S
Stylianos E. Antonarakis
Researcher at University of Geneva
Publications - 758
Citations - 99393
Stylianos E. Antonarakis is an academic researcher from University of Geneva. The author has contributed to research in topics: Gene & Chromosome 21. The author has an hindex of 138, co-authored 746 publications receiving 93605 citations. Previous affiliations of Stylianos E. Antonarakis include Northwestern University & Gujarat University.
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Direct characterization of factor VIII in plasma: detection of a mutation altering a thrombin cleavage site (arginine-372----histidine).
Morio Arai,Hiroshi Inaba,Miyoko Higuchi,Stylianos E. Antonarakis,H H Kazazian,M Fujimaki,Leon W. Hoyer +6 more
TL;DR: The genetic defect was determined by polymerase-chain-reaction amplification of exon 8 of the factor VIII gene and direct sequencing of the amplified product and a single-base substitution was identified that produces an arginine to histidine substitution at amino acid residue 372.
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In vitro whole-genome analysis identifies a susceptibility locus for HIV-1.
Corinne Loeuillet,Samuel Deutsch,Angela Ciuffi,Daniel Robyr,Patrick Taffé,Miguel Munoz,Jacques S. Beckmann,Stylianos E. Antonarakis,Amalio Telenti +8 more
TL;DR: An in vitro system is used for the identification of a locus on HSA8q24.3 associated with cellular susceptibility to HIV-1 and a role of the rs2572886 region in the regulation of the LY6 family of glycosyl-phosphatidyl-inositol (GPI)-anchored proteins is suggested.
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Cloning of a novel human neural cell adhesion molecule gene (NCAM2) that maps to chromosome region 21q21 and is potentially involved in Down syndrome.
TL;DR: The NCAM2 gene is a good candidate for involvement in certain Down syndrome phenotypes because a slight overexpression of NCAMs increases many-fold the homotypic adhesion properties of cells.
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Cloning of a human homolog of the Drosophila enhancer of zeste gene (EZH2) that maps to chromosome 21q22.2
TL;DR: The strong sequence conservation suggests a possible function of EZH2 in regulation of gene transcription and chromatin structure; it may therefore contribute to certain phenotypes of Down syndrome by altered regulation of its target genes.
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Extrachromosomal driver mutations in glioblastoma and low-grade glioma
Sergey Nikolaev,Federico Santoni,Federico Santoni,Marco Garieri,Periklis Makrythanasis,Periklis Makrythanasis,Emilie Falconnet,Michel Guipponi,Anne Vannier,Ivan Radovanovic,Ivan Radovanovic,Frédérique Béna,Françoise Forestier,Karl Lothard Schaller,Karl Lothard Schaller,Valérie Dutoit,Virginie Clément-Schatlo,Virginie Clément-Schatlo,Pierre-Yves Dietrich,Stylianos E. Antonarakis,Stylianos E. Antonarakis +20 more
TL;DR: Evidence is provided that mutations in DMs, called here Amplification-Linked Extrachromosomal Mutations (ALEMs), originate extrachromOSomally and could therefore be completely eliminated from the cancer cells.