Search

Your search keyword '"Vicaire, Serge"' showing total 23 results
Start Over Author "Vicaire, Serge"
23 results on '"Vicaire, Serge"'

1. Blepharocheilodontic syndrome is a CDH1 pathway–related disorder due to mutations in CDH1 and CTNND1

Author

Ghoumid, Jamal, Stichelbout, Morgane, Jourdain, Anne-Sophie, Frenois, Frederic, Lejeune-Dumoulin, Sophie, Alex-Cordier, Marie-Pierre, Lebrun, Marine, Guerreschi, Pierre, Duquennoy-Martinot, Veronique, Vinchon, Matthieu, Ferri, Joel, Jung, Matthieu, Vicaire, Serge, Vanlerberghe, Clemence, Escande, Fabienne, Petit, Florence, and Manouvrier-Hanu, Sylvie

Published
2017
Full Text
View/download PDF

2. A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement

Author

Prasad, Megana K, Geoffroy, Véronique, Vicaire, Serge, Jost, Bernard, Dumas, Michael, Le Gras, Stéphanie, Switala, Marzena, Gasse, Barbara, Laugel-Haushalter, Virginie, Paschaki, Marie, Leheup, Bruno, Droz, Dominique, Dalstein, Amelie, Loing, Adeline, Grollemund, Bruno, Muller-Bolla, Michèle, Lopez-Cazaux, Séréna, Minoux, Maryline, Jung, Sophie, Obry, Frédéric, Vogt, Vincent, Davideau, Jean-Luc, Davit-Beal, Tiphaine, Kaiser, Anne-Sophie, Moog, Ute, Richard, Béatrice, Morrier, Jean-Jacques, Duprez, Jean-Pierre, Odent, Sylvie, Bailleul-Forestier, Isabelle, Rousset, Monique Marie, Merametdijan, Laure, Toutain, Annick, Joseph, Clara, Giuliano, Fabienne, Dahlet, Jean-Christophe, Courval, Aymeric, El Alloussi, Mustapha, Laouina, Samir, Soskin, Sylvie, Guffon, Nathalie, Dieux, Anne, Doray, Bérénice, Feierabend, Stephanie, Ginglinger, Emmanuelle, Fournier, Benjamin, de la Dure Molla, Muriel, Alembik, Yves, Tardieu, Corinne, Clauss, François, Berdal, Ariane, Stoetzel, Corinne, Manière, Marie Cécile, Dollfus, Hélène, and Bloch-Zupan, Agnès

Published
2016
Full Text
View/download PDF

4. Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing

Author

Redin, Claire, Gérard, Bénédicte, Lauer, Julia, Herenger, Yvan, Muller, Jean, Quartier, Angélique, Masurel-Paulet, Alice, Willems, Marjolaine, Lesca, Gaétan, El-Chehadeh, Salima, Le Gras, Stéphanie, Vicaire, Serge, Philipps, Muriel, Dumas, Michaël, Geoffroy, Véronique, Feger, Claire, Haumesser, Nicolas, Alembik, Yves, Barth, Magalie, Bonneau, Dominique, Colin, Estelle, Dollfus, Hélène, Doray, Bérénice, Delrue, Marie-Ange, Drouin-Garraud, Valérie, Flori, Elisabeth, Fradin, Mélanie, Francannet, Christine, Goldenberg, Alice, Lumbroso, Serge, Mathieu-Dramard, Michèle, Martin-Coignard, Dominique, Lacombe, Didier, Morin, Gilles, Polge, Anne, Sukno, Sylvie, Thauvin-Robinet, Christel, Thevenon, Julien, Doco-Fenzy, Martine, Genevieve, David, Sarda, Pierre, Edery, Patrick, Isidor, Bertrand, Jost, Bernard, Olivier-Faivre, Laurence, Mandel, Jean-Louis, and Piton, Amélie

Published
2014
Full Text
View/download PDF

5. Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome

Author

Stoetzel, Corrine, Muller, Jean, Laurier, Virginie, Davis, Erica E., Zaghloul, Norann A., Vicaire, Serge, Jacquelin, Cecile, Plewniak, Frederic, Leitch, Carmen C., Sarda, Pierre, Hamel, Christian, De Ravel, Thomy J.L., Lewis, Richard Alan, Friederich, Evelyne, Thibault, Christelle, Danse, Jean-Marc, Verloes, Alain, Bonneau, Dominique, Katsanis, Nicholas, Poch, Olivier, Mandel, Jean-Louis, and Dollfus, Helene

Subjects
Bardet-Biedl syndrome -- Genetic aspects, Bardet-Biedl syndrome -- Research, Molecular chaperones -- Structure, Molecular chaperones -- Research, Single nucleotide polymorphisms -- Research, Biological sciences
Abstract

A novel Bardet-Biedl syndrome (BBS) gene BBS12 was identified by a combination of single-nucleotide polymorphism array homozygosity mapping with in silico analysis. The identification of BBS12, mutated in 5% of families with BBS, allowed the individualization of a novel branch of vertebrate-specific chaperonin-related proteins that account for one-third of the mutational load in patients with BBS.

Published
2007

6. Efficient cloning of cDNAs of retinoic acid-responsive genes in P19 embryonal carcinoma cells and characterization of a novel mouse gene, stra1 (Mouse LERK-2/Eplg2)

Author

Bouillet, Philippe, Oulad-Abdelghani, Mustapha, Vicaire, Serge, Garnier, Jean-Marie, Schuhbaur, Brigitte, Dolle, Pascal, and Chambon, Pierre

Subjects
Cloning -- Research, Tretinoin -- Research, Carcinoma in situ -- Analysis, Biological sciences
Abstract

An efficient differential subtractive hybridization cloning strategy has been developed to systematically isolate mouse genes whose expression is induced in P19 cells at different times following exposure to retinoic acid (RA). Fifty different cDNA fragments corresponding to RA-induced genes were isolated, of which 40 represent novel genes. Ten of the isolated cDNAs correspond to known genes, of which four have previously been identified as RA-inducible. One of the novel RA-inducible genes (Stra1) has been studied further, and it appears to correspond to a ligand for Cek5, a receptor protein-tyrosine kinase.

Published
1995

7. Additional file 1: Figures S1–S12 and Table S1. of The Arabidopsis SWI/SNF protein BAF60 mediates seedling growth control by modulating DNA accessibility

Author

Jégu, Teddy, Alaguraj Veluchamy, Ramirez-Prado, Juan, Rizzi-Paillet, Charley, Perez, Magalie, Lhomme, Anaïs, Latrasse, David, Coleno, Emeline, Vicaire, Serge, Legras, Stéphanie, Jost, Bernard, Rougée, Martin, Barneche, Fredy, Bergounioux, Catherine, Crespi, Martin, Magdy Mahfouz, Hirt, Heribert, Raynaud, Cécile, and Benhamed, Moussa

Abstract

(PPTX 5057 kb)

Published
2017
Full Text
View/download PDF

8. The Arabidopsis SWI/SNF protein BAF60 mediates seedling growth control by modulating DNA accessibility

Author

Jégu, Teddy, primary, Veluchamy, Alaguraj, additional, Ramirez-Prado, Juan S., additional, Rizzi-Paillet, Charley, additional, Perez, Magalie, additional, Lhomme, Anaïs, additional, Latrasse, David, additional, Coleno, Emeline, additional, Vicaire, Serge, additional, Legras, Stéphanie, additional, Jost, Bernard, additional, Rougée, Martin, additional, Barneche, Fredy, additional, Bergounioux, Catherine, additional, Crespi, Martin, additional, Mahfouz, Magdy M., additional, Hirt, Heribert, additional, Raynaud, Cécile, additional, and Benhamed, Moussa, additional

Published
2017
Full Text
View/download PDF

9. BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus

Author

Stoetzel, Corinne, Laurier, Virginie, Davis, Erica E, Muller, Jean, Rix, Suzanne, Badano, José L, Leitch, Carmen C, Salem, Nabiha, Chouery, Eliane, Corbani, Sandra, Jalk, Nadine, Vicaire, Serge, Sarda, Pierre, Hamel, Christian, Lacombe, Didier, Holder, Muriel, Odent, Sylvie, Holder, Susan, Brooks, Alice S, Elcioglu, Nursel H, Da Silva, Eduardo, Rossillion, Béatrice, Sigaudy, Sabine, de Ravel, Thomy J L, Lewis, Richard Alan, Leheup, Bruno, Verloes, Alain, Amati-Bonneau, Patrizia, Mégarbané, André, Poch, Olivier, Bonneau, Dominique, Beales, Philip L, Mandel, Jean-Louis, Katsanis, Nicholas, Dollfus, Hélène, Institut de génétique et biologie moléculaire et cellulaire (IGBMC), Université Louis Pasteur - Strasbourg I-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Service de génétique médicale, CHU Strasbourg-Hôpital de Hautepierre [Strasbourg], Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Louis Pasteur - Strasbourg I, Chaire Génétique Humaine, Collège de France (CdF (institution)), Clinical Genetics, Clinical sciences, Medical Genetics, and Institute for European Studies

Subjects
BBS2, congenital, hereditary, and neonatal diseases and abnormalities, MESH: Mutation, BBS1, BBS7, Locus (genetics), Biology, 03 medical and health sciences, 0302 clinical medicine, Bardet–Biedl syndrome, MESH: Bardet-Biedl Syndrome, Genetics, medicine, Humans, MESH: Proteins, Bardet-Biedl Syndrome, MESH: Cohort Studies, 030304 developmental biology, 0303 health sciences, MESH: Humans, Proteins, Oligogenic Inheritance, [SDV.BBM.BM]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular biology, medicine.disease, Ciliopathy, Proteins/genetics, Cohort studies, BBS12, mutation, Bardet-Biedl Syndrome/genetics, 030217 neurology & neurosurgery
Abstract

International audience; Bardet-Biedl syndrome (BBS) is a genetically heterogeneous ciliopathy. Although nine BBS genes have been cloned, they explain only 40-50% of the total mutational load. Here we report a major new BBS locus, BBS10, that encodes a previously unknown, rapidly evolving vertebrate-specific chaperonin-like protein. We found BBS10 to be mutated in about 20% of an unselected cohort of families of various ethnic origins, including some families with mutations in other BBS genes, consistent with oligogenic inheritance. In zebrafish, mild suppression of bbs10 exacerbated the phenotypes of other bbs morphants.

Published
2006

10. Splicing misregulation of SCN5A contributes to cardiac-conduction delay and heart arrhythmia in myotonic dystrophy

Author

Freyermuth, Fernande, primary, Rau, Frédérique, additional, Kokunai, Yosuke, additional, Linke, Thomas, additional, Sellier, Chantal, additional, Nakamori, Masayuki, additional, Kino, Yoshihiro, additional, Arandel, Ludovic, additional, Jollet, Arnaud, additional, Thibault, Christelle, additional, Philipps, Muriel, additional, Vicaire, Serge, additional, Jost, Bernard, additional, Udd, Bjarne, additional, Day, John W., additional, Duboc, Denis, additional, Wahbi, Karim, additional, Matsumura, Tsuyoshi, additional, Fujimura, Harutoshi, additional, Mochizuki, Hideki, additional, Deryckere, François, additional, Kimura, Takashi, additional, Nukina, Nobuyuki, additional, Ishiura, Shoichi, additional, Lacroix, Vincent, additional, Campan-Fournier, Amandine, additional, Navratil, Vincent, additional, Chautard, Emilie, additional, Auboeuf, Didier, additional, Horie, Minoru, additional, Imoto, Keiji, additional, Lee, Kuang-Yung, additional, Swanson, Maurice S., additional, de Munain, Adolfo Lopez, additional, Inada, Shin, additional, Itoh, Hideki, additional, Nakazawa, Kazuo, additional, Ashihara, Takashi, additional, Wang, Eric, additional, Zimmer, Thomas, additional, Furling, Denis, additional, Takahashi, Masanori P., additional, and Charlet-Berguerand, Nicolas, additional

Published
2016
Full Text
View/download PDF

11. A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement

Author

Prasad, Megana K, primary, Geoffroy, Véronique, additional, Vicaire, Serge, additional, Jost, Bernard, additional, Dumas, Michael, additional, Le Gras, Stéphanie, additional, Switala, Marzena, additional, Gasse, Barbara, additional, Laugel-Haushalter, Virginie, additional, Paschaki, Marie, additional, Leheup, Bruno, additional, Droz, Dominique, additional, Dalstein, Amelie, additional, Loing, Adeline, additional, Grollemund, Bruno, additional, Muller-Bolla, Michèle, additional, Lopez-Cazaux, Séréna, additional, Minoux, Maryline, additional, Jung, Sophie, additional, Obry, Frédéric, additional, Vogt, Vincent, additional, Davideau, Jean-Luc, additional, Davit-Beal, Tiphaine, additional, Kaiser, Anne-Sophie, additional, Moog, Ute, additional, Richard, Béatrice, additional, Morrier, Jean-Jacques, additional, Duprez, Jean-Pierre, additional, Odent, Sylvie, additional, Bailleul-Forestier, Isabelle, additional, Rousset, Monique Marie, additional, Merametdijan, Laure, additional, Toutain, Annick, additional, Joseph, Clara, additional, Giuliano, Fabienne, additional, Dahlet, Jean-Christophe, additional, Courval, Aymeric, additional, El Alloussi, Mustapha, additional, Laouina, Samir, additional, Soskin, Sylvie, additional, Guffon, Nathalie, additional, Dieux, Anne, additional, Doray, Bérénice, additional, Feierabend, Stephanie, additional, Ginglinger, Emmanuelle, additional, Fournier, Benjamin, additional, de la Dure Molla, Muriel, additional, Alembik, Yves, additional, Tardieu, Corinne, additional, Clauss, François, additional, Berdal, Ariane, additional, Stoetzel, Corinne, additional, Manière, Marie Cécile, additional, Dollfus, Hélène, additional, and Bloch-Zupan, Agnès, additional

Published
2015
Full Text
View/download PDF

13. The ArabidopsisSWI/SNF protein BAF60 mediates seedling growth control by modulating DNA accessibility

Author

Jégu, Teddy, Veluchamy, Alaguraj, Ramirez-Prado, Juan, Rizzi-Paillet, Charley, Perez, Magalie, Lhomme, Anaïs, Latrasse, David, Coleno, Emeline, Vicaire, Serge, Legras, Stéphanie, Jost, Bernard, Rougée, Martin, Barneche, Fredy, Bergounioux, Catherine, Crespi, Martin, Mahfouz, Magdy, Hirt, Heribert, Raynaud, Cécile, and Benhamed, Moussa

Abstract

Plant adaptive responses to changing environments involve complex molecular interplays between intrinsic and external signals. Whilst much is known on the signaling components mediating diurnal, light, and temperature controls on plant development, their influence on chromatin-based transcriptional controls remains poorly explored. In this study we show that a SWI/SNF chromatin remodeler subunit, BAF60, represses seedling growth by modulating DNA accessibility of hypocotyl cell size regulatory genes. BAF60 binds nucleosome-free regions of multiple G box-containing genes, opposing in cisthe promoting effect of the photomorphogenic and thermomorphogenic regulator Phytochrome Interacting Factor 4 (PIF4) on hypocotyl elongation. Furthermore, BAF60expression level is regulated in response to light and daily rhythms. These results unveil a short path between a chromatin remodeler and a signaling component to fine-tune plant morphogenesis in response to environmental conditions.

Published
2017
Full Text
View/download PDF

15. Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome.

Author

Stoetzel, Corinne, Muller, Jean, Laurier, Virginie, Davis, Erica E., Zaghloul, Norann A., Vicaire, Serge, Jacquelin, Cecile, Plewniak, Frederic, Leitch, Carmen C., Sarda, Pierre, Hamel, Christian, de Ravel, Thomy J. L., Lewis, Richard Alan, Friederich, Evelyne, Thibault, Christelle, Danse, Jean-Marc, Verloes, Alain, Bonneau, Dominique, Katsanis, Nicholas, Poch, Olivier, Mandel, Jean-Louis, Dollfus, Helene, Stoetzel, Corinne, Muller, Jean, Laurier, Virginie, Davis, Erica E., Zaghloul, Norann A., Vicaire, Serge, Jacquelin, Cecile, Plewniak, Frederic, Leitch, Carmen C., Sarda, Pierre, Hamel, Christian, de Ravel, Thomy J. L., Lewis, Richard Alan, Friederich, Evelyne, Thibault, Christelle, Danse, Jean-Marc, Verloes, Alain, Bonneau, Dominique, Katsanis, Nicholas, Poch, Olivier, Mandel, Jean-Louis, and Dollfus, Helene

Abstract

Bardet-Biedl syndrome (BBS) is primarily an autosomal recessive ciliopathy characterized by progressive retinal degeneration, obesity, cognitive impairment, polydactyly, and kidney anomalies. The disorder is genetically heterogeneous, with 11 BBS genes identified to date, which account for ~70% of affected families. We have combined single-nucleotide-polymorphism array homozygosity mapping with in silico analysis to identify a new BBS gene, BBS12. Patients from two Gypsy families were homozygous and haploidentical in a 6-Mb region of chromosome 4q27. FLJ35630 was selected as a candidate gene, because it was predicted to encode a protein with similarity to members of the type II chaperonin superfamily, which includes BBS6 and BBS10. We found pathogenic mutations in both Gypsy families, as well as in 14 other families of various ethnic backgrounds, indicating that BBS12 accounts for approximately 5% of all BBS cases. BBS12 is vertebrate specific and, together with BBS6 and BBS10, defines a novel branch of the type II chaperonin superfamily. These three genes are characterized by unusually rapid evolution and are likely to perform ciliary functions specific to vertebrates that are important in the pathophysiology of the syndrome, and together they account for about one-third of the total BBS mutational load. Consistent with this notion, suppression of each family member in zebrafish yielded gastrulation-movement defects characteristic of other BBS morphants, whereas simultaneous suppression of all three members resulted in severely affected embryos, possibly hinting at partial functional redundancy within this protein family.

Published
2007
Full Text
View/download PDF

16. Erratum: Corrigendum: BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus

Author

Stoetzel, Corinne, primary, Laurier, Virginie, additional, Davis, Erica E, additional, Muller, Jean, additional, Rix, Suzanne, additional, Badano, José L, additional, Leitch, Carmen C, additional, Salem, Nabiha, additional, Chouery, Eliane, additional, Corbani, Sandra, additional, Jalk, Nadine, additional, Vicaire, Serge, additional, Sarda, Pierre, additional, Hamel, Christian, additional, Lacombe, Didier, additional, Holder, Muriel, additional, Odent, Sylvie, additional, Holder, Susan, additional, Brooks, Alice S, additional, Elcioglu, Nursel H, additional, Silva, Eduardo D, additional, Rossillion, Béatrice, additional, Sigaudy, Sabine, additional, de Ravel, Thomy J L, additional, Lewis, Richard Alan, additional, Leheup, Bruno, additional, Verloes, Alain, additional, Amati-Bonneau, Patrizia, additional, Mégarbané, André, additional, Poch, Olivier, additional, Bonneau, Dominique, additional, Beales, Philip L, additional, Mandel, Jean-Louis, additional, Katsanis, Nicholas, additional, and Dollfus, Hélène, additional

Published
2006
Full Text
View/download PDF

17. The Arabidopsis SWI/SNF protein BAF60 mediates seedling growth control by modulating DNA accessibility

Author

Jégu, Teddy, Veluchamy, Alaguraj, Ramirez-Prado, Juan S., Rizzi-Paillet, Charley, Perez, Magalie, Lhomme, Anaïs, Latrasse, David, Coleno, Emeline, Vicaire, Serge, Legras, Stéphanie, Jost, Bernard, Rougée, Martin, Barneche, Fredy, Bergounioux, Catherine, Crespi, Martin, Mahfouz, Magdy M., Hirt, Heribert, Raynaud, Cécile, and Benhamed, Moussa

Subjects
SWI/SNF, Chromatin, Morphogenesis, Phytochrome Interacting Factor, G-box, DNA accessibility, PIF4
Abstract

Background: Plant adaptive responses to changing environments involve complex molecular interplays between intrinsic and external signals. Whilst much is known on the signaling components mediating diurnal, light, and temperature controls on plant development, their influence on chromatin-based transcriptional controls remains poorly explored. Results: In this study we show that a SWI/SNF chromatin remodeler subunit, BAF60, represses seedling growth by modulating DNA accessibility of hypocotyl cell size regulatory genes. BAF60 binds nucleosome-free regions of multiple G box-containing genes, opposing in cis the promoting effect of the photomorphogenic and thermomorphogenic regulator Phytochrome Interacting Factor 4 (PIF4) on hypocotyl elongation. Furthermore, BAF60 expression level is regulated in response to light and daily rhythms. Conclusions: These results unveil a short path between a chromatin remodeler and a signaling component to fine-tune plant morphogenesis in response to environmental conditions. Electronic supplementary material The online version of this article (doi:10.1186/s13059-017-1246-7) contains supplementary material, which is available to authorized users.

Published
2017
Full Text
View/download PDF

18. Lir-2, lir-1 and lin-26 encode a new class of zinc-finger proteins and are organized in two overlapping operons both in Caenorhabditis elegans and in Caenorhabditis briggsae

Author

Dufourcq, Pascale, Chanal, Philippe, Vicaire, Serge, Camut, Elise, Quintin, Sophie, den Boer, Bart G.W., Bosher, Julia M., and Labouesse, Michel

Subjects
Nematoda -- Genetic aspects, Caenorhabditis elegans -- Genetic aspects, Gene expression -- Research, Genetic transcription -- Regulation, Operons -- Research, Genetic regulation -- Research, DNA binding proteins -- Research, Biological sciences
Abstract

lin-26, which encodes a unique Zn-finger protein, is required for differentiation of nonneuronal ectodermal cells in Caenorhabditis elegans. Here, we show that the two genes located immediately upstream of lin-26 encode LIN-26-like Zn-finger proteins; hence their names are lir-1 and lir-2 (lin-26 related). lir-2, lir-1, and lin-26 generate several isoforms by alternative splicing and/or trans-splicing at different positions. On the basis of their trans-splicing pattern, their intergenic distances, and their expression, we suggest that lir-2, lir-1, and lin-26 form two overlapping transcriptional operons. The first operon, which is expressed in virtually all cells, includes lir-2 and long lir-1 isoforms. The second operon, which is expressed in the nonneuronal ectoderm, includes short lir-1 isoforms, starting at exon 2 and lin-26. This unusual genomic organization has been conserved in C. briggsae, as shown by cloning the C. briggsae lir-2, lir-1, and lin-26 homologs. Particularly striking is the sequence conservation throughout the first lir-1 intron, which is very long in both species. Structural conservation is functionally meaningful as C. briggsae lin-26 is also expressed in the nonneuronal ectoderm and can complement a C. elegans lin-26 null mutation.

Published
1999

21. Genomic Organization of the Adrenoleukodystrophy Gene

Author

Sarde, Claude-Olivier, primary, Mosser, Jean, additional, Kioschis, Petra, additional, Kretz, Christine, additional, Vicaire, Serge, additional, Aubourg, Patrick, additional, Poustka, Annemarie, additional, and Mandel, Jean-Louis, additional

Published
1994
Full Text
View/download PDF

Catalog

Books, media, physical & digital resources
See catalog results