ArticleHuman mutation2010
Jagged1 (JAG1) mutations in patients with tetralogy of Fallot or pulmonic stenosis.
Article in Human mutation, 2010. 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, 132 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
- Phenocopies of 22q11.2DS: revealing genetic diversity in clinically suspected 22q11.2 deletion syndrome.Molecular and cellular pediatrics · 2026Article
- Novel De Novo DLL4 Missense and Highly Accurate Protein Structure Prediction in Adams-Oliver Type 6 Syndrome.Clinical case reports · 2025Article
- Genetic advances in sporadic tetralogy of Fallot: discovery of novel HAND1 promoter variants.Pediatric research · 2025Article
- Case Report: a novel missense variant ofFrontiers in genetics · 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
- Valvulopathies and Genetics: Where are We?Reviews in cardiovascular medicine · 2024Review
- Human Genetics of Tetralogy of Fallot and Double-Outlet Right Ventricle.Advances in experimental medicine and biology · 2024Review
- MiRNAs regulate cell communication in osteogenesis-angiogenesis coupling during bone regeneration.Molecular biology reports · 2023Review
- Clinical Characterization of Alagille Syndrome in Patients with Cholestatic Liver Disease.International journal of molecular sciences · 2023Article
- Insights into the genetic architecture of congenital heart disease from animal modeling.Zoological research · 2023Review
- Biomedical engineering approaches for the delivery of JAGGED1 as a potential tissue regenerative therapy.Frontiers in bioengineering and biotechnology · 2023Review
- High prevalence of deleterious mutations in concomitant nonsyndromic cleft and outflow tract heart defects.American journal of medical genetics. Part A · 2022Article
- WDR62 variants contribute to congenital heart disease by inhibiting cardiomyocyte proliferation.Clinical and translational medicine · 2022Article
- Notch Signaling in Vascular Endothelial and Mural Cell Communications.Cold Spring Harbor perspectives in medicine · 2022Article
- Endocardial Regulation of Cardiac Development.Journal of cardiovascular development and disease · 2022Review
- Article
- PTPN11 Gene Mutations and Its Association with the Risk of Congenital Heart Disease.Disease markers · 2022Article
1 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
13 authors at 5 institutions in 1 country.
Funding
Abstract
Mutations in the Notch pathway ligand Jagged1 (JAG1) cause Alagille syndrome (AGS), as well as cardiac defects in seemingly nonsyndromic individuals. To estimate the frequency of JAG1 mutations in cases with right-sided cardiac defects not otherwise diagnosed with AGS, we screened 94 cases with tetralogy of Fallot (TOF) and 50 with pulmonic stenosis/peripheral pulmonary stenosis (PS/PPS) or pulmonary valve atresia with intact ventricular septum (PA) for mutations. Sequence changes were identified in three TOF and three PS/PPS/PA patients, that were not present in 100 controls. We identified one frameshift and two missense mutations in the TOF cases, and one frameshift and two missense mutations in cases with PS/PPS/PA. The four missense mutations were assayed for their effect on protein localization, posttranslational modification, and ability to activate Notch signaling. The missense mutants displayed heterogeneous behavior in these assays, some with complete haploinsufficiency, suggesting that there are additional modifiers leading to organ specific features. We identified functionally significant mutations in 2% (2/94) of TOF patients and 4% (2/50) of PS/PPS/PA patients. Patients with right-sided cardiac defects should be carefully screened for features of AGS or a family history of cardiac defects that might suggest the presence of a JAG1 mutation.
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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.