-Zhong Shen

World J Gastroenterol. 2015 Jan 14; 21(2): 699–703. Published online 2015 Jan 14. doi: 10.3748/wjg.v21.i2.699

PMCID:: PMC4292307

Abstract Article PDF–1.2M

Select item 421916216.

ABCB4 is frequently epigenetically silenced in human cancers and inhibits tumor growth

Steffen Kiehl, Stefanie C. Herkt, Antje M. Richter, Liesa Fuhrmann, Nefertiti El-Nikhely, Werner Seeger, Rajkumar Savai, Reinhard H. Dammann

Sci Rep. 2014; 4: 6899. Published online 2014 Nov 4. doi: 10.1038/srep06899

PMCID:: PMC4219162

Abstract Article PDF–1.5M

Select item 362231917.

Bile salt-stimulated phospholipid efflux mediated by ABCB4 localized in nonraft membranes

Shin-ya Morita, Tadanori Tsuda, Manami Horikami, Reiko Teraoka, Shuji Kitagawa, Tomohiro Terada

J Lipid Res. 2013 May; 54(5): 1221–1230. doi: 10.1194/jlr.M032425

PMCID:: PMC3622319

Abstract Article PDF–805K

Select item 328317918.

First description of ABCB4 gene deletions in familial low phospholipid-associated cholelithiasis and oral contraceptives-induced cholestasis

Eric Pasmant, Philippe Goussard, Laetitia Baranes, Ingrid Laurendeau, Samuel Quentin, Philippe Ponsot, Yann Consigny, Olivier Farges, Bertrand Condat, Dominique Vidaud, Michel Vidaud, Jian-Min Chen, Béatrice Parfait

Eur J Hum Genet. 2012 Mar; 20(3): 277–282. Published online 2011 Oct 12. doi: 10.1038/ejhg.2011.186