Journal ArticleDOI
Identification of dysregulated genes in lymphocytes from children with Down syndrome.
Cesar Sommer,Erika Cristina Pavarino-Bertelli,Eny Maria Goloni-Bertollo,Flávio Henrique-Silva +3 more
TLDR
The results indicate that trisomy 21 induces a modest dysregulation of disomic genes that may be related to the immunological perturbations seen in DS.Abstract:
The molecular mechanisms by which trisomy of human chromosome 21 disrupts normal development are not well understood. Global transcriptome studies attempting to analyze the consequences of trisomy ...read more
Citations
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Uncovering the Complexity of Transcriptomes with RNA-Seq
TL;DR: The paper aims to give a survey of the RNA-Seq methodology, particularly focusing on the challenges that this application presents both from a biological and a bioinformatics point of view.
Journal ArticleDOI
Domains of genome-wide gene expression dysregulation in Down/'s syndrome
Audrey Letourneau,Federico Santoni,Ximena Bonilla,M. Reza Sailani,David Gonzalez,Jop Kind,Claire Chevalier,Robert E. Thurman,Richard 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 Guigó,Stylianos E. Antonarakis +27 more
TL;DR: The results indicate that the nuclear compartments of trisomic cells undergo modifications of the chromatin environment influencing the overall transcriptome, and that GEDDs may therefore contribute to some trisomy 21 phenotypes.
Journal ArticleDOI
Molecular genetic analysis of Down syndrome.
TL;DR: Progress in understanding the genetic mechanisms by which trisomy of HSA21 leads to DS is the subject of this review.
Journal ArticleDOI
RNA-Seq and human complex diseases: recent accomplishments and future perspectives
TL;DR: An overview on gene expression profiling of complex diseases, with emphasis on RNA-Seq, its advantages over conventional technologies for studying cancer and ND, and for linking nucleotide variations to gene expression changes are provided, also discussing its limitations.
Journal ArticleDOI
Meta-analysis of heterogeneous Down Syndrome data reveals consistent genome-wide dosage effects related to neurological processes
Mireia Vilardell,Mireia Vilardell,Axel Rasche,Anja Thormann,Elisabeth Maschke-Dutz,Luis A. Pérez-Jurado,Hans Lehrach,Ralf Herwig +7 more
TL;DR: This study represents a comprehensive integrative analysis of heterogeneous data including genome-wide transcript levels in the domain of trisomy 21, and detected dosage effects build a resource for further studies of DS pathology and the development of new therapies.
References
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KEGG: Kyoto Encyclopedia of Genes and Genomes
Minoru Kanehisa,Susumu Goto +1 more
TL;DR: The Kyoto Encyclopedia of Genes and Genomes (KEGG) as discussed by the authors is a knowledge base for systematic analysis of gene functions in terms of the networks of genes and molecules.
Journal ArticleDOI
DAVID: Database for Annotation, Visualization, and Integrated Discovery
Glynn Dennis,Brad T. Sherman,Douglas A. Hosack,Jun Jun Yang,Wei Gao,H. Clifford Lane,Richard A. Lempicki +6 more
TL;DR: DAMID is a web-accessible program that integrates functional genomic annotations with intuitive graphical summaries that assists in the interpretation of genome-scale datasets by facilitating the transition from data collection to biological meaning.
Journal ArticleDOI
The Significance of Digital Gene Expression Profiles
TL;DR: The first systematic study on the influence of random fluctuations and sampling size on the reliability of transcript profiles generated routinely by partially sequencing thousands of randomly selected clones from relevant cDNA libraries is presented.
Journal ArticleDOI
Identifying biological themes within lists of genes with EASE
TL;DR: EASE is a customizable software application for rapid biological interpretation of gene lists that result from the analysis of microarray, proteomics, SAGE and other high-throughput genomic data and is robust to varying methods of normalization, intensity calculation and statistical selection of genes.
Journal ArticleDOI
Impaired B and T Cell Antigen Receptor Signaling in p110δ PI 3-Kinase Mutant Mice
Klaus Okkenhaug,Antonio Bilancio,Géraldine Farjot,Helen Priddle,Sara Sancho,Emma Peskett,Wayne Pearce,Stephen Meek,Ashreena Salpekar,Michael D. Waterfield,Michael D. Waterfield,Andrew J.H. Smith,Bart Vanhaesebroeck,Bart Vanhaesebroeck +13 more
TL;DR: Results reveal a selective role for p110δ in immunity and suggest second messenger signals downstream of tyrosine kinases influence cell metabolism, growth, proliferation, differentiation, motility, and survival.