ArticleJournal of applied genetics2014
Spectrum of JAG1 gene mutations in Polish patients with Alagille syndrome.
Article in Journal of applied genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 33 citations in OpenAlex.
- Alagille syndrome case series: five new variants and two large deletions.European journal of pediatrics · 2026Article
- Clinical, pathological and genetic characteristics of 17 unrelated children with Alagille Syndrome.BMC pediatrics · 2024Article
- Hypothyroidism in Patients with Down Syndrome: Prevalence and Association with Congenital Heart Defects.Children (Basel, Switzerland) · 2024Article
- Clinical Characterization of Alagille Syndrome in Patients with Cholestatic Liver Disease.International journal of molecular sciences · 2023Article
- 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
- NovelInternational journal of molecular sciences · 2019Article
- [Liver dysfunction for 8 years with hypertension for 1 week in an 8-year-old girl].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2019Article
- Clinical Features and Genetic Analysis of Pediatric Patients with Alagille Syndrome Presenting Initially with Liver Function Abnormalities.Current medical science · 2018Article
- [Identification of a novel JAG1 mutation in a family affected by Alagille syndrome].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2016Article
- Alagille syndrome and a JAG1 mutation: 41 cases of experience at a single center.Korean journal of pediatrics · 2015Article
- MicroRNAs regulate bone development and regeneration.International journal of molecular sciences · 2015Review
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Authors and funding
10 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Alagille syndrome (ALGS) is an autosomal dominant disorder characterized by developmental abnormalities in several organs including the liver, heart, eyes, vertebrae, kidneys, and face. The majority (90-94%) of ALGS cases are caused by mutations in the JAG1 (JAGGED1) gene, and in a small percent of patients (∼1%) mutations in the NOTCH2 gene have been described. Both genes are involved in the Notch signaling pathway. To date, over 440 different JAG1 gene mutations and ten NOTCH2 mutations have been identified in ALGS patients. The present study was conducted on a group of 35 Polish ALGS patients and revealed JAG1 gene mutations in 26 of them. Twenty-three different mutations were detected including 13 novel point mutations and six large deletions affecting the JAG1 gene. Review of all mutations identified to date in individuals from Poland allowed us to propose an effective diagnostic strategy based on the mutations identified in the reported patients of Polish descent. However, the distribution of mutations seen in this cohort was not substantively different than the mutation distribution in other reported populations.
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