JAG1 Gene

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Liu, D. JAG1 Gene. Encyclopedia. Available online: https://encyclopedia.pub/entry/4261 (accessed on 28 September 2026).

Liu D. JAG1 Gene. Encyclopedia. Available at: https://encyclopedia.pub/entry/4261. Accessed September 28, 2026.

Liu, Dean. "JAG1 Gene" Encyclopedia, https://encyclopedia.pub/entry/4261 (accessed September 28, 2026).

Liu, D. (2020, December 23). JAG1 Gene. In Encyclopedia. https://encyclopedia.pub/entry/4261

Liu, Dean. "JAG1 Gene." Encyclopedia. Web. 23 December, 2020.

JAG1 Gene

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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/gene/jag1

Jagged 1

genes

References

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 JAGGED1proteins in Alagille syndrome: inhibitory effect on Notch signaling. Hum MolGenet. 2007 Nov 15;16(22):2683-92.
Colliton RP, Bason L, Lu FM, Piccoli DA, Krantz ID, Spinner NB. Mutationanalysis of Jagged1 (JAG1) in Alagille syndrome patients. Hum Mutat. 2001Feb;17(2):151-2.
Dufraine J, Funahashi Y, Kitajewski J. Notch signaling regulates tumorangiogenesis by diverse mechanisms. Oncogene. 2008 Sep 1;27(38):5132-7. doi:10.1038/onc.2008.227. Review.
Guarnaccia C, Dhir S, Pintar A, Pongor S. The tetralogy of Fallot-associatedG274D mutation impairs folding of the second epidermal growth factor repeat inJagged-1. FEBS J. 2009 Nov;276(21):6247-57. doi:10.1111/j.1742-4658.2009.07333.x.
Kamath BM, Bason L, Piccoli DA, Krantz ID, Spinner NB. Consequences of JAG1mutations. J Med Genet. 2003 Dec;40(12):891-5.
Kim BJ, Fulton AB. The genetics and ocular findings of Alagille syndrome.Semin Ophthalmol. 2007 Oct-Dec;22(4):205-10. Review.
Lu F, Morrissette JJ, Spinner NB. Conditional JAG1 mutation shows thedeveloping heart is more sensitive than developing liver to JAG1 dosage. Am J HumGenet. 2003 Apr;72(4):1065-70.
McElhinney DB, Krantz ID, Bason L, Piccoli DA, Emerick KM, Spinner NB,Goldmuntz E. Analysis of cardiovascular phenotype and genotype-phenotypecorrelation in individuals with a JAG1 mutation and/or Alagille syndrome.Circulation. 2002 Nov 12;106(20):2567-74.
Morrissette JD, Colliton RP, Spinner NB. Defective intracellular transport andprocessing of JAG1 missense mutations in Alagille syndrome. Hum Mol Genet. 2001Feb 15;10(4):405-13.
Piccoli DA, Spinner NB. Alagille syndrome and the Jagged1 gene. Semin LiverDis. 2001 Nov;21(4):525-34. Review.
Spinner NB, Colliton RP, Crosnier C, Krantz ID, Hadchouel M, Meunier-RotivalM. Jagged1 mutations in alagille syndrome. Hum Mutat. 2001;17(1):18-33. Review.
Spinner NB, Gilbert MA, Loomes KM, Krantz ID. Alagille Syndrome. 2000 May 19[updated 2019 Dec 12]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): Universityof Washington, Seattle; 1993-2020. Available fromhttp://www.ncbi.nlm.nih.gov/books/NBK1273/

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Subjects: Genetics & Heredity

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Update Date: 23 Dec 2020

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