A
Alain Aurias
Researcher at French Institute of Health and Medical Research
Publications - 183
Citations - 19307
Alain Aurias is an academic researcher from French Institute of Health and Medical Research. The author has contributed to research in topics: Chromosomal translocation & Comparative genomic hybridization. The author has an hindex of 38, co-authored 183 publications receiving 18356 citations. Previous affiliations of Alain Aurias include Curie Institute & Centre national de la recherche scientifique.
Papers
More filters
Journal ArticleDOI
LMO2-associated clonal T cell proliferation in two patients after gene therapy for SCID-X1.
Salima Hacein-Bey-Abina,C von Kalle,C von Kalle,Manfred Schmidt,Matthew P. McCormack,NM Wulffraat,Philippe Leboulch,Annick Lim,Cameron S. Osborne,R. Pawliuk,Estelle Morillon,R. Sorensen,A. Forster,Peter Fraser,Jeffrey I. Cohen,G de Saint Basile,Ian E. Alexander,Uwe Wintergerst,Thierry Frebourg,Alain Aurias,Dominique Stoppa-Lyonnet,Serge Romana,I. Radford-Weiss,Fabian Gross,Françoise Valensi,Eric Delabesse,Elizabeth Macintyre,F. Sigaux,Jean Soulier,L. E. Leiva,Manuela Wissler,Claudia Prinz,Terence H. Rabbitts,F. Le Deist,Alain Fischer,Marina Cavazzana-Calvo +35 more
TL;DR: Retrovirus vector insertion can trigger deregulated premalignant cell proliferation with unexpected frequency, most likely driven by retrovirus enhancer activity on the LMO2 gene promoter.
Journal ArticleDOI
Gene fusion with an ETS DNA-binding domain caused by chromosome translocation in human tumours
Olivier Delattre,Jessica Zucman,Béatrice Plougastel,Chantal Desmaze,Thomas Melot,Martine Peter,Heinrich Kovar,Isabelle Joubert,Pieter J. de Jong,Guy A. Rouleau,Alain Aurias,Gilles Thomas +11 more
TL;DR: Phylogenetically conserved restriction fragments in the vicinity of EWSR1 and EWSR2, the genomic regions where the breakpoints of chromosome 22 and chromosome 11 are, respectively, have allowed identification of transcribed sequences from these regions and has indicated that a hybrid transcript might be generated by the translocation.
Journal ArticleDOI
Truncating Mutations of hSNF5/INI1 in Aggressive Paediatric Cancer
Isabella Versteege,Nicolas Sevenet,Julian Lange,Marie-Françoise Rousseau-Merck,Peter F. Ambros,Rupert Handgretinger,Alain Aurias,Olivier Delattre +7 more
TL;DR: The observation of bi-allelic alterations of hSNF5/INI1 in MRTs suggests that loss-of-function mutations of h snf5/inI1 contribute to oncogenesis, and the most frequently deleted part of chromosome 22q11.2 is mapped.
Journal ArticleDOI
Alteration in a new gene encoding a putative membrane-organizing protein causes neuro-fibromatosis type 2
Guy A. Rouleau,P. Merel,Mohini Lutchman,Marc Sanson,Marc Sanson,Jessica Zucman,Claude Marineau,Khê Hoang-Xuan,S. Demczuk,Chantal Desmaze,Béatrice Plougastel,Stefan M. Pulst,Gilbert M. Lenoir,E. K. Bijlsma,Raimund Fashold,Jan P. Dumanski,Pieter J. de Jong,Dilys M. Parry,Roswell Eldrige,Alain Aurias,Olivier Delattre,Gilles Thomas +21 more
TL;DR: The deduced product has homology with proteins at the plasma membrane and cytoskeleton Interface, a previously unknown site of action of tumour suppressor genes in humans.
Journal ArticleDOI
Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study.
A K Ryan,Judith A. Goodship,D I Wilson,Nicole Philip,A. Levy,H Seidel,S Schuffenhauer,H Oechsler,B Belohradsky,M Prieur,Alain Aurias,F L Raymond,Jill Clayton-Smith,E Hatchwell,C McKeown,Frits A. Beemer,Bruno Dallapiccola,Giuseppe Novelli,Jane A. Hurst,J Ignatius,A J Green,Robin M. Winter,Louise Brueton,Karen Brøndum-Nielsen,Peter J. Scambler +24 more
TL;DR: The majority of patients were constitutionally small, with 36% of patients below the 3rd centile for either height or weight parameters, and the majority of surviving patients were developmentally normal or had only mild learning problems.