ReviewEuropean journal of human genetics : EJHG2012
Alagille syndrome: pathogenesis, diagnosis and management.
Review in European journal of human genetics : EJHG, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 168 papers, 5 of them syntheses that pooled it.
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
168 citing papers in PubMed, 5 syntheses or guidelines pooled it, 390 citations in OpenAlex.
- The burden of Alagille syndrome: uncovering the potential of emerging therapeutics - a comprehensive systematic literature review.Journal of comparative effectiveness research · 2025Pooled it
- Liver organoids: From fabrication to application in liver diseases.Frontiers in physiology · 2022Pooled it
- Outcomes of Alagille syndrome following the Kasai operation: a systematic review and meta-analysis.Pediatric surgery international · 2018Pooled it
- Systematic Review: The Epidemiology, Natural History, and Burden of Alagille Syndrome.Journal of pediatric gastroenterology and nutrition · 2018Pooled it
- Mammalian Polycistronic mRNAs and Disease.Trends in genetics : TIG · 2017Pooled it
- Article
- Advancing precision hepatology for rare paediatric liver diseases.European journal of pediatrics · 2026Review
- Clinical and genetic characteristics of a large cohort of children with Alagille syndrome: identification of 57 new variants in the JAG1 gene.Journal of human genetics · 2026Article
- GGT-Normal Cholestasis in an Older Child: A Suspected Case of Benign Recurrent Intrahepatic Cholestasis From Syria.Clinical case reports · 2026Article
- Jagged-1 mutation is associated with congenital heart defects: a case report.Journal of medical case reports · 2026Article
- The disease burden and health-related quality of life in Chinese children with genetic cholestatic liver diseases: a cross-sectional study of progressive familial intrahepatic cholestasis and Alagille syndrome.Orphanet journal of rare diseases · 2026Article
- AGEX: a comprehensive database of clinically relevant genetic variants associated with Alagille syndrome across diverse populations.Hepatology international · 2026Article
- Quantitative 3D Imaging of Mouse and Human Intrahepatic Bile Ducts in Homeostasis and Liver Injury.The American journal of pathology · 2026Article
- Real-world use of maralixibat in biliary atresia: a case series.Frontiers in pediatrics · 2026Article
- Clinical and Molecular Genetic Study of an Alagille Syndrome Type 1 Case.Advances in experimental medicine and biology · 2026Article
- Papilledema and Pseudopapilledema in Alagille Syndrome: A Case Report.Neuro-ophthalmology (Aeolus Press) · 2026Article
- Notch signaling in liver diseases: mechanistic insights and therapeutic implications.Frontiers in cell and developmental biology · 2026Review
- Congenital Scoliosis: A Comprehensive Review of Diagnosis, Management, and Surgical Decision-Making in Pediatric Spinal Deformity-An Expanded Narrative Review.Journal of clinical medicine · 2025Review
- Article
- Odevixibat improves pruritus and bile acid level in Alagille syndrome: A case report.World journal of gastrointestinal pharmacology and therapeutics · 2025Article
108 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Alagille syndrome (ALGS), also known as arteriohepatic dysplasia, is a multisystem disorder due to defects in components of the Notch signalling pathway, most commonly due to mutation in JAG1 (ALGS type 1), but in a small proportion of cases mutation in NOTCH2 (ALGS type 2). The main clinical and pathological features are chronic cholestasis due to paucity of intrahepatic bile ducts, peripheral pulmonary artery stenosis, minor vertebral segmentation anomalies, characteristic facies, posterior embryotoxon/anterior segment abnormalities, pigmentary retinopathy, and dysplastic kidneys. It follows autosomal dominant inheritance, but reduced penetrance and variable expression are common in this disorder, and somatic/germline mosaicism may also be relatively frequent. This review discusses the clinical features of ALGS, including long-term complications, the clinical and molecular diagnosis, and management.
Indexed as
Identifiers
What OpenQuestion holds
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.