Skip Navigation

This Article
Right arrow Full Text Freely available
Right arrow FREE Full Text (PDF) Freely available
Right arrow Alert me when this article is cited
Right arrow Alert me if a correction is posted
Services
Right arrow Email this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Add to My Personal Archive
Right arrow Download to citation manager
Right arrowRequest Permissions
Google Scholar
Right arrow Articles by Gridley, T.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Gridley, T.
Social Bookmarking
Add to CiteULike   Add to Connotea   Add to Del.icio.us  
What's this?

Human Molecular Genetics, 2003, Vol. 12, Review Issue 1 R9-R13
DOI: 10.1093/hmg/ddg052
© 2003 Oxford University Press

Notch signaling and inherited disease syndromes

Thomas Gridley*

The Jackson Laboratory, 600 Main St, Bar Harbor, ME 04609, USA

Received December 2, 2002; Accepted January 2, 2003

The Notch signaling pathway is an evolutionarily conserved, intercellular signaling mechanism essential for proper embryonic development in organisms as diverse as insects, nematodes, echinoderms and mammals. Disruptions in conserved developmental pathways frequently result in inherited congenital anomalies in humans. Mutations in genes encoding Notch pathway components underlie three inherited human diseases: Alagille syndrome, spondylocostal dysostosis, and cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. Mouse models for these three diseases have been developed, and are leading to novel insights into the pathology of these diseases in humans.

* To whom correspondence should be addressed. Tel: +1 2072886237; Fax: +1 2072886077; Email: gridley{at}jax.org


Add to CiteULike CiteULike   Add to Connotea Connotea   Add to Del.icio.us Del.icio.us    What's this?


This article has been cited by other articles:


Home page
 Mol. Cell. Biol.Home page
S. Zanotti and E. Canalis
Notch and the Skeleton
Mol. Cell. Biol., February 15, 2010; 30(4): 886 - 896.
[Abstract] [Full Text] [PDF]

Home page
 Proc. Natl. Acad. Sci. USAHome page
T. J. Mead and K. E. Yutzey
Notch pathway regulation of chondrocyte differentiation and proliferation during appendicular and axial skeleton development
PNAS, August 25, 2009; 106(34): 14420 - 14425.
[Abstract] [Full Text] [PDF]

Home page
 Hum Mol GenetHome page
F. Engin, T. Bertin, O. Ma, M. M. Jiang, L. Wang, R. E. Sutton, L. A. Donehower, and B. Lee
Notch signaling contributes to the pathogenesis of human osteosarcomas
Hum. Mol. Genet., April 15, 2009; 18(8): 1464 - 1470.
[Abstract] [Full Text] [PDF]

Home page
 Circ. Res.Home page
M. R. Swift and B. M. Weinstein
Arterial-Venous Specification During Development
Circ. Res., March 13, 2009; 104(5): 576 - 588.
[Abstract] [Full Text] [PDF]

Home page
 JCBHome page
C. Collesi, L. Zentilin, G. Sinagra, and M. Giacca
Notch1 signaling stimulates proliferation of immature cardiomyocytes
J. Cell Biol., September 29, 2008; (2008) jcb.200806091.
[Abstract] [Full Text] [PDF]

Home page
 Circ. Res.Home page
S. Jin, E. M. Hansson, S. Tikka, F. Lanner, C. Sahlgren, F. Farnebo, M. Baumann, H. Kalimo, and U. Lendahl
Notch Signaling Regulates Platelet-Derived Growth Factor Receptor-{beta} Expression in Vascular Smooth Muscle Cells
Circ. Res., June 20, 2008; 102(12): 1483 - 1491.
[Abstract] [Full Text] [PDF]

Home page
 J. Biol. Chem.Home page
D. R. Friedmann, J. J. Wilson, and R. A. Kovall
RAM-induced Allostery Facilitates Assembly of a Notch Pathway Active Transcription Complex
J. Biol. Chem., May 23, 2008; 283(21): 14781 - 14791.
[Abstract] [Full Text] [PDF]

Home page
 J. Biol. Chem.Home page
J. Cordle, C. RedfieldZ, M. Stacey, P. A. van der Merwe, A. C. Willis, B. R. Champion, S. Hambleton, and P. A. Handford
Localization of the Delta-like-1-binding Site in Human Notch-1 and Its Modulation by Calcium Affinity
J. Biol. Chem., April 25, 2008; 283(17): 11785 - 11793.
[Abstract] [Full Text] [PDF]

Home page
 J EndocrinolHome page
U.-M. Fiuza and A. M. Arias
Cell and molecular biology of Notch
J. Endocrinol., September 1, 2007; 194(3): 459 - 474.
[Abstract] [Full Text] [PDF]

Home page
 Proc. Natl. Acad. Sci. USAHome page
A. Khandelwal, D. Chandu, C. M. Roe, R. Kopan, and R. S. Quatrano
Moonlighting activity of presenilin in plants is independent of {gamma}-secretase and evolutionarily conserved
PNAS, August 14, 2007; 104(33): 13337 - 13342.
[Abstract] [Full Text] [PDF]

Home page
 Am. J. Pathol.Home page
L. Fabris, M. Cadamuro, M. Guido, C. Spirli, R. Fiorotto, M. Colledan, G. Torre, D. Alberti, A. Sonzogni, L. Okolicsanyi, et al.
Analysis of Liver Repair Mechanisms in Alagille Syndrome and Biliary Atresia Reveals a Role for Notch Signaling
Am. J. Pathol., August 1, 2007; 171(2): 641 - 653.
[Abstract] [Full Text] [PDF]

Home page
 DevelopmentHome page
T. Gridley
Notch signaling in vascular development and physiology
Development, August 1, 2007; 134(15): 2709 - 2718.
[Abstract] [Full Text] [PDF]

Home page
 BrainHome page
W. C. Low, M. Junna, A. Borjesson-Hanson, C. M. Morris, T. H. Moss, D. L. Stevens, D. St Clair, T. Mizuno, W. W. Zhang, K. Mykkanen, et al.
Hereditary multi-infarct dementia of the Swedish type is a novel disorder different from NOTCH3 causing CADASIL
Brain, February 1, 2007; 130(2): 357 - 367.
[Abstract] [Full Text] [PDF]

Home page
 DevelopmentHome page
M. Vooijs, C.-T. Ong, B. Hadland, S. Huppert, Z. Liu, J. Korving, M. van den Born, T. Stappenbeck, Y. Wu, H. Clevers, et al.
Mapping the consequence of Notch1 proteolysis in vivo with NIP-CRE
Development, February 1, 2007; 134(3): 535 - 544.
[Abstract] [Full Text] [PDF]

Home page
 ScienceHome page
M. Ehebauer, P. Hayward, and A. M. Arias
Notch, a Universal Arbiter of Cell Fate Decisions
Science, December 1, 2006; 314(5804): 1414 - 1415.
[Abstract] [Full Text] [PDF]

Home page
 GeneticsHome page
A. L. Parks, J. R. Stout, S. B. Shepard, K. M. Klueg, A. A. Dos Santos, T. R. Parody, M. Vaskova, and M. A. T. Muskavitch
Structure-Function Analysis of Delta Trafficking, Receptor Binding and Signaling in Drosophila
Genetics, December 1, 2006; 174(4): 1947 - 1961.
[Abstract] [Full Text] [PDF]

Home page
 Mol. Cell. Biol.Home page
C. Souilhol, S. Cormier, K. Tanigaki, C. Babinet, and M. Cohen-Tannoudji
RBP-J{kappa}-Dependent Notch Signaling Is Dispensable for Mouse Early Embryonic Development
Mol. Cell. Biol., July 1, 2006; 26(13): 4769 - 4774.
[Abstract] [Full Text] [PDF]

Home page
 Circ. Res.Home page
M. Nemir, A. Croquelois, T. Pedrazzini, and F. Radtke
Induction of Cardiogenesis in Embryonic Stem Cells via Downregulation of Notch1 Signaling
Circ. Res., June 23, 2006; 98(12): 1471 - 1478.
[Abstract] [Full Text] [PDF]

Home page
 GeneticsHome page
M. B. Mahoney, A. L. Parks, D. A. Ruddy, S. Y. K. Tiong, H. Esengil, A. C. Phan, P. Philandrinos, C. G. Winter, R. Chatterjee, K. Huppert, et al.
Presenilin-Based Genetic Screens in Drosophila melanogaster Identify Novel Notch Pathway Modifiers
Genetics, April 1, 2006; 172(4): 2309 - 2324.
[Abstract] [Full Text] [PDF]

Home page
 J. Biol. Chem.Home page
C.-T. Ong, H.-T. Cheng, L.-W. Chang, T. Ohtsuka, R. Kageyama, G. D. Stormo, and R. Kopan
Target Selectivity of Vertebrate Notch Proteins: COLLABORATION BETWEEN DISCRETE DOMAINS AND CSL-BINDING SITE ARCHITECTURE DETERMINES ACTIVATION PROBABILITY
J. Biol. Chem., February 24, 2006; 281(8): 5106 - 5119.
[Abstract] [Full Text] [PDF]

Home page
 Cancer Res.Home page
S. Stylianou, R. B. Clarke, and K. Brennan
Aberrant Activation of Notch Signaling in Human Breast Cancer
Cancer Res., February 1, 2006; 66(3): 1517 - 1525.
[Abstract] [Full Text] [PDF]

Home page
 DevelopmentHome page
A. E. Kiernan, R. Cordes, R. Kopan, A. Gossler, and T. Gridley
The Notch ligands DLL1 and JAG2 act synergistically to regulate hair cell development in the mammalian inner ear
Development, October 1, 2005; 132(19): 4353 - 4362.
[Abstract] [Full Text] [PDF]

Home page
 J. Biol. Chem.Home page
M. Vooijs, E. H. Schroeter, Y. Pan, M. Blandford, and R. Kopan
Ectodomain Shedding and Intramembrane Cleavage of Mammalian Notch Proteins Are Not Regulated through Oligomerization
J. Biol. Chem., December 3, 2004; 279(49): 50864 - 50873.
[Abstract] [Full Text] [PDF]

Home page
 Genes Dev.Home page
L. T. Krebs, J. R. Shutter, K. Tanigaki, T. Honjo, K. L. Stark, and T. Gridley
Haploinsufficient lethality and formation of arteriovenous malformations in Notch pathway mutants
Genes & Dev., October 15, 2004; 18(20): 2469 - 2473.
[Abstract] [Full Text] [PDF]

Home page
 Genes Dev.Home page
L. T. Krebs, N. Iwai, S. Nonaka, I. C. Welsh, Y. Lan, R. Jiang, Y. Saijoh, T. P. O'Brien, H. Hamada, and T. Gridley
Notch signaling regulates left-right asymmetry determination by inducing Nodal expression
Genes & Dev., May 15, 2003; 17(10): 1207 - 1212.
[Abstract] [Full Text] [PDF]


Disclaimer: Please note that abstracts for content published before 1996 were created through digital scanning and may therefore not exactly replicate the text of the original print issues. All efforts have been made to ensure accuracy, but the Publisher will not be held responsible for any remaining inaccuracies. If you require any further clarification, please contact our Customer Services Department.