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 TitleAuthors / EditorsDate
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Transcriptional and post-transcriptional profile of human chromosome 21 Nikolaev, Sergey Igorievich; Deutsch Escalante, Samuel; Genolet, Raphaël; Borel, Christelle; ... Antonarakis, Stylianos 2009
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Tissue-specific effects of genetic and epigenetic variation on gene regulation and splicing Gutierrez Arcelus, Maria; Ongen, Halit; Lappalainen, Tuuli Emilia; Montgomery, Stephen; ... Dermitzakis, Emmanouil 2015
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Three common polymorphisms in the CYBA gene form a haplotype associated with decreased ROS generation Bedard, Karen; Attar Cohen, Homa; Bonnefont, Jérôme; Jaquet, Vincent; ... Krause, Karl-Heinz 2009
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The genomic landscape of human cellular circadian variation points to a novel role for the signalosome Gaspar, Ludmila; Howald, Cédric; Popadin, Konstantin; Maier, Bert; ... Brown, Steven A 2017
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The complex SNP and CNV genetic architecture of the increased risk of congenital heart defects in Down syndrome Sailani, Mohammad Reza; Makrythanasis, Periklis; Valsesia, Armand; Santoni, Federico; ... Antonarakis, Stylianos 2013
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Tandem repeat sequence variation as causative cis-eQTLs for protein-coding gene expression variation: the case of CSTB. Borel, Christelle; Migliavacca Voeffray, Eugenia Linda; Letourneau, Audrey; Gagnebin, Maryline; ... Antonarakis, Stylianos 2012
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Systematic proteome and proteostasis profiling in human Trisomy 21 fibroblast cells Liu, Yansheng; Borel, Christelle; Li, Li; Müller, Torsten; ... Aebersold, Ruedi 2017
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Synaptojanin 1-linked phosphoinositide dyshomeostasis and cognitive deficits in mouse models of Down's syndrome Voronov, S. V.; Frere, S. G.; Giovedi, Silvia; Pollina, E. A.; ... Di Paolo, Gilbert 2008
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Structure and function of the human genome Borel, Christelle 2016
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SPINK2 deficiency causes infertility by inducing sperm defects in heterozygotes and azoospermia in homozygotes Kherraf, Zine-Eddine; Christou-Kent, Marie; Karaouzene, Thomas; Amiri-Yekta, Amir; ... Arnoult, Christophe 2017
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Research resource: the dynamic transcriptional profile of sertoli cells during the progression of spermatogenesis Zimmermann, Céline; Stevant, Isabelle; Borel, Christelle; Conne, Béatrice; ... Nef, Serge 2015
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Regulation of fibrinogen production by microRNAs Fort, Alexandre; Borel, Christelle; Migliavacca, Eugenia; Antonarakis, Stylianos; ... Neerman Arbez, Marguerite 2010
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Peutz-Jeghers LKB1 mutants fail to activate GSK-3beta, preventing it from inhibiting Wnt signaling Lin-Marq, Nathalie; Borel, Christelle; Antonarakis, Stylianos 2005
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Passive and active DNA methylation and the interplay with genetic variation in gene regulation Gutierrez Arcelus, Maria; Lappalainen, Tuuli Emilia; Montgomery, Stephen; Buil Demur, Alfonso Alberto; ... Dermitzakis, Emmanouil 2013
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Opposite phenotypes of muscle strength and locomotor function in mouse models of partial trisomy and monosomy 21 for the proximal Hspa13-App region Brault, Véronique; Duchon, Arnaud; Romestaing, Caroline; Sahun, Ignasi; ... Herault, Yann 2015
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New class of gene-termini-associated human RNAs suggests a novel RNA copying mechanism Kapranov, Philipp; Ozsolak, Fatih; Kim, Sang Woo; Foissac, Sylvain; ... Milos, Patrice M. 2010
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Mapping of small RNAs in the human ENCODE regions Borel, Christelle; Gagnebin, Maryline; Gehrig, Corinne; Kriventseva, Evgenia; ... Antonarakis, Stylianos 2008
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Loss of Function Mutation in the Palmitoyl-Transferase HHAT Leads to Syndromic 46,XY Disorder of Sex Development by Impeding Hedgehog Protein Palmitoylation and Signaling Callier, Patrick; Calvel, Pierre; Matevossian, Armine; Makrythanasis, Periklis; ... Nef, Serge 2014
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Identification of cis- and trans-regulatory variation modulating microRNA expression levels in human fibroblasts Borel, Christelle; Deutsch Escalante, Samuel; Letourneau, Audrey; Migliavacca Voeffray, Eugenia Linda; ... Antonarakis, Stylianos 2011
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Human microRNA-155 on chromosome 21 differentially interacts with its polymorphic target in the AGTR1 3' untranslated region: a mechanism for functional single-nucleotide polymorphisms related to phenotypes Sethupathy, Praveen; Borel, Christelle; Gagnebin, Maryline; Grant, G. R.; ... Antonarakis, Stylianos 2007
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HSA21 Single-Minded 2 (Sim2) Binding Sites Co-Localize with Super-Enhancers and Pioneer Transcription Factors in Pluripotent Mouse ES Cells Letourneau, Audrey; Cobellis, Gilda; Fort, Alexandre; Santoni, Federico; ... Antonarakis, Stylianos 2015
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HIV-1 Nef protein binds to the cellular protein PACS-1 to downregulate class I major histocompatibility complexes Piguet, Vincent; Wan, L; Borel, Christelle; Mangasarian, Aram; ... Trono, Didier 2000
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Germ cell-specific targeting of DICER or DGCR8 reveals a novel role for endo-siRNAs in the progression of mammalian spermatogenesis and male fertility Zimmermann, Céline; Romero, Yannick; Warnefors, Maria; Bilican, Adem; ... Nef, Serge 2014
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Genetic structure of Europeans: a view from the North-East Nelis, Mari; Esko, Tonu; Antonarakis, Stylianos; Borel, Christelle; Gagnebin, Maryline 2009
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Genetic characterization of northeastern Italian population isolates in the context of broader European genetic diversity Esko, Tõnu; Mezzavilla, Massimo; Nelis, Mari; Borel, Christelle; Antonarakis, Stylianos 2013
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Functional genetic variation of human miRNAs and phenotypic consequences Borel, Christelle; Antonarakis, Stylianos 2008
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Extensive natural variation for cellular hydrogen peroxide release is genetically controlled Attar Cohen, Homa; Bedard, Karen; Migliavacca Voeffray, Eugenia Linda; Gagnebin, Maryline; ... Antonarakis, Stylianos 2012
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Evaluation of PRDM9 variation as a risk factor for recurrent genomic disorders and chromosomal non-disjunction Borel, Christelle; Cheung, Fanny; Stewart, Helen; Koolen, David A; ... Sharp, Andrew J 2012
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DYRK1A-dosage imbalance perturbs NRSF/REST levels, deregulating pluripotency and embryonic stem cell fate in Down syndrome Canzonetta, Claudia; Mulligan, Claire; Deutsch, Samuel; Ruf, Sandra; ... Nizetic, Dean 2008
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Domains of genome-wide gene expression dysregulation in Down's syndrome Letourneau, Audrey; Santoni, Federico; Bonilla Bustillo, Ximena; Sailani, Mohammad Reza; ... Antonarakis, Stylianos 2014
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DNA-Methylation Patterns in Trisomy 21 Using Cells from Monozygotic Twins Sailani, Mohammad Reza; Santoni, Federico; Letourneau, Audrey; Borel, Christelle; ... Antonarakis, Stylianos 2015
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Different mechanisms preclude mutant CLDN14 proteins from forming tight junctions in vitro Wattenhofer, Marie; Reymond, Alexandre; Falciola, Veronique; Charollais, Anne; ... Antonarakis, Stylianos 2005
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Deciphering Cell Lineage Specification during Male Sex Determination with Single-Cell RNA Sequencing Stevant, Isabelle; Neirijnck, Yasmine; Borel, Christelle; Escoffier Breancon, Jessica; ... Nef, Serge 2018
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Common regulatory variation impacts gene expression in a cell type-dependent manner Dimas, Antigone S.; Deutsch, Samuel; Stranger, Barbara E.; Montgomery, Stephen; ... Antonarakis, Stylianos 2009
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Cardiomyogenesis is controlled by the miR-99a/let-7c cluster and epigenetic modifications Coppola, Antonietta; Romito, Antonio; Borel, Christelle; Gehrig, Corinne; ... Cobellis, Gilda 2013
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Biased allelic expression in human primary fibroblast single cells Borel, Christelle; Ferreira Marinheiro, Pedro; Santoni, Federico; Delaneau, Olivier; ... Antonarakis, Stylianos 2015
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ARF1 regulates Nef-induced CD4 degradation Faure, Julien; Stalder Monney, Romaine; Borel, Christelle; Sobo, Komla; ... Trono, Didier 2004
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A mouse embryonic stem cell bank for inducible overexpression of human chromosome 21 genes De Cegli, Rossella; Romito, Antonio; Iacobacci, Simona; Mao, Lei; ... Cobellis, G. 2010
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A Case of Wiedemann-Steiner Syndrome Associated with a 46,XY Disorder of Sexual Development and Gonadal Dysgenesis Calvel, Pierre; Kusz-Zamelczyk, Kamila; Makrythanasis, Periklis; Janecki, Damian; ... Jaruzelska, Jadwiga 2015