A novel heterozygous NR1H4 termination codon mutation in idiopathic infantile cholestasis-Reference-Cited by-同舟云学术

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A novel heterozygous NR1H4 termination codon mutation in idiopathic infantile cholestasis

Published:2011-06-01 Issue:1 Volume:8 Page:67-71
ISSN:1708-8569
Container-title:World Journal of Pediatrics
language:en
Short-container-title:World J Pediatr

Author:

Chen Xiu-Qi,Wang Lin-Lin,Shan Qing-Wen,Tang Qing,Deng Ya-Nan,Lian Shu-Jun,Yun Xiang

Publisher

Springer Science and Business Media LLC

Subject

Pediatrics, Perinatology and Child Health

Link

http://link.springer.com/content/pdf/10.1007/s12519-011-0299-z.pdf

Reference23 articles.

1. Chen F, Ananthanarayanan M, Emre S, Neimark E, Bull LN, Knisely AS, et al. Progressive familial intrahepatic cholestasis, type 1, is associated with decreased farnesoid X receptor activity. Gastroenterology 2004;126:756–764.

2. Jansen PL, Muller MM. Progressive familial intrahepatic cholestasis types 1, 2, and 3. Gut 1998;42:766–767.

3. Arnell H, Nemeth A, Anneren G, Dahl N. Progressive familial intrahepatic cholestasis (PFIC): evidence for genetic heterogeneity by exclusion of linkage to chromosome 18q21–q22. Hum Genet 1997;100:378–381.

4. Wang YD, Chen WD, Wang M, Yu D, Forman BM, Huang W. Farnesoid X receptor antagonizes nuclear factor kappaB in hepatic inflammatory response. Hepatology 2008;48:1632–1643.

5. Wang YD, Chen WD, Moore DD, Huang W. FXR: a metabolic regulator and cell protector. Cell Res 2008;18:1087–1095.

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1. NR1H4 mutation and rapid progressive intrahepatic cholestasis in infancy: A case report and literature review;Clinical Case Reports;2024-02

2. Genetics in Familial Intrahepatic Cholestasis: Clinical Patterns and Development of Liver and Biliary Cancers: A Review of the Literature;Cancers;2022-07-14

3. Advances in genetic, epigenetic and environmental aspects of rare liver diseases;European Journal of Medical Genetics;2022-02

4. The Role of FXR-Signaling Variability in the Development and Course of Non-Alcoholic Fatty Liver Disease in Children;Acta Medica (Hradec Kralove, Czech Republic);2022

5. Familial Intrahepatic Cholestasis;Textbook of Pediatric Gastroenterology, Hepatology and Nutrition;2021-11-25

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