ArticleAmerican journal of human genetics1998
Spectrum and frequency of jagged1 (JAG1) mutations in Alagille syndrome patients and their families.
Article in American journal of human genetics, 1998. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 61 papers.
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Who cites it
61 citing papers in PubMed, 232 citations in OpenAlex.
- Ultra high-resolution gene centric genomic structural analysis of a non-syndromic congenital heart defect, Tetralogy of Fallot.PloS one · 2014Trial
- Likelihood-based calibration improves the clinical utility of JAG1 functional data for variant classification.American journal of human genetics · 2026Article
- Article
- Phenotypic Divergence of JAG1- and NOTCH2-Associated Alagille Syndrome & Disease-Specific NOTCH2 Variant Classification Guidelines.Liver international : official journal of the International Association for the Study of the Liver · 2025Article
- Clinical, pathological and genetic characteristics of 17 unrelated children with Alagille Syndrome.BMC pediatrics · 2024Article
- Functional characterization of 2,832 JAG1 variants supports reclassification for Alagille syndrome and improves guidance for clinical variant interpretation.American journal of human genetics · 2024Article
- A child with chronic kidney disease and hepatic dysfunction: Answers.Pediatric nephrology (Berlin, Germany) · 2023Article
- Management of adults with Alagille syndrome.Hepatology international · 2023Review
- Clinical, Laboratory, Radiological, and Genetic Characteristics of Pediatric Patients with Alagille Syndrome.Advanced biomedical research · 2023Article
- Different clinical and genetic features of Alagille patients with progressive diseaseJGH open : an open access journal of gastroenterology and hepatology · 2022Article
- Multidisciplinary Management of Alagille Syndrome.Journal of multidisciplinary healthcare · 2022Review
- Long-term follow-up of a patient with JAG1-associated retinopathy.Documenta ophthalmologica. Advances in ophthalmology · 2021Article
- Characterization of the Spectrum of Ophthalmic Changes in Patients With Alagille Syndrome.Investigative ophthalmology & visual science · 2021Observational
- Two Novel Mutations in theDiagnostics (Basel, Switzerland) · 2021Article
- Alagille syndrome and non-syndromic paucity of the intrahepatic bile ducts.Translational gastroenterology and hepatology · 2021Review
- Alagille Syndrome: Diagnostic Challenges and Advances in Management.Diagnostics (Basel, Switzerland) · 2020Review
- Sox9 Is a Modifier of the Liver Disease Severity in a Mouse Model of Alagille Syndrome.Hepatology (Baltimore, Md.) · 2020Article
- A boy with Alagille syndrome coexisting with mid-aortic syndrome and renovascular hypertension.Journal of cardiology cases · 2020Article
- NovelInternational journal of molecular sciences · 2019Article
- Alagille syndrome mutation update: Comprehensive overview of JAG1 and NOTCH2 mutation frequencies and insight into missense variant classification.Human mutation · 2019Article
1 more citing papers are in PubMed but not listed here.
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Authors and funding
7 authors at 3 institutions in 1 country.
Funding
Abstract
Alagille syndrome (AGS) is a dominantly inherited disorder characterized by liver disease in combination with heart, skeletal, ocular, facial, renal, and pancreatic abnormalities. We have recently demonstrated that Jagged1 (JAG1) is the AGS gene. JAG1 encodes a ligand in the Notch intercellular signaling pathway. AGS is the first developmental disorder to be associated with this pathway and the first human disorder caused by a Notch ligand. We have screened 54 AGS probands and family members to determine the frequency of mutations in JAG1. Three patients (6%) had deletions of the entire gene. Of the remaining 51 patients, 35 (69%) had mutations within JAG1, identified by SSCP analysis. Of the 35 identified intragenic mutations, all were unique, with the exceptions of a 5-bp deletion in exon 16, seen in two unrelated patients, and a C insertion at base 1618 in exon 9, also seen in two unrelated patients. The 35 intragenic mutations included 9 nonsense mutations (26%); 2 missense mutations (6%); 11 small deletions (31%), 8 small insertions (23%), and 1 complex rearrangement (3%), all leading to frameshifts; and 4 splice-site mutations (11%). The mutations are spread across the coding sequence of the gene within the evolutionarily conserved motifs of the JAG1 protein. There is no phenotypic difference between patients with deletions of the entire JAG1 gene and those with intragenic mutations, which suggests that one mechanism involved in AGS is haploinsufficiency. The two missense mutations occur at the same amino acid residue. The mechanism by which these missense mutations lead to the disease is not yet understood; however, they suggest that mechanisms other than haploinsufficiency may result in the AGS phenotype.
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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.