35 results on '"Fellous, Marc"'
Search Results
2. Long-term efficacy and safety of larotrectinib in a pooled analysis of patients with tropomyosin receptor kinase (TRK) fusion cancer
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Drilon, Alexander E., Hong, David S., Tilburg, Cornelis Martinus, Doz, Francois, Tan, Daniel S. W., Kummar, Shivaani, Lin, Jessica Jiyeong, Mcdermott, Raymond S., Zwaan, C. Michel, Norenberg, Ricarda, Fellous, Marc Mardoche, Brega, Nicoletta, Xu, Rui-Hua, Laetsch, Theodore Willis, and Shen, Lin
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Cancer Research ,Oncology - Abstract
3100 Background: Neurotrophic tyrosine receptor kinase ( NTRK) gene fusions are oncogenic drivers in multiple tumors. Larotrectinib is a highly selective, central nervous system (CNS)-active tropomyosin receptor kinase (TRK) inhibitor, approved to treat adult and pediatric patients (pts) with TRK fusion cancer. In an integrated analysis of 206 pts with non-primary CNS TRK fusion cancer, larotrectinib demonstrated an investigator-assessed objective response rate (ORR) of 75%; median progression-free survival (PFS) was 35.4 months (mo; Hong et al, ASCO 2021). We report updated efficacy and safety data based on central review assessments in an expanded dataset. Methods: Data were pooled from three clinical trials (NCT02576431, NCT02122913, and NCT02637687) of pts with non-primary CNS TRK fusion cancer treated with larotrectinib. Larotrectinib was administered until disease progression, withdrawal, or unacceptable toxicity. ORR was assessed by independent review committee (IRC) per RECIST v1.1. Data cut-off was July 20, 2021. Results: As of data cut-off, 244 of 269 larotrectinib-treated pts were evaluable for efficacy by IRC. There were 25 different tumor types. The most common were soft tissue sarcoma (STS [43%], including infantile fibrosarcoma [18%] and other STS [25%]), thyroid (11%), lung (10%), salivary gland (9%), and colorectal (7% [colon, n = 18; rectal, n = 1]). Ninety-four (35%) pts were aged < 18 years; 175 (65%) were ≥18 years. Pts had gene fusions involving NTRK1 (46%), NTRK2 (3%), or NTRK3 (51%). A total of 27%, 28%, and 45% of pts had 0, 1, and ≥2 prior lines of systemic therapy, respectively. The ORR was 69% (95% confidence interval [CI] 63–75): 64 (26%) complete response (CR), including 13 (5%) pathological CR, 104 (43%) partial response,41 (17%) stable disease, 20 (8%) progressive disease, and 15 (6%) not determined. Median time to response was 1.8 mo (range 0.9–16.2). Median duration of response (DoR) was 32.9 mo (95% CI 27.3–41.7); median follow-up was 28.3 mo. Median PFS was 29.4 mo (95% CI 19.3–34.3); median follow-up was 29.3 mo. At a median follow-up of 32.2 mo, median overall survival (OS) was not reached; the 48-mo OS rate was 64% (95% CI 55–73). Treatment duration ranged from 0.1 to 67.9 months. Treatment-related adverse events (TRAEs) were mainly Grade 1–2; 50 (20%) pts had Grade 3–4 TRAEs. Five (2%) pts discontinued treatment due to TRAEs. To exclude the possible confounding effect of ongoing enrollment on median DoR, we conducted an exploratory analysis in the subset of 164 pts who were analyzed as of July 2019. The ORR was 74% (95% CI 67–81) and median DoR was 34.5 mo (95% CI 27.6–43.3); median follow-up was 34.1 mo. Conclusions: With longer follow-up, larotrectinib continued to demonstrate rapid and durable responses, extended survival benefit, and a favorable safety profile. These results highlight the importance of testing for NTRK gene fusions in cancer pts. Clinical trial information: NCT02576431, NCT02122913, NCT02637687.
- Published
- 2022
3. sj-pdf-1-tam-10.1177_1758835920975613 – Supplemental material for A systematic review and meta-analysis of neurotrophic tyrosine receptor kinase gene fusion frequencies in solid tumors
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Forsythe, Anna, Zhang, Wei, Strauss, Uwe Phillip, Fellous, Marc, Maesumeh Korei, and Keating, Karen
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110203 Respiratory Diseases ,FOS: Clinical medicine ,111702 Aged Health Care ,FOS: Health sciences ,111599 Pharmacology and Pharmaceutical Sciences not elsewhere classified ,111299 Oncology and Carcinogenesis not elsewhere classified - Abstract
Supplemental material, sj-pdf-1-tam-10.1177_1758835920975613 for A systematic review and meta-analysis of neurotrophic tyrosine receptor kinase gene fusion frequencies in solid tumors by Anna Forsythe, Wei Zhang, Uwe Phillip Strauss, Marc Fellous, Maesumeh Korei and Karen Keating in Therapeutic Advances in Medical Oncology
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- 2021
- Full Text
- View/download PDF
4. sj-pdf-1-tam-10.1177_1758835920975613 – Supplemental material for A systematic review and meta-analysis of neurotrophic tyrosine receptor kinase gene fusion frequencies in solid tumors
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Forsythe, Anna, Zhang, Wei, Strauss, Uwe Phillip, Fellous, Marc, Maesumeh Korei, and Keating, Karen
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110203 Respiratory Diseases ,FOS: Clinical medicine ,111702 Aged Health Care ,FOS: Health sciences ,111599 Pharmacology and Pharmaceutical Sciences not elsewhere classified ,111299 Oncology and Carcinogenesis not elsewhere classified - Abstract
Supplemental material, sj-pdf-1-tam-10.1177_1758835920975613 for A systematic review and meta-analysis of neurotrophic tyrosine receptor kinase gene fusion frequencies in solid tumors by Anna Forsythe, Wei Zhang, Uwe Phillip Strauss, Marc Fellous, Maesumeh Korei and Karen Keating in Therapeutic Advances in Medical Oncology
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- 2021
- Full Text
- View/download PDF
5. sj-pdf-1-tam-10.1177_1758835920975613 – Supplemental material for A systematic review and meta-analysis of neurotrophic tyrosine receptor kinase gene fusion frequencies in solid tumors
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Forsythe, Anna, Zhang, Wei, Strauss, Uwe Phillip, Fellous, Marc, Maesumeh Korei, and Keating, Karen
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110203 Respiratory Diseases ,FOS: Clinical medicine ,111702 Aged Health Care ,FOS: Health sciences ,111599 Pharmacology and Pharmaceutical Sciences not elsewhere classified ,111299 Oncology and Carcinogenesis not elsewhere classified - Abstract
Supplemental material, sj-pdf-1-tam-10.1177_1758835920975613 for A systematic review and meta-analysis of neurotrophic tyrosine receptor kinase gene fusion frequencies in solid tumors by Anna Forsythe, Wei Zhang, Uwe Phillip Strauss, Marc Fellous, Maesumeh Korei and Karen Keating in Therapeutic Advances in Medical Oncology
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- 2020
- Full Text
- View/download PDF
6. Additional file 1: of Liver function changes after transarterial chemoembolization in US hepatocellular carcinoma patients: the LiverT study
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Miksad, Rebecca, Sadahisa Ogasawara, Xia, Fang, Fellous, Marc, and Piscaglia, Fabio
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This file includes additional results such as figures and tables. (DOCX 60 kb)
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- 2019
- Full Text
- View/download PDF
7. A non-sense MCM9 mutation in a familial case of primary ovarian insufficiency
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Fauchereau, Fabien, Shalev, Stavit, Chervinsky, Elana, Fruchter, Ronit Beck, Legois, Bérengère, Fellous, Marc, Caburet, Sandrine, Veitia, Reiner A, Institut Jacques Monod (IJM (UMR_7592)), Université Paris Diderot - Paris 7 (UPD7)-Centre National de la Recherche Scientifique (CNRS), Rappaport faculty of Medicine, Technion - Israel Institute of Technology [Haifa], Genetics Institute, Emek Medical Center, OBGYN Department, Ha'Emek Medical Center, Afula, Institut Cochin (UMR_S567 / UMR 8104), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Institut Cochin (IC UM3 (UMR 8104 / U1016)), Centre National de la Recherche Scientifique (CNRS)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Université Paris Descartes - Faculté de Médecine (UPD5 Médecine), Université Paris Descartes - Paris 5 (UPD5), Université Paris Diderot, Fondation pour la Recherche Médicale. Grant Number: DEQ20150331757, Fondation Maladies Rares. Grant Number: PJ1502024, Institut Jacques Monod (IJM), Université Paris Diderot - Paris 7 (UPD7) - Centre National de la Recherche Scientifique (CNRS), Université Paris Descartes - Paris 5 (UPD5) - Institut National de la Santé et de la Recherche Médicale (INSERM) - Centre National de la Recherche Scientifique (CNRS), Institut Cochin (UM3 (UMR 8104 / U1016)), and Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Descartes - Paris 5 (UPD5)
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Male ,Genotype ,DNA Mutational Analysis ,[SDV.GEN] Life Sciences [q-bio]/Genetics ,[SDV.BBM.BM] Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular biology ,Polymorphism, Single Nucleotide ,Consanguinity ,INDEL Mutation ,Humans ,Genetic Predisposition to Disease ,MCM9 ,ComputingMilieux_MISCELLANEOUS ,Family Health ,[SDV.GEN]Life Sciences [q-bio]/Genetics ,[SDV.MHEP] Life Sciences [q-bio]/Human health and pathology ,Base Sequence ,Minichromosome Maintenance Proteins ,[SDV.BBM.BM]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular biology ,Pedigree ,primary ovarian insufficiency ,Codon, Nonsense ,Female ,infertility ,exome sequencing ,[SDV.MHEP]Life Sciences [q-bio]/Human health and pathology ,reproductive medicine - Abstract
Primary ovarian insufficiency (POI) results in an early loss of ovarian function, and remains idiopathic in about 80% of cases. Here, we have performed a complete genetic study of a consanguineous family with two POI cases. Linkage analysis and homozygosity mapping identified 12 homozygous regions with linkage, totalling 84 Mb. Whole-exome sequencing of the two patients and a non-affected sister allowed us to detect a homozygous causal variant in the MCM9 gene. The variant c.1483GT [p.E495*], confirmed using Sanger sequencing, introduced a premature stop codon in coding exon 8 and is expected to lead to the loss of a functional protein. MCM9 belongs to a complex required for DNA repair by homologous recombination, and its impairment in mouse is known to induce meiotic recombination defects and oocyte degeneration. A previous study recently described two consanguineous families in which homozygous mutations of MCM9 were responsible for POI and short stature. Interestingly, the affected sisters in the family described here had a normal height. Altogether, our results provide the confirmation of the implication of MCM9 variants in POI and expand their phenotypic spectrum.
- Published
- 2016
8. Potential environmental impacts associated with large-scale herbicide-tolerant GM oilseed rape crops
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Fellous Marc and Messéan Antoine
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environmental risks ,lcsh:TP670-699 ,lcsh:Oils, fats, and waxes ,Biomolecular Engineering Commission - Abstract
The Biomolecular Engineering Commission considers that the knowledge acquired in the last three years has provided significant information in reply to the points raised in its review dated 16 February 2001. The Commission has studied the potential environmental impacts associated with large-scale herbicidetolerantGMoilseed rape crops, making a distinction between direct and indirect impacts. Direct impacts stem from the intrinsic properties of herbicide-tolerant GM oilseed rape crops whereas indirect impacts result from practices associated with the farming of these crops. The Commission considers that, in the absence of the use of the herbicide in question in and outside of farmed land, there is no direct environmental risk (development of invasive crops per se) associated with the presence of a herbicide-tolerance gene in oilseed rape (or related species). Nevertheless, since the interest of these tolerant crops lies in the use of the herbicide in question, indirect effects, to varying extents, have been identified and must be taken into account: the use of the herbicide in question, applied to agricultural fields containing the herbicide-tolerant crop could lead to an increase in oilseed rape volunteer populations in crop rotations; the selective pressure exerted by non-specific herbicides (to which the crops have been rendered tolerant) may be very high in cases of continuous and uncontrolled use of these herbicides, and may result in the persistence of rare events such as the reproduction of fertile interspecies hybrids; the change to the range of herbicides used should be conveyed by more effective weed control and, like any change in farming practices, induce indirect effects on the agri-ecosystem, particularly in terms of changes to weeds and the associated animal life. Accordingly, the Biomolecular Engineering Commission recommends a global approach in terms of the large-scale farming of herbicide-tolerant crops that: accounts for the characteristics of the herbicide and its current and future use; accounts for herbicide-tolerant varieties belonging to other species, liable to be farmed in French agriculture in the short term; targets, if applicable, the selection of crop/herbicide combinations according to the constraints associated with French agriculture; coordinates the evaluations conducted on herbicide-tolerant crops and those conducted on herbicides; implements a biovigilance system and its associated resources whenever herbicide-tolerant crop farming is envisaged. Our report highlights the need for the management of any herbicide-tolerant GM oilseed rape crops. Such a management plan must account for the diverse cropping situations, including crop rotations and farming practices. Management should be based on the prior evaluation of situations encountered, the development of measures commensurate with the risks, and a validation of their efficacy through biovigilance. The Biomolecular Engineering Commission considers that the indirect environmental and agronomic impacts associated with current management practices employed for herbicide-tolerant oilseed rape crops can only be determined, in addition to the knowledge acquired, by continuing ongoing experimental studies initiated. Mathematical and computer models – by formalizing complex scenarios that incorporate the functioning of different oilseed rape populations (farmed, spontaneous, volunteer plants) under specific farming practices – enables the simulation of potential impacts and the identification of suitable management measures. Nevertheless, at the present time, the introduction of more extensive farming than that currently practised, or managed progressive introduction, would make it possible to progress in the study of impacts and develop and validate management procedures enabling the limitation of adverse impacts. In the specific case of imports, the Biomolecular Engineering Commission considers that herbicidetolerant GM oilseed rape seed imports for processing and animal feed does not represent additional risks for the environment compared to other oilseed rape varieties on the market. Due to the very low likelihood of the dispersal of tolerant oilseed rape crops from imported seed, the impact of the herbicides used on communication routes is considered to be negligible in the current context. However, in order to supplement the information available on environmental impacts and avert any changes to the current situation, the Commission recommends that a general monitoring plan be implemented in parallel to the introduction of seeds onto the market. Finally, the Biomolecular Engineering Commission considers that biovigilance systems adapted to the various risks should be in place before any farming of commercial herbicide-tolerant varieties is undertaken. The Biomolecular Engineering Commission considers its analysis to be valid for non-selective herbicidetolerant varieties of oilseed rape obtained both by transgenesis and by means of a technique other than transgenesis.
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- 2004
9. Prendre la mesure d’une culture ouverte et responsable
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Marris, Claire, Heams, Thomas, Kepes, Francois, Campos, Luis, Monsan, Pierre, Toussaint, Jean-François, Benoit-Browaeys, Dorothee, Haiech, Jacques, Alix, Jean-Pierre, Fellous, Marc, School of Social Science & Public Policy, Department of Social Science, Health & Medicine, Centre for Synthetic Biology and Innovation (CSynBI), King‘s College London, Génétique Animale et Biologie Intégrative (GABI), Institut National de la Recherche Agronomique (INRA)-AgroParisTech, Institut de biologie systémique et synthétique (ISSB), Université d'Évry-Val-d'Essonne (UEVE)-Génopole-Centre National de la Recherche Scientifique (CNRS), Department of History, Institut National des Sciences Appliquées de Lyon (INSA Lyon), Université de Lyon-Institut National des Sciences Appliquées (INSA), Institut National des Sciences Appliquées - Toulouse (INSA Toulouse), Institut National des Sciences Appliquées (INSA), Independent, Faculté de Médecine, Laboratoire d'Innovation Thérapeutique, Université de Strasbourg (UNISTRA), AgroParisTech-Institut National de la Recherche Agronomique (INRA), Université d'Évry-Val-d'Essonne (UEVE)-Centre National de la Recherche Scientifique (CNRS), Laboratoire d'Innovation Thérapeutique (LIT), Université de Strasbourg (UNISTRA)-Institut de Chimie du CNRS (INC)-Centre National de la Recherche Scientifique (CNRS), and Institut National des Sciences Appliquées (INSA)-Université de Toulouse (UT)
- Subjects
[SDV]Life Sciences [q-bio] - Abstract
Discussion Session 2Discussion Session 2; Prendre la mesure d’une culture ouverte et responsable. 3. Colloque Sciences de la vie en société
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- 2012
10. The identification and characterization of a FOXL2 response element provides insights into the pathogenesis of mutant alleles
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BENAYOUN, B.A., Caburet, S., Dipietromaria, A., Bailly-Bechet, Marc, Batista, F., Fellous, Marc, Vaiman, Daniel, Veitia, R.A., ProdInra, Migration, Bioinformatique, phylogénie et génomique évolutive (BPGE), Département PEGASE [LBBE] (PEGASE), Laboratoire de Biométrie et Biologie Evolutive - UMR 5558 (LBBE), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de Recherche en Informatique et en Automatique (Inria)-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Centre National de la Recherche Scientifique (CNRS)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de Recherche en Informatique et en Automatique (Inria)-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Centre National de la Recherche Scientifique (CNRS)-Laboratoire de Biométrie et Biologie Evolutive - UMR 5558 (LBBE), and Université de Lyon-Université de Lyon-Institut National de Recherche en Informatique et en Automatique (Inria)-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Centre National de la Recherche Scientifique (CNRS)
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[SDV] Life Sciences [q-bio] ,[SDV.OT]Life Sciences [q-bio]/Other [q-bio.OT] ,FOXL2 ,REPRODUCTION ,[SDV]Life Sciences [q-bio] ,HUMAN - Published
- 2008
11. Human genetic of premature ovarian failure: a mendelian and candidate genes approach
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Caburet, Sandrine, Batista, Frank, Laissue, Paul, Reiner, A. Veitia, Fellous, Marc, Bacq, Delphine, Heath, Simon, Lathrop, Mark, Mandon-Pepin, Béatrice, Christin-Maitre, Sophie, Bouchard, Philippe, Touraine, Philippe, Ben Neriah, Zivah, Shalev, Stavit, Coppelli, Silvia, Institut Cochin (IC UM3 (UMR 8104 / U1016)), Centre National de la Recherche Scientifique (CNRS)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre National de Génotypage (CNG), Biologie du développement et reproduction (BDR), Centre National de la Recherche Scientifique (CNRS)-École nationale vétérinaire d'Alfort (ENVA)-Institut National de la Recherche Agronomique (INRA), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Hôpital Hadassah, Partenaires INRAE, Medical Center, and Caece University
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PREMATURE OVARIAN FAILURE ,[SDV]Life Sciences [q-bio] ,[INFO]Computer Science [cs] ,GENETIQUE ,ComputingMilieux_MISCELLANEOUS - Abstract
International audience
- Published
- 2006
12. Interspecific chromosome-wide transcription profiles reveal the existence of mammalian-specific and species-specific chromosome domains
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Cosseddu, G.M., Perez-Enciso, Miguel, Fellous, Marc, Vaiman, Daniel, ProdInra, Migration, Unité de recherche Génétique Biochimique et Cytogénétique (LGBC), and Institut National de la Recherche Agronomique (INRA)
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COMPARATIVE GENOMICS ,[SDV] Life Sciences [q-bio] ,GENE EXPRESSION ,[SDV]Life Sciences [q-bio] ,ComputingMilieux_MISCELLANEOUS ,CHROMOSOMAL DOMAINS ,DOMAINE CHROMOSOMIQUE - Abstract
International audience
- Published
- 2004
13. Molecular aspects of female and male gonodal development in mammals
- Author
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Pannetier, Maëlle, Mandon-Pepin, Béatrice, Copelli, S., Fellous, Marc, Biologie du développement et reproduction (BDR), and Centre National de la Recherche Scientifique (CNRS)-École nationale vétérinaire d'Alfort (ENVA)-Institut National de la Recherche Agronomique (INRA)
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[SDV]Life Sciences [q-bio] ,[INFO]Computer Science [cs] ,ComputingMilieux_MISCELLANEOUS - Abstract
International audience
- Published
- 2004
14. Molecular genetics of sex determination
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Cotinot, Corinne, Pailhoux, Eric, Jaubert, F., Fellous, Marc, Unité biologie du développement et biotechnologie, and École nationale vétérinaire d'Alfort (ENVA)-Institut National de la Recherche Agronomique (INRA)
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[SDV]Life Sciences [q-bio] ,REPRODUCTION SEXUEE - Abstract
68 ref.; International audience
- Published
- 2002
15. Linkage and association of the glutamate receptor 6 gene with autism
- Author
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Jamain, Stéphane, Betancur, Catalina, Quach, Hélène, Philippe, Anne, Fellous, Marc, Giros, Bruno, Gillberg, Christopher, Leboyer, Marion, Bourgeron, Thomas, Génomique fonctionnelle et développement, Institut Pasteur [Paris] (IP)-Institut National de la Santé et de la Recherche Médicale (INSERM), Neurobiologie et Psychiatrie, Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM), Department of Child and Adolescent Psychiatry, University of Gothenburg (GU), Département de Psychiatrie, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Albert Chenevier, This work was supported by the Délégation de la Recherche Clinique de l'Assistance Publique-Hôpitaux de Paris, the French Research Ministry (Actions Concertées Incitatives), France Télécom, and the Swedish Medical Research Council. C.B. was supported by a Cure Autism Now Foundation Award., Paris Autism Research International Sibpair (PARIS) Study, and Betancur, Catalina
- Subjects
GluR6 ,MESH: Chromosomes, Human, Pair 6 ,MESH: Autistic Disorder ,MESH: Amino Acid Sequence ,[SDV.GEN] Life Sciences [q-bio]/Genetics ,MESH: Genetic Markers ,MESH: Genotype ,MESH: Brain ,single nucleotide polymorphism ,MESH: Child ,MESH: Family ,TDT ,GRIK2 ,[SDV.GEN]Life Sciences [q-bio]/Genetics ,MESH: Humans ,MESH: Molecular Sequence Data ,affected sib-pair method ,editing ,MESH: Receptor ,isoforms ,mutation screening ,MESH: Glutamic Acid ,MESH: Open Reading Frames ,MESH: Male ,autistic disorder ,MESH: Chromosome Mapping ,MESH: Exons ,MESH: Linkage (Genetics) ,MESH: Female ,linkage disequilibrium - Abstract
International audience; A genome scan was previously performed and pointed to chromosome 6q21 as a candidate region for autism. This region contains the glutamate receptor 6 (GluR6 or GRIK2) gene, a functional candidate for the syndrome. Glutamate is the principal excitatory neurotransmitter in the brain and is directly involved in cognitive functions such as memory and learning. We used two different approaches, the affected sib-pair (ASP) method and the transmission disequilibrium test (TDT), to investigate the linkage and association between GluR6 and autism. The ASP method, conducted with additional markers on the 51 original families and in eight new sibling pairs, showed a significant excess of allele sharing, generating an elevated multipoint maximum LOD score (ASPEX MLS = 3.28). TDT analysis, performed in the ASP families and in an independent data set of 107 parent-offspring trios, indicated a significant maternal transmission disequilibrium (TDTall P = 0.0004). Furthermore, TDT analysis (with only one affected proband per family) showed significant association between GluR6 and autism (TDT association P = 0.008). In contrast to maternal transmission, paternal transmission of GluR6 alleles was as expected in the absence of linkage, suggesting a maternal effect such as imprinting. Mutation screening was performed in 33 affected individuals, revealing several nucleotide polymorphisms (SNPs), including one amino acid change (M867I) in a highly conserved domain of the intracytoplasmic C-terminal region of the protein. This change is found in 8% of the autistic subjects and in 4% of the control population and seems to be more maternally transmitted than expected to autistic males (P = 0.007). Taken together, these data suggest that GluR6 is in linkage disequilibrium with autism.
- Published
- 2002
16. Génétique et infertilité humaine : 'une approche gènes candidats'
- Author
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Mandon-Pepin, Béatrice, Derbois, C., Matsuda, F., Cotinot, Corinne, Wolgemuth, D.J., Smith, K., McElreavey, K., Nicolas, A., Fellous, Marc, Unité biologie du développement et biotechnologie, and École nationale vétérinaire d'Alfort (ENVA)-Institut National de la Recherche Agronomique (INRA)
- Subjects
[SDV]Life Sciences [q-bio] ,GENETIQUE ,ComputingMilieux_MISCELLANEOUS - Abstract
National audience
- Published
- 2002
17. Linkage and association of the glutamate receptor 6 gene with autism
- Author
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Jamain, Stéphane, Betancur, Catalina, Quach, Hélène, Philippe, Anne, Fellous, Marc, Giros, Bruno, Gillberg, Christopher, Leboyer, Marion, Bourgeron, Thomas, Génomique fonctionnelle et développement, Institut Pasteur [Paris]-Institut National de la Santé et de la Recherche Médicale (INSERM), Neurobiologie et Psychiatrie, Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM), Department of Child and Adolescent Psychiatry, University of Gothenburg (GU), Département de Psychiatrie, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Albert Chenevier, This work was supported by the Délégation de la Recherche Clinique de l'Assistance Publique-Hôpitaux de Paris, the French Research Ministry (Actions Concertées Incitatives), France Télécom, and the Swedish Medical Research Council. C.B. was supported by a Cure Autism Now Foundation Award., Paris Autism Research International Sibpair (PARIS) Study, and Institut Pasteur [Paris] (IP)-Institut National de la Santé et de la Recherche Médicale (INSERM)
- Subjects
GluR6 ,MESH: Chromosomes, Human, Pair 6 ,MESH: Autistic Disorder ,MESH: Amino Acid Sequence ,MESH: Genetic Markers ,MESH: Genotype ,MESH: Brain ,single nucleotide polymorphism ,MESH: Child ,MESH: Family ,TDT ,GRIK2 ,[SDV.GEN]Life Sciences [q-bio]/Genetics ,MESH: Humans ,MESH: Molecular Sequence Data ,affected sib-pair method ,editing ,MESH: Receptor ,isoforms ,mutation screening ,MESH: Glutamic Acid ,MESH: Open Reading Frames ,MESH: Male ,autistic disorder ,MESH: Chromosome Mapping ,MESH: Exons ,MESH: Linkage (Genetics) ,MESH: Female ,linkage disequilibrium - Abstract
International audience; A genome scan was previously performed and pointed to chromosome 6q21 as a candidate region for autism. This region contains the glutamate receptor 6 (GluR6 or GRIK2) gene, a functional candidate for the syndrome. Glutamate is the principal excitatory neurotransmitter in the brain and is directly involved in cognitive functions such as memory and learning. We used two different approaches, the affected sib-pair (ASP) method and the transmission disequilibrium test (TDT), to investigate the linkage and association between GluR6 and autism. The ASP method, conducted with additional markers on the 51 original families and in eight new sibling pairs, showed a significant excess of allele sharing, generating an elevated multipoint maximum LOD score (ASPEX MLS = 3.28). TDT analysis, performed in the ASP families and in an independent data set of 107 parent-offspring trios, indicated a significant maternal transmission disequilibrium (TDTall P = 0.0004). Furthermore, TDT analysis (with only one affected proband per family) showed significant association between GluR6 and autism (TDT association P = 0.008). In contrast to maternal transmission, paternal transmission of GluR6 alleles was as expected in the absence of linkage, suggesting a maternal effect such as imprinting. Mutation screening was performed in 33 affected individuals, revealing several nucleotide polymorphisms (SNPs), including one amino acid change (M867I) in a highly conserved domain of the intracytoplasmic C-terminal region of the protein. This change is found in 8% of the autistic subjects and in 4% of the control population and seems to be more maternally transmitted than expected to autistic males (P = 0.007). Taken together, these data suggest that GluR6 is in linkage disequilibrium with autism.
- Published
- 2002
18. Le déterminisme du sexe : son contrôle génetique
- Author
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Cotinot, Corinne, Pailhoux, Eric, Ottolenghi, C., Veitia, Reiner, Fellous, Marc, Unité biologie du développement et biotechnologie, École nationale vétérinaire d'Alfort (ENVA)-Institut National de la Recherche Agronomique (INRA), C. Thibault (Editeur), and M.C. Levasseur (Editeur)
- Subjects
INVERSION DU SEXE ,[SDV]Life Sciences [q-bio] - Abstract
chap. 11; National audience
- Published
- 2001
19. The Human Y Chromosome: The Biological Role of a 'Functional Wasteland'
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Quintana-Murci, Lluís and Fellous, Marc
- Subjects
Article Subject - Abstract
“Functional wasteland,” “Nonrecombining desert” and “Gene-poor chromosome” are only some examples of the different definitions given to the Y chromosome in the last decade. In comparison to the other chromosomes, the Y is poor in genes, being more than 50% of its sequence composed of repeated elements. Moreover, the Y genes are in continuous decay probably due to the lack of recombination of this chromosome. But the human Y chromosome, at the same time, plays a central role in human biology. The presence or absence of this chromosome determines gonadal sex. Thus, mammalian embryos with a Y chromosome develop testes, while those without it develop ovaries (Polani [38]). What is responsible for the male phenotype is the testis-determining SRY gene (Sinclair [52]) which remains the most distinguishing characteristic of this chromosome. In addition to SRY, the presence of other genes with important functions has been reported, including a region associated to Turner estigmata, a gene related to the development of gonadoblastoma and, most important, genes related to germ cell development and maintenance and then, related with male fertility (Lahn and Page [31]). This paper reviews the structure and the biological functions of this peculiar chromosome.
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- 2001
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- View/download PDF
20. Contribution of domestic animals to the identification of new genes involved in sex determination
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Pailhoux, Eric, Vigier, Brigitte, Vaiman, Daniel, Schibler, Laurent, Vaiman, Anne, Cribiu, Edmond, Nezer, C., Georges, M., Sundström, J., Pelliniemi, L.J., Fellous, Marc, Cotinot, Corinne, Unité biologie du développement et biotechnologie, École nationale vétérinaire d'Alfort (ENVA)-Institut National de la Recherche Agronomique (INRA), Unité de recherche Génétique Biochimique et Cytogénétique (LGBC), and Institut National de la Recherche Agronomique (INRA)
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[SDV]Life Sciences [q-bio] ,ComputingMilieux_MISCELLANEOUS - Abstract
International audience
- Published
- 2001
21. A 11.7-kb delection triggers intersexuality and polledness in goats
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Pailhoux, Eric, Vigier, Brigitte, Chaffaux, Stéphane, Servel, N., Taourit, Sead, Furet, J.P., Fellous, Marc, Grosclaude, F., CRIBIU, E.P., Cotinot, Corinne, Vaiman, Daniel, Unité biologie du développement et biotechnologie, École nationale vétérinaire d'Alfort (ENVA)-Institut National de la Recherche Agronomique (INRA), Unité de recherche Génétique Biochimique et Cytogénétique (LGBC), and Institut National de la Recherche Agronomique (INRA)
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[SDV]Life Sciences [q-bio] ,ComputingMilieux_MISCELLANEOUS - Abstract
International audience
- Published
- 2001
22. sY116, a human Y-linked polymorphic STS
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Saifi, Mustafa G, Veitia, Reiner, El khil, Houssein Khodjet, Barbaux, Sandrine, Tilak, Preetha, Thomas, Manorama I, and Fellous, Marc
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Microbiology & Cell Biology - Abstract
During a study of deletions of Y-chromosomal DNA in infertile males, sY116, a Y-linked STS, showed different electrophoretic mobilities in three males, two infertile and one fertile. A study of this STS among 35 other normal males showed that this locus is polymorphic. sY116 has a polya-rich stretch whose instability appears to be the most likely cause of this polymorphism. The possible usefulness of sY116 polymorphism in the detection of subtle genome-wide instabilities in some types of cancer is discussed.
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- 2000
23. Sex reversal in man and domestic animal. Contribution to the understanding of mammalian sex differentiation
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Pailhoux, Eric, Vaiman, Daniel, Barbaux, S., Cribiu, Edmond, Cotinot, Corinne, Fellous, Marc, ProdInra, Migration, Unité de biologie cellulaire et moléculaire, Institut National de la Recherche Agronomique (INRA), and Unité de recherche Génétique Biochimique et Cytogénétique (LGBC)
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[SDV.SA]Life Sciences [q-bio]/Agricultural sciences ,[SDV.SA] Life Sciences [q-bio]/Agricultural sciences - Abstract
3 tables 3 graph.; National audience
- Published
- 1998
24. Genetic mapping of the polled/intersex locus (PIS) in goats
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CRIBIU, E.P., Vaiman, Daniel, Pailhoux, Eric, Chaffaux, Stéphane, Cotinot, Corinne, Elsen, Jean Michel, Manfredi, Eduardo, Oustry, Anne, Darré, Roland, Fellous, Marc, Grosclaude, F., ProdInra, Migration, Unité de recherche Génétique Biochimique et Cytogénétique (LGBC), Institut National de la Recherche Agronomique (INRA), Unité de biologie cellulaire et moléculaire, Station d'Amélioration Génétique des Animaux (SAGA), Cytogénétique des Populations Animales (CPA), Institut National de la Recherche Agronomique (INRA)-Ecole Nationale Vétérinaire de Toulouse (ENVT), Institut National Polytechnique (Toulouse) (Toulouse INP), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Institut National Polytechnique (Toulouse) (Toulouse INP), and Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées
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[SDV] Life Sciences [q-bio] ,[SDV.GEN]Life Sciences [q-bio]/Genetics ,[SDV]Life Sciences [q-bio] ,[SDV.GEN] Life Sciences [q-bio]/Genetics ,ComputingMilieux_MISCELLANEOUS - Abstract
International audience
- Published
- 1996
25. Physiological and genetical study of polled/intersex goats. Genetic mapping of the chromosomal region involved
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CRIBIU, E.P., Vaiman, Daniel, Pailhoux, Eric, Chaffaux, Stéphane, Cotinot, Corinne, Elsen, Jean Michel, Manfredi, Eduardo, Fellous, Marc, Grosclaude, F., Unité de recherche Génétique Biochimique et Cytogénétique (LGBC), Institut National de la Recherche Agronomique (INRA), Unité de biologie cellulaire et moléculaire, Cytogénétique des Populations Animales (CPA), Institut National de la Recherche Agronomique (INRA)-Ecole Nationale Vétérinaire de Toulouse (ENVT), Institut National Polytechnique (Toulouse) (Toulouse INP), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Institut National Polytechnique (Toulouse) (Toulouse INP), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées, Station d'Amélioration Génétique des Animaux (SAGA), and ProdInra, Migration
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[SDV] Life Sciences [q-bio] ,[SDV]Life Sciences [q-bio] ,ComputingMilieux_MISCELLANEOUS - Abstract
National audience
- Published
- 1995
26. Distinct domains of the protein tyrosine kinase tyk2 required for binding of interferon-a/b and for signal transduction
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Velazquez, Laura, Mogensen, Knud Erik, Fellous, Marc, Uzé, Gilles, Pellegrini, Sandra, Expression des gènes du complexe majeur d'histocompatibilité, Institut Pasteur [Paris] (IP)-Institut National de la Santé et de la Recherche Médicale (INSERM), and Institut Pasteur [Paris]-Institut National de la Santé et de la Recherche Médicale (INSERM)
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[SDV.MHEP.HEM]Life Sciences [q-bio]/Human health and pathology/Hematology ,ComputingMilieux_MISCELLANEOUS - Abstract
International audience
- Published
- 1995
27. Analyse moléculaire de chèvres 60, XX pseudohermaphrodite sans corne pour la présence de gènes SRY et ZFY
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Pailhoux, Eric, CRIBIU, E.P., Chaffaux, Stéphane, Darré, Roland, Fellous, Marc, Cotinot, Corinne, ProdInra, Migration, Unité de biologie cellulaire et moléculaire, Institut National de la Recherche Agronomique (INRA), Unité de recherche Génétique Biochimique et Cytogénétique (LGBC), Cytogénétique des Populations Animales (CPA), Institut National de la Recherche Agronomique (INRA)-Ecole Nationale Vétérinaire de Toulouse (ENVT), Institut National Polytechnique (Toulouse) (Toulouse INP), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Institut National Polytechnique (Toulouse) (Toulouse INP), and Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées
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[SDV] Life Sciences [q-bio] ,[SDV]Life Sciences [q-bio] ,ComputingMilieux_MISCELLANEOUS - Abstract
International audience
- Published
- 1994
28. Sex determination : genetic control
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Cotinot, Corinne, Mc Elreavey, K., Fellous, Marc, ProdInra, Migration, C. Thibault (Editeur), M.C. Levasseur (Editeur), R.H.F. Hunter (Editeur), Unité de biologie cellulaire et moléculaire, and Institut National de la Recherche Agronomique (INRA)
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[SDV] Life Sciences [q-bio] ,[SDV]Life Sciences [q-bio] - Abstract
chap. 12; International audience
- Published
- 1993
29. La determination du sexe dans l'espece humaine
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Richaud, F., McElreavey, K., Vilain, E., Abbas, N., Cotinot, Corinne, Boucekkine, C., Fellous, Marc, Unité de biologie cellulaire et moléculaire, and Institut National de la Recherche Agronomique (INRA)
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[SDV]Life Sciences [q-bio] ,ComputingMilieux_MISCELLANEOUS - Abstract
National audience
- Published
- 1992
30. Diagnostic du sexe des embryons bovins par biologie moleculaire
- Author
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Kirszenbaum, M., Cotinot, Corinne, Leonard, Marie, VAIMAN, M., Fellous, Marc, ProdInra, Migration, Unité de biologie cellulaire et moléculaire, and Institut National de la Recherche Agronomique (INRA)
- Subjects
[SDV] Life Sciences [q-bio] ,[SDV]Life Sciences [q-bio] ,AMPLIFICATION CHAINE POLYMERASE ,BIOLOGIE MOLECULAIRE - Abstract
Supplement; National audience
- Published
- 1990
31. Cloning and characterization of bovine Y-derived sequences
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Cotinot, Corinne, Kirszenbaum, M., Bishop, C., VAIMAN, M., Fellous, Marc, Unité de recherches de Physiologie animale (JOUY PHYSIO A), Institut National de la Recherche Agronomique (INRA), and ProdInra, Migration
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[SDV] Life Sciences [q-bio] ,[SDV]Life Sciences [q-bio] ,BOVINS ,ComputingMilieux_MISCELLANEOUS - Abstract
International audience
- Published
- 1987
32. Le sexage des embryons : vers une modification du sex ratio ?
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Cotinot, Corinne, Kirzenbaum, M., Vaiman, M., Fellous, Marc, Unité de recherches de Physiologie animale (JOUY PHYSIO A), Institut National de la Recherche Agronomique (INRA), and ProdInra, Migration
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[SDV] Life Sciences [q-bio] ,[SDV]Life Sciences [q-bio] ,ComputingMilieux_MISCELLANEOUS - Abstract
National audience
- Published
- 1988
33. Le choix du sexe. La selection des spermatozoides
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Kirszenbaum, M., Cotinot, Corinne, Fellous, Marc, Unité de recherches de Physiologie animale (JOUY PHYSIO A), Institut National de la Recherche Agronomique (INRA), Laboratoire de radiobiologie et d'étude du génome (LREG), Institut National de la Recherche Agronomique (INRA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA), G. Arvis (Editeur), Unité de biologie cellulaire et moléculaire, Y. Englert, J.F. Guerin, P. Jouannet, ProdInra, Migration, and Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Institut National de la Recherche Agronomique (INRA)
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[SDV] Life Sciences [q-bio] ,[SDV]Life Sciences [q-bio] ,ComputingMilieux_MISCELLANEOUS - Abstract
chap. 18; National audience
- Published
- 1988
34. Sexing of bovine embryos using male-specific nucleic acid probes
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Vaiman, M., Cotinot, Corinne, Kirszenbaum, M., Leonard, Marie, Chesne, P., Heyman, Yvan, Stinnakre, M.G., Bishop, C., Fellous, Marc, ProdInra, Migration, Unité de recherches de Physiologie animale (JOUY PHYSIO A), and Institut National de la Recherche Agronomique (INRA)
- Subjects
[SDV] Life Sciences [q-bio] ,[SDV]Life Sciences [q-bio] ,SONDE D'ADN ,ComputingMilieux_MISCELLANEOUS - Abstract
National audience
- Published
- 1988
35. Characterization of human XX males and sexing of cattle embryos using Y-specific DNA sequences
- Author
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Casanova, Marie, Cotinot, Corinne, Kirszenbaum, M., Abbas, N., Bishop, C., Fellous, Marc, Unité de biologie cellulaire et moléculaire, Institut National de la Recherche Agronomique (INRA), Laboratoire de radiobiologie et d'étude du génome (LREG), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Institut National de la Recherche Agronomique (INRA), ProdInra, Migration, and Institut National de la Recherche Agronomique (INRA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)
- Subjects
[SDV] Life Sciences [q-bio] ,[SDV]Life Sciences [q-bio] ,ComputingMilieux_MISCELLANEOUS - Abstract
chap. 27; International audience
- Published
- 1987
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