ArticleJournal of medical genetics2003
Consequences of JAG1 mutations.
Article in Journal of medical genetics, 2003. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 66 papers.
What it found
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Who cites it
66 citing papers in PubMed, 186 citations in OpenAlex.
- Pathogenic variants in COL4A3, COL4A4, JAG1, and NPHS2 genes in focal segmental glomerulosclerosis: Insights from targeted gene panel sequencing.Molecular genetics and metabolism reports · 2026Article
- The Brazilian Alagille syndrome study: New insights from a multicenter national cohort.JPGN reports · 2026Article
- Alagille syndrome case series: five new variants and two large deletions.European journal of pediatrics · 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
- Syndromic Congenital Heart Disease Diagnosed in Adulthood: A Reminder of the Phenotypic Variability of Alagille Syndrome.Case reports in cardiology · 2026Article
- 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
- Generation of induced pluripotent stem cell lines TRNDi037-A and TRNDi038-A from two patients with Alagille syndrome carrying heterozygous JAG1 mutations.Stem cell research · 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
- Association of Very RareGenes · 2024Article
- Diagnosis and management of Alagille and progressive familial intrahepatic cholestasis.Hepatology communications · 2023Article
- Poly-hydroxylated bile acids and their prognostic roles in Alagille syndrome.World journal of pediatrics : WJP · 2023Article
- Integration of deep learning-based histopathology and transcriptomics reveals key genes associated with fibrogenesis in patients with advanced NASH.Cell reports. Medicine · 2023Article
- Clinical and Genetic Characteristics of Alagille Syndrome in Adults.Journal of clinical and translational hepatology · 2023Article
- Biomedical engineering approaches for the delivery of JAGGED1 as a potential tissue regenerative therapy.Frontiers in bioengineering and biotechnology · 2023Review
- 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
- Paediatric cholestatic liver disorders for the adult gastroenterologist: a practical guide.Frontline gastroenterology · 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
6 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
5 authors at 3 institutions in 1 country.
Funding
Abstract
backgroundAlagille syndrome (AGS) is a multi-system, autosomal dominant disorder with highly variable expressivity, caused by mutations within the Jagged1 (JAG1) gene.
methodsWe studied 53 mutation positive relatives of 34 AGS probands to ascertain the frequency of clinical findings in JAG1 mutation carriers.
resultsEleven of 53 (21%) mutation positive relatives had clinical features that would have led to a diagnosis of AGS. Seventeen of the 53 (32%) relatives had mild features of AGS, revealed only after targeted evaluation following the diagnosis of a proband in their family. Twenty five of the 53 (47%) mutation positive relatives did not meet clinical criteria, and two of these individuals had no features consistent with AGS at all. The frequency of cardiac and liver disease was notably lower in the relatives than in the probands, characterising the milder end of the phenotypic spectrum. The characteristic facies of AGS was the feature with the highest penetrance, occurring almost universally in mutation positive probands and relatives.
conclusionsThis study has implications for genetic counselling of families with AGS and JAG1 mutations.
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