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Eurasian Journal of
Medicine and Oncology NOTCH3 in CSVD and breast cancer

marker mediating serum folate and vitamin B12 levels in CADASIL, a hereditary adult-onset condition causing
contributes to the risk of ischemic stroke. Biomed Res Int. stroke and dementia. Nature. 1996;383(6602):707-710.
2015;2015:167976.
doi: 10.1038/383707a0
doi: 10.1155/2015/167976
140. Tikka S, Baumann M, Siitonen M, et al. CADASIL and
131. Joutel A, Vahedi K, Corpechot C, et al. Strong clustering CARASIL. Brain Pathol. 2014;24(5):525-544.
and stereotyped nature of Notch3 mutations in CADASIL
patients. Lancet. 1997;350(9090):1511-1515. doi: 10.1111/bpa.12181
doi: 10.1016/S0140-6736(97)08083-5 141. Schoemaker D, Arboleda-Velasquez JF. Notch3 signalling
132. Soong BW, Liao YC, Tu PH, et al. A homozygous NOTCH3 and aggregation as targets for the treatment of CADASIL
mutation p.R544C and a heterozygous TREX1 variant and other NOTCH3-associated small-vessel diseases. Am J
p.C99MfsX3 in a family with hereditary small vessel disease Pathol. 2021;191(11):1856-1870.
of the brain. J Chin Med Assoc. 2013;76(6):319-324.
doi: 10.1016/j.ajpath.2021.03.015
doi: 10.1016/j.jcma.2013.03.002
142. Moreton F, Razvi S, Davidson R, Muir K. Changing clinical
133. Bekris LM, Yu CE, Bird TD, Tsuang DW. Genetics patterns and increasing prevalence in CADASIL. Acta
of Alzheimer disease. J Geriatr Psychiatry Neurol.
2010;23(4):213-227. Neurol Scand. 2014;130(3):197-203.
doi: 10.1177/0891988710383571 doi: 10.1111/ane.12266
134. Paulson HL, Igo I. Genetics of dementia. Semin Neurol. 143. Rutten JW, Hack RJ, Duering M, et al. Broad
2011;31(5):449-460. phenotype of cysteine-altering NOTCH3 variants in
UK Biobank: CADASIL to nonpenetrance. Neurology.
doi: 10.1055/s-0031-1299784
2020;95(18):e1835-e1843.
135. Ruchoux MM, Maurage CA. CADASIL: Cerebral
autosomal dominant arteriopathy with subcortical infarcts doi: 10.1212/WNL.0000000000010525
and leukoencephalopathy. J Neuropathol Exp Neurol. 144. Coupland K, Lendahl U, Karlström H. Role of NOTCH3
1997;56(9):947-964. mutations in the cerebral small vessel disease cerebral
136. Tournier-Lasserve E, Joutel A, Melki J, et al. Cerebral autosomal dominant arteriopathy with subcortical infarcts
autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. Stroke. 2018;49(11):2793-2800.
and leukoencephalopathy maps to chromosome 19q12. Nat
Genet. 1993;3(3):256-259. doi: 10.1161/STROKEAHA.118.021560
doi: 10.1038/ng0393-256 145. Hosseini-Alghaderi S, Baron M. Notch3 in development,
health and disease. Biomolecules. 2020;10(3):485.
137. Stojanov D, Vojinovic S, Aracki-Trenkic A, et al. Imaging
characteristics of cerebral autosomal dominant arteriopathy doi: 10.3390/biom10030485
with subcortical infarcts and leucoencephalopathy
(CADASIL). Bosn J Basic Med Sci. 2015;15(1):1-8. 146. Song C, Zhang J, Xu C, Gao M, Li N, Geng Q. The critical
role of γ-secretase and its inhibitors in cancer and cancer
doi: 10.17305/bjbms.2015.247
therapeutics. Int J Biol Sci. 2023;19(16):5089-5103.
138. O’Sullivan M, Jarosz JM, Martin RJ, Deasy N, Powell JF,
Markus HS. MRI hyperintensities of the temporal lobe and doi: 10.7150/ijbs.87334
external capsule in patients with CADASIL. Neurology. 147. Takebe N, Nguyen D, Yang SX. Targeting notch signaling
2001;56(5):628-634. pathway in cancer: Clinical development advances and
doi: 10.1212/wnl.56.5.628 challenges. Pharmacol Ther. 2014;141(2):140-149.
139. Joutel A, Corpechot C, Ducros A, et al. Notch3 mutations doi: 10.1016/j.pharmthera.2013.09.005

Volume 9 Issue 3 (2025) 51 doi: 10.36922/EJMO025150095