Literature DB >> 15510164

Chromosome 21 and down syndrome: from genomics to pathophysiology.

Stylianos E Antonarakis1, Robert Lyle, Emmanouil T Dermitzakis, Alexandre Reymond, Samuel Deutsch.   

Abstract

The sequence of chromosome 21 was a turning point for the understanding of Down syndrome. Comparative genomics is beginning to identify the functional components of the chromosome and that in turn will set the stage for the functional characterization of the sequences. Animal models combined with genome-wide analytical methods have proved indispensable for unravelling the mysteries of gene dosage imbalance.

Mesh：

Year:  2004        PMID： 15510164     DOI： 10.1038/nrg1448

Source DB:  PubMed          Journal:  Nat Rev Genet        ISSN： 1471-0056            Impact factor:   53.242


  227 in total

1.  BDNF and DYRK1A are variable and inversely correlated in lymphoblastoid cell lines from Down syndrome patients.

Authors:  Asma Tlili; Alexander Hoischen; Clémentine Ripoll; Eva Benabou; Anne Badel; Anne Ronan; Renaud Touraine; Yann Grattau; Samantha Stora; Bregje van Bon; Bert de Vries; Björn Menten; Nele Bockaert; Joseph Gecz; Stylianos E Antonarakis; Dominique Campion; Marie-Claude Potier; Henri Bléhaut; Jean-Maurice Delabar; Nathalie Janel
Journal:  Mol Neurobiol       Date:  2012-06-05       Impact factor: 5.590

2.  Homoeologous shuffling and chromosome compensation maintain genome balance in resynthesized allopolyploid Brassica napus.

Authors:  Zhiyong Xiong; Robert T Gaeta; J Chris Pires
Journal:  Proc Natl Acad Sci U S A       Date:  2011-04-21       Impact factor: 11.205

3.  Ohnologs in the human genome are dosage balanced and frequently associated with disease.

Authors:  Takashi Makino; Aoife McLysaght
Journal:  Proc Natl Acad Sci U S A       Date:  2010-05-03       Impact factor: 11.205

Review 4.  Down syndrome: from understanding the neurobiology to therapy.

Authors:  Katheleen Gardiner; Yann Herault; Ira T Lott; Stylianos E Antonarakis; Roger H Reeves; Mara Dierssen
Journal:  J Neurosci       Date:  2010-11-10       Impact factor: 6.167

5.  Genome-wide linkage analysis for ocular and nasal anthropometric traits in a Mongolian population.

Authors:  Sun-Wha Im; Hyun-Jin Kim; Mi Kyeong Lee; Jae-hyuk Yi; Ganchimeg Jargal; Joohon Sung; Sung-il Cho; Jong-Il Kim
Journal:  Exp Mol Med       Date:  2010-12-31       Impact factor: 8.718

6.  Trisomy of the G protein-coupled K+ channel gene, Kcnj6, affects reward mechanisms, cognitive functions, and synaptic plasticity in mice.

Authors:  Ayelet Cooper; Gayane Grigoryan; Liora Guy-David; Michael M Tsoory; Alon Chen; Eitan Reuveny
Journal:  Proc Natl Acad Sci U S A       Date:  2012-01-30       Impact factor: 11.205

7.  DYRK1A overexpression enhances STAT activity and astrogliogenesis in a Down syndrome mouse model.

Authors:  Nobuhiro Kurabayashi; Minh Dang Nguyen; Kamon Sanada
Journal:  EMBO Rep       Date:  2015-09-15       Impact factor: 8.807

8.  The prevalence of live birth Down syndrome in the region of Primorsko-goranska County in Croatia, 1996-2005: the impact of screening and amniocentesis.

Authors:  Bojana Brajenović-Milić; Igor Prpić; Oleg Petrović; Smiljana Ristić; Gordana Brumini; Miljenko Kapović
Journal:  Matern Child Health J       Date:  2007-08-22

9.  Creation and characterization of BAC-transgenic mice with physiological overexpression of epitope-tagged RCAN1 (DSCR1).

Authors:  Luzhou Xing; Martha Salas; Hong Zhang; Julia Gittler; Thomas Ludwig; Chyuan-Sheng Lin; Vundavalli V Murty; Wayne Silverman; Ottavio Arancio; Benjamin Tycko
Journal:  Mamm Genome       Date:  2012-10-25       Impact factor: 2.957

10.  Segmental trisomy of chromosome 17: a mouse model of human aneuploidy syndromes.

Authors:  Tomás Vacík; Michael Ort; Sona Gregorová; Petr Strnad; Radek Blatny; Nathalie Conte; Allan Bradley; Jan Bures; Jirí Forejt
Journal:  Proc Natl Acad Sci U S A       Date:  2005-03-08       Impact factor: 11.205
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