J
J. Grosgeorge
Researcher at Centre national de la recherche scientifique
Publications - 28
Citations - 3631
J. Grosgeorge is an academic researcher from Centre national de la recherche scientifique. The author has contributed to research in topics: Gene & Gene mapping. The author has an hindex of 17, co-authored 28 publications receiving 3488 citations. Previous affiliations of J. Grosgeorge include University of Nice Sophia Antipolis.
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Journal ArticleDOI
Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy.
Cécile Delettre,Guy Lenaers,Jean-Michel Griffoin,Nadine Gigarel,Corinne Lorenzo,Pascale Belenguer,Laetitia Pelloquin,J. Grosgeorge,Claude Turc-Carel,Eric Perret,Catherine Astarie-Dequeker,Laetitia Lasquellec,B. Arnaud,Bernard Ducommun,Josseline Kaplan,Christian P. Hamel +15 more
TL;DR: A nuclear gene, OPA1, is described here a nuclear gene that maps within the candidate region and encodes a dynamin-related protein localized to mitochondria, demonstrating a role for mitochondria in retinal ganglion cell pathophysiology.
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Fusion of TEL, the ETS-Variant Gene 6 (ETV6), to the Receptor-Associated Kinase JAK2 as a Result of t(9; 12) in a Lymphoid and t(9; 15; 12) in a Myeloid Leukemia
Pieter J. Peeters,Sophie Raynaud,Jan Cools,Iwona Wlodarska,J. Grosgeorge,Patrick Philip,Fabrice Monpoux,Luc Van Rompaey,Mathijs Baens,Herman Van den Berghe,Peter Marynen +10 more
TL;DR: JAK2 plays a central role in non-protein tyrosine kinase receptor signaling pathways, which could explain its involvement in malignancies of different hematologic lineages and in Drosophila no member of the JAK family has yet been implicated in tumorigenesis.
Journal ArticleDOI
Deregulation of the platelet-derived growth factor B-chain gene via fusion with collagen gene COL1A1 in dermatofibrosarcoma protuberans and giant-cell fibroblastoma
Marie Pierre Simon,Florence Pedeutour,Nicolas Sirvent,J. Grosgeorge,Fabiola Minoletti,Jean Michel Coindre,Marie José Terrier-Lacombe,Nils Mandahl,Randall D. Craver,Nikolaus Blin,Gabriella Sozzi,Claude Turc-Carel,Kevin O'Brien,Darek Kedra,Ingegerd Fransson,Cecile Guilbaud,Jan P. Dumanski +16 more
TL;DR: The breakpoints from translocations and rings in DP and its juvenile form, giant cell fibroblastoma (GCF) were characterised on the genomic and RNA level and deleted exon 1 of PDGFB and release this growth factor from its normal regulation.
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The 12;21 translocation involving TEL and deletion of the other TEL allele: two frequently associated alterations found in childhood acute lymphoblastic leukemia.
Sophie Raynaud,Hélène Cavé,Mathijs Baens,Christian Bastard,Valère Cacheux,J. Grosgeorge,Christine Guidal-Giroux,C Guo,Etienne Vilmer,Peter Marynen,Bernard Grandchamp +10 more
TL;DR: The results indicate that the association between the t(12;21) and the deletion of the nontranslocated allele of TEL is among the most frequent abnormalities observed in B-lineage ALLs, and TEL as the actual target of 12p12-13 deletions in patients that associate a t( 12; 21) with a deletion.
Journal ArticleDOI
The gene encoding the mouse homologue of the human osteoclast-specific 116-kDa V-ATPase subunit bears a deletion in osteosclerotic (oc/oc) mutants.
Jean-Claude Scimeca,Arlette Franchi,Christophe Trojani,H Parrinello,J. Grosgeorge,C Robert,O Jaillon,C. Poirier,Patrick Gaudray,Georges F. Carle +9 more
TL;DR: Genetic mapping of the oc mutation was used as a backbone in a positional cloning approach in the pericentromeric region of mouse chromosome 19, and perfect cosegregation of the osteopetrotic phenotype with polymorphic markers enabled the construction of a sequence-ready bacterial artificial chromosome (BAC) contig of this region.