D A Piccoli
Affiliation: The Children's Hospital of Philadelphia
- Alagille syndrome and the Jagged1 geneD A Piccoli
Division of Gastroenterology and Nutrition, Children s Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA
Semin Liver Dis 21:525-34. 2001..These mutations include total gene deletions as well as mutations (frameshift, missense, and nonsense) in almost all regions of the 26 exons of the Jagged1 gene. This review focuses on clinical and genetic features of Alagille syndrome...
- Mutation analysis of Jagged1 (JAG1) in Alagille syndrome patientsR P Colliton
Division of Human Genetics, The Children s Hospital of Philadelphia, Philadelphia, PA 19104, USA
Hum Mutat 17:151-2. 2001..Six of the missense mutations are novel. As has been reported previously, there is no apparent relationship between genotype and clinical phenotype...
- Consequences of JAG1 mutationsB M Kamath
Division of Gastroenterology, The Children s Hospital of Philadelphia, The University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA
J Med Genet 40:891-5. 2003..Alagille syndrome (AGS) is a multi-system, autosomal dominant disorder with highly variable expressivity, caused by mutations within the Jagged1 (JAG1) gene...
- Spectrum and frequency of jagged1 (JAG1) mutations in Alagille syndrome patients and their familiesI D Krantz
Division of Human Genetics, Children s Hospital of Philadelphia, Philadelphia, PA 19104, USA
Am J Hum Genet 62:1361-9. 1998..The mechanism by which these missense mutations lead to the disease is not yet understood; however, they suggest that mechanisms other than haploinsufficiency may result in the AGS phenotype...
- Single toxin detection is inadequate to diagnose Clostridium difficile diarrhea in pediatric patientsH A Kader
Division of Gastroenterology and Nutrition, Children s Hospital of Philadelphia, Philadelphia, Pennsylvania, USA
Gastroenterology 115:1329-34. 1998..We questioned this diagnostic approach when patients had positive results for C. difficile at our institution, but initially had tested negative at outside laboratories...
- Failure of single-toxin assays to detect clostridium difficile infection in pediatric inflammatory bowel diseaseJ E Markowitz
Divisions of Gastroenterology and Nutrition and Clinical Laboratories, The Children's Hospital of Philadelphia, Pennsylvania 19104, USA
Am J Gastroenterol 96:2688-90. 2001..Despite this, many pediatric hospitals do not routinely use both toxin assays to diagnose C. difficile infection. When infection is suspected, assays for C. difficile toxin A and toxin B should be requested...
- Mutations in the human Jagged1 gene are responsible for Alagille syndromeT Oda
Laboratory of Gene Transfer, National Human Genome Research Institutes of Health, Bethesda, Maryland 20892 4442, USA
Nat Genet 16:235-42. 1997..We conclude that AGS is caused by haploinsufficiency of JAG1...
- The expression of Jagged1 in the developing mammalian heart correlates with cardiovascular disease in Alagille syndromeK M Loomes
Division of Human Genetics, The Children s Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia 19104, USA
Hum Mol Genet 8:2443-9. 1999..These data are consistent with an important role for JAG1 and Notch signaling in early mammalian cardiac development...
- Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1L Li
Stowers Institute for Medical Research, Department of Molecular Biotechnology, University of Washington, Seattle 98195 USA
Nat Genet 16:243-51. 1997....
- Jagged1 (JAG1) mutations in Alagille syndrome: increasing the mutation detection rateD M Warthen
Division of Human Genetics and Molecular Biology, The Children s Hospital of Philadelphia and University of Pennsylvania School of Medicine, 19104, USA
Hum Mutat 27:436-43. 2006..Our results suggest that more aggressive screening may similarly increase the rate of mutation detection in other dominant and recessive disorders...