Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia

Keywords

CADASIL, Leukoencephalopathy, Dementia, Cerebral amyloid angiopathy, Vascular dementia

References

• Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, genetic homogeneity, and mapping of the locus within a 2-cM interval.Anne Ducros, Tamás Nagy, Sonia Alamowitch — 1996
• Epidermal growth factor-like modulesIain D. Campbell, Peer Bork — 1993
• Nucleotide sequence from the neurogenic locus notch implies a gene product that shares homology with proteins containing EGF-like repeats.Kristi A. Wharton, Kristen M. Johansen, Tian Xu — 1985
• Facilitation of lin-12-mediated signalling by sel-12, a Caenorhabditis elegans S182 Alzheimer's disease geneDiane Levitan, Iva Greenwald — 1995
• Jagged: a mammalian ligand that activates Notch1.C.E. Lindsell, Carrie J. Shawber, Jim Boulter — 1995
• Specific EGF repeats of Notch mediate interactions with Delta and Serrate: implications for Notch as a multifunctional receptor.Ilaria Rebay, R.J. Fleming, Richard G. Fehon — 1991
• Specific truncations of Drosophila Notch define dominant activated and dominant negative forms of the receptor.Ilaria Rebay, Richard G. Fehon, Spyros Artavanis‐Tsakonas — 1993
• TAN-1, the human homolog of the Drosophila notch gene, is broken by chromosomal translocations in T lymphoblastic neoplasms.Leif W. Ellisen, Jeffrey Bird, Daniel C. West — 1991
• Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy maps to chromosome 19q12Elisabeth Tournier‐Lasserve, Anne Joutel, Judith Melki — 1993
• Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's diseaseRobin Sherrington, Е. И. Рогаев, Yuh‐Jin Liang — 1995
• cDNA selection: efficient PCR approach for the selection of cDNAs encoded in large chromosomal DNA fragments.Satish Parimoo, S R Patanjali, Harish Shukla — 1991
• The human NOTCH1, 2, and 3 genes are located at chromosome positions 9q34, 1p13-p11, and 19p13.2-p13.1 in regions of neoplasia-associated translocation.Catharina Larsson, Michael Lardelli, I. White — 1994
• The novel Notch homologue mouse Notch 3 lacks specific epidermal growth factor-repeats and is expressed in proliferating neuroepithelium.Michael Lardelli, Jonas Dahlstrand, Urban Lendahl — 1994
• The I.M.A.G.E. Consortium: an integrated molecular analysis of genomes and their expression.Greg Lennon, Charles Auffray, Mihael H. Polymeropoulos — 1996
• An integrated metric physical map of human chromosome 19Linda K. Ashworth, Mark A. Batzer, Brigitte Brandriff — 1995
• The suppressor of hairless protein participates in notch receptor signaling.Monica Fortini — 1994
• Mapping the whole human genome by fingerprinting yeast artificial chromosomes.Christine Bellanné‐Chantelot, Bruno Lacroix, Pierre Ougen — 1992
• A transcription map of the region containing the Huntington disease gene.Johanna M. Rommens, B. Lin, Gordon B. Hutchinson — 1993
• Mutations altering the structure of epidermal growth factor-like coding sequences at the Drosophila Notch locus.Mark R. Kelley, Simon Kidd, Walter Deutsch — 1987
• Autosomal Dominant Syndrome With Strokelike Episodes and LeukoencephalopathyElisabeth Tournier‐Lasserve, M T Iba-Zizen, Nicolás Romero — 1991

Cited by

• Notch Signaling in Ocular Vasculature Development and DiseasesGuo‐Rui Dou, Lin Wang, Yusheng Wang — 2012
• Capillary vessel wall in CADASIL angiopathy.Eliza Lewandowska, G M Szpak, Teresa Wierzba‐Bobrowicz — 2010
• Endothelial changes in muscle and skin biopsies in patients with CADASILJoachim Klementa — 1998
• NOTCH4 gene polymorphism and susceptibility to schizophrenia and schizoaffective disorder.Brenna Quigley, Roberta Uhland — 2001
• Binswanger's disease is not a single entityAyako Noguchi, F. Moscardi, C. B. Hoffmann-Campo — 2000
• Evaluation of diagnostic NOTCH3 immunostaining in CADASILLu Zhengguo, Zhou Jianying — 2003
• Genes for strokeCarroll D. Littlefield, John E. Cornely, Bradley D. Ehlers — 2004
• Blood pressure and haemoglobin A1c are associated with microhaemorrhage in CADASIL: a two-centre cohort study.真知子 赤尾, 宏可 本庄, 啓二 佐藤 — 2006
• Varicose veins associated with CADASIL result from a novel mutation in the Notch3 geneShinji Saiki, Kazuhisa Sakai, Misuzu Saiki — 2006
• The neurological illness of Friedrich Nietzsche.Dimitri Hemelsoet, K Hemelsoet, D Devreese — 2008
• Linking Notch signaling to ischemic strokeKamarulzaman Mohd Izzat — 2008
• Ischaemic Stroke Subtypes and Their Genetic Basis: A Comprehensive Meta-Analysis of Small and Large Vessel StrokeRafael Serrano García — 2008
• Genetic variants in the NOTCH4 gene influence the clinical features of migraineJulio Ignacio Iglesias Redondo — 2013
• Pericytes in the eyePilar Rubio, E.M Farrell — 2013
• SPECT myocardial perfusion in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy.José António Frias Montoya — 2013
• Genetics and genomics for the prevention and treatment of cardiovascular disease: update: a scientific statement from the American Heart Association.Vern Fotheringham, Chetan Sharma — 2013
• Headache in Autoimmune DiseasesA. J. Darnell — 2014
• Notch signaling functions in retinal pericyte survival.Alberto Ruiz de la Serna — 2014
• Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia Caused by a Novel R782G Mutation in CSF1R正博 仲野, 裕己 宇野, 高広 後藤 — 2015
• Targeting Notch3 in Hepatocellular Carcinoma: Molecular Mechanisms and Therapeutic PerspectivesGert Melville — 2016

Related papers

• Diagnosis and therapy of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) from the standpoint of modern recommendationsV. N. Grigoryeva, Anna N. Belova, V. N. Grigoryeva — 2022
• [Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)].Yun-Chung Chen, Cheng-Tsung Hsiao, Bing‐Wen Soong — 2014
• [Imaging findings in autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) - CADASIL - the most frequent familial stroke syndrome].Benjamin Bender, A. Bornemann, Matthias Reimold — 2012
• The pattern of cognitive performance in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)N. Peters, Christian Opherk, Adrian Danek — 2004
• [Dominant autosomal cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). A review].Elisa Navarro, Francisco Galeano Díaz, L Muñoz — 2002
• Genetic analysis of adult leukoencephalopathy patients using a custom‐designed gene panelMisako Kunii, Hiroshi Doi, Yasuaki Ishii — 2018
• Systemic vascular smooth muscle cell impairment in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathyM M Ruchoux, Djelloul Guerouaou, B Vandenhaute — 2004