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Items: 1 to 20 of 229

1.

Biological function of mutant forms of JAGGED1 proteins in Alagille syndrome: inhibitory effect on Notch signaling.

Boyer-Di Ponio J, Wright-Crosnier C, Groyer-Picard MT, Driancourt C, Beau I, Hadchouel M, Meunier-Rotival M.

Hum Mol Genet. 2007 Nov 15;16(22):2683-92. Epub 2007 Aug 24.

PMID:
17720887
2.

Functional analysis of the Notch ligand Jagged1 missense mutant proteins underlying Alagille syndrome.

Tada M, Itoh S, Ishii-Watabe A, Suzuki T, Kawasaki N.

FEBS J. 2012 Jun;279(12):2096-107. doi: 10.1111/j.1742-4658.2012.08595.x. Epub 2012 May 8.

3.

Expression of mutant JAGGED1 alleles in patients with Alagille syndrome.

Boyer J, Crosnier C, Driancourt C, Raynaud N, Gonzales M, Hadchouel M, Meunier-Rotival M.

Hum Genet. 2005 May;116(6):445-53. Epub 2005 Mar 17.

PMID:
15772854
4.

Defective intracellular transport and processing of JAG1 missense mutations in Alagille syndrome.

Morrissette JD, Colliton RP, Spinner NB.

Hum Mol Genet. 2001 Feb 15;10(4):405-13.

PMID:
11157803
5.

Jagged1 (JAG1) mutation detection in an Australian Alagille syndrome population.

Heritage ML, MacMillan JC, Colliton RP, Genin A, Spinner NB, Anderson GJ.

Hum Mutat. 2000 Nov;16(5):408-16.

PMID:
11058898
6.

Cranial neural crest ablation of Jagged1 recapitulates the craniofacial phenotype of Alagille syndrome patients.

Humphreys R, Zheng W, Prince LS, Qu X, Brown C, Loomes K, Huppert SS, Baldwin S, Goudy S.

Hum Mol Genet. 2012 Mar 15;21(6):1374-83. doi: 10.1093/hmg/ddr575. Epub 2011 Dec 8. Erratum in: Hum Mol Genet. 2012 Jun 15;21(12):2843.

7.

Human Jagged 1 mutants cause liver defect in Alagille syndrome by overexpression of hepatocyte growth factor.

Yuan ZR, Kobayashi N, Kohsaka T.

J Mol Biol. 2006 Feb 24;356(3):559-68. Epub 2005 Dec 20.

PMID:
16403414
8.

Jagged1-selective notch signaling induces smooth muscle differentiation via a RBP-Jkappa-dependent pathway.

Doi H, Iso T, Sato H, Yamazaki M, Matsui H, Tanaka T, Manabe I, Arai M, Nagai R, Kurabayashi M.

J Biol Chem. 2006 Sep 29;281(39):28555-64. Epub 2006 Jul 25.

9.

Soluble Jagged 1 represses the function of its transmembrane form to induce the formation of the Src-dependent chord-like phenotype.

Small D, Kovalenko D, Kacer D, Liaw L, Landriscina M, Di Serio C, Prudovsky I, Maciag T.

J Biol Chem. 2001 Aug 24;276(34):32022-30. Epub 2001 Jun 26.

10.

DHPLC mutation analysis of Jagged1 (JAG1) reveals six novel mutations in Australian alagille syndrome patients.

Heritage ML, MacMillan JC, Anderson GJ.

Hum Mutat. 2002 Dec;20(6):481.

PMID:
12442286
11.

Notch signaling in human development and disease.

Penton AL, Leonard LD, Spinner NB.

Semin Cell Dev Biol. 2012 Jun;23(4):450-7. doi: 10.1016/j.semcdb.2012.01.010. Epub 2012 Jan 28. Review.

12.

Alagille syndrome and the Jagged1 gene.

Piccoli DA, Spinner NB.

Semin Liver Dis. 2001 Nov;21(4):525-34. Review.

PMID:
11745040
13.

Identification of 36 novel Jagged1 (JAG1) mutations in patients with Alagille syndrome.

Röpke A, Kujat A, Gräber M, Giannakudis J, Hansmann I.

Hum Mutat. 2003 Jan;21(1):100.

PMID:
12497640
14.

Mutation analysis of Jagged1 (JAG1) in Alagille syndrome patients.

Colliton RP, Bason L, Lu FM, Piccoli DA, Krantz ID, Spinner NB.

Hum Mutat. 2001 Feb;17(2):151-2.

PMID:
11180599
15.

Functional role of Notch signaling in the developing and postnatal heart.

Nemir M, Pedrazzini T.

J Mol Cell Cardiol. 2008 Oct;45(4):495-504. doi: 10.1016/j.yjmcc.2008.02.273. Epub 2008 Mar 10. Review.

PMID:
18410944
16.

Jagged1 is the major regulator of Notch-dependent cell fate in proximal airways.

Zhang S, Loch AJ, Radtke F, Egan SE, Xu K.

Dev Dyn. 2013 Jun;242(6):678-86. doi: 10.1002/dvdy.23965. Epub 2013 Apr 29.

17.

Effects of Delta1 and Jagged1 on early human hematopoiesis: correlation with expression of notch signaling-related genes in CD34+ cells.

Neves H, Weerkamp F, Gomes AC, Naber BA, Gameiro P, Becker JD, Lúcio P, Clode N, van Dongen JJ, Staal FJ, Parreira L.

Stem Cells. 2006 May;24(5):1328-37. Epub 2006 Jan 12.

18.

Jagged1 mutations in alagille syndrome.

Spinner NB, Colliton RP, Crosnier C, Krantz ID, Hadchouel M, Meunier-Rotival M.

Hum Mutat. 2001;17(1):18-33. Review.

PMID:
11139239
19.

Control of Notch-ligand endocytosis by ligand-receptor interaction.

Hansson EM, Lanner F, Das D, Mutvei A, Marklund U, Ericson J, Farnebo F, Stumm G, Stenmark H, Andersson ER, Lendahl U.

J Cell Sci. 2010 Sep 1;123(Pt 17):2931-42. doi: 10.1242/jcs.073239.

20.

Spectrum and frequency of jagged1 (JAG1) mutations in Alagille syndrome patients and their families.

Krantz ID, Colliton RP, Genin A, Rand EB, Li L, Piccoli DA, Spinner NB.

Am J Hum Genet. 1998 Jun;62(6):1361-9.

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