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May 26, 2021 (publication date) through Dec 9, 2025
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Publication Name
World Journal of Clinical Cases
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2307-8960
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Baishideng Publishing Group Inc, 7041 Koll Center Parkway, Suite 160, Pleasanton, CA 94566, USA
| Czubkowski P, Thompson RJ, Jankowska I, Knisely AS, Finegold M, Parsons P, Cielecka-Kuszyk J, Strautnieks S, Pawłowska J, Bull LN. Progressive familial intrahepatic cholestasis — farnesoid X receptor deficiency due to NR1H4 mutation: A case report. World J Clin Cases 2021; 9(15): 3631-3636 [PMID: 34046462 DOI: 10.12998/wjcc.v9.i15.3631] |
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| ©2004-2025 Baishideng Publishing Group Inc. All rights reserved. 7041 Koll Center Parkway, Suite 160, Pleasanton, CA 94566, USA | |
| For: | Czubkowski P, Thompson RJ, Jankowska I, Knisely AS, Finegold M, Parsons P, Cielecka-Kuszyk J, Strautnieks S, Pawłowska J, Bull LN. Progressive familial intrahepatic cholestasis — farnesoid X receptor deficiency due to NR1H4 mutation: A case report. World J Clin Cases 2021; 9(15): 3631-3636 [PMID: 34046462 DOI: 10.12998/wjcc.v9.i15.3631] |
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| URL: | https://www.wjgnet.com/2307-8960/full/v9/i15/3631.htm |
| Number | Citing Articles |
| 1 |
R. A. Gudkov, A. V. Dmitriev, N. V. Fedina, V. I. Petrova, E. E. Blokhova, M. R. Terzieva. Progressive familial intrahepatic cholestasis: a brief review of the literature and our own clinical observation. Experimental and Clinical Gastroenterology 2024; (7): 100 doi: 10.31146/1682-8658-ecg-227-7-100-105
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| 2 |
Rong Gao, Jinling Yan, Peiluan Li, Luonan Chen. Detecting the critical states during disease development based on temporal network flow entropy. Briefings in Bioinformatics 2022; 23(5) doi: 10.1093/bib/bbac164
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| 3 |
R.A. GUDKOV, A.V. DMITRIEV, N.V. FEDINA, V.I. PETROVA. PROGRESSIVE FAMILIAL INTRAHEPATIC CHOLESTASIS IN CHILDREN. AVICENNA BULLETIN 2024; 27(1): 143 doi: 10.25005/2074-0581-2025-27-1-143-154
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| 4 |
Chiao‐Yu Yang, Hung‐Wen Tsai, Yen‐Yin Chou, Yao‐Jong Yang. NR1H4 mutation and rapid progressive intrahepatic cholestasis in infancy: A case report and literature review. Clinical Case Reports 2024; 12(2) doi: 10.1002/ccr3.8531
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| 5 |
Lakshmi Suresh, Jagadeesh Menon, Naresh Shanmugam, Mukul Vij, Ashwin Rammohan, Mohamed Rela. First Report of Living Donor Liver Transplantation for NR1H4 Disease. Pediatric Transplantation 2025; 29(7) doi: 10.1111/petr.70175
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| 6 |
Annika Behrendt, Alex Bastianelli, Jan Stindt, Eva-Doreen Pfister, Malte Sgodda, Tobias Cantz, Sebastian Hook, Mohanraj Gopalswamy, Kathrin Grau, Stefanie Brands, Carola Dröge, Amelie Stalke, Michele Bonus, Sabine Franke, Ulrich Baumann, Verena Keitel, Holger Gohlke. A farnesoid X receptor T296I variant disrupts ligand-induced FXR activation and thus bile acid transport in progressive familial intrahepatic cholestasis. Journal of Biological Chemistry 2025; 301(11): 110769 doi: 10.1016/j.jbc.2025.110769
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| 7 |
Mohammad Nazmul Hasan, Huaiwen Wang, Wenyi Luo, Yung Dai Clayton, Lijie Gu, Yanhong Du, Sirish K. Palle, Jianglei Chen, Tiangang Li. Gly-β-MCA is a potent anti-cholestasis agent against “human-like” hydrophobic bile acid-induced biliary injury in mice. Journal of Lipid Research 2024; 65(10): 100649 doi: 10.1016/j.jlr.2024.100649
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| 8 |
Rim Belhadj, Ines Maaloul, Wissem Besghaier, Roeya Kolsi, Naoual Sabaouni, Frank Broly, Thouraya Kamoun. Progressive familial intrahepatic cholestasis type 5 due to a novel mutation in the NR1H4 gene. BMC Pediatrics 2025; 25(1) doi: 10.1186/s12887-025-05980-3
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| 9 |
NR1H4 disease: rapidly progressing neonatal intrahepatic cholestasis and early death. Orphanet Journal of Rare Diseases 2024; 19(1) doi: 10.1186/s13023-024-03166-1
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| 10 |
Abdullatif Bakır, Vehap Topçu, Büşranur Çavdarlı. The molecular landscape of progressive familial intrahepatic cholestasis in Turkey: Defining the molecular profiles and expanding the variant spectrum. Annals of Human Genetics 2022; 86(3): 119 doi: 10.1111/ahg.12456
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| 11 |
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| 12 |
Q Zi, P Li, J Lei, X Qu, C He, Y Yao, X Zou, S Guo. Identification of Genes Affected Blue Eggshell Coloration in Xuefeng Black-Bone Chickens. Brazilian Journal of Poultry Science 2024; 26(1) doi: 10.1590/1806-9061-2022-1729
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| 13 |
Roman A. Gudkov, Andrey V. Dmitriyev, Natal'ya V. Fedina, Valeriya I. Petrova, Tat'yana A. Teryokhina, Alina E. Sologub. Differential Diagnosis of Conjugated Hyperbilirubinemia in Infancy (Literature Review). I.P. Pavlov Russian Medical Biological Herald 2024; 32(2): 315 doi: 10.17816/PAVLOVJ188846
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| 14 |
Tiangang Li, John Y.L. Chiang. Bile Acid Signaling in Metabolic and Inflammatory Diseases and Drug Development. Pharmacological Reviews 2024; 76(6): 1221 doi: 10.1124/pharmrev.124.000978
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| 15 |
Benjamin J. Wilkins, Kathleen M. Loomes. Pathology of Pediatric Gastrointestinal and Liver Disease. 2024; : 479 doi: 10.1007/978-3-031-62589-3_11
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| 16 |
Jan C. Kamp, Naomi N. Kappe, Carlos Fernández Moro, Jan Fuge, Mark P. Kuehnel, Sabine Wrenger, Tobias Welte, Bart van Hoek, Danny D. Jonigk, Padmini P. S. J. Khedoe, Pavel Strnad, Mikael Björnstedt, Jan Stolk, Sabina Janciauskiene, Antal Nemeth. Fibrosis-Related Gene Profiling in Liver Biopsies of PiZZ α1-Antitrypsin Children with Different Clinical Courses. International Journal of Molecular Sciences 2023; 24(3): 2485 doi: 10.3390/ijms24032485
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| 17 |
Ikuo Tomioka, Chihiro Ota, Yuka Tanahashi, Kayoko Ikegami, Ayaka Ishihara, Nanami Kohri, Hiroshi Fujii, Kanako Morohaku. Loss of the DNA-binding domain of the farnesoid X receptor gene causes severe liver and kidney injuries. Biochemical and Biophysical Research Communications 2024; 721: 150125 doi: 10.1016/j.bbrc.2024.150125
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