Page 13 - AN-4-1
P. 13

Advanced Neurology                                          Improving cognitive development in Down syndrome



               doi: 10.1371/journal.pone.0215368.2019             regulator of neuronal development.  FEBS J. 2010;278:
                                                                  223-235.
            5.   Gray K, Wilkins-Haug L. Have we done our last
               amniocentesis? Updates on cell-free DNA for Down      doi: 10.1111/j.1742-4658.2010.07954.x
               syndrome screening. Pediatr Radiol. 2018;48:461-470.
                                                               17.  Chapman L, Ramnarine I, Zemke D, et al. Gene expression
               doi: 10.1007/s00247-017-3958-y                     studies in Down syndrome: What do they tell us about
            6.   De Graaf G, Buckley F, Skotko B. Estimation of the number   disease phenotypes? Int J Mol Sci. 2024;25:2968.
               of people  with Down syndrome in Europe.  Europ J Hum      doi: 10.3390/ijms25052968
               Gen. 2021;29:402-410.
                                                               18.  Guedj F, Sébrié C, Rivals I, et al. Green tea polyphenols
               doi: 10.1038/s41431-020-00748-y                    rescue of brain defects induced by overexpression of
                                                                  DYRK1A. PLoS One. 2009;4:e4606.
            7.   De Graaf G, Buckley F, Skotko B. Estimation of the number
               of people with Down syndrome in the United States. Gen      doi: 10.1371/journal.pone.0004606
               Med. 2016;201:439-447.
                                                               19.  Stagni F, Giacomini A, Emili M, et al. Short-and long-term
               doi: 10.1038/gim.216.127                           effects of neonatal pharmacotherapy with epigallocatechin-
            8.   O’Leary L, Cooper S, McCormack H. Early death and causes   3-gallate on hippocampal development in the Ts65Dn mouse
               of death of people with Down syndrome: A  systematic   model of down syndrome. Neuroscience. 2016;333:277-301.
               review. J Appl Res Intellect Disabil. 2018;31:325-342.     doi: 10.1016/j.neuroscience.2016.07.031
               doi: 10.1111/jar.12417                          20.  Starbuck J, llambrich S, Gonzales R, et al. Green tea extracts
            9.   Abukhaled Y, Hatab K, Awadhalla M, et al. Understanding   containing  epigallocatechin-3-gallate  modulate  facial
               the genetic mechanisms and cognitive impairments in   development in Down syndrome. Sci Rep. 2021;11:4715.
               Down syndrome: Towards  a holistic approach.  J  Neurol.      doi: 10.1038/s41598-021-83757-1
               2024;271:87-104.
                                                               21.  De la Torre R, De Sola S, Hernandez G, et al. Safety and
               doi: 10.1007/s00415-023-11890-0                    efficacy of cognitive training plus epigallocatechin-3-
            10.  Amano T, Jeffries E, Amano M, Ko AC, Yu H, Ko MS.   gallate in young adults with Down’s syndrome (TESDAD):
               Correction of down syndrome and edwards syndrome   A  double-blind, randomized, placebo-controlled, phase 2
               aneuploidies in human cell cultures.  DNA Res. 2015;22:   trial. Lancet Neurol. 2016;15:801-810.
               331-342.                                           doi: 10.1016/S1474-4422(16)30034-5
               doi: 10.1093/dnares/dsv016                      22.  Prandini P, Deutsch S, Lyle R, et al. Natural gene-expression
            11.  Li L, Chang K, Wang P, et al. Trisomy correction in Down   variation  in  Down  syndrome  modulates  the  outcome  of
               syndrome induced pluripotent stem cells.  Cell Stem Cell.   gene dosage imbalance. Am J Hum Genet. 2007;81:252-263.
               2012;11:615-619.                                   doi: 10.1086/519248
               doi: 10.1016/j.stem.2012.08.004                 23.  Hunter S, Hendrix J, Freeman J, Allen MA. Transcription
            12.  Jiang J, Jing Y, Cost G, et al. Translating dosage compensation   dosage compensation does not occur in Down syndrome.
               to trisomy 21. Nature. 2013;500:296-300.           BMC Biol. 2023;21:228.
               doi: 10.1038/nature12394                           doi: 10.1186/s12915-023-01700-4
            13.  Czerminsky J, Lawrence J. Silencing trisomy 21 with XIST   24.  Donovan M, Eduthan N, Smith K,  et al. Variegated
               in neural stem cells promotes neuronal differentiation. Dev   overexpression of chromosome 21 genes reveals molecular
               Cell. 2020;52:294-308.                             and immune subtypes of down syndrome.  Nat Com.
                                                                  2024;15:5473.
               doi: 10.1016/j.devcel.2019.12.015
                                                                  doi: 10.1038/s41467-024-49781-1
            14.  Dumont M. Qualité et sélection des embryons.  J  Gynécol
               Obstét Biol Reprod. 2008;17:S9-S13.             25.  Takashima S, Iida K, Mito T, Arima M. Dendritic and
                                                                  histochemical development and ageing in patients with
               doi: 10.1016/S0368-2315(08)73844-4                 Down’s syndrome. J Intellect Disabil Res. 1994;3:265-273.
            15.  Aït Yahya-Graison E,  Aubert J, Dauphinot L,  et al.      doi: 10.1111/j.1365-2788.1994.tb00394.x
               Classification of human chromosome 21 gene-expression
               variations in Down syndrome: Impact on disease   26.  Qiu  JJ,  Liu  YN,  Wey  H,  Zeng  F,  Yan  JB.  Single-cell  RNA
               phenotypes. Am J Hum Genet. 2007;81:475-491.       sequencing of neural stem cells derived from human
                                                                  trisomic iPSCs reveals the abnormalities during neural
               doi: 10.1086/520000
                                                                  differentiation  of  down  syndrome. Front Mol Neurosci.
            16.  Tejedor F, Hammerle B. MNB/DYRK1A as a multiple   2023;16:1137.


            Volume 4 Issue 1 (2025)                         7                                doi: 10.36922/an.3785
   8   9   10   11   12   13   14   15   16   17   18