Document Detail

The genetics and ocular findings of Alagille syndrome.
MedLine Citation:
PMID:  18097983     Owner:  NLM     Status:  MEDLINE    
Alagille syndrome is an autosomal dominant disorder caused by mutations in the JAG1 gene. The JAG1 gene encodes a ligand for the Notch receptor and thus is part of a critical signaling pathway during development. The ophthalmologist can play an important role in the diagnosis of Alagille syndrome by identifying the characteristic ocular findings. These include a posterior embryotoxon, optic disc drusen, angulated retinal vessels, and a pigmentary retinopathy. Despite recent advances in the genetics of Alagille syndrome, the correlations between genotypes and phenotypes remain incompletely defined.
Ben J Kim; Anne B Fulton
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Publication Detail:
Type:  Journal Article; Review    
Journal Detail:
Title:  Seminars in ophthalmology     Volume:  22     ISSN:  0882-0538     ISO Abbreviation:  Semin Ophthalmol     Publication Date:    2007 Oct-Dec
Date Detail:
Created Date:  2007-12-21     Completed Date:  2008-02-05     Revised Date:  2008-05-28    
Medline Journal Info:
Nlm Unique ID:  8610759     Medline TA:  Semin Ophthalmol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  205-10     Citation Subset:  IM    
Department of Ophthalmology, Massachusetts Eye and Ear Infirmary, Harvard Medical School, 243 Charles Street, Boston, MA 02114, USA.
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MeSH Terms
Alagille Syndrome / diagnosis,  genetics*
Anterior Eye Segment / abnormalities*
Calcium-Binding Proteins / genetics
Eye Abnormalities / diagnosis,  genetics*
Intercellular Signaling Peptides and Proteins / genetics
Membrane Proteins / genetics
Optic Disk / abnormalities*
Receptor, Notch1 / genetics
Retinitis Pigmentosa / genetics*
Signal Transduction / physiology
Reg. No./Substance:
0/Calcium-Binding Proteins; 0/Intercellular Signaling Peptides and Proteins; 0/Ligands; 0/Membrane Proteins; 0/NOTCH1 protein, human; 0/Receptor, Notch1; 134324-36-0/Serrate proteins

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