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Items: 13

1.

Alagille syndrome: Genetics and Functional Models.

Gilbert MA, Spinner NB.

Curr Pathobiol Rep. 2017 Sep;5(3):233-241. doi: 10.1007/s40139-017-0144-8.

2.

Notch Signaling and the Skeleton.

Zanotti S, Canalis E.

Endocr Rev. 2016 Jun;37(3):223-53. doi: 10.1210/er.2016-1002. Epub 2016 Apr 13. Review.

3.

Context-Dependent Sensitivity to Mutations Disrupting the Structural Integrity of Individual EGF Repeats in the Mouse Notch Ligand DLL1.

Schuster-Gossler K, Cordes R, Müller J, Geffers I, Delany-Heiken P, Taft M, Preller M, Gossler A.

Genetics. 2016 Mar;202(3):1119-33. doi: 10.1534/genetics.115.184515. Epub 2016 Jan 22.

4.

Jagged1 (JAG1): Structure, expression, and disease associations.

Grochowski CM, Loomes KM, Spinner NB.

Gene. 2016 Jan 15;576(1 Pt 3):381-4. doi: 10.1016/j.gene.2015.10.065. Epub 2015 Nov 6. Review.

5.

Alagille, Notch, and robustness: why duplicating systems does not ensure redundancy.

Kopan R, Chen S, Liu Z.

Pediatr Nephrol. 2014 Apr;29(4):651-7. doi: 10.1007/s00467-013-2661-y. Epub 2013 Nov 24. Review.

6.

Notch signaling in skeletal health and disease.

Zanotti S, Canalis E.

Eur J Endocrinol. 2013 May 8;168(6):R95-103. doi: 10.1530/EJE-13-0115. Print 2013 Jun. Review.

7.

Molecular pathways of notch signaling in vascular smooth muscle cells.

Boucher J, Gridley T, Liaw L.

Front Physiol. 2012 Apr 9;3:81. doi: 10.3389/fphys.2012.00081. eCollection 2012.

8.

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.

9.

NOTCH2 mutations in Alagille syndrome.

Kamath BM, Bauer RC, Loomes KM, Chao G, Gerfen J, Hutchinson A, Hardikar W, Hirschfield G, Jara P, Krantz ID, Lapunzina P, Leonard L, Ling S, Ng VL, Hoang PL, Piccoli DA, Spinner NB.

J Med Genet. 2012 Feb;49(2):138-44. doi: 10.1136/jmedgenet-2011-100544. Epub 2011 Dec 29.

10.

Canonical and non-canonical Notch ligands.

D'Souza B, Meloty-Kapella L, Weinmaster G.

Curr Top Dev Biol. 2010;92:73-129. doi: 10.1016/S0070-2153(10)92003-6. Review.

11.

Jagged1 (JAG1) mutations in patients with tetralogy of Fallot or pulmonic stenosis.

Bauer RC, Laney AO, Smith R, Gerfen J, Morrissette JJ, Woyciechowski S, Garbarini J, Loomes KM, Krantz ID, Urban Z, Gelb BD, Goldmuntz E, Spinner NB.

Hum Mutat. 2010 May;31(5):594-601. doi: 10.1002/humu.21231.

12.

Functional analysis of a recurrent missense mutation in Notch3 in CADASIL.

Haritunians T, Chow T, De Lange RP, Nichols JT, Ghavimi D, Dorrani N, St Clair DM, Weinmaster G, Schanen C.

J Neurol Neurosurg Psychiatry. 2005 Sep;76(9):1242-8.

13.

Conditional JAG1 mutation shows the developing heart is more sensitive than developing liver to JAG1 dosage.

Lu F, Morrissette JJ, Spinner NB.

Am J Hum Genet. 2003 Apr;72(4):1065-70. Epub 2003 Mar 14.

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