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Results: 1 to 20 of 333

Similar articles for PubMed (Select 17331978)

1.

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. Epub 2007 Mar 1.

2.

Distinct phenotypic and functional features of CADASIL mutations in the Notch3 ligand binding domain.

Monet-LeprĂȘtre M, Bardot B, Lemaire B, Domenga V, Godin O, Dichgans M, Tournier-Lasserve E, Cohen-Tannoudji M, Chabriat H, Joutel A.

Brain. 2009 Jun;132(Pt 6):1601-12. doi: 10.1093/brain/awp049. Epub 2009 Mar 17.

4.

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 1;299(2):454-64.

PMID:
15350543
5.

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.

6.

Abnormal recruitment of extracellular matrix proteins by excess Notch3 ECD: a new pathomechanism in CADASIL.

Monet-LeprĂȘtre M, Haddad I, Baron-Menguy C, Fouillot-Panchal M, Riani M, Domenga-Denier V, Dussaule C, Cognat E, Vinh J, Joutel A.

Brain. 2013 Jun;136(Pt 6):1830-45. doi: 10.1093/brain/awt092. Epub 2013 May 6.

7.

[Study of the familiar form of vascular dementia (CADASIL)].

Takahashi K, Yoshizaki K.

Nihon Shinkei Seishin Yakurigaku Zasshi. 2007 Jun;27(3):141-5. Review. Japanese.

PMID:
17633526
8.

Pathogenesis of CADASIL: transgenic and knock-out mice to probe function and dysfunction of the mutated gene, Notch3, in the cerebrovasculature.

Joutel A.

Bioessays. 2011 Jan;33(1):73-80. doi: 10.1002/bies.201000093. Epub 2010 Oct 21. Review.

PMID:
20967782
9.

CADASIL mutations enhance spontaneous multimerization of NOTCH3.

Opherk C, Duering M, Peters N, Karpinska A, Rosner S, Schneider E, Bader B, Giese A, Dichgans M.

Hum Mol Genet. 2009 Aug 1;18(15):2761-7. doi: 10.1093/hmg/ddp211. Epub 2009 May 5.

11.

Biochemical characterization and cellular effects of CADASIL mutants of NOTCH3.

Meng H, Zhang X, Yu G, Lee SJ, Chen YE, Prudovsky I, Wang MM.

PLoS One. 2012;7(9):e44964. doi: 10.1371/journal.pone.0044964. Epub 2012 Sep 18.

12.

[Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)].

Ueda M, Nakaguma R, Ando Y.

Rinsho Byori. 2009 Mar;57(3):242-51. Review. Japanese.

PMID:
19363995
13.

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy affecting an African American man: identification of a novel 15-base pair NOTCH3 duplication.

Lee SJ, Meng H, Elmadhoun O, Blaivas M, Wang MM.

Arch Neurol. 2011 Dec;68(12):1584-6. doi: 10.1001/archneurol.2011.781.

PMID:
22159056
14.

Archetypal Arg169Cys mutation in NOTCH3 does not drive the pathogenesis in cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy via a loss-of-function mechanism.

Cognat E, Baron-Menguy C, Domenga-Denier V, Cleophax S, Fouillade C, Monet-LeprĂȘtre M, Dewerchin M, Joutel A.

Stroke. 2014 Mar;45(3):842-9. doi: 10.1161/STROKEAHA.113.003339. Epub 2014 Jan 14. Erratum in: Stroke. 2014 Mar;45(3):e51.

15.

Activating NOTCH3 mutation in a patient with small-vessel-disease of the brain.

Fouillade C, Chabriat H, Riant F, Mine M, Arnoud M, Magy L, Bousser MG, Tournier-Lasserve E, Joutel A.

Hum Mutat. 2008 Mar;29(3):452. doi: 10.1002/humu.9527.

PMID:
18273901
16.

Two novel mutations of the NOTCH3 gene in Korean patients with CADASIL.

Kim Y, Kim JS, Kim G, No YJ, Yoo HW.

Mutat Res. 2006 Jan 29;593(1-2):116-20. Epub 2005 Oct 26.

PMID:
16256149
17.

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).

Lesnik Oberstein SA, Haan J.

Panminerva Med. 2004 Dec;46(4):265-76. Review.

PMID:
15876982
18.

Notch3: from subtle structural differences to functional diversity.

Bellavia D, Checquolo S, Campese AF, Felli MP, Gulino A, Screpanti I.

Oncogene. 2008 Sep 1;27(38):5092-8. doi: 10.1038/onc.2008.230. Review.

PMID:
18758477
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