ReviewJournal of medical genetics2005
Genetics of familial intrahepatic cholestasis syndromes.
Review in Journal of medical genetics, 2005. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
21 citing papers in PubMed, 71 citations in OpenAlex.
- Beyond the Pump: The Evolving Molecular Landscape of Intrahepatic Cholestasis.Diagnostics (Basel, Switzerland) · 2026Review
- Implantation of nasobiliary drainage in treatment of severe episodes of benign recurrent intrahepatic cholestasis (BRIC) in pediatric patients.Clinical and experimental hepatology · 2025Review
- [Clinical and molecular genetic analysis of nine patients with neonatal Dubin-Johnson syndrome].Zhonghua gan zang bing za zhi = Zhonghua ganzangbing zazhi = Chinese journal of hepatology · 2025Article
- 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.Orphanet journal of rare diseases · 2022Review
- Novel Gene-Correction-Based Therapeutic Modalities for Monogenic Liver Disorders.Bioengineering (Basel, Switzerland) · 2022Review
- Combination of Novel c.3484G> T/p.Glu162Ter Variant inJournal of pediatric genetics · 2020Article
- Cryptogenic cholestasis in young and adults: ATP8B1, ABCB11, ABCB4, and TJP2 gene variants analysis by high-throughput sequencing.Journal of gastroenterology · 2018Article
- New Insights in Genetic Cholestasis: From Molecular Mechanisms to Clinical Implications.Canadian journal of gastroenterology & hepatology · 2018Review
- [Clinical features and VPS33B mutations in a family affected by arthrogryposis, renal dysfunction, and cholestasis syndrome].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2017Article
- [Intracranial hemorrhage secondary to vitamin K deficiency in an infant despite oral vitamin K prophylaxis : Also a challenge for the anesthesiologist].Der Anaesthesist · 2017Article
- Current and future therapies for inherited cholestatic liver diseases.World journal of gastroenterology · 2017Review
- [One case of progressive familial intrahepatic cholestasis type 2].Zhonghua gan zang bing za zhi = Zhonghua ganzangbing zazhi = Chinese journal of hepatology · 2016Article
- [Clinical feature and ATP8B1 mutation analysis of a patient with progressive familial intrahepatic cholestasis type I].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2016Article
- Exon-skipping and mRNA decay in human liver tissue: molecular consequences of pathogenic bile salt export pump mutations.Scientific reports · 2016Article
- The Features of GGT in Patients with ATP8B1 or ABCB11 Deficiency Improve the Diagnostic Efficiency.PloS one · 2016Article
- Long-term therapy of a patient with summerskill-walshe-tygstrup syndrome by applying prometheus® liver dialysis: a case report.Case reports in gastroenterology · 2012Article
- Living-donor liver transplantation for progressive familial intrahepatic cholestasis.World journal of surgery · 2011Article
- Activity of the bile salt export pump (ABCB11) is critically dependent on canalicular membrane cholesterol content.The Journal of biological chemistry · 2009Article
- Progressive familial intrahepatic cholestasis.Orphanet journal of rare diseases · 2009Review
- Single-step analysis of individual conjugated bile acids in human bile using 1H NMR spectroscopy.Lipids · 2006Article
Corrections and comments
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Authors and funding
3 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Bile acids and bile salts have essential functions in the liver and in the small intestine. Their synthesis in the liver provides a metabolic pathway for the catabolism of cholesterol and their detergent properties promote the solubilisation of essential nutrients and vitamins in the small intestine. Inherited conditions that prevent the synthesis of bile acids or their excretion cause cholestasis, or impaired bile flow. These disorders generally lead to severe human liver disease, underscoring the essential role of bile acids in metabolism. Recent advances in the elucidation of gene defects underlying familial cholestasis syndromes has greatly increased knowledge about the process of bile flow. The expression of key proteins involved in bile flow is tightly regulated by transcription factors of the nuclear hormone receptor family, which function as sensors of bile acids and cholesterol. Here we review the genetics of familial cholestasis disorders, the functions of the affected genes in bile flow, and their regulation by bile acids and cholesterol.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.