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344 related items for PubMed ID: 14714274
1. Pathogenic mutations associated with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy differently affect Jagged1 binding and Notch3 activity via the RBP/JK signaling Pathway. Joutel A, Monet M, Domenga V, Riant F, Tournier-Lasserve E. Am J Hum Genet; 2004 Feb; 74(2):338-47. PubMed ID: 14714274 [Abstract] [Full Text] [Related]
2. CADASIL-associated Notch3 mutations have differential effects both on ligand binding and ligand-induced Notch3 receptor signaling through RBP-Jk. Peters N, Opherk C, Zacherle S, Capell A, Gempel P, Dichgans M. Exp Cell Res; 2004 Oct 01; 299(2):454-64. PubMed ID: 15350543 [Abstract] [Full Text] [Related]
3. Distinct phenotypic and functional features of CADASIL mutations in the Notch3 ligand binding domain. Monet-Leprêtre M, Bardot B, Lemaire B, Domenga V, Godin O, Dichgans M, Tournier-Lasserve E, Cohen-Tannoudji M, Chabriat H, Joutel A. Brain; 2009 Jun 01; 132(Pt 6):1601-12. PubMed ID: 19293235 [Abstract] [Full Text] [Related]
7. CADASIL: a common form of hereditary arteriopathy causing brain infarcts and dementia. Kalimo H, Ruchoux MM, Viitanen M, Kalaria RN. Brain Pathol; 2002 Jul 01; 12(3):371-84. PubMed ID: 12146805 [Abstract] [Full Text] [Related]
9. The archetypal R90C CADASIL-NOTCH3 mutation retains NOTCH3 function in vivo. Monet M, Domenga V, Lemaire B, Souilhol C, Langa F, Babinet C, Gridley T, Tournier-Lasserve E, Cohen-Tannoudji M, Joutel A. Hum Mol Genet; 2007 Apr 15; 16(8):982-92. PubMed ID: 17331978 [Abstract] [Full Text] [Related]
10. CADASIL Notch3 mutant proteins localize to the cell surface and bind ligand. Haritunians T, Boulter J, Hicks C, Buhrman J, DiSibio G, Shawber C, Weinmaster G, Nofziger D, Schanen C. Circ Res; 2002 Mar 22; 90(5):506-8. PubMed ID: 11909813 [Abstract] [Full Text] [Related]
11. [From gene to disease; from Notch3 to cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy]. Oberstein SA, Bakker E, Ferrari MD, Haan J. Ned Tijdschr Geneeskd; 2001 Feb 24; 145(8):359-60. PubMed ID: 11257815 [Abstract] [Full Text] [Related]
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 24; 76(9):1242-8. PubMed ID: 16107360 [Abstract] [Full Text] [Related]
13. [NOTCH3 gene mutations in four Chinese families with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy]. Wang ZX, Lu H, Zhang Y, Bu DF, Niu XY, Zhang Z, Huang YN, Yuan Y. Zhonghua Yi Xue Za Zhi; 2004 Jul 17; 84(14):1175-80. PubMed ID: 15387979 [Abstract] [Full Text] [Related]
16. CADASIL mutations impair Notch3 glycosylation by Fringe. Arboleda-Velasquez JF, Rampal R, Fung E, Darland DC, Liu M, Martinez MC, Donahue CP, Navarro-Gonzalez MF, Libby P, D'Amore PA, Aikawa M, Haltiwanger RS, Kosik KS. Hum Mol Genet; 2005 Jun 15; 14(12):1631-9. PubMed ID: 15857853 [Abstract] [Full Text] [Related]
17. Distribution pattern of Notch3 mutations suggests a gain-of-function mechanism for CADASIL. Donahue CP, Kosik KS. Genomics; 2004 Jan 15; 83(1):59-65. PubMed ID: 14667809 [Abstract] [Full Text] [Related]
18. The ectodomain of the Notch3 receptor accumulates within the cerebrovasculature of CADASIL patients. Joutel A, Andreux F, Gaulis S, Domenga V, Cecillon M, Battail N, Piga N, Chapon F, Godfrain C, Tournier-Lasserve E. J Clin Invest; 2000 Mar 15; 105(5):597-605. PubMed ID: 10712431 [Abstract] [Full Text] [Related]
19. Genetic, clinical and pathological studies of CADASIL in Japan: a partial contribution of Notch3 mutations and implications of smooth muscle cell degeneration for the pathogenesis. Santa Y, Uyama E, Chui DH, Arima M, Kotorii S, Takahashi K, Tabira T. J Neurol Sci; 2003 Aug 15; 212(1-2):79-84. PubMed ID: 12810003 [Abstract] [Full Text] [Related]
20. Small in-frame deletions and missense mutations in CADASIL: 3D models predict misfolding of Notch3 EGF-like repeat domains. Dichgans M, Ludwig H, Müller-Höcker J, Messerschmidt A, Gasser T. Eur J Hum Genet; 2000 Apr 15; 8(4):280-5. PubMed ID: 10854111 [Abstract] [Full Text] [Related] Page: [Next] [New Search]