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203. Anaplastic oligodendrogliomas with 1p19q codeletion have a proneural gene expression profile

Author

Ducray, François, primary, Idbaih, Ahmed, additional, de Reyniès, Aurélien, additional, Bièche, Ivan, additional, Thillet, Joëlle, additional, Mokhtari, Karima, additional, Lair, Séverine, additional, Marie, Yannick, additional, Paris, Sophie, additional, Vidaud, Michel, additional, Hoang-Xuan, Khê, additional, Delattre, Olivier, additional, Delattre, Jean-Yves, additional, and Sanson, Marc, additional

Published
2008
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205. Microarray-Based Identification of Tenascin C and Tenascin XB, Genes Possibly Involved in Tumorigenesis Associated with Neurofibromatosis Type 1

Author

Lévy, Pascale, primary, Ripoche, Hugues, additional, Laurendeau, Ingrid, additional, Lazar, Vladimir, additional, Ortonne, Nicolas, additional, Parfait, Béatrice, additional, Leroy, Karen, additional, Wechsler, Janine, additional, Salmon, Isabelle, additional, Wolkenstein, Pierre, additional, Dessen, Philippe, additional, Vidaud, Michel, additional, Vidaud, Dominique, additional, and Bièche, Ivan, additional

Published
2007
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206. Neurofibromatosis type 1 molecular diagnosis: what can NGS do for you when you have a large gene with loss of function mutations?

Author

Pasmant, Eric, Parfait, Béatrice, Luscan, Armelle, Goussard, Philippe, Briand-Suleau, Audrey, Laurendeau, Ingrid, Fouveaut, Corinne, Leroy, Chrystel, Montadert, Annelore, Wolkenstein, Pierre, Vidaud, Michel, and Vidaud, Dominique

Subjects
MOLECULAR diagnosis, NEUROFIBROMATOSIS 1, TUMOR suppressor genes, SOMATIC mutation, HUMAN genetics, DIAGNOSIS
Abstract

Molecular diagnosis of neurofibromatosis type 1 (NF1) is challenging owing to the large size of the tumour suppressor gene NF1, and the lack of mutation hotspots. A somatic alteration of the wild-type NF1 allele is observed in NF1-associated tumours. Genetic heterogeneity in NF1 was confirmed in patients with SPRED1 mutations. Here, we present a targeted next-generation sequencing (NGS) of NF1 and SPRED1 using a multiplex PCR approach (230 amplicons of ∼150 bp) on a PGM sequencer. The chip capacity allowed mixing 48 bar-coded samples in a 4-day workflow. We validated the NGS approach by retrospectively testing 30 NF1-mutated samples, and then prospectively analysed 279 patients in routine diagnosis. On average, 98.5% of all targeted bases were covered by at least 20X and 96% by at least 100X. An NF1 or SPRED1 alteration was found in 246/279 (88%) and 10/279 (4%) patients, respectively. Genotyping throughput was increased over 10 times, as compared with Sanger, with ∼90[euro ] for consumables per sample. Interestingly, our targeted NGS approach also provided quantitative information based on sequencing depth allowing identification of multiexons deletion or duplication. We then addressed the NF1 somatic mutation detection sensitivity in mosaic NF1 patients and tumours. [ABSTRACT FROM AUTHOR]

Published
2015
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207. NF1 single and multi-exons copy number variations in neurofibromatosis type 1.

Author

Imbard, Apolline, Pasmant, Eric, Sabbagh, Audrey, Luscan, Armelle, Soares, Magali, Goussard, Philippe, Blanché, Hélène, Laurendeau, Ingrid, Ferkal, Salah, Vidaud, Michel, Pinson, Stéphane, Bellanne-Chantelot, Christine, Vidaud, Dominique, Wolkenstein, Pierre, and Parfait, Béatrice

Subjects
NEUROFIBROMATOSIS, NEUROFIBROMATOSIS 1, TUMOR suppressor proteins, DNA copy number variations, COHORT analysis, DELETION mutation, MICROSATELLITE repeats, EXONS (Genetics), PATIENTS, DIAGNOSIS
Abstract

Neurofibromatosis type 1 (NF1) is caused by dominant loss-of-function mutations of the tumor suppressor NF1 containing 57 constitutive coding exons. A huge number of different pathogenic NF1 alterations has been reported. The aim of the present study was to evaluate the usefulness of a multiplex ligation-dependent probe amplification (MLPA) approach in NF1 patients to detect single and multi-exon NF1 gene copy number variations. A genotype-phenotype correlation was then performed in NF1 patients carrying these types of genetic alterations. Among 565 NF1 index cases from the French NF1 cohort, single and multi-exon deletions/duplications screening identified NF1 partial deletions/duplications in 22 patients (~4%) using MLPA analysis. Eight single exon deletions, 11 multiple exons deletions, 1 complex rearrangement and 2 duplications were identified. All results were confirmed using a custom array-CGH. MLPA and custom array-CGH allowed the identification of rearrangements that were missed by cDNA/DNA sequencing or microsatellite analysis. We then performed a targeted next-generation sequencing of NF1 that allowed confirmation of all 22 rearrangements. No clear genotype-phenotype correlations were found for the most clinically significant disease features of NF1 in patients with single and multi-exons NF1 gene copy number changes. [ABSTRACT FROM AUTHOR]

Published
2015
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208. Identification of the first intragenic deletion of the PITX2 gene causing an Axenfeld-Rieger Syndrome: case report

Author

de la Houssaye, Guillaume, primary, Bieche, Ivan, additional, Roche, Olivier, additional, Vieira, Véronique, additional, Laurendeau, Ingrid, additional, Arbogast, Laurence, additional, Zeghidi, Hatem, additional, Rapp, Philippe, additional, Halimi, Philippe, additional, Vidaud, Michel, additional, Dufier, Jean-Louis, additional, Menasche, Maurice, additional, and Abitbol, Marc, additional

Published
2006
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210. Intracerebral adeno-associated virus-mediated gene transfer in rapidly progressive forms of metachromatic leukodystrophy

Author

Sevin, Caroline, primary, Benraiss, Abdellatif, additional, Van Dam, Debby, additional, Bonnin, Delphine, additional, Nagels, Guy, additional, Verot, Lucie, additional, Laurendeau, Ingrid, additional, Vidaud, Michel, additional, Gieselmann, Volkmar, additional, Vanier, Marie, additional, De Deyn, Peter Paul, additional, Aubourg, Patrick, additional, and Cartier, Nathalie, additional

Published
2005
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214. Characterization of the human and mouse ETV1/ER81 transcription factor genes: Role of the two alternatively spliced isoforms in the human

Author

Coutte, Laurent, Monte, Didier, Imai, Kenji, Pouilly, Laurent, Dewitte, Frédérique, Vidaud, Michel, Adamski, Jerzy, Baert, Jean-Luc, De Launoit, Yvan, Coutte, Laurent, Monte, Didier, Imai, Kenji, Pouilly, Laurent, Dewitte, Frédérique, Vidaud, Michel, Adamski, Jerzy, Baert, Jean-Luc, and De Launoit, Yvan

Abstract

The Ets transcription factors of the PEA3 group - E1AF/PEA3, ETV1/ER81 and ERM - are almost identical in the ETS DNA-binding and the transcriptional acidic domains. To accelerate our understanding of the molecular basis of putative diseases linked to ETV1 such as Ewing's sarcoma we characterized the human ETV1 and the mouse ER81 genes. We showed that these genes are both encoded by 13 exons in more than 90 kbp genomic DNA, and that the classical acceptor and donor splicing sites are present in each junction except for the 5' donor site of intron 9 where GT is replaced by TT. The genomic organization of the ETS and acidic domains in the human ETV1 and mouse ER81 (localized to chromosome 12) genes is similar to that observed in human ERM and human E1AF/PEA3 genes. Moreover, as in human ERM and human E1AF/PEA3 genes, a first untranslated exon is upstream from the first methionine, and the mouse ER81 gene transcription is regulated by a 1.8 kbp of genomic DNA upstream from this exon. In human, the alternative splicing of the ETV1 gene leads to the presence (ETV1α) or the absence (ETV1β) of exon 5 encoding the C-terminal part of the transcriptional acidic domain, but without affecting the alpha helix previously described as crucial for transactivation. We demonstrated here that the truncated isoform (human ETV1β) and the full-length isoform (human ETV1α) bind similarly specific DNA Ets binding sites. Moreover, they both activate transcription similarly through the PKA-transduction pathway, so suggesting that this alternative splicing is not crucial for the function of this protein as a transcription factor. The comparison of human ETV1α and human ETV1β expression in the same tissues, such as the adrenal gland or the bladder, showed no clear-cut differences. Altogether, these data open a new avenue of investigation leading to a better understanding of the functional role of this transcription factor., SCOPUS: ar.j, info:eu-repo/semantics/published

Published
1999

228. Effect of tyrosine kinase inhibitor STI571 on the kinase activity of wild-type and various mutated c-kit receptors found in mast cell neoplasms

Author

Zermati, Yael, primary, De Sepulveda, Paulo, additional, Féger, Frederic, additional, Létard, Sebastion, additional, Kersual, Joelle, additional, Castéran, Nathalie, additional, Gorochov, Guy, additional, Dy, Michel, additional, Ribadeau Dumas, Antoni, additional, Dorgham, Karim, additional, Parizot, Christophe, additional, Bieche, Yann, additional, Vidaud, Michel, additional, Lortholary, Olivier, additional, Arock, Michel, additional, Hermine, Olivier, additional, and Dubreuil, Patrice, additional

Published
2003
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231. Increased incidence of ERBB2 overexpression and TP53 mutation in inflammatory breast cancer

Author

Turpin, Elizabeth, primary, Bièche, Ivan, additional, Bertheau, Philippe, additional, Plassa, Louis-François, additional, Lerebours, Florence, additional, de Roquancourt, Anne, additional, Olivi, Martine, additional, Espié, Marc, additional, Marty, Michel, additional, Lidereau, Rosette, additional, Vidaud, Michel, additional, and de Thé, Hughes, additional

Published
2002
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232. Expression profiling in liver cirrhosis and hepatocellular carcinoma (HCC) using a large scale real time RT-PCR approach

Author

Paradis, Valerie, primary, Bieche, Ivan, additional, Dargere, Delphine, additional, Laurendeau, Ingrid, additional, Bonvoust, Franck, additional, Olivi, Martine, additional, Nectoux, Juliette, additional, Belghiti, Jacques, additional, Degott, Claude, additional, Vidaud, Michel, additional, and Bedossa, Pierre, additional

Published
2002
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234. Pregnancy-Associated Plasma Protein-A (PAPP-A) in Ovine, Bovine, Porcine, and Equine Ovarian Follicles: Involvement in IGF Binding Protein-4 Proteolytic Degradation and mRNA Expression During Follicular Development

Author

Mazerbourg, Sabine, primary, Overgaard, Michael T., additional, Oxvig, Claus, additional, Christiansen, Michael, additional, Conover, Cheryl A., additional, Laurendeau, Ingrid, additional, Vidaud, Michel, additional, Tosser-Klopp, Gwenola, additional, Zapf, Jürgen, additional, and Monget, Philippe, additional

Published
2001
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236. hTERT expression in sporadic renal cell carcinomas

Author

Paradis, Valérie, primary, Bièche, Ivan, additional, Dargère, Delphine, additional, Bonvoust, Franck, additional, Ferlicot, Sophie, additional, Olivi, Martine, additional, Ben Lagha, Nadia, additional, Blanchet, Pascal, additional, Benoît, Gérard, additional, Vidaud, Michel, additional, and Bedossa, Pierre, additional

Published
2001
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246. PRC2 loss amplifies Ras-driven transcription and confers sensitivity to BRD4-based therapies.

Author

De Raedt, Thomas, Cichowski, Karen, Clapp, Wade, Bradner, James, Upadhyaya, Meena, Legius, Eric, Beert, Eline, Pasmant, Eric, Luscan, Armelle, Ortonne, Nicolas, Vidaud, Michel, Brems, Hilde, Helin, Kristian, Hornick, Jason L., Mautner, Victor, and Kehrer-Sawatzki, Hildegard

Subjects
POLYCOMB group proteins, CANCER treatment, GENE therapy, GENETIC transcription, TUMORS, GTPASE-activating protein
Abstract

The polycomb repressive complex 2 (PRC2) exerts oncogenic effects in many tumour types. However, loss-of-function mutations in PRC2 components occur in a subset of haematopoietic malignancies, suggesting that this complex plays a dichotomous and poorly understood role in cancer. Here we provide genomic, cellular, and mouse modelling data demonstrating that the polycomb group gene SUZ12 functions as tumour suppressor in PNS tumours, high-grade gliomas and melanomas by cooperating with mutations in NF1. NF1 encodes a Ras GTPase-activating protein (RasGAP) and its loss drives cancer by activating Ras. We show that SUZ12 loss potentiates the effects of NF1 mutations by amplifying Ras-driven transcription through effects on chromatin. Importantly, however, SUZ12 inactivation also triggers an epigenetic switch that sensitizes these cancers to bromodomain inhibitors. Collectively, these studies not only reveal an unexpected connection between the PRC2 complex, NF1 and Ras, but also identify a promising epigenetic-based therapeutic strategy that may be exploited for a variety of cancers. [ABSTRACT FROM AUTHOR]

Published
2014
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247. Mutations in SETD2 cause a novel overgrowth condition.

Author

Luscan, Armelle, Laurendeau, Ingrid, Malan, Valérie, Francannet, Christine, Odent, Sylvie, Giuliano, Fabienne, Lacombe, Didier, Touraine, Renaud, Vidaud, Michel, Pasmant, Eric, and Cormier-Daire, Valérie

Subjects
GENETIC mutation, GROWTH disorders, METHYLATION, RARE diseases, HISTONE methylation
Abstract

Background Overgrowth conditions are a heterogeneous group of disorders characterised by increased growth and variable features, including macrocephaly, distinctive facial appearance and various degrees of learning difficulties and intellectual disability. Among them, Sotos and Weaver syndromes are clinically well defined and due to heterozygous mutations in NSD1 and EZH2, respectively. NSD1 and EZH2 are both histone-modifying enzymes. These two epigenetic writers catalyse two specific post-translational modifications of histones: methylation of histone 3 lysine 36 (H3K36) and lysine 27 (H3K27). We postulated that mutations in writers of these two chromatin marks could cause overgrowth conditions, resembling Sotos or Weaver syndromes, in patients with no NSD1 or EZH2 abnormalities. Methods We analysed the coding sequences of 14 H3K27 methylation-related genes and eight H3K36 methylation-related genes using a targeted nextgeneration sequencing approach in three Sotos, 11 'Sotos-like' and two Weaver syndrome patients. Results We identified two heterozygous mutations in the SETD2 gene in two patients with 'Sotos-like' syndrome: one missense p.Leu1815Trp de novo mutation in a boy and one nonsense p.Gln274* mutation in an adopted girl. SETD2 is non-redundantly responsible for H3K36 trimethylation. The two probands shared similar clinical features, including postnatal overgrowth, macrocephaly, obesity, speech delay and advanced carpal ossification. Conclusions Our results illustrate the power of targeted next-generation sequencing to identify rare disease-causing variants. We provide a compelling argument for Sotos and Sotos-like syndromes as epigenetic diseases caused by loss-of-function mutations of epigenetic writers of the H3K36 histone mark. [ABSTRACT FROM AUTHOR]

Published
2014
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248. Prostate cancer outcomes in France: treatments, adverse effects and two-year mortality.

Author

Tuppin, Philippe, Samson, Solène, Fagot-Campagna, Anne, Lukacs, Bertrand, Alla, François, Paccaud, Fred, Thalabard, Jean-Christophe, Vicaut, Eric, Vidaud, Michel, and Millat, Bertrand

Subjects
PROSTATE cancer treatment, DRUG side effects, PROSTATECTOMY, RADIOTHERAPY, MORTALITY
Abstract

Background This very large population-based study investigated outcomes after a diagnosis of prostate cancer (PCa) in terms of mortality rates, treatments and adverse effects. Methods Among the 11 million men aged 40 years and over covered by the general national health insurance scheme, those with newly managed PCa in 2009 were followed for two years based on data from the national health insurance information system (SNIIRAM). Patients were identified using hospitalisation diagnoses and specific refunds related to PCa and PCa treatments. Adverse effects of PCa treatments were identified by using hospital diagnoses, specific procedures and drug refunds. Results The age-standardised two-year all-cause mortality rate among the 43,460 men included in the study was 8.4%, twice that of all men aged 40 years and over. Among the 36,734 two-year survivors, 38% had undergone prostatectomy, 36% had been treated by hormone therapy, 29% by radiotherapy, 3% by brachytherapy and 20% were not treated. The frequency of treatment-related adverse effects varied according to age and type of treatment. Among men between 50 and 69 years of age treated by prostatectomy alone, 61% were treated for erectile dysfunction and 24% were treated for urinary disorders. The frequency of treatment for these disorders decreased during the second year compared to the first year (erectile dysfunction: 41% vs 53%, urinary disorders: 9% vs 20%). The frequencies of these treatments among men treated by external beam radiotherapy alone were 7% and 14%, respectively. Among men between 50 and 69 years with treated PCa, 46% received treatments for erectile dysfunction and 22% for urinary disorders. For controls without PCa but treated surgically for benign prostatic hyperplasia, these frequencies were 1.5% and 6.0%, respectively. Conclusions We report high survival rates two years after a diagnosis of PCa, but a high frequency of PCa treatment-related adverse effects. These frequencies remain underestimated, as they are based on treatments for erectile dysfunction and urinary disorders and do not reflect all functional outcomes. These results should help urologists and general practitioners to inform their patients about outcomes at the time of screening and diagnosis, and especially about potential treatment-related adverse effects. [ABSTRACT FROM AUTHOR]

Published
2014
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