Articles

Search Articles

Advanced search
Help

Catalogue

Articles

Databases

X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
index medicus (18) 18
humans (16) 16
gene expression (11) 11
genetics & heredity (9) 9
genomes (8) 8
genomics (8) 8
alleles (7) 7
fibroblasts (7) 7
article (6) 6
gene-expression (6) 6
multidisciplinary sciences (6) 6
mutation (6) 6
animals (5) 5
dna methylation (5) 5
epigenetics (5) 5
genes (5) 5
genetic aspects (5) 5
biochemistry & molecular biology (4) 4
deoxyribonucleic acid--dna (4) 4
female (4) 4
genetic variation (4) 4
genome-wide association study (4) 4
infant, newborn (4) 4
male (4) 4
mice (4) 4
protein (4) 4
proteins (4) 4
research (4) 4
research article (4) 4
studies (4) 4
analysis (3) 3
biology (3) 3
biotechnology & applied microbiology (3) 3
cell line (3) 3
cells (3) 3
cells, cultured (3) 3
child (3) 3
disease (3) 3
dna sequencing (3) 3
down syndrome (3) 3
down syndrome - genetics (3) 3
enhancer elements, genetic (3) 3
expression (3) 3
gene expression regulation (3) 3
gene regulation (3) 3
genetic diversity (3) 3
genome (3) 3
genome-wide association (3) 3
methylation (3) 3
mouse (3) 3
polymorphism, single nucleotide (3) 3
sequence analysis, rna (3) 3
acquired mutations (2) 2
acute myeloid-leukemia (2) 2
allelomorphism (2) 2
binding sites (2) 2
cancer (2) 2
cell biology (2) 2
children (2) 2
chromatin (2) 2
chromatin - chemistry (2) 2
chromosomes (2) 2
chromosomes, human, pair 21 - genetics (2) 2
consanguineous families (2) 2
degradation (2) 2
deoxyribonucleic acid (2) 2
differentiation (2) 2
dna (2) 2
dna - genetics (2) 2
dna mutational analysis (2) 2
down syndrome - complications (2) 2
drosophila (2) 2
dyskinesia (2) 2
enhancers (2) 2
epigenesis, genetic (2) 2
exome - genetics (2) 2
eye development (2) 2
ezh2 (2) 2
fibroblasts - cytology (2) 2
fibroblasts - metabolism (2) 2
gene expression profiling (2) 2
gene expression regulation - genetics (2) 2
gene sequencing (2) 2
genetic predisposition to disease - genetics (2) 2
genetic research (2) 2
genetics (2) 2
genomics and evolutionary biology (2) 2
growth (2) 2
health aspects (2) 2
heterozygote (2) 2
human (2) 2
human biology and medicine (2) 2
identification (2) 2
inactivation (2) 2
kartagener syndrome - genetics (2) 2
landscape (2) 2
life sciences (2) 2
linkage (2) 2
mammalian-cells (2) 2
mechanisms (2) 2
more...
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


1. Full Text Landscape of transcription in human cells
by Djebali, Sarah and Davis, Carrie A and Merkel, Angelika and Dobin, Alex and Lassmann, Timo and Mortazavi, Ali and Tanzer, Andrea and Lagarde, Julien and Lin, Wei and Schlesinger, Felix and Xue, Chenghai and Marinov, Georgi K and Khatun, Jainab and Williams, Brian A and Zaleski, Chris and Rozowsky, Joel and Röder, Maik and Kokocinski, Felix and Abdelhamid, Rehab F and Alioto, Tyler and Antoshechkin, Igor and Baer, Michael T and Bar, Nadav S and Batut, Philippe and Bell, Kimberly and Bell, Ian and Chakrabortty, Sudipto and Chen, Xian and Chrast, Jacqueline and Curado, Joao and Derrien, Thomas and Drenkow, Jorg and Dumais, Erica and Dumais, Jacqueline and Duttagupta, Radha and Falconnet, Emilie and Fastuca, Meagan and Fejes-Toth, Kata and Ferreira, Pedro and Foissac, Sylvain and Fullwood, Melissa J and Gao, Hui and Gonzalez, David and Gordon, Assaf and Gunawardena, Harsha and Howald, Cedric and Jha, Sonali and Johnson, Rory and Kapranov, Philipp and King, Brandon and Kingswood, Colin and Luo, Oscar J and Park, Eddie and Persaud, Kimberly and Preall, Jonathan B and Ribeca, Paolo and Risk, Brian and Robyr, Daniel and Sammeth, Michael and Schaffer, Lorian and See, Lei-Hoon and Shahab, Atif and Skancke, Jorgen and Suzuki, Ana Maria and Takahashi, Hazuki and Tilgner, Hagen and Trout, Diane and Walters, Nathalie and Wang, Huaien and Wrobel, John and Yu, Yanbao and Ruan, Xiaoan and Hayashizaki, Yoshihide and Harrow, Jennifer and Gerstein, Mark and Hubbard, Tim and Reymond, Alexandre and Antonarakis, Stylianos E and Hannon, Gregory and Giddings, Morgan C and Ruan, Yijun and Wold, Barbara and Carninci, Piero and Guig, Roderic and Gingeras, Thomas R
Nature, ISSN 0028-0836, 09/2012, Volume 489, Issue 7414, pp. 101 - 108
Eukaryotic cells make many types of primary and processed RNAs that are found either in specific subcellular compartments or throughout the cells. A complete... 
SMALL RNAS | MAPS | MULTIDISCIPLINARY SCIENCES | ENHANCERS | IDENTIFICATION | EXPRESSION | GENOME | Cell Line | Repetitive Sequences, Nucleic Acid - genetics | RNA Editing - genetics | Genomics | Humans | Molecular Sequence Annotation | Genes - genetics | Exons - genetics | Gene Expression Profiling | Transcriptome - genetics | DNA, Intergenic - genetics | Genome, Human - genetics | Regulatory Sequences, Nucleic Acid - genetics | Encyclopedias as Topic | RNA - genetics | DNA - genetics | RNA - biosynthesis | Polyadenylation - genetics | Sequence Analysis, RNA | Enhancer Elements, Genetic | RNA Splicing - genetics | Alleles | Transcription, Genetic - genetics | Protein Isoforms - genetics | Proteins | Gene expression | Genomes | Genètica | Genoma humà | Life Sciences
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
2. Full Text Tissue-Specific Effects of Genetic and Epigenetic Variation on Gene Regulation and Splicing
by Gutierrez-Arcelus, Maria and Ongen, Halit and Lappalainen, Tuuli and Montgomery, Stephen B and Buil, Alfonso and Yurovsky, Alisa and Bryois, Julien and Padioleau, Ismael and Romano, Luciana and Planchon, Alexandra and Falconnet, Emilie and Bielser, Deborah and Gagnebin, Maryline and Giger, Thomas and Borel, Christelle and Letourneau, Audrey and Makrythanasis, Periklis and Guipponi, Michel and Gehrig, Corinne and Antonarakis, Stylianos E and Dermitzakis, Emmanouil T
PLoS Genetics, ISSN 1553-7390, 2015, Volume 11, Issue 1, p. e1004958
Understanding how genetic variation affects distinct cellular phenotypes, such as gene expression levels, alternative splicing and DNA methylation levels, is... 
DNA METHYLATION | VARIANTS | DISEASE | GENETICS & HEREDITY | 5-HYDROXYMETHYLCYTOSINE | TRAITS | EXPRESSION | GENOME-WIDE ASSOCIATION | Promoter Regions, Genetic | Gene Expression Regulation - genetics | Alternative Splicing - genetics | Epigenesis, Genetic | Humans | DNA Methylation - genetics | Organ Specificity | Regulatory Sequences, Nucleic Acid - genetics | Genetic Variation | Alleles | CpG Islands | Polymorphism, Single Nucleotide - genetics | Infant, Newborn | Studies | Genomics | Deoxyribonucleic acid | DNA | DNA methylation | Epigenetics | Standard deviation | Genomes | Gene expression
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
3. Full Text Passive and active DNA methylation and the interplay with genetic variation in gene regulation
by Gutierrez-Arcelus, Maria and Lappalainen, Tuuli and Montgomery, Stephen B and Buil, Alfonso and Ongen, Halit and Yurovsky, Alisa and Bryois, Julien and Giger, Thomas and Romano, Luciana and Planchon, Alexandra and Falconnet, Emilie and Bielser, Deborah and Gagnebin, Maryline and Padioleau, Ismael and Borel, Christelle and Letourneau, Audrey and Makrythanasis, Periklis and Guipponi, Michel and Gehrig, Corinne and Antonarakis, Stylianos E and Dermitzakis, Emmanouil T
eLife, ISSN 2050-084X, 06/2013, Volume 2013, Issue 2, p. e00523
DNA methylation is an essential epigenetic mark whose role in gene regulation and its dependency on genomic sequence and environment are not fully understood.... 
POPULATION | HUMAN GENOME | CHROMATIN | EXPRESSION VARIATION | ANNOTATION | SEQUENCE | BIOLOGY | MECHANISMS | DIFFERENTIATION | BINDING | ENCODE | Genetic Variation | Transcription Factors - metabolism | DNA Methylation | Humans | Alleles | Cells, Cultured | Gene Expression Regulation | Polymerase Chain Reaction | Infant, Newborn | Transcription factors | Gene regulation | Genomes | Genetic diversity | Gene expression | Studies | Newborn babies | DNA methylation | Fibroblasts | Umbilical cord | Variation | Methylation | Binding sites | Deoxyribonucleic acid--DNA | DNA sequencing
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
4. Full Text Domains of genome-wide gene expression dysregulation in Down's syndrome
by Letourneau, Audrey and Santoni, Federico A and Bonilla, Ximena and Sailani, M. Reza and Gonzalez, David and Kind, Jop and Chevalier, Claire and Thurman, Robert and Sandstrom, Richard S and Hibaoui, Youssef and Garieri, Marco and Popadin, Konstantin and Falconnet, Emilie and Gagnebin, Maryline and Gehrig, Corinne and Vannier, Anne and Guipponi, Michel and Farinelli, Laurent and Robyr, Daniel and Migliavacca, Eugenia and Borel, Christelle and Deutsch, Samuel and Feki, Anis and Stamatoyannopoulos, John A and Herault, Yann and Van Steensel, Bas and Guigo, Roderic and Antonarakis, Stylianos E
Nature, ISSN 0028-0836, 2014, Volume 508, Issue 7496, pp. 345 - 350
Trisomy 21 is the most frequent genetic cause of cognitive impairment. To assess the perturbations of gene expression in trisomy 21, and to eliminate the noise... 
BIOTINYLATION | HMGN PROTEINS | CHROMATIN | MULTIDISCIPLINARY SCIENCES | MOUSE | NUCLEAR LAMINA INTERACTIONS | TRANSCRIPTIONAL CONTROL | IMBALANCE | MICE | MAMMALIAN-CELLS | PARTIAL TRISOMY | Chromatin - metabolism | Down Syndrome - pathology | Twins, Monozygotic - genetics | Chromosomes, Mammalian - genetics | Gene Expression Regulation - genetics | Histones - chemistry | Humans | Cells, Cultured | Genome - genetics | Male | Transcriptome - genetics | Chromosomes, Human, Pair 21 - genetics | Fetus - cytology | Animals | Down Syndrome - genetics | Fibroblasts | DNA Replication Timing | Female | Lysine - metabolism | Mice | Histones - metabolism | Methylation | Chromatin - chemistry | Induced Pluripotent Stem Cells - metabolism | Genetic research | Genetic aspects | Down syndrome | Research | Genetic regulation | Proteins | Studies | Cell culture | Hypotheses | Epigenetics | Genomes | Gene expression | Chromosomes | Experiments
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
5. Full Text Extensive cellular heterogeneity of X inactivation revealed by single-cell allele-specific expression in human fibroblasts
by Garieri, Marco and Stamoulis, Georgios and Blanc, Xavier and Falconnet, Emilie and Ribaux, Pascale and Borel, Christelle and Santoni, Federico and Antonarakis, Stylianos E
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 12/2018, Volume 115, Issue 51, pp. 13015 - 13020
X-chromosome inactivation (XCI) provides a dosage compensation mechanism where, in each female cell, one of the two X chromosomes is randomly silenced.... 
Single-cell transcriptomics | X inactivation | XIST | Cell heterogeneity | Cell cycle | IL1RAPL1 GENE | CYCLE REGULATION | DNA METHYLATION | cell cycle | LANDSCAPE | MULTIDISCIPLINARY SCIENCES | single-cell transcriptomics | cell heterogeneity | HYPOHIDROTIC ECTODERMAL DYSPLASIA | LINKED MENTAL-RETARDATION | CHROMOSOME INACTIVATION | MUTATION | GENE-EXPRESSION | EDA GENE | Fibroblasts | Genetic aspects | Gene expression | Observations | Enzymes | Dosage compensation | Deactivation | Genes | Biosynthesis | Genomes | Inactivation | Ribonucleic acid--RNA | Gene sequencing | Gene silencing | Heterogeneity | Mitochondria | Microscopy | X Chromosomes | Alleles | Chromosomes | Biological Sciences
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
6. Full Text Single cell transcriptome in aneuploidies reveals mechanisms of gene dosage imbalance
by Stamoulis, Georgios and Garieri, Marco and Makrythanasis, Periklis and Letourneau, Audrey and Guipponi, Michel and Panousis, Nikolaos and Sloan-Béna, Frédérique and Falconnet, Emilie and Ribaux, Pascale and Borel, Christelle and Santoni, Federico and Antonarakis, Stylianos E
Nature Communications, ISSN 2041-1723, 12/2019, Volume 10, Issue 1, pp. 1 - 11
Aneuploidy is a major source of gene dosage imbalance due to copy number alterations (CNA), and viable human trisomies are model disorders of altered gene... 
Gene dosage | Trisomy | Transcription | Copy number | Genes | Gene regulation | Phenotypic variations | Fibroblasts | Aneuploidy | Stochasticity | Gene expression | Dosage
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
7. Full Text Frequent cases of RAS-mutated Down syndrome acute lymphoblastic leukaemia lack JAK2 mutations
by Nikolaev, Sergey I and Garieri, Marco and Santoni, Federico and Falconnet, Emilie and Ribaux, Pascale and Guipponi, Michel and Murray, Aoife and Groet, Jürgen and Giarin, Emanuela and Basso, Giuseppe and Nizetic, Dean and Antonarakis, Stylianos E
Nature Communications, ISSN 2041-1723, 08/2014, Volume 5, Issue 1, p. 4654
Children with Down syndrome (DS) and acute lymphoblastic leukaemia (ALL) have poorer survival and more relapses than non-DS children with ALL, highlighting an... 
ACQUIRED MUTATIONS | REARRANGEMENT | LANDSCAPE | PATHWAY | MULTIDISCIPLINARY SCIENCES | DISORDERS | ACUTE MYELOID-LEUKEMIA | CANCER | CHILDHOOD | DELETIONS | CHILDREN | Down Syndrome - metabolism | Humans | Janus Kinase 2 - genetics | ras Proteins - metabolism | Male | Lymphocytes - cytology | Gene Expression Regulation, Leukemic | Precursor Cell Lymphoblastic Leukemia-Lymphoma - genetics | Precursor Cell Lymphoblastic Leukemia-Lymphoma - metabolism | DNA Mutational Analysis | Gene Deletion | Down Syndrome - genetics | Female | Mutation | Child | Receptors, Cytokine - genetics | Chromatin - chemistry
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
8. Detection of Imprinted Genes by Single-Cell Allele-Specific Gene Expression
by Federico A Santoni and Georgios Stamoulis and Marco Garieri and Emilie Falconnet and Pascale Ribaux and Christelle Borel and Stylianos E Antonarakis
American Journal of Human Genetics, ISSN 0002-9297, 03/2017, Volume 100, Issue 3, p. 444
  Genomic imprinting results in parental-specific gene expression. Imprinted genes are involved in the etiology of rare syndromes and have been associated with... 
Genes | Genomics | Binomial distribution | Ribonucleic acid--RNA | Cells
Journal Article
Details down arrow
9. Full Text HSA21 Single-minded 2 (SIM2) binding sites co-localize with super-enhancers and pioneer transcription factors in pluripotent mouse ES cells
by Letourneau, Audrey and Cobellis, Gilda and Fort, Alexandre and Santoni, Federico and Garieri, Marco and Falconnet, Emilie and Ribaux, Pascale and Vannier, Anne and Guipponi, Michel and Carninci, Piero and Borel, Christelle and Antonarakis, Stylianos E
PLoS ONE, ISSN 1932-6203, 05/2015, Volume 10, Issue 5, p. e0126475
The HSA21 encoded Single-minded 2 (SIM2) transcription factor has key neurological functions and is a good candidate to be involved in the cognitive impairment... 
Cells, Cultured | DNA - metabolism | Transcription Factors - genetics | Mouse Embryonic Stem Cells - metabolism | DNA - genetics | Transcription Factors - metabolism | Animals | Sequence Analysis, RNA | Basic Helix-Loop-Helix Transcription Factors - metabolism | Enhancer Elements, Genetic | Chromatin Immunoprecipitation - methods | Mice | Binding Sites | CNS MIDLINE | CHROMOSOME | PROTEIN | CHROMATIN-REMODELING COMPLEX | MULTIDISCIPLINARY SCIENCES | DOWN-SYNDROME | GENE-EXPRESSION | OTX2 | MUTATIONS | DROSOPHILA | MURINE HOMOLOG | Chemical properties | DNA binding proteins | Down syndrome | DNA-ligand interactions | Analysis | Genes | Transcription factors | Immunoprecipitation | Genomics | Oct-4 protein | Cognitive ability | Embryo cells | Stem cell transplantation | Nervous system | Genomes | Neurogenesis | Medical schools | Gene sequencing | Proteins | Allografts | KLF4 protein | Down's syndrome | Life sciences | Deoxyribonucleic acid--DNA | Nucleotide sequence | Mammals | Medicine | Enhancers | Hospitals | Insects | Stem cells | Epigenetics | Mutation | Pluripotency | Binding sites | DNA sequencing | Deoxyribonucleic acid | DNA
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
10. Full Text Extrachromosomal driver mutations in glioblastoma and low-grade glioma
by Nikolaev, Sergey and Santoni, Federico and Garieri, Marco and Makrythanasis, Periklis and Falconnet, Emilie and Guipponi, Michel and Vannier, Anne and Radovanovic, Ivan and Bena, Frederique and Forestier, Françoise and Schaller, Karl and Dutoit, Valerie and Clement-Schatlo, Virginie and Dietrich, Pierre-Yves and Antonarakis, Stylianos E
Nature Communications, ISSN 2041-1723, 2014, Volume 5, Issue 1, p. 5690
Alteration of the number of copies of double minutes (DMs) with oncogenic EGFR mutations in response to tyrosine kinase inhibitors is a novel adaptive... 
PDGFRA AMPLIFICATION | CANCERS | MULTIDISCIPLINARY SCIENCES | GROWTH | RESISTANCE | GENE AMPLIFICATION | MECHANISMS | CELL-LINES | DOUBLE-MINUTE CHROMOSOMES | EGFR | MUTATOR PHENOTYPE | Glioma - genetics | Genomic Instability | Gene Amplification | Neoplasm Grading | Glioblastoma - genetics | Glioma - pathology | Humans | Brain Neoplasms - pathology | Brain Neoplasms - genetics | DNA, Circular - genetics | Mutation
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
11. Full Text Cardiomyogenesis is controlled by the miR-99a/let-7c cluster and epigenetic modifications
by Coppola, Antonietta and Romito, Antonio and Borel, Christelle and Gehrig, Corinne and Gagnebin, Maryline and Falconnet, Emilie and Izzo, Antonella and Altucci, Lucia and Banfi, Sandro and Antonarakis, Stylianos E and Minchiotti, Gabriella and Cobellis, Gilda
Stem Cell Research, ISSN 1873-5061, 03/2014, Volume 12, Issue 2, pp. 323 - 337
Understanding the molecular basis of cardiomyocyte development is critical for understanding the pathogenesis of pre- and post-natal cardiac disease. MicroRNAs... 
EARLY MOUSE DEVELOPMENT | DICER | CANCER | CELL & TISSUE ENGINEERING | CELL BIOLOGY | BIOTECHNOLOGY & APPLIED MICROBIOLOGY | EMBRYONIC STEM-CELLS | GENE-EXPRESSION | DIFFERENTIATION | ISWI | REPRESSIVE COMPLEX 2 | MICRORNA | EZH2 | Embryonic Stem Cells - metabolism | Embryonic Stem Cells - cytology | Myocytes, Cardiac - cytology | Signal Transduction | Epigenesis, Genetic | Humans | Embryonic Stem Cells - physiology | Cell Differentiation - genetics | Animals | Transfection | Myocytes, Cardiac - physiology | Myocytes, Cardiac - metabolism | Mice | MicroRNAs - genetics
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
12. Full Text Biased Allelic Expression in Human Primary Fibroblast Single Cells
by Borel, Christelle and Ferreira, Pedro G and Santoni, Federico and Delaneau, Olivier and Fort, Alexandre and Popadin, Konstantin Y and Garieri, Marco and Falconnet, Emilie and Ribaux, Pascale and Guipponi, Michel and Padioleau, Ismael and Carninci, Piero and Dermitzakis, Emmanouil T and Antonarakis, Stylianos E
The American Journal of Human Genetics, ISSN 0002-9297, 01/2015, Volume 96, Issue 1, pp. 70 - 80
The study of gene expression in mammalian single cells via genomic technologies now provides the possibility to investigate the patterns of allelic gene... 
MONOALLELIC EXPRESSION | INACTIVATION | X-CHROMOSOME | IN-VIVO | TRANSCRIPTION | MOUSE | GENETICS & HEREDITY | GENE-EXPRESSION | DYNAMICS | MAMMALIAN-CELLS | GENOME | Haplotypes | Humans | RNA, Messenger - genetics | DNA, Complementary - genetics | RNA, Messenger - metabolism | Phenotype | Sequence Analysis, RNA | Alleles | Heterozygote | Fibroblasts - cytology | Genome, Human | Single-Cell Analysis | DNA, Complementary - metabolism | Allelomorphism | Cell research | Fibroblasts | Genetic research | Genetic aspects | Research | Gene expression | Health aspects
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights