Homozygous p.Ser267Phe in SLC10A1 is associated with a new type of hypercholanemia and implications for personalized medicine-Reference-Cited by-同舟云学术

Homozygous p.Ser267Phe in SLC10A1 is associated with a new type of hypercholanemia and implications for personalized medicine

Published:2017-08-23 Issue:1 Volume:7 Page:
ISSN:2045-2322
Container-title:Scientific Reports
language:en
Short-container-title:Sci Rep

Author:

Liu Ruihong,Chen Chuming,Xia Xuefeng,Liao Qijun,Wang Qiong,Newcombe Paul J.,Xu Shuhua^ORCID,Chen Minghui,Ding Yue,Li Xiaoying,Liao Zhihong,Li Fucheng,Du Minlian,Huang Huaiqiu,Dong Ruimin,Deng Weiping,Wang Ye,Zeng Binghui,Pan Qihao,Jiang Danhua,Zeng Hao,Sham Pak,Cao Yingnan,Maxwell Patrick H.,Gao Zhi-liang,Peng Liang,Wang Yiming

Publisher

Springer Science and Business Media LLC

Subject

Multidisciplinary

Link

http://www.nature.com/articles/s41598-017-07012-2.pdf

Reference23 articles.

1. Boyer, J. L. Bile formation and secretion. Compr Physiol 3, 1035–1078 (2013).

2. Yan, H. et al. Sodium taurocholate cotransporting polypeptide is a functional receptor for human hepatitis B and D virus. Elife 1, e00049 (2012).

3. Anwer, M. S. & Stieger, B. Sodium-dependent bile salt transporters of the SLC10A transporter family: more than solute transporters. Pflugers Arch 466, 77–89 (2014).

4. Dong, Z., Ekins, S. & Polli, J. E. Structure-activity relationship for FDA approved drugs as inhibitors of the human sodium taurocholate cotransporting polypeptide (NTCP). Mol Pharm 10, 1008–1019 (2013).

5. Lapham, K. et al. Inhibition of Hepatobiliary Transport Activity by the Antibacterial Agent Fusidic Acid: Insights into Factors Contributing to Conjugated Hyperbilirubinemia/Cholestasis. Chem Res Toxicol 29 (2016).

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1. Familial NTCPD presenting with persistent hypercholanemia and co-existing with a series of novel heterozygous mutations;Clinics and Research in Hepatology and Gastroenterology;2024-10

2. SLC10A1 rs2296651 variant (S267F mutation) predicts biochemical traits, hepatitis B virus infection susceptibility and the risk of gallstone disease;Molecular Genetics and Genomics;2024-06-13

3. Joint host-pathogen genomic analysis identifies hepatitis B virus mutations associated with human NTCP and HLA class I variation;The American Journal of Human Genetics;2024-06

4. Neonatal jaundice caused by compound mutations of SLC10A1 and a novel UGT1A1 gene;Clinics and Research in Hepatology and Gastroenterology;2024-05

5. Sodium taurocholate cotransporter polypeptide deficiency from two pairs of twins with homozygous and heterozygous of p.Ser267Phe variant, respectively: Case report;Clinics and Research in Hepatology and Gastroenterology;2024-03