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Concise review: new paradigms for Down syndrome research using induced pluripotent stem cells: tackling complex human genetic disease.

Briggs JA, Mason EA, Ovchinnikov DA, Wells CA, Wolvetang EJ.

Stem Cells Transl Med. 2013 Mar;2(3):175-84. doi: 10.5966/sctm.2012-0117. Epub 2013 Feb 14. Review.


Integration-free induced pluripotent stem cells model genetic and neural developmental features of down syndrome etiology.

Briggs JA, Sun J, Shepherd J, Ovchinnikov DA, Chung TL, Nayler SP, Kao LP, Morrow CA, Thakar NY, Soo SY, Peura T, Grimmond S, Wolvetang EJ.

Stem Cells. 2013 Mar;31(3):467-78. doi: 10.1002/stem.1297.


Mental retardation in Down syndrome: from gene dosage imbalance to molecular and cellular mechanisms.

Rachidi M, Lopes C.

Neurosci Res. 2007 Dec;59(4):349-69. Epub 2007 Aug 15. Review.


DYRK1A-dosage imbalance perturbs NRSF/REST levels, deregulating pluripotency and embryonic stem cell fate in Down syndrome.

Canzonetta C, Mulligan C, Deutsch S, Ruf S, O'Doherty A, Lyle R, Borel C, Lin-Marq N, Delom F, Groet J, Schnappauf F, De Vita S, Averill S, Priestley JV, Martin JE, Shipley J, Denyer G, Epstein CJ, Fillat C, Estivill X, Tybulewicz VL, Fisher EM, Antonarakis SE, Nizetic D.

Am J Hum Genet. 2008 Sep;83(3):388-400. doi: 10.1016/j.ajhg.2008.08.012. Epub 2008 Sep 4.


Generation of disease-specific induced pluripotent stem cells from patients with different karyotypes of Down syndrome.

Mou X, Wu Y, Cao H, Meng Q, Wang Q, Sun C, Hu S, Ma Y, Zhang H.

Stem Cell Res Ther. 2012 Apr 18;3(2):14. doi: 10.1186/scrt105.


Modeling neurogenesis impairment in Down syndrome with induced pluripotent stem cells from Trisomy 21 amniotic fluid cells.

Lu HE, Yang YC, Chen SM, Su HL, Huang PC, Tsai MS, Wang TH, Tseng CP, Hwang SM.

Exp Cell Res. 2013 Feb 15;319(4):498-505. doi: 10.1016/j.yexcr.2012.09.017. Epub 2012 Oct 4.


Trisomy correction in Down syndrome induced pluripotent stem cells.

Li LB, Chang KH, Wang PR, Hirata RK, Papayannopoulou T, Russell DW.

Cell Stem Cell. 2012 Nov 2;11(5):615-9. doi: 10.1016/j.stem.2012.08.004. Epub 2012 Oct 18.


The power of comparative and developmental studies for mouse models of Down syndrome.

Moore CS, Roper RJ.

Mamm Genome. 2007 Jul;18(6-7):431-43. Epub 2007 Jul 26. Review.


Self-organizing map of gene regulatory networks for cell phenotypes during reprogramming.

Zhang L, Zheng Y, Li D, Zhong Y.

Comput Biol Chem. 2011 Aug 10;35(4):211-7. doi: 10.1016/j.compbiolchem.2011.05.002. Epub 2011 May 26.


Developmental instability of the cerebellum and its relevance to Down syndrome.

Shapiro BL.

J Neural Transm Suppl. 2001;(61):11-34. Review.


A new mouse model for Down syndrome.

Kazuki Y, Schulz TC, Shinohara T, Kadota M, Nishigaki R, Inoue T, Kimura M, Kai Y, Abe S, Shirayoshi Y, Oshimura M.

J Neural Transm Suppl. 2003;(67):1-20. Review.


Meta-analysis of heterogeneous Down Syndrome data reveals consistent genome-wide dosage effects related to neurological processes.

Vilardell M, Rasche A, Thormann A, Maschke-Dutz E, Pérez-Jurado LA, Lehrach H, Herwig R.

BMC Genomics. 2011 May 11;12:229. doi: 10.1186/1471-2164-12-229.


Developmental defects in trisomy 21 and mouse models.

Delabar JM, Aflalo-Rattenbac R, Créau N.

ScientificWorldJournal. 2006 Sep 19;6:1945-64. Review.


Molecular aspects of Down syndrome.

Dutta S, Nandagopal K, Gangopadhyay PK, Mukhopadhyay K.

Indian Pediatr. 2005 Apr;42(4):339-44. Review.


Massively parallel sequencing reveals the complex structure of an irradiated human chromosome on a mouse background in the Tc1 model of Down syndrome.

Gribble SM, Wiseman FK, Clayton S, Prigmore E, Langley E, Yang F, Maguire S, Fu B, Rajan D, Sheppard O, Scott C, Hauser H, Stephens PJ, Stebbings LA, Ng BL, Fitzgerald T, Quail MA, Banerjee R, Rothkamm K, Tybulewicz VL, Fisher EM, Carter NP.

PLoS One. 2013 Apr 15;8(4):e60482. doi: 10.1371/journal.pone.0060482. Print 2013.


Gene network disruptions and neurogenesis defects in the adult Ts1Cje mouse model of Down syndrome.

Hewitt CA, Ling KH, Merson TD, Simpson KM, Ritchie ME, King SL, Pritchard MA, Smyth GK, Thomas T, Scott HS, Voss AK.

PLoS One. 2010 Jul 16;5(7):e11561. doi: 10.1371/journal.pone.0011561.


Trisomy 21 and Down syndrome: a short review.

Sommer C, Henrique-Silva F.

Braz J Biol. 2008 May;68(2):447-52. Review.


Trisomic and allelic differences influence phenotypic variability during development of Down syndrome mice.

Deitz SL, Roper RJ.

Genetics. 2011 Dec;189(4):1487-95. doi: 10.1534/genetics.111.131391. Epub 2011 Sep 16.


Too much of a good thing: mechanisms of gene action in Down syndrome.

Reeves RH, Baxter LL, Richtsmeier JT.

Trends Genet. 2001 Feb;17(2):83-8. Review.


Down syndrome clinical symptoms are manifested in transfected cells and transgenic mice overexpressing the human Cu/Zn-superoxide dismutase gene.

Groner Y, Elroy-Stein O, Avraham KB, Yarom R, Schickler M, Knobler H, Rotman G.

J Physiol (Paris). 1990;84(1):53-77.

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