Gene involved in CADASIL, method of diagnosis and...

Organic compounds -- part of the class 532-570 series – Organic compounds – Carbohydrates or derivatives

Reexamination Certificate

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C536S024300, C536S023100, C436S504000, C436S501000, C435S006120

Reexamination Certificate

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06995257

ABSTRACT:
The invention concerns the Notch3 gene and the corresponding protein, which are involved in CADASIL. The invention concerns, in particular, methods for demonstrating mutations in this gene, which are linked to the risk of developing CADASIL. The invention also concerns models and products for treating CADASIL and related diseases.

REFERENCES:
patent: 2116628 (1994-02-01), None
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del Amo et al., 1992, Development, 115, pp. 737-744.
C. Larsson et al., “The Human NOTCH1, 2, and 3 Genes Are Located at Chromosome Positions 9q34, 1p13-p11, and 19p.13.2-p13.1 in Regions of Neoplasia-Associated Translocation,”Genomics,24(2):253-258 (1994).
Lardelli et al., “The Novel Notch Homologue Mouse Notch 3 Lacks Specific Epidermal Growth Factor-Repeats and is Expressed in Proliferating Neuroepithelium”,Mech of Develop.,46:123-136 (1994).
Lindsell et al., “Expression Patterns of Jagged, Delta1, Notch1, Notch2, and Notch3 Genes Identify Ligand-Receptor Pairs that may Function in Neural Development”,Mol. and Cell. Neuroscience,8:14-27 (1996).
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Joutel et al., “Notch3 Mutations in CADASIL, a Hereditary Adult-Onset Condition Causing Stroke and Dementia”,Nature,383:707-710 (1996).
Lardelli et al., “Expression of the Notch 3 Intracellular Domain in Mouse Central Nervous System Progenitor Cells is Lethal and Leads to Disturbed Neural Tube Development”,Mech. of Develop.,59:177-190 (1996).
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Joutel et al., “Identification of Expressed Sequences From the CADASIL Region on 19p13”,Amer. J. of Human Genet.,vol. 57, No. 3, pp. A342, Abstract 1985 (1995).
Joutel et al., “Identification of the CADASIL Gene”,Stroke,vol. 28, No. 1, p. 246, Abstract 65 (1997).
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