ArticleHuman mutation2019
Alagille syndrome mutation update: Comprehensive overview of JAG1 and NOTCH2 mutation frequencies and insight into missense variant classification.
Article in Human mutation, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT05488067 (The Safety and Efficacy of Atorvastatin on Xanthoma in Alagille Syndrome), which is not on this map. Cited by 88 papers, 1 of them a synthesis 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.
The Safety and Efficacy of Atorvastatin on Xanthoma in Alagille Syndrome
Who cites it
88 citing papers in PubMed, 1 synthesis or guideline pooled it, 140 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
- Indirect treatment comparison of odevixibat and maralixibat for the treatment of cholestatic pruritus in patients with Alagille syndrome.Journal of comparative effectiveness research · 2026Article
- A cardiac-related, promoter-proximal, regulatory element shapes chromatin and JAG1 transcription.Life science alliance · 2026Article
- JAG1 c.1615C > T mutation impairs bile duct regeneration but not differentiation in hepatic organoids derived from a patient with Alagille syndrome.Stem cells translational medicine · 2026Article
- Likelihood-based calibration improves the clinical utility of JAG1 functional data for variant classification.American journal of human genetics · 2026Article
- The Brazilian Alagille syndrome study: New insights from a multicenter national cohort.JPGN reports · 2026Article
- 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
- Alagille syndrome case series: five new variants and two large deletions.European journal of pediatrics · 2026Article
- A Rare Coexistence of Biliary Atresia and Alagille Syndrome in a Neonate: Clinical Implications of Dual Etiology in Neonatal Cholestasis.Diagnostics (Basel, Switzerland) · 2026Article
- [Clinical characteristics and follow-up in children with Alagille syndrome].Zhonghua gan zang bing za zhi = Zhonghua ganzangbing zazhi = Chinese journal of hepatology · 2026Article
- Improved functional JAG1 and NOTCH2 variant testing in patients with clinical or suspected Alagille syndrome using new low-Notch activity cells.Human genetics · 2026Article
- Native liver survival and genetic associations in Korean patients with Alagille syndrome.European journal of pediatrics · 2026Article
- Alagille syndrome caused by p.L2014Vfs*10 in NOTCH2: a case report and review of the literature.Journal of medical case reports · 2026Review
- AGEX: a comprehensive database of clinically relevant genetic variants associated with Alagille syndrome across diverse populations.Hepatology international · 2026Article
- Lipids in kidney diseases: from systemic imbalance to intrarenal alterations of cellular lipid metabolism in rare and common kidney diseases.Journal of molecular medicine (Berlin, Germany) · 2026Review
- Clinical and Molecular Genetic Study of an Alagille Syndrome Type 1 Case.Advances in experimental medicine and biology · 2026Article
- Clinical utility of an evolving cholestasis gene panel in 10,000 children and adults.Frontiers in pediatrics · 2026Article
- Antisense oligonucleotide-mediated upregulation ofMolecular therapy. Nucleic acids · 2025Article
- Rare liver diseases - Etiology, diagnosis and management: A review.Biomolecules & biomedicine · 2025Review
- Article
28 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
14 authors at 2 institutions in 3 countries.
Funding
Abstract
Alagille syndrome is an autosomal dominant disease with a known molecular etiology of dysfunctional Notch signaling caused primarily by pathogenic variants in JAGGED1 (JAG1), but also by variants in NOTCH2. The majority of JAG1 variants result in loss of function, however disease has also been attributed to lesser understood missense variants. Conversely, the majority of NOTCH2 variants are missense, though fewer of these variants have been described. In addition, there is a small group of patients with a clear clinical phenotype in the absence of a pathogenic variant. Here, we catalog our single-center study, which includes 401 probands and 111 affected family members amassed over a 27-year period, to provide updated mutation frequencies in JAG1 and NOTCH2 as well as functional validation of nine missense variants. Combining our cohort of 86 novel JAG1 and three novel NOTCH2 variants with previously published data (totaling 713 variants), we present the most comprehensive pathogenic variant overview for Alagille syndrome. Using this data set, we developed new guidance to help with the classification of JAG1 missense variants. Finally, we report clinically consistent cases for which a molecular etiology has not been identified and discuss the potential for next generation sequencing methodologies in novel variant discovery.
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.