Literature DB >> 22541286

Genomic determinants in the phenotypic variability of Down syndrome.

Audrey Letourneau1, Stylianos E Antonarakis.   

Abstract

Down syndrome caused by trisomy 21 is a collection of phenotypes with variable expressivity and penetrance. The significant advances in exploring the human genome now provide the tools to better understand the contribution of trisomy 21 in the different manifestations of Down syndrome, and the functional links between the genome variability and the phenotypic variability.
Copyright © 2012 Elsevier B.V. All rights reserved.

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Year:  2012        PMID： 22541286     DOI： 10.1016/B978-0-444-54299-1.00002-9

Source DB:  PubMed          Journal:  Prog Brain Res        ISSN： 0079-6123            Impact factor:   2.453


  10 in total

Review 1.  Down syndrome and the complexity of genome dosage imbalance.

Authors:  Stylianos E Antonarakis
Journal:  Nat Rev Genet       Date:  2016-12-28       Impact factor: 53.242

2.  Deficits in human trisomy 21 iPSCs and neurons.

Authors:  Jason P Weick; Dustie L Held; George F Bonadurer; Matthew E Doers; Yan Liu; Chelsie Maguire; Aaron Clark; Joshua A Knackert; Katharine Molinarolo; Michael Musser; Lin Yao; Yingnan Yin; Jianfeng Lu; Xiaoqing Zhang; Su-Chun Zhang; Anita Bhattacharyya
Journal:  Proc Natl Acad Sci U S A       Date:  2013-05-28       Impact factor: 11.205

3.  Domains of genome-wide gene expression dysregulation in Down's syndrome.

Authors:  Audrey Letourneau; Federico A Santoni; Ximena Bonilla; M Reza Sailani; David Gonzalez; Jop Kind; Claire Chevalier; Robert Thurman; Richard S Sandstrom; Youssef Hibaoui; Marco Garieri; Konstantin Popadin; Emilie Falconnet; Maryline Gagnebin; Corinne Gehrig; Anne Vannier; Michel Guipponi; Laurent Farinelli; Daniel Robyr; Eugenia Migliavacca; Christelle Borel; Samuel Deutsch; Anis Feki; John A Stamatoyannopoulos; Yann Herault; Bas van Steensel; Roderic Guigo; Stylianos E Antonarakis
Journal:  Nature       Date:  2014-04-17       Impact factor: 49.962

4.  A genomic approach to study down syndrome and cancer inverse comorbidity: untangling the chromosome 21.

Authors:  Jaume Forés-Martos; Raimundo Cervera-Vidal; Enrique Chirivella; Alberto Ramos-Jarero; Joan Climent
Journal:  Front Physiol       Date:  2015-02-04       Impact factor: 4.566

5.  Beyond Trisomy 21: Phenotypic Variability in People with Down Syndrome Explained by Further Chromosome Mis-segregation and Mosaic Aneuploidy.

Authors:  Huntington Potter
Journal:  J Down Syndr Chromosom Abnorm       Date:  2016-03-31

Review 6.  Mitochondrial dysfunction in down syndrome: molecular mechanisms and therapeutic targets.

Authors:  Antonella Izzo; Nunzia Mollo; Maria Nitti; Simona Paladino; Gaetano Calì; Rita Genesio; Ferdinando Bonfiglio; Rita Cicatiello; Maria Barbato; Viviana Sarnataro; Anna Conti; Lucio Nitsch
Journal:  Mol Med       Date:  2018-03-15       Impact factor: 6.354

7.  Partial trisomy 21 map: Ten cases further supporting the highly restricted Down syndrome critical region (HR-DSCR) on human chromosome 21.

Authors:  Maria Chiara Pelleri; Elena Cicchini; Michael B Petersen; Lisbeth Tranebjaerg; Teresa Mattina; Pamela Magini; Francesca Antonaros; Maria Caracausi; Lorenza Vitale; Chiara Locatelli; Marco Seri; Pierluigi Strippoli; Allison Piovesan; Guido Cocchi
Journal:  Mol Genet Genomic Med       Date:  2019-06-25       Impact factor: 2.183

8.  The Effect of Maternal Age on the Incidence of Major Malformations and Operations in Children with Down Syndrome.

Authors:  Elif Yilmaz Gulec; Alper Gezdirici
Journal:  Medeni Med J       Date:  2022-09-21

9.  Weaker control of the electrical properties of cerebellar granule cells by tonically active GABAA receptors in the Ts65Dn mouse model of Down's syndrome.

Authors:  Marianna Szemes; Rachel L Davies; Claire Lp Garden; Maria M Usowicz
Journal:  Mol Brain       Date:  2013-07-19       Impact factor: 4.041

10.  Overexpression of Chromosome 21 miRNAs May Affect Mitochondrial Function in the Hearts of Down Syndrome Fetuses.

Authors:  Antonella Izzo; Rosanna Manco; Tiziana de Cristofaro; Ferdinando Bonfiglio; Rita Cicatiello; Nunzia Mollo; Marco De Martino; Rita Genesio; Mariastella Zannini; Anna Conti; Lucio Nitsch
Journal:  Int J Genomics       Date:  2017-09-05       Impact factor: 2.326
  10 in total

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