D A Piccoli

Summary

Affiliation: The Children's Hospital of Philadelphia
Country: USA

Publications

  1. ncbi request reprint Alagille syndrome and the Jagged1 gene
    D A Piccoli
    Division of Gastroenterology and Nutrition, Children s Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA
    Semin Liver Dis 21:525-34. 2001
  2. ncbi request reprint Mutation analysis of Jagged1 (JAG1) in Alagille syndrome patients
    R P Colliton
    Division of Human Genetics, The Children s Hospital of Philadelphia, Philadelphia, PA 19104, USA
    Hum Mutat 17:151-2. 2001
  3. pmc Consequences of JAG1 mutations
    B 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
  4. pmc Spectrum and frequency of jagged1 (JAG1) mutations in Alagille syndrome patients and their families
    I D Krantz
    Division of Human Genetics, Children s Hospital of Philadelphia, Philadelphia, PA 19104, USA
    Am J Hum Genet 62:1361-9. 1998
  5. ncbi request reprint Single toxin detection is inadequate to diagnose Clostridium difficile diarrhea in pediatric patients
    H A Kader
    Division of Gastroenterology and Nutrition, Children s Hospital of Philadelphia, Philadelphia, Pennsylvania, USA
    Gastroenterology 115:1329-34. 1998
  6. ncbi request reprint Failure of single-toxin assays to detect clostridium difficile infection in pediatric inflammatory bowel disease
    J 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
  7. ncbi request reprint Mutations in the human Jagged1 gene are responsible for Alagille syndrome
    T Oda
    Laboratory of Gene Transfer, National Human Genome Research Institutes of Health, Bethesda, Maryland 20892 4442, USA
    Nat Genet 16:235-42. 1997
  8. ncbi request reprint The expression of Jagged1 in the developing mammalian heart correlates with cardiovascular disease in Alagille syndrome
    K 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
  9. ncbi request reprint Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1
    L Li
    Stowers Institute for Medical Research, Department of Molecular Biotechnology, University of Washington, Seattle 98195 USA
    Nat Genet 16:243-51. 1997
  10. ncbi request reprint Jagged1 (JAG1) mutations in Alagille syndrome: increasing the mutation detection rate
    D 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

Collaborators

  • H A Kader
  • Lian Li
  • Kenji Okajima
  • Nancy Bettina Spinner
  • I D Krantz
  • B M Kamath
  • D M Warthen
  • R P Colliton
  • L Bason
  • J E Markowitz
  • K M Loomes
  • J J D Morrissette
  • E C Moore
  • P Sanchez
  • A Genin
  • T Oda
  • F M Lu
  • R N Baldassano
  • P Mamula
  • K A Brown
  • H R Drott
  • R J Oakey
  • J Morabito
  • L A Underkoffler
  • S Gottlieb
  • H S Baldwin
  • E B Rand
  • P S Meltzer
  • S C Chandrasekharappa
  • B L Pike
  • A G Elkahloun
  • F S Collins

Detail Information

Publications10

  1. ncbi request reprint Alagille syndrome and the Jagged1 gene
    D 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...
  2. ncbi request reprint Mutation analysis of Jagged1 (JAG1) in Alagille syndrome patients
    R 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...
  3. pmc Consequences of JAG1 mutations
    B 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...
  4. pmc Spectrum and frequency of jagged1 (JAG1) mutations in Alagille syndrome patients and their families
    I 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...
  5. ncbi request reprint Single toxin detection is inadequate to diagnose Clostridium difficile diarrhea in pediatric patients
    H 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...
  6. ncbi request reprint Failure of single-toxin assays to detect clostridium difficile infection in pediatric inflammatory bowel disease
    J 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...
  7. ncbi request reprint Mutations in the human Jagged1 gene are responsible for Alagille syndrome
    T 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...
  8. ncbi request reprint The expression of Jagged1 in the developing mammalian heart correlates with cardiovascular disease in Alagille syndrome
    K 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...
  9. ncbi request reprint Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1
    L Li
    Stowers Institute for Medical Research, Department of Molecular Biotechnology, University of Washington, Seattle 98195 USA
    Nat Genet 16:243-51. 1997
    ....
  10. ncbi request reprint Jagged1 (JAG1) mutations in Alagille syndrome: increasing the mutation detection rate
    D 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...