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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Cell-type-specific and hypoxia-inducible expression of the human erythropoietin gene in transgenic mice.
TL;DR: These studies demonstrate that multiple erythropoietin gene regulatory elements control cell-type-specific expression and inducibility by a fundamental physiologic stimulus, hypoxia.
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DNA polymorphism and molecular pathology of the human globin gene clusters
TL;DR: This study has provided important insights into normal gene structure and function and the nature of molecular defects leading to a set of inherited diseases and forms the basis for rational design of specific tests for prenatal diagnosis of particular forms of β-gene cluster.
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The autoimmune regulator protein has transcriptional transactivating properties and interacts with the common coactivator CREB-binding protein.
Jukka Pitkänen,Vassilis Doucas,Thomas Sternsdorf,Toshihiro Nakajima,Satoko Aratani,Kirsten Jensen,Hans Will,Perttu Vähämurto,Juha Ollila,Mauno Vihinen,Hamish S. Scott,Stylianos E. Antonarakis,Jun Kudoh,Nobuyoshi Shimizu,Kai Krohn,Pärt Peterson +15 more
TL;DR: It is suggested that the transcriptional transactivation properties of AIRE together with its interaction with CBP might be important in its function as disease-causing mutations almost totally abolish the activation effect.
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A combined analysis of D22S278 marker alleles in affected sib-pairs: Support for a susceptibility locus for schizophrenia at chromosome 22q12
Michael Gill,Homero Vallada,David A. Collier,Pak C. Sham,Peter Holmans,Robin M. Murray,Peter McGuffin,Shinichiro Nanko,Michael John Owen,Stylianos E. Antonarakis,David E. Housman,Haig H. Kazazian,Gerald Nestadt,A. E. Pulver,Richard E. Straub,C J MacLean,Dermot Walsh,Kenneth S. Kendler,Lynn E. DeLisi,Mihael H. Polymeropoulos,Hilary Coon,William Byerley,R. Lofthouse,Elliot S. Gershon,C. M. Read +24 more
TL;DR: A combined analysis of genotypic data from the marker D22S278 in multiply affected schizophrenic families derived from 11 independent research groups worldwide indicates that may be a susceptibility locus for schizophrenia at 22q12.
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Insertion of β-satellite repeats identifies a transmembrane protease causing both congenital and childhood onset autosomal recessive deafness
Hamish S. Scott,Hamish S. Scott,Jun Kudoh,Marie Wattenhofer,Kazunori Shibuya,Asher Berry,Roman Chrast,Michel Guipponi,Jun Wang,Kazuhiko Kawasaki,Shuichi Asakawa,Shinsei Minoshima,Farah Younus,S. Qasim Mehdi,Uppala Radhakrishna,Marie Pierre Papasavvas,Corinne Gehrig,Colette Rossier,Michael Korostishevsky,Andreas Gal,Nobuyoshi Shimizu,Batsheva Bonne-Tamir,Stylianos E. Antonarakis +22 more
TL;DR: A new transmembrane serine protease expressed in many tissues, including fetal cochlea, which is mutated in the families used to describe both the DFNB10 and DFNB8 loci is reported, and is the first description of β-satellite insertion into an active gene resulting in a pathogenic state.