ReviewCancers2022
Genetics in Familial Intrahepatic Cholestasis: Clinical Patterns and Development of Liver and Biliary Cancers: A Review of the Literature.
Review in Cancers, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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
16 citing papers in PubMed, 23 citations in OpenAlex.
- Novel genetic variants and atypical phenotypes in pediatric progressive familial intrahepatic cholestasis.Pediatric research · 2026Article
- Use of Next-Generation Sequencing and Whole-Exome Sequencing in the Diagnosis of Adult-Onset Familial Intrahepatic Cholestasis: Challenges in Interpreting Variants of Uncertain Significance.Diagnostics (Basel, Switzerland) · 2026Review
- Association of p-glycoprotein and bile salt export pump gene polymorphisms with advanced liver disease in hepatitis C virus infected patients.Memorias do Instituto Oswaldo Cruz · 2026Article
- The Roles and Clinical Significance of Major Hepatic-Derived Metabolites in Hepatocellular Carcinoma.Journal of gastroenterology and hepatology · 2025Review
- New hope in treating progressive familial intrahepatic cholestasis in children.World journal of hepatology · 2025Review
- Intrahepatic cholestasis of pregnancy.Nature reviews. Disease primers · 2025Review
- Genetic Variants and Long-Term Outcomes in Korean Children with Progressive Familial Intrahepatic Cholestasis.Pediatric gastroenterology, hepatology & nutrition · 2025Article
- Report of a missense TJP2 variant associated to PFIC4 with a pronounced phenotypic variability: Focus on the structural effects on the protein level.Journal of human genetics · 2025Article
- Hepatic Nuclear Receptors in Cholestasis-to-Cholangiocarcinoma Pathology.The American journal of pathology · 2025Review
- Genotypes and different clinical variants between children and adults in progressive familial intrahepatic cholestasis: a state-of-the-art review.Orphanet journal of rare diseases · 2025Review
- Opinion paper on the diagnosis and treatment of progressive familial intrahepatic cholestasis.JHEP reports : innovation in hepatology · 2024Article
- Silenced LASP1 interacts with DNMT1 to promote TJP2 expression and attenuate articular cartilage injury in mice by suppressing TJP2 methylation.The Kaohsiung journal of medical sciences · 2023Article
- Outcomes of 38 patients with PFIC3: Impact of genotype and of response to ursodeoxycholic acid therapy.JHEP reports : innovation in hepatology · 2023Article
- Molecular and Clinical Links between Drug-Induced Cholestasis and Familial Intrahepatic Cholestasis.International journal of molecular sciences · 2023Review
- Progressive Familial Intrahepatic Cholestasis: A Descriptive Study in a Tertiary Care Center.International journal of hepatology · 2023Article
- Neurofibroma Development in Neurofibromatosis Type 1: Insights from Cellular Origin and Schwann Cell Lineage Development.Cancers · 2022Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
7 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The family of inherited intrahepatic cholestasis includes autosomal recessive cholestatic rare diseases of childhood involved in bile acids secretion or bile transport defects. Specific genetic pathways potentially cause many otherwise unexplained cholestasis or hepatobiliary tumours in a healthy liver. Lately, next-generation sequencing and whole-exome sequencing have improved the diagnostic procedures of familial intrahepatic cholestasis (FIC), as well as the discovery of several genes responsible for FIC. Moreover, mutations in these genes, even in the heterozygous status, may be responsible for cryptogenic cholestasis in both young and adults. Mutations in FIC genes can influence serum and hepatic levels of bile acids. Experimental studies on the
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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.