Afshar, H. et al. Natural selection at the NHLH2 core promoter exceptionally long CA-repeat in human and disease-only genotypes in late-onset neurocognitive disorder. Gerontology 66(5), 514–522. doi.org/10.1159/000509471 (2020) (Epub 2020 Sep 2).
Sulovari, A. et al. Human-specific tandem repeat expansion and differential gene expression during primate evolution. Proc. Natl. Acad. Sci. U. S. A. 116(46), 23243–23253. doi.org/10.1073/pnas.1912175116 (2019) (Epub 2019 Oct 28).
Flynn, J. M., Caldas, I., Cristescu, M. E. & Clark, A. G. Selection constrains high rates of tandem repetitive DNA mutation in Daphnia pulex. Genetics 207(2), 697–710 (2017).
Watts, P. C. et al. Stabilizing selection on microsatellite allele length at arginine vasopressin 1a receptor and oxytocin receptor loci. Proc. R. Soc. B Biol. Sci. 284(1869), 20171896 (2017).
Hannan, A. J. Tandem repeats mediating genetic plasticity in health and disease. Nat. Rev. Genet. 19(5), 286–298. doi.org/10.1038/nrg.2017.115 (2018) (Epub 2018 Feb 5).
Khademi, E. et al. Support for “Disease-Only” genotypes and excess of homozygosity at the CYTH4 primate-specific GTTT-repeat in Schizophrenia. Genet. Test Mol. Biomark. 21(8), 485–490. doi.org/10.1089/gtmb.2016.0422 (2017) (Epub 2017 Jul 19).
Bushehri, A., Barez, M. R., Mansouri, S. K., Biglarian, A. & Ohadi, M. Genome-wide identification of human- and primate-specific core promoter short tandem repeats. Gene 587(1), 83–90. doi.org/10.1016/j.gene.2016.04.041 (2016) (Epub 2016 Apr 22).
Mohammadparast, S., Bayat, H., Biglarian, A. & Ohadi, M. Exceptional expansion and conservation of a CT-repeat complex in the core promoter of PAXBP1 in primates. Am. J. Primatol. 76(8), 747–756 (2014).
Bilgin Sonay, T. et al. Tandem repeat variation in human and great ape populations and its impact on gene expression divergence. Genome Res. 25(11), 1591–1599. doi.org/10.1101/gr.190868.115 (2015) (Epub 2015 Aug 19).
Afshar, H., Khamse, S., Alizadeh, F., Delbari, A., Najafipour, R., Bozorgmehr, A. et al. Evolving evidence on a link between the ZMYM3 exceptionally long GA-STR and human cognition. 2045–2322 Contract No: 1 (2020).
Rosas, I. et al. Role for ATXN1, ATXN2, and HTT intermediate repeats in frontotemporal dementia and Alzheimer’s disease. Neurobiol. Aging. 87, 139.e1-139.e7. doi.org/10.1016/j.neurobiolaging.2019.10.017 (2020) (Epub 2019 Nov 1).
Darvish, H. et al. Biased homozygous haplotypes across the human caveolin 1 upstream purine complex in Parkinson’s disease. J. Mol. Neurosci. 51(2), 389–393. doi.org/10.1007/s12031-013-0021-9 (2013) (Epub 2013 May 4).
Namdar-Aligoodarzi, P. et al. Exceptionally long 5′ UTR short tandem repeats specifically linked to primates. Gene 569(1), 88–94 (2015).
Li, Q. S., Sun, Y. & Wang, T. Epigenome-wide association study of Alzheimer’s disease replicates 22 differentially methylated positions and 30 differentially methylated regions. Clin. Epigenetics 12(1), 1–14 (2020).
Annear, D. J. et al. Abundancy of polymorphic CGG repeats in the human genome suggest a broad involvement in neurological disease. Sci. Rep. 11(1), 1–11 (2021).
Jiao, B. et al. Identification of expanded repeats in NOTCH2NLC in neurodegenerative dementias. Neurobiol. Aging. 89, 1421.e1-e7 (2020).
LaCroix, A. J. et al. GGC repeat expansion and exon 1 methylation of XYLT1 is a common pathogenic variant in Baratela-Scott syndrome. Am. J. Hum. Genet. 104(1), 35–44 (2019).
Ma, D. et al. Association of NOTCH2NLC repeat expansions with Parkinson disease. JAMA Neurol. 77(12), 1559–1563 (2020).
Sone, J. et al. Long-read sequencing identifies GGC repeat expansions in NOTCH2NLC associated with neuronal intranuclear inclusion disease. Nat. Genet. 51(8), 1215–1221 (2019).
Ajjugal, Y., Kolimi, N. & Rathinavelan, T. Secondary structural choice of DNA and RNA associated with CGG/CCG trinucleotide repeat expansion rationalizes the RNA misprocessing in FXTAS. Sci. Rep. 11(1), 1–17 (2021).
Kumutpongpanich, T. et al. Clinicopathologic features of oculopharyngodistal myopathy with LRP12 CGG repeat expansions compared with other oculopharyngodistal myopathy subtypes. JAMA Neurol. 78(7), 853–863. doi.org/10.1001/jamaneurol.2021.1509 (2021).
Foroughan, M. et al. Validity and reliability of a bbreviated Mental TEst Score (AMTS) among older Iranian. Psychogeriatrics 17(6), 460–465 (2017).
Hodkinson, H. Evaluation of a mental test score for assessment of mental impairment in the elderly. Age Ageing 1(4), 233–238 (1972).
Folstein, M. A practical method for grading the cognitive state of patients for the children. J. Psychiatr. Res. 12, 189–198 (1975).
Carpenter, C. R. et al. Accuracy of dementia screening instruments in emergency medicine: A diagnostic meta-analysis. Acad. Emerg. Med. Off. J. Soc. Acad. Emerg. Med 26(2), 226–245 (2019).
Sullivan, K. M., Dean, A. & Soe, M. M. OpenEpi: A web-based epidemiologic and statistical calculator for public health. Public Health Rep. 124(3), 471–474. doi.org/10.1177/003335490912400320 (2009).
Drenos, F. & Kirkwood, T. B. Selection on alleles affecting human longevity and late-life disease: the example of apolipoprotein E. PLoS One. 5(4), e10022 (2010).
Raj, T. et al. Alzheimer disease susceptibility loci: Evidence for a protein network under natural selection. Am. J. Hum. Genet. 90(4), 720–726 (2012).
Thierry-Mieg, D. & Thierry-Mieg, J. AceView: A comprehensive cDNA-supported gene and transcripts annotation. Genome Biol. 7(1), 1–14 (2006).
Persico, A. M., Levitt, P. & Pimenta, A. F. Polymorphic GGC repeat differentially regulates human reelin gene expression levels. J. Neural Transm. (Vienna). 113(10), 1373–1382. doi.org/10.1007/s00702-006-0441-6 (2006) (Epub 2006 Apr 11).
Sutcliffe, J. S. et al. DNA methylation represses FMR-1 transcription in fragile X syndrome. Hum. Mol. Genet. 1(6), 397–400. doi.org/10.1093/hmg/1.6.397 (1992).
Boivin, M. et al. Translation of GGC repeat expansions into a toxic polyglycine protein in NIID defines a novel class of human genetic disorders: The polyG diseases. Neuron 109(11), 1825-1835.e5. doi.org/10.1016/j.neuron.2021.03.038 (2021) (Epub 2021 Apr 21).
de Frutos-Lucas, J. et al. Does APOE genotype moderate the relationship between physical activity, brain health and dementia risk? A systematic review. Ageing Res. Rev. 64, 101173 (2020).
Karantzoulis, S. & Galvin, J. E. Distinguishing Alzheimer’s disease from other major forms of dementia. Expert Rev. Neurother. 11(11), 1579–1591 (2011).
Lin, Y.-F. et al. Genetic overlap between vascular pathologies and Alzheimer’s dementia and potential causal mechanisms. Alzheimers Dement. 15(1), 65–75 (2019).
Noori, A., Mezlini, A. M., Hyman, B. T., Serrano-Pozo, A. & Das, S. Systematic review and meta-analysis of human Transcriptomics reveals Neuroinflammation, deficient energy metabolism, and Proteostasis failure across Neurodegeneration. Neurobiol. Dis. 167, 105225 (2020).
Read more here: Source link