Journal article
Alagille Syndrome
Clinics in liver disease, v 22(4), pp 625-641
01 Nov 2018
PMID: 30266153
Featured in Collection : UN Sustainable Development Goals @ Drexel
Abstract
Alagille syndrome is a complex multisystem autosomal dominant disorder with a wide variability in penetrance of clinical features. A majority of patients have pathogenic mutations in either the JAG1 gene, encoding a Notch pathway ligand, or the receptor NOTCH2. No genotype-phenotype correlations have been found in any organ system. Liver disease is a major cause of morbidity in this population, whereas cardiac and vascular involvement accounts for most of the mortality. Current therapies are supportive, but the future is promising for the development of targeted interventions to augment Notch pathway signaling in involved tissues.
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Details
- Title
- Alagille Syndrome
- Creators
- Ellen Mitchell - University of Pittsburgh Medical CenterMelissa Gilbert - Children's Hospital of PhiladelphiaKathleen M Loomes - Children's Hospital of Philadelphia
- Publication Details
- Clinics in liver disease, v 22(4), pp 625-641
- Publisher
- Elsevier
- Resource Type
- Journal article
- Language
- English
- Academic Unit
- Pediatrics
- Web of Science ID
- WOS:000449137400002
- Scopus ID
- 2-s2.0-85051963055
- Other Identifier
- 991021838612604721
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- Collaboration types
- Domestic collaboration
- Web of Science research areas
- Gastroenterology & Hepatology