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References

These sources were used to develop the Genetics Home Reference gene summary on the JAG1 gene.

Boyer-Di Ponio J, Wright-Crosnier C, Groyer-Picard MT, Driancourt C, Beau I, Hadchouel M, Meunier-Rotival M. Biological function of mutant forms of JAGGED1 proteins in Alagille syndrome: inhibitory effect on Notch signaling. Hum Mol Genet. 2007 Nov 15;16(22):2683-92. Epub 2007 Aug 24. PubMed citation
Colliton RP, Bason L, Lu FM, Piccoli DA, Krantz ID, Spinner NB. Mutation analysis of Jagged1 (JAG1) in Alagille syndrome patients. Hum Mutat. 2001 Feb;17(2):151-2. PubMed citation
Dufraine J, Funahashi Y, Kitajewski J. Notch signaling regulates tumor angiogenesis by diverse mechanisms. Oncogene. 2008 Sep 1;27(38):5132-7. doi: 10.1038/onc.2008.227. Review. PubMed citation
Entrez Gene
GeneCards
Gene Review: Alagille Syndrome
Guarnaccia C, Dhir S, Pintar A, Pongor S. The tetralogy of Fallot-associated G274D mutation impairs folding of the second epidermal growth factor repeat in Jagged-1. FEBS J. 2009 Nov;276(21):6247-57. doi: 10.1111/j.1742-4658.2009.07333.x. Epub 2009 Sep 23. PubMed citation
Kamath BM, Bason L, Piccoli DA, Krantz ID, Spinner NB. Consequences of JAG1 mutations. J Med Genet. 2003 Dec;40(12):891-5. PubMed citation
Kim BJ, Fulton AB. The genetics and ocular findings of Alagille syndrome. Semin Ophthalmol. 2007 Oct-Dec;22(4):205-10. Review. PubMed citation
Lu F, Morrissette JJ, Spinner NB. Conditional JAG1 mutation shows the developing heart is more sensitive than developing liver to JAG1 dosage. Am J Hum Genet. 2003 Apr;72(4):1065-70. Epub 2003 Mar 14. PubMed citation
McElhinney DB, Krantz ID, Bason L, Piccoli DA, Emerick KM, Spinner NB, Goldmuntz E. Analysis of cardiovascular phenotype and genotype-phenotype correlation in individuals with a JAG1 mutation and/or Alagille syndrome. Circulation. 2002 Nov 12;106(20):2567-74. PubMed citation
Morrissette JD, Colliton RP, Spinner NB. Defective intracellular transport and processing of JAG1 missense mutations in Alagille syndrome. Hum Mol Genet. 2001 Feb 15;10(4):405-13. PubMed citation
OMIM: JAGGED 1
Piccoli DA, Spinner NB. Alagille syndrome and the Jagged1 gene. Semin Liver Dis. 2001 Nov;21(4):525-34. Review. PubMed citation
Spinner NB, Colliton RP, Crosnier C, Krantz ID, Hadchouel M, Meunier-Rotival M. Jagged1 mutations in alagille syndrome. Hum Mutat. 2001;17(1):18-33. Review. PubMed citation


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