O
Ozden Sanal
Researcher at Hacettepe University
Publications - 187
Citations - 15270
Ozden Sanal is an academic researcher from Hacettepe University. The author has contributed to research in topics: Immunodeficiency & Primary immunodeficiency. The author has an hindex of 46, co-authored 186 publications receiving 14237 citations. Previous affiliations of Ozden Sanal include Boston Children's Hospital.
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Journal ArticleDOI
A single ataxia telangiectasia gene with a product similar to pi-3 kinase
Kinneret Savitsky,Anat Bar-Shira,Shlomit Gilad,Galit Rotman,Yael Ziv,Lina Vanagaite,Danilo A. Tagle,Sara Smith,Tamar Uziel,Sharon Sfez,Maya Ashkenazi,Iris Pecker,Moshe Frydman,Reli Harnik,Sankhavaram R. Patanjali,Andrew D. Simmons,Gregory A. Clines,Adam Sartiel,Richard A. Gatti,Luciana Chessa,Ozden Sanal,Martin F. Lavin,Nicolaas G. J. Jaspers,A. Malcolm R. Taylor,Colin F. Arlett,Toru Miki,Sherman M. Weissman,Michael Lovett,Francis S. Collins,Yosef Shiloh +29 more
TL;DR: A gene, ATM, that is mutated in the autosomal recessive disorder ataxia telangiectasia was identified by positional cloning on chromosome 11q22-23 and encoded a putative protein that is similar to several yeast and mammalian phosphatidylinositol-3' kinases that are involved in mitogenic signal transduction, meiotic recombination, and cell cycle control.
Journal ArticleDOI
Activation-induced cytidine deaminase (AID) deficiency causes the autosomal recessive form of the Hyper-IgM syndrome (HIGM2).
Patrick Revy,Taro Muto,Yves Levy,Frederic Geissmann,Alessandro Plebani,Ozden Sanal,Nadia Catalan,Monique Forveille,Dufourcq-Lagelouse R,Andrew R. Gennery,Ilhan Tezcan,Fügen Ersoy,Hülya Kayserili,Alberto G. Ugazio,Nicole Brousse,Masamichi Muramatsu,Luigi D. Notarangelo,Kazuo Kinoshita,Tasuku Honjo,Alain Fischer,Anne Durandy +20 more
TL;DR: The phenotype observed in HIGM2 patients (and in AID-/- mice) demonstrates the absolute requirement for AID in several crucial steps of B cell terminal differentiation necessary for efficient antibody responses.
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Artemis, a Novel DNA Double-Strand Break Repair/V(D)J Recombination Protein, Is Mutated in Human Severe Combined Immune Deficiency
Despina Moshous,Isabelle Callebaut,Régina de Chasseval,Barbara Corneo,Marina Cavazzana-Calvo,Françoise Le Deist,Ilhan Tezcan,Ozden Sanal,Yves Bertrand,N Philippe,Alain Fischer,Jean-Pierre de Villartay +11 more
TL;DR: The cloning of the gene encoding a novel protein involved in V(D)J recombination/DNA repair, Artemis, whose mutations cause human RS-SCID is described.
Journal ArticleDOI
Cernunnos, a novel nonhomologous end-joining factor, is mutated in human immunodeficiency with microcephaly.
Dietke Buck,Laurent Malivert,Régina de Chasseval,Anne Barraud,Marie-Claude Fondanèche,Ozden Sanal,Alessandro Plebani,Jean-Louis Stephan,Markus Hufnagel,Françoise Le Deist,Alain Fischer,Anne Durandy,Jean-Pierre de Villartay,Patrick Revy +13 more
TL;DR: Five patients with growth retardation, microcephaly, and immunodeficiency characterized by a profound T+B lymphocytopenia are described and Cernunnos/XLF represents a novel DNA repair factor essential for the NHEJ pathway.
Journal ArticleDOI
Clinical spectrum of X-linked hyper-IgM syndrome
Jacov Levy,Teresa Espanol-Boren,Carolin Thomas,Alain Fischer,Pier-Angelo Tovo,Pierre Bordigoni,Igor B. Resnick,Anders Fasth,Maija Baer,Lina Gomez,E.A.M. Sanders,Marie-Dominique Tabone,Dominique Plantaz,Amos Etzioni,V. Monafo,Mario Abinun,Lennart Hammarström,Tore G. Abrahamsen,Allison Jones,Adam Finn,Timo Klemola,Esther DeVries,Ozden Sanal,Manuel C. Peitsch,Luigi D. Notarangelo +24 more
TL;DR: Although lymphocyte counts and in vitro proliferation to mitogens were normal, a defective in vitro proliferative response to antigens was observed in some patients, and additional defects of cell-mediated immunity may be presumed on the basis of current knowledge of CD40-ligand function.