Literature DB >> 11377958

Chromosome 21: from sequence to applications.

S E Antonarakis1.   

Abstract

Last year we celebrated the sequencing of the entire long arm of human chromosome 21. This achievement now provides unprecedented opportunities to understand the molecular pathophysiology of trisomy 21, elucidate the mechanisms of all monogenic disorders of chromosome 21, and discover genes and functional sequence variations that predispose to common complex disorders. All these steps require the functional analysis of gene products and the determination of the sequence variation of this chromosome.

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Year:  2001        PMID： 11377958     DOI： 10.1016/s0959-437x(00)00185-4

Source DB:  PubMed          Journal:  Curr Opin Genet Dev        ISSN： 0959-437X            Impact factor:   5.578


  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.  Gene expression changes in the MAPK pathway in both Fragile X and Down syndrome human neural progenitor cells.

Authors:  Erin L McMillan; Allison L Kamps; Samuel S Lake; Clive N Svendsen; Anita Bhattacharyya
Journal:  Am J Stem Cells       Date:  2012-06-03

3.  A mouse model of Down syndrome trisomic for all human chromosome 21 syntenic regions.

Authors:  Tao Yu; Zhongyou Li; Zhengping Jia; Steven J Clapcote; Chunhong Liu; Shaomin Li; Suhail Asrar; Annie Pao; Rongqing Chen; Ni Fan; Sandra Carattini-Rivera; Allison R Bechard; Shoshana Spring; R Mark Henkelman; George Stoica; Sei-Ichi Matsui; Norma J Nowak; John C Roder; Chu Chen; Allan Bradley; Y Eugene Yu
Journal:  Hum Mol Genet       Date:  2010-05-04       Impact factor: 6.150

4.  Placental transcriptomes in the common aneuploidies reveal critical regions on the trisomic chromosomes and genome-wide effects.

Authors:  Katherine Bianco; Matthew Gormley; Jason Farrell; Yan Zhou; Oliver Oliverio; Hannah Tilden; Michael McMaster; Susan J Fisher
Journal:  Prenat Diagn       Date:  2016-07-25       Impact factor: 3.050

Review 5.  Human Models Are Needed for Studying Human Neurodevelopmental Disorders.

Authors:  Xinyu Zhao; Anita Bhattacharyya
Journal:  Am J Hum Genet       Date:  2018-12-06       Impact factor: 11.025

6.  Genes, pseudogenes, and Alu sequence organization across human chromosomes 21 and 22.

Authors:  Chingfer Chen; Andrew J Gentles; Jerzy Jurka; Samuel Karlin
Journal:  Proc Natl Acad Sci U S A       Date:  2002-02-26       Impact factor: 11.205

7.  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

8.  A critical period in cortical interneuron neurogenesis in down syndrome revealed by human neural progenitor cells.

Authors:  Anita Bhattacharyya; Erin McMillan; Serene I Chen; Kyle Wallace; Clive N Svendsen
Journal:  Dev Neurosci       Date:  2009-09-09       Impact factor: 2.984

Review 9.  Intellectual disability: dendritic anomalies and emerging genetic perspectives.

Authors:  Tam T Quach; Harrison J Stratton; Rajesh Khanna; Pappachan E Kolattukudy; Jérome Honnorat; Kathrin Meyer; Anne-Marie Duchemin
Journal:  Acta Neuropathol       Date:  2020-11-23       Impact factor: 17.088

10.  Integrated Quantitative Transcriptome Maps of Human Trisomy 21 Tissues and Cells.

Authors:  Maria Chiara Pelleri; Chiara Cattani; Lorenza Vitale; Francesca Antonaros; Pierluigi Strippoli; Chiara Locatelli; Guido Cocchi; Allison Piovesan; Maria Caracausi
Journal:  Front Genet       Date:  2018-04-24       Impact factor: 4.599
  10 in total

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