ArticleAmerican journal of human genetics2002
Familial deafness, congenital heart defects, and posterior embryotoxon caused by cysteine substitution in the first epidermal-growth-factor-like domain of jagged 1.
Article in American journal of human genetics, 2002. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
29 citing papers in PubMed, 69 citations in OpenAlex.
- Likelihood-based calibration improves the clinical utility of JAG1 functional data for variant classification.American journal of human genetics · 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
- Novel De Novo DLL4 Missense and Highly Accurate Protein Structure Prediction in Adams-Oliver Type 6 Syndrome.Clinical case reports · 2025Article
- ProteinMolecules (Basel, Switzerland) · 2025Review
- Jag1 represses Notch activation in lateral supporting cells and inhibits an outer hair cell fate in the medial cochlea.Development (Cambridge, England) · 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
- From phenotype to mechanism: Prenatal spectrum of NKAP mutation-related disorder and its pathogenesis inducing congenital heart disease.Journal of cellular and molecular medicine · 2024Article
- Article
- Biomedical engineering approaches for the delivery of JAGGED1 as a potential tissue regenerative therapy.Frontiers in bioengineering and biotechnology · 2023Review
- Alagille Syndrome: A Case Report.Indian journal of otolaryngology and head and neck surgery : official publication of the Association of Otolaryngologists of India · 2022Article
- Development and evolution of the vestibular apparatuses of the inner ear.Journal of anatomy · 2021Review
- A form of muscular dystrophy associated with pathogenic variants in JAG2.American journal of human genetics · 2021Article
- Notch signaling: Its essential roles in bone and craniofacial development.Genes & diseases · 2021Review
- Uncovering the secreted signals and transcription factors regulating the development of mammalian middle ear ossicles.Developmental dynamics : an official publication of the American Association of Anatomists · 2020Review
- Alagille syndrome mutation update: Comprehensive overview of JAG1 and NOTCH2 mutation frequencies and insight into missense variant classification.Human mutation · 2019Article
- Microarray analysis reveals key genes and pathways in Tetralogy of Fallot.Molecular medicine reports · 2017Article
- Requirement for Jagged1-Notch2 signaling in patterning the bones of the mouse and human middle ear.Scientific reports · 2017Article
- Frequency of Congenital Heart Diseases in Prelingual Sensory-Neural Deaf Children.Iranian journal of otorhinolaryngology · 2016Article
- Alagille syndrome: clinical perspectives.The application of clinical genetics · 2016Review
- Notch signaling in human development and disease.Seminars in cell & developmental biology · 2012Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
7 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
In the present study, we report a kindred with hearing loss, congenital heart defects, and posterior embryotoxon, segregating as autosomal dominant traits. Six of seven available affected patients manifested mild-to-severe combined hearing loss, predominantly affecting middle frequencies. Two patients were diagnosed with vestibular pathology. All patients had congenital heart defects, including tetralogy of Fallot, ventricular septal defect, or isolated peripheral pulmonic stenosis. No individual in this family met diagnostic criteria for any previously described clinical syndrome. A candidate-gene approach was undertaken and culminated in the identification of a novel Jagged 1 (JAG1) missense mutation (C234Y) in the first cysteine of the first epidermal-growth-factor-like repeat domain of the protein. JAG1 is a cell-surface ligand in the Notch signaling pathway. Mutations in JAG1 have been identified in patients with Alagille syndrome. Our findings revealed a unique phenotype with highly penetrant deafness, posterior embryotoxon, and congenital heart defects but with variable expressivity in a large kindred, which demonstrates that mutation in JAG1 can cause hearing loss.
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.