Literature DB >> 16935027

The challenge of Down syndrome.

Stylianos E Antonarakis1, Charles J Epstein.   

Abstract

Down syndrome (DS) has been recognized as a clinical entity for about 150 years, but it is only recently that there has been hope for the possibility to understand its pathogenesis and to use this information to devise approaches for the prevention and treatment of its numerous features. The earlier pessimism was due to several reasons, including: (i) the nature of the genetic defect that leads to the syndrome; (ii) the multiplicity of systems involved; and (iii) the high degree of variability of the phenotype. However, science has now caught up with the problem, and recent developments, especially in genetics, genomics, developmental biology and neuroscience, suggest that these potential impediments might not be as arduous as once appeared. As a result, basic research on DS is now rapidly accelerating, and there is hope that the findings will be translatable into benefit for people with DS.

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Year:  2006        PMID: 16935027     DOI: 10.1016/j.molmed.2006.08.005

Source DB:  PubMed          Journal:  Trends Mol Med        ISSN: 1471-4914            Impact factor:   11.951


  40 in total

1.  Working memory in the aged Ts65Dn mouse, a model for Down syndrome.

Authors:  Katharine N Whitney; Galen R Wenger
Journal:  Behav Brain Res       Date:  2012-04-04       Impact factor: 3.332

2.  Language Characteristics of Individuals with Down Syndrome.

Authors:  Gary E Martin; Jessica Klusek; Bruno Estigarribia; Joanne E Roberts
Journal:  Top Lang Disord       Date:  2009-04

3.  Screening key genes associated with congenital heart defects in Down syndrome based on differential expression network.

Authors:  Shan Yu; Huani Yi; Zhimin Wang; Juan Dong
Journal:  Int J Clin Exp Pathol       Date:  2015-07-01

4.  The chromatin-binding protein HMGN1 regulates the expression of methyl CpG-binding protein 2 (MECP2) and affects the behavior of mice.

Authors:  Liron Abuhatzira; Alon Shamir; Dustin E Schones; Alejandro A Schäffer; Michael Bustin
Journal:  J Biol Chem       Date:  2011-10-17       Impact factor: 5.157

5.  Gene expression variation increase in trisomy 21 tissues.

Authors:  Ching Yu Chou; Li Yu Liu; Chien Yu Chen; Cheng Hsien Tsai; Hsiao Lin Hwa; Li Yun Chang; Yi Shing Lin; Fon Jou Hsieh
Journal:  Mamm Genome       Date:  2008-07-02       Impact factor: 2.957

6.  Synaptojanin 1-linked phosphoinositide dyshomeostasis and cognitive deficits in mouse models of Down's syndrome.

Authors:  Sergey V Voronov; Samuel G Frere; Silvia Giovedi; Elizabeth A Pollina; Christelle Borel; Hong Zhang; Cecilia Schmidt; Ellen C Akeson; Markus R Wenk; Laurent Cimasoni; Ottavio Arancio; Muriel T Davisson; Stylianos E Antonarakis; Katheleen Gardiner; Pietro De Camilli; Gilbert Di Paolo
Journal:  Proc Natl Acad Sci U S A       Date:  2008-06-30       Impact factor: 11.205

7.  DSCAM is a netrin receptor that collaborates with DCC in mediating turning responses to netrin-1.

Authors:  Alice Ly; Anatoly Nikolaev; Geetha Suresh; Yufang Zheng; Marc Tessier-Lavigne; Elke Stein
Journal:  Cell       Date:  2008-06-27       Impact factor: 41.582

8.  Single-Word Speech Intelligibility in Children and Adults With Down Syndrome.

Authors:  Alyssa Wild; Houri K Vorperian; Ray D Kent; Daniel M Bolt; Diane Austin
Journal:  Am J Speech Lang Pathol       Date:  2018-02-06       Impact factor: 2.408

9.  Down syndrome fibroblasts and mouse Prep1-overexpressing cells display increased sensitivity to genotoxic stress.

Authors:  Nicola Micali; Elena Longobardi; Giorgio Iotti; Carmelo Ferrai; Laura Castagnaro; Mario Ricciardi; Francesco Blasi; Massimo P Crippa
Journal:  Nucleic Acids Res       Date:  2010-01-27       Impact factor: 16.971

10.  A new mouse model for the trisomy of the Abcg1-U2af1 region reveals the complexity of the combinatorial genetic code of down syndrome.

Authors:  Patricia Lopes Pereira; Laetitia Magnol; Ignasi Sahún; Véronique Brault; Arnaud Duchon; Paola Prandini; Agnès Gruart; Jean-Charles Bizot; Bernadette Chadefaux-Vekemans; Samuel Deutsch; Fabrice Trovero; José María Delgado-García; Stylianos E Antonarakis; Mara Dierssen; Yann Herault
Journal:  Hum Mol Genet       Date:  2009-09-26       Impact factor: 6.150

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