Strong clustering and stereotyped nature of Notch3 mutations in CADASIL patients
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Stevens, 1977, Chronic familial vascular encephalopathy, Lancet, ii, 1364, 10.1016/S0140-6736(77)92576-4
Davous, 1991, Démence sous corticale familiale avec leucoencéphalopathie artériopathique: observation clinicopathologique., Rev Neurol (Paris), 5, 376
Tournier-Lasserve, 1991, Autosomal dominant syndrome with stroke-like episodes and leukoencephalopathy, Stroke, 22, 1297, 10.1161/01.STR.22.10.1297
Tournier-Lasserve, 1993, Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) maps on chromosome 19ql2, Nature Genet, 3, 256, 10.1038/ng0393-256
Baudrimont, 1993, Autosomal dominant leukoencephalopathy and subcortical ischaemic stroke: a clinicopathological study, Stroke, 24, 122, 10.1161/01.STR.24.1.122
Ruchoux, 1995, Systematic vascular smooth muscle cell impairment in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, Acta Neuropathol, 89, 500, 10.1007/BF00571504
Ducros, 1996, Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, genetic homogeneity and mapping of the locus within a 2-cM interval, Am J Hum Genet, 58, 171
Chabriat, 1995, Clinical spectrum of CADASIL: a study of 7 families, Lancet, 346, 934, 10.1016/S0140-6736(95)91557-5
Joutel, 1996, Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia, Nature, 383, 707, 10.1038/383707a0
Rebay, 1993, Specific truncations of Drosophila Notch define dominant activated and dominant negative forms of the receptor, Cell, 74, 319, 10.1016/0092-8674(93)90423-N
Rebay, 1991, Specific EGF repeats of Notch mediate interactions with Delta and Serrate: implications for Notch as a multifunctional receptor, Cell, 67, 687, 10.1016/0092-8674(91)90064-6
Langston, 1996, BRCA1 mutations in a population-based sample of young women with breast cancer, N Engl J Med, 334, 137, 10.1056/NEJM199601183340301
Campbell, 1993, Epidermal growth factor-like modules, Curr Opin Struct Biol, 3, 385, 10.1016/S0959-440X(05)80111-3
Kopczynski, 1988, DELTA, a Drosophila neurogenic gene, is transcription ally complex and encodes a protein related to blood coagulation factors and epidermal growth factor of vertebrates, Genes Devlop, 2, 1723, 10.1101/gad.2.12b.1723
Fleming, 1990, The gene Serrate encodes a putative EGF-like transmembrane protein essential for proper ectodermal development in, Drosophila melanogaster. Genes Develop, 4, 2188, 10.1101/gad.4.12a.2188
Sorokin, 1994, Stabilization of an active dimeric form of the epidermal growth factor receptor by introduction of an inter-receptor disulfide bond, J Biol Chem, 269, 9752, 10.1016/S0021-9258(17)36947-8
Neilson, 1995, Constitutive activation of fibroblast growth factor receptor-2 by a point mutation associated with Crouzon syndrome, J Biol Chem, 270, 26037, 10.1074/jbc.270.44.26037
Santoro, 1995, Activation of RET as a dominant transforming gene by germline mutations of MEN2A and MEN2B, Science, 267, 381, 10.1126/science.7824936
Kelley, 1987, Mutations altering the structure of epidermal growth factor-like coding sequences at the drosophila Notch locus, Cell, 51, 539, 10.1016/0092-8674(87)90123-1