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Tetratricopeptide repeat domain 3 overexpression tends to form aggregates and inhibit ubiquitination and degradation of DNA polymerase γ.

Gong Y, Wang X, Shang X, Xiao SP, Li W, Shang Y, Dou F.

Oncotarget. 2017 Nov 17;8(63):106475-106485. doi: 10.18632/oncotarget.22476. eCollection 2017 Dec 5.


Overexpression of DYRK1A, a Down Syndrome Candidate gene, Impairs Primordial Germ Cells Maintenance and Migration in zebrafish.

Liu Y, Lin Z, Liu M, Wang H, Sun H.

Sci Rep. 2017 Nov 10;7(1):15313. doi: 10.1038/s41598-017-15730-w.


Rodent models in Down syndrome research: impact and future opportunities.

Herault Y, Delabar JM, Fisher EMC, Tybulewicz VLJ, Yu E, Brault V.

Dis Model Mech. 2017 Oct 1;10(10):1165-1186. doi: 10.1242/dmm.029728. Review.


The GABAergic Hypothesis for Cognitive Disabilities in Down Syndrome.

Contestabile A, Magara S, Cancedda L.

Front Cell Neurosci. 2017 Mar 7;11:54. doi: 10.3389/fncel.2017.00054. eCollection 2017. Review.


A de novo 2.78-Mb duplication on chromosome 21q22.11 implicates candidate genes in the partial trisomy 21 phenotype.

Weisfeld-Adams JD, Tkachuk AK, Maclean KN, Meeks NL, Scott SA.

NPJ Genom Med. 2016;1. pii: 16003. Epub 2016 Mar 2. Erratum in: NPJ Genom Med. 2017 Aug 25;2:17001.


Molecular Characterization of Down Syndrome Embryonic Stem Cells Reveals a Role for RUNX1 in Neural Differentiation.

Halevy T, Biancotti JC, Yanuka O, Golan-Lev T, Benvenisty N.

Stem Cell Reports. 2016 Oct 11;7(4):777-786. doi: 10.1016/j.stemcr.2016.08.003. Epub 2016 Sep 8.


DYRK1A, a Dosage-Sensitive Gene Involved in Neurodevelopmental Disorders, Is a Target for Drug Development in Down Syndrome.

Duchon A, Herault Y.

Front Behav Neurosci. 2016 Jun 3;10:104. doi: 10.3389/fnbeh.2016.00104. eCollection 2016. Review.


Systematic reanalysis of partial trisomy 21 cases with or without Down syndrome suggests a small region on 21q22.13 as critical to the phenotype.

Pelleri MC, Cicchini E, Locatelli C, Vitale L, Caracausi M, Piovesan A, Rocca A, Poletti G, Seri M, Strippoli P, Cocchi G.

Hum Mol Genet. 2016 Jun 15;25(12):2525-2538. Epub 2016 Apr 22.


Genetic dissection of Down syndrome-associated congenital heart defects using a new mouse mapping panel.

Lana-Elola E, Watson-Scales S, Slender A, Gibbins D, Martineau A, Douglas C, Mohun T, Fisher EM, Tybulewicz VLj.

Elife. 2016 Jan 14;5. pii: e11614. doi: 10.7554/eLife.11614.


A collagen VI-dependent pathogenic mechanism for Hirschsprung's disease.

Soret R, Mennetrey M, Bergeron KF, Dariel A, Neunlist M, Grunder F, Faure C, Silversides DW, Pilon N; Ente-Hirsch Study Group.

J Clin Invest. 2015 Dec;125(12):4483-96. doi: 10.1172/JCI83178. Epub 2015 Nov 16.


Pharmacological correction of excitation/inhibition imbalance in Down syndrome mouse models.

Souchet B, Guedj F, Penke-Verdier Z, Daubigney F, Duchon A, Herault Y, Bizot JC, Janel N, Créau N, Delatour B, Delabar JM.

Front Behav Neurosci. 2015 Oct 20;9:267. doi: 10.3389/fnbeh.2015.00267. eCollection 2015.


DYRK1A-mediated Cyclin D1 Degradation in Neural Stem Cells Contributes to the Neurogenic Cortical Defects in Down Syndrome.

Najas S, Arranz J, Lochhead PA, Ashford AL, Oxley D, Delabar JM, Cook SJ, Barallobre MJ, Arbonés ML.

EBioMedicine. 2015 Jan 17;2(2):120-34. doi: 10.1016/j.ebiom.2015.01.010. eCollection 2015.


"Down syndrome: an insight of the disease".

Asim A, Kumar A, Muthuswamy S, Jain S, Agarwal S.

J Biomed Sci. 2015 Jun 11;22:41. doi: 10.1186/s12929-015-0138-y. Review.


Identification of a DNA methylation signature in blood cells from persons with Down Syndrome.

Bacalini MG, Gentilini D, Boattini A, Giampieri E, Pirazzini C, Giuliani C, Fontanesi E, Scurti M, Remondini D, Capri M, Cocchi G, Ghezzo A, Del Rio A, Luiselli D, Vitale G, Mari D, Castellani G, Fraga M, Di Blasio AM, Salvioli S, Franceschi C, Garagnani P.

Aging (Albany NY). 2015 Feb;7(2):82-96.


Functional transcriptome analysis of the postnatal brain of the Ts1Cje mouse model for Down syndrome reveals global disruption of interferon-related molecular networks.

Ling KH, Hewitt CA, Tan KL, Cheah PS, Vidyadaran S, Lai MI, Lee HC, Simpson K, Hyde L, Pritchard MA, Smyth GK, Thomas T, Scott HS.

BMC Genomics. 2014 Jul 22;15:624. doi: 10.1186/1471-2164-15-624.


New Perspectives of Dyrk1A Role in Neurogenesis and Neuropathologic Features of Down Syndrome.

Park J, Chung KC.

Exp Neurobiol. 2013 Dec;22(4):244-8. doi: 10.5607/en.2013.22.4.244. Epub 2013 Dec 31. Review.


Prefrontal deficits in a murine model overexpressing the down syndrome candidate gene dyrk1a.

Thomazeau A, Lassalle O, Iafrati J, Souchet B, Guedj F, Janel N, Chavis P, Delabar J, Manzoni OJ.

J Neurosci. 2014 Jan 22;34(4):1138-47. doi: 10.1523/JNEUROSCI.2852-13.2014.


Genetic alterations in syndromes with oral manifestations.

Anuthama K, Prasad H, Ramani P, Premkumar P, Natesan A, Sherlin HJ.

Dent Res J (Isfahan). 2013 Nov;10(6):713-22. Review.


Increased dosage of DYRK1A and DSCR1 delays neuronal differentiation in neocortical progenitor cells.

Kurabayashi N, Sanada K.

Genes Dev. 2013 Dec 15;27(24):2708-21. doi: 10.1101/gad.226381.113.


Unraveling the complexity of neurodegeneration in brains of subjects with Down syndrome: insights from proteomics.

Perluigi M, Di Domenico F, Buttterfield DA.

Proteomics Clin Appl. 2014 Feb;8(1-2):73-85. Review.

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