17 results on '"Legallic, Solenn"'
Search Results
2. Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus
- Author
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Jacquemont, Sébastien, Reymond, Alexandre, Zufferey, Flore, Harewood, Louise, Walters, Robin G., Kutalik, Zoltán, Martinet, Danielle, Shen, Yiping, Valsesia, Armand, Beckmann, Noam D., Thorleifsson, Gudmar, Belfiore, Marco, Bouquillon, Sonia, Campion, Dominique, de Leeuw, Nicole, de Vries, Bert B. A., Esko, Tõnu, Fernandez, Bridget A., Fernández-Aranda, Fernando, Fernández-Real, José Manuel, Gratacòs, Mònica, Guilmatre, Audrey, Hoyer, Juliane, Jarvelin, Marjo-Riitta, Kooy, Frank R., Kurg, Ants, Le Caignec, Cédric, Männik, Katrin, Platt, Orah S., Sanlaville, Damien, Van Haelst, Mieke M., Gomez, Sergi Villatoro, Walha, Faida, Wu, Bai-lin, Yu, Yongguo, Aboura, Azzedine, Addor, Marie-Claude, Alembik, Yves, Antonarakis, Stylianos E., Arveiler, Benoît, Barth, Magalie, Bednarek, Nathalie, Béna, Frédérique, Bergmann, Sven, Beri, Mylène, Bernardini, Laura, Blaumeiser, Bettina, Bonneau, Dominique, Bottani, Armand, Boute, Odile, Brunner, Han G., Cailley, Dorothée, Callier, Patrick, Chiesa, Jean, Chrast, Jacqueline, Coin, Lachlan, Coutton, Charles, Cuisset, Jean-Marie, Cuvellier, Jean-Christophe, David, Albert, de Freminville, Bénédicte, Delobel, Bruno, Delrue, Marie-Ange, Demeer, Bénédicte, Descamps, Dominique, Didelot, Gérard, Dieterich, Klaus, Disciglio, Vittoria, Doco-Fenzy, Martine, Drunat, Séverine, Duban-Bedu, Bénédicte, Dubourg, Christèle, Moustafa, Julia S. El-Sayed, Elliott, Paul, Faas, Brigitte H. W., Faivre, Laurence, Faudet, Anne, Fellmann, Florence, Ferrarini, Alessandra, Fisher, Richard, Flori, Elisabeth, Forer, Lukas, Gaillard, Dominique, Gerard, Marion, Gieger, Christian, Gimelli, Stefania, Gimelli, Giorgio, Grabe, Hans J., Guichet, Agnès, Guillin, Olivier, Hartikainen, Anna-Liisa, Heron, Délphine, Hippolyte, Loyse, Holder, Muriel, Homuth, Georg, Isidor, Bertrand, Jaillard, Sylvie, Jaros, Zdenek, Jiménez-Murcia, Susana, Helas, Géraldine Joly, Jonveaux, Philippe, Kaksonen, Satu, Keren, Boris, Kloss-Brandstätter, Anita, Knoers, Nine V. A. M., Koolen, David A., Kroisel, Peter M., Kronenberg, Florian, Labalme, Audrey, Landais, Emilie, Lapi, Elisabetta, Layet, Valérie, Legallic, Solenn, Leheup, Bruno, Leube, Barbara, Lewis, Suzanne, Lucas, Josette, MacDermot, Kay D., Magnusson, Pall, Marshall, Christian, Mathieu-Dramard, Michèle, McCarthy, Mark I., Meitinger, Thomas, Mencarelli, Maria Antonietta, Merla, Giuseppe, Moerman, Alexandre, Mooser, Vincent, Morice-Picard, Fanny, Mucciolo, Mafalda, Nauck, Matthias, Ndiaye, Ndeye Coumba, Nordgren, Ann, Pasquier, Laurent, Petit, Florence, Pfundt, Rolph, Plessis, Ghislaine, Rajcan-Separovic, Evica, Ramelli, Gian Paolo, Rauch, Anita, Ravazzolo, Roberto, Reis, Andre, Renieri, Alessandra, Richart, Cristobal, Ried, Janina S., Rieubland, Claudine, Roberts, Wendy, Roetzer, Katharina M., Rooryck, Caroline, Rossi, Massimiliano, Saemundsen, Evald, Satre, Véronique, Schurmann, Claudia, Sigurdsson, Engilbert, Stavropoulos, Dimitri J., Stefansson, Hreinn, Tengström, Carola, Thorsteinsdóttir, Unnur, Tinahones, Francisco J., Touraine, Renaud, Vallée, Louis, van Binsbergen, Ellen, Van der Aa, Nathalie, Vincent-Delorme, Catherine, Visvikis-Siest, Sophie, Vollenweider, Peter, Völzke, Henry, Vulto-van Silfhout, Anneke T., Waeber, Gérard, Wallgren-Pettersson, Carina, Witwicki, Robert M., Zwolinksi, Simon, Andrieux, Joris, Estivill, Xavier, Gusella, James F., Gustafsson, Omar, Metspalu, Andres, Scherer, Stephen W., Stefansson, Kari, Blakemore, Alexandra I. F., Beckmann, Jacques S., and Froguel, Philippe
- Published
- 2011
- Full Text
- View/download PDF
3. Type I Hyperprolinemia: Genotype/Phenotype Correlations
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Guilmatre, Audrey, Legallic, Solenn, Steel, Gary, Willis, Alecia, Rosa, Gabriella Di, Goldenberg, Alice, Drouin-Garraud, Valérie, Guet, Agnès, Mignot, Cyril, Portes, Vincent Des, Valayannopoulos, Vassili, Van Maldergem, Lionel, Hoffman, Jodi D., Izzi, Claudia, Espil-Taris, Caroline, Orcesi, Simona, Bonafé, Luisa, Le Galloudec, Eric, Maurey, Hélène, Ioos, Christine, Afenjar, Alexandra, Blanchet, Patricia, Echenne, Bernard, Roubertie, Agathe, Frebourg, Thierry, Valle, David, and Campion, Dominique
- Published
- 2010
- Full Text
- View/download PDF
4. Involvement of hyperprolinemia in cognitive and psychiatric features of the 22q11 deletion syndrome
- Author
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Raux, Grégory, Bumsel, Emilie, Hecketsweiler, Bernadette, van Amelsvoort, Therese, Zinkstok, Janneke, Manouvrier-Hanu, Sylvie, Fantini, Carole, Brévière, Georges-Marie M., Di Rosa, Gabriella, Pustorino, Giuseppina, Vogels, Annick, Swillen, Ann, Legallic, Solenn, Bou, Jacqueline, Opolczynski, Gaelle, Drouin-Garraud, Valérie, Lemarchand, Marie, Philip, Nicole, Gérard-Desplanches, Aude, Carlier, Michèle, Philippe, Anne, Nolen, Marie Christine, Heron, Delphine, Sarda, Pierre, Lacombe, Didier, Coizet, Cyril, Alembik, Yves, Layet, Valérie, Afenjar, Alexandra, Hannequin, Didier, Demily, Caroline, Petit, Michel, Thibaut, Florence, Frebourg, Thierry, and Campion, Dominique
- Published
- 2007
5. Identification, par criblage génomique à haut débit, de Variations du Nombre de Copies impliquées dans les formes précoces de Maladie d'Alzheimer
- Author
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Legallic, Solenn, École pratique des hautes études (EPHE), Université Paris sciences et lettres (PSL), Génétique médicale et fonctionnelle du cancer et des maladies neuropsychiatriques, Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM), and HAL-EPHE, Admin
- Subjects
CGH-array ,[SDV.GEN]Life Sciences [q-bio]/Genetics ,peptide Aβ ,QMPSF ,[SDV.BBM.BM]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular biology ,[SDV.GEN] Life Sciences [q-bio]/Genetics ,variations du nombre de copies ,[SDV.BBM.BM] Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular biology ,maladie d’Alzheimer à début précoce - Abstract
L’étude des formes rares de maladie d’Alzheimer (MA) s’est avérée être une stratégie utile dans l’identification de gènes impliqués dans le déterminisme de la MA. Cette stratégie a permis d’identifier les mutations des gènes APP, PSEN1 et PSEN2 dans 77% des formes autosomiques dominantes à début précoce de MA (ADEOAD). Les variations du nombre de copies (CNVs) sont définies comme « des segments d’ADN d’au moins 1 kb pour lesquels des différences du nombre de copies ont été identifiées par comparaison entre deux génomes ». On estime à ce jour que plus de 30% des gènes sont soumis à des CNVs, et qu’un individu sur 10 porte un CNV de novo. Dans ce cadre, nous avons émis l’hypothèse que des variations du nombre de copies (CNVs) rares pouvaient être à l’origine de la pathologie chez certaines familles ADEOAD sans mutation identifiée dans les gènes connus, de même que chez des cas rares de MA sporadique à début précoce. En utilisant l’hybridation génomique comparative à haute-résolution, nous avons recherché la présence des CNVs rares chez 21 cas ADEOAD non-apparentés, sans altération sur les gènes connus, et 12 cas de MA sporadique, avec un âge de début avant 55 ans.Les analyses ont révélé la présence de 7 CNVs uniques (4 chez les ADEOAD et 3 chez les cas isolés) non retrouvés chez 1078 contrôles et 912 cas de MA à début tardif.De façon intéressante, 4 de ces 7 réarrangements touchent des gènes (KLK6, SLC30A3, MEOX2, and FPR2) codant des protéines fortement associées aux voies métaboliques et de signalisation du peptide β-amyloïde.Bien que ces CNVs soient des variants individuels rares et associés à des sous-groupes particuliers de patients, ces résultats renforcent le rôle causal, dans la MA, d’un groupe de gènes codant des molécules suspectées de longue date, de modifier le métabolisme ou la signalisation de l’Aβ, et pour lesquels des modèles animaux ou cellulaires ont déjà été développés.
- Published
- 2012
6. A genome-wide study reveals rare CNVs exclusive to extreme phenotypes of Alzheimer disease
- Author
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Rovelet-Lecrux, Anne, Legallic, Solenn, Wallon, David, Flaman, Jean-Michel, Martinaud, Olivier, Bombois, Stéphanie, Rollin-Sillaire, Adeline, Michon, Agnès, Le Ber, Isabelle, Pariente, Jérémie, Puel, Michèle, Paquet, Claire, Croisile, Bernard, Thomas-Antérion, Catherine, Vercelletto, Martine, Lévy, Richard, Frébourg, Thierry, Hannequin, Didier, Campion, Dominique, Renseigné, Non, Moreaud, Olivier, Service de neurologie [Rouen], CHU Rouen, Normandie Université (NU)-Normandie Université (NU), Génétique médicale et fonctionnelle du cancer et des maladies neuropsychiatriques, Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Normandie Université (NU), Centre de Recherche Jean-Pierre AUBERT Neurosciences et Cancer - U837 (JPArc), Université Lille Nord de France (COMUE)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lille, Centre de Recherche de l'Institut du Cerveau et de la Moelle épinière (CRICM), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Imagerie cérébrale et handicaps neurologiques (ICHN), Institut des sciences du cerveau de Toulouse. (ISCT), Université Toulouse - Jean Jaurès (UT2J), Université de Toulouse (UT)-Université de Toulouse (UT)-Université Toulouse III - Paul Sabatier (UT3), Université de Toulouse (UT)-Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Toulouse - Jean Jaurès (UT2J), Université de Toulouse (UT)-Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM), Neurologie générale et maladies inflammatoires du système nerveux [Toulouse], Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Institut du Fer à Moulin, Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM), Département de Neurologie, Hopital Neurologique, Bron, Centre de Mémoire de Ressource et Recherche (CMRR), Centre Hospitalier Universitaire de Saint-Etienne [CHU Saint-Etienne] (CHU ST-E), Service de neurologie [Nantes], Université de Nantes (UN)-Centre hospitalier universitaire de Nantes (CHU Nantes)-Hôpital Guillaume-et-René-Laennec [Saint-Herblain], Neuro-anatomie fonctionnelle du comportement et de ses troubles, Université Pierre et Marie Curie - Paris 6 (UPMC)-IFR70-Institut National de la Santé et de la Recherche Médicale (INSERM), Génétique du cancer et des maladies neuropsychiatriques (GMFC), Normandie Université (NU)-Normandie Université (NU)-Université de Rouen Normandie (UNIROUEN), Laboratoire de Psychologie et NeuroCognition (LPNC), Université Pierre Mendès France - Grenoble 2 (UPMF)-Université Joseph Fourier - Grenoble 1 (UJF)-Université Savoie Mont Blanc (USMB [Université de Savoie] [Université de Chambéry])-Centre National de la Recherche Scientifique (CNRS), Unité de Neuropsychologie, CHU Grenoble, Centre de Recherche Jean-Pierre AUBERT Neurosciences et Cancer - U1172 Inserm - U837 (JPArc), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Lille Nord de France (COMUE)-Université de Lille, Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Pierre et Marie Curie - Paris 6 (UPMC), Université Toulouse - Jean Jaurès (UT2J)-Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-CHU Toulouse [Toulouse]-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Toulouse - Jean Jaurès (UT2J)-Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-CHU Toulouse [Toulouse]-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM), Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-CHU Toulouse [Toulouse]-Hôpital Purpan [Toulouse], CHU Toulouse [Toulouse], CHU Saint-Etienne-Hôpital Bellevue, Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR70-Université Pierre et Marie Curie - Paris 6 (UPMC), and Centre National de la Recherche Scientifique (CNRS)-Université Pierre Mendès France - Grenoble 2 (UPMF)-Université Joseph Fourier - Grenoble 1 (UJF)-Université Savoie Mont Blanc (USMB [Université de Savoie] [Université de Chambéry])
- Subjects
Male ,MESH: Mutation ,DNA Copy Number Variations ,MESH: Age of Onset ,Genome-wide association study ,Biology ,medicine.disease_cause ,MESH: Phenotype ,Genome ,Article ,03 medical and health sciences ,Amyloid beta-Protein Precursor ,0302 clinical medicine ,MESH: Aged, 80 and over ,Alzheimer Disease ,MESH: Amyloid beta-Protein Precursor ,PSEN2 ,Genetics ,medicine ,PSEN1 ,Humans ,Copy-number variation ,Age of Onset ,Genetics (clinical) ,030304 developmental biology ,Aged ,Aged, 80 and over ,MESH: Aged ,0303 health sciences ,Mutation ,MESH: Middle Aged ,MESH: Humans ,Middle Aged ,medicine.disease ,Phenotype ,MESH: Male ,3. Good health ,MESH: Genome-Wide Association Study ,Female ,MESH: DNA Copy Number Variations ,[SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC] ,Alzheimer's disease ,MESH: Female ,030217 neurology & neurosurgery ,MESH: Alzheimer Disease ,Genome-Wide Association Study - Abstract
International audience; Studying rare extreme forms of Alzheimer disease (AD) may prove to be a useful strategy in identifying new genes involved in monogenic determinism of AD. Amyloid precursor protein (APP), PSEN1, and PSEN2 mutations account for only 85% of autosomal dominant early-onset AD (ADEOAD) families. We hypothesised that rare copy number variants (CNVs) could be involved in ADEOAD families without mutations in known genes, as well as in rare sporadic young-onset AD cases. Using high-resolution array comparative genomic hybridisation, we assessed the presence of rare CNVs in 21 unrelated ADEOAD cases, having no alteration on known genes, and 12 sporadic AD cases, with an age of onset younger than 55 years. The analysis revealed the presence of 7 singleton CNVs (4 in ADEOAD and 3 in sporadic cases) absent in 1078 controls and 912 late-onset AD cases. Strikingly, 4 out of 7 rearrangements target genes (KLK6, SLC30A3, MEOX2, and FPR2) encoding proteins that are tightly related to amyloid-β peptide metabolism or signalling. Although these variants are individually rare and restricted to particular subgroups of patients, these findings support the causal role, in human pathology, of a set of genes coding for molecules suspected for a long time to modify Aβ metabolism or signalling, and for which animal or cellular models have already been developed.
- Published
- 2012
7. Frontotemporal Dementia Phenotype Associated with MAPT Gene Duplication
- Author
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Rovelet-Lecrux, Anne, primary, Hannequin, Didier, additional, Guillin, Olivier, additional, Legallic, Solenn, additional, Jurici, Snejana, additional, Wallon, David, additional, Frebourg, Thierry, additional, and Campion, Dominique, additional
- Published
- 2010
- Full Text
- View/download PDF
8. Deletion of the progranulin gene in patients with frontotemporal lobar degeneration or Parkinson disease
- Author
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Rovelet-Lecrux, Anne, primary, Deramecourt, Vincent, additional, Legallic, Solenn, additional, Maurage, Claude-Alain, additional, Le Ber, Isabelle, additional, Brice, Alexis, additional, Lambert, Jean-Charles, additional, Frébourg, Thierry, additional, Hannequin, Didier, additional, Pasquier, Florence, additional, and Campion, Dominique, additional
- Published
- 2008
- Full Text
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9. No pathogenic rearrangement within the DISC 1 gene in psychosis
- Author
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Legallic, Solenn, primary, Bou, Jacqueline, additional, Haouzir, Sadeq, additional, Allio, Gabrielle, additional, Demily, Caroline, additional, Petit, Michel, additional, Frebourg, Thierry, additional, Thibaut, Florence, additional, and Campion, Dominique, additional
- Published
- 2008
- Full Text
- View/download PDF
10. Type I hyperprolinemia and proline dehydrogenase (PRODH) mutations in four Italian children with epilepsy and mental retardation
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Di Rosa, Gabriella, primary, Pustorino, Giuseppina, additional, Spano, Maria, additional, Campion, Dominique, additional, Calabrò, Marilena, additional, Aguennouz, Mohammed, additional, Caccamo, Daniela, additional, Legallic, Solenn, additional, Sgro, Domenica Lucia, additional, Bonsignore, Maria, additional, and Tortorella, Gaetano, additional
- Published
- 2008
- Full Text
- View/download PDF
11. ZDHHC8 Single Nucleotide Polymorphism rs175174 is not associated with psychiatric features of the 22q11 Deletion Syndrome or Schizophrenia
- Author
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Demily, Caroline, primary, Legallic, Solenn, additional, Bou, Jacqueline, additional, Houy-Durand, Emmanuelle, additional, Van Amelsvoort, Thérèse, additional, Zinkstok, Janneke, additional, Manouvrier-Hanue, Sylvie, additional, Vogels, Annick, additional, Drouin-Garraud, Valérie, additional, Philip, Nicole, additional, Philippe, Anne, additional, Héron, Delphine, additional, Sarda, Pierre, additional, Petit, Michel, additional, Thibaut, Florence, additional, Frébourg, Thierry, additional, and Campion, Dominique, additional
- Published
- 2007
- Full Text
- View/download PDF
12. Involvement of hyperprolinemia in cognitive and psychiatric features of the 22q11 deletion syndrome
- Author
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Raux, Grégory, primary, Bumsel, Emilie, additional, Hecketsweiler, Bernadette, additional, van Amelsvoort, Therese, additional, Zinkstok, Janneke, additional, Manouvrier-Hanu, Sylvie, additional, Fantini, Carole, additional, Brévière, Georges-Marie M., additional, Di Rosa, Gabriella, additional, Pustorino, Giuseppina, additional, Vogels, Annick, additional, Swillen, Ann, additional, Legallic, Solenn, additional, Bou, Jacqueline, additional, Opolczynski, Gaelle, additional, Drouin-Garraud, Valérie, additional, Lemarchand, Marie, additional, Philip, Nicole, additional, Gérard-Desplanches, Aude, additional, Carlier, Michèle, additional, Philippe, Anne, additional, Nolen, Marie Christine, additional, Heron, Delphine, additional, Sarda, Pierre, additional, Lacombe, Didier, additional, Coizet, Cyril, additional, Alembik, Yves, additional, Layet, Valérie, additional, Afenjar, Alexandra, additional, Hannequin, Didier, additional, Demily, Caroline, additional, Petit, Michel, additional, Thibaut, Florence, additional, Frebourg, Thierry, additional, and Campion, Dominique, additional
- Published
- 2006
- Full Text
- View/download PDF
13. Mutation of the PDGFRB gene as a cause of idiopathic basal ganglia calcification.
- Author
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Nicolas, Gaël, Pottier, Cyril, Maltête, David, Coûtant, Sophie, Rovelet-Lecrux, Anne, Legallic, Solenn, Rousseau, Stephane, Vaschalde, Yvan, Guyant-Maréchal, Lucie, Augustin, Jérôme, Martinaud, Olivier, Defebvre, Luc, Krystkowiak, Pierre, Pariente, Jérémie, Clanet, Michel, Labauge, Pierre, Ayrignac, Xavier, Lefaucheur, Romain, Le Ber, Isabelle, and Frébourg, Thierry
- Published
- 2013
- Full Text
- View/download PDF
14. TARDBP mutations in motoneuron disease with frontotemporal lobar degeneration.
- Author
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Benajiba, Lina, Le Ber, Isabelle, Camuzat, Agnès, Lacoste, Mathieu, Thomas-Anterion, Catherine, Couratier, Philippe, Legallic, Solenn, Salachas, François, Hannequin, Didier, Decousus, Marielle, Lacomblez, Lucette, Guedj, Eric, Golfier, Véronique, Camu, William, Dubois, Bruno, Campion, Dominique, Meininger, Vincent, and Brice, Alexis
- Abstract
TDP-43 (TAR-DNA binding protein) aggregates in neuronal inclusions in motoneuron disease (MND), as well as in frontotemporal lobar degeneration (FTLD) and FTLD associated with MND (FTLD-MND). Mutations in TARDBP gene, coding for TDP-43, were found in patients with pure MND. We now describe TARDBP mutations in two patients with FTLD-MND, presenting with a behavioral variant of FTLD and semantic dementia, suggesting that TDP-43 may also have a direct pathogenic role in FTLD disorders. Ann Neurol 2009;65:470-474 [ABSTRACT FROM AUTHOR]
- Published
- 2009
- Full Text
- View/download PDF
15. Mutation of the PDGFRBgene as a cause of idiopathic basal ganglia calcification
- Author
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Nicolas, Gaël, Pottier, Cyril, Maltête, David, Coutant, Sophie, Rovelet-Lecrux, Anne, Legallic, Solenn, Rousseau, Stéphane, Vaschalde, Yvan, Guyant-Maréchal, Lucie, Augustin, Jérôme, Martinaud, Olivier, Defebvre, Luc, Krystkowiak, Pierre, Pariente, Jérémie, Clanet, Michel, Labauge, Pierre, Ayrignac, Xavier, Lefaucheur, Romain, Le Ber, Isabelle, Frébourg, Thierry, Hannequin, Didier, and Campion, Dominique
- Abstract
To identify a new idiopathic basal ganglia calcification (IBGC)-causing gene.
- Published
- 2013
- Full Text
- View/download PDF
16. No pathogenic rearrangement within the DISC 1 gene in psychosis
- Author
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Legallic, Solenn, Bou, Jacqueline, Haouzir, Sadeq, Allio, Gabrielle, Demily, Caroline, Petit, Michel, Frebourg, Thierry, Thibaut, Florence, and Campion, Dominique
- Abstract
A translocation disrupting the DISC 1gene segregates with schizophrenia and related psychiatric disorders in a large Scottish family. Mutation screening of this gene by routine PCRbased methods has remained largely negative. We sought to detect rearrangements affecting DISC 1in 347 individuals meeting the DSM3R criteria for schizophrenia or schizoaffective disorder, 70 subjects with bipolar disorder and 377 psychiatrically healthy controls, but failed to detect any pathological rearrangement. © 2008 WileyLiss, Inc.
- Published
- 2009
- Full Text
- View/download PDF
17. A genome-wide study reveals rare CNVs exclusive to extreme phenotypes of Alzheimer disease.
- Author
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Rovelet-Lecrux A, Legallic S, Wallon D, Flaman JM, Martinaud O, Bombois S, Rollin-Sillaire A, Michon A, Le Ber I, Pariente J, Puel M, Paquet C, Croisile B, Thomas-Antérion C, Vercelletto M, Lévy R, Frébourg T, Hannequin D, and Campion D
- Subjects
- Age of Onset, Aged, Aged, 80 and over, Amyloid beta-Protein Precursor genetics, Amyloid beta-Protein Precursor metabolism, Female, Humans, Male, Middle Aged, Mutation, Alzheimer Disease genetics, DNA Copy Number Variations, Genome-Wide Association Study, Phenotype
- Abstract
Studying rare extreme forms of Alzheimer disease (AD) may prove to be a useful strategy in identifying new genes involved in monogenic determinism of AD. Amyloid precursor protein (APP), PSEN1, and PSEN2 mutations account for only 85% of autosomal dominant early-onset AD (ADEOAD) families. We hypothesised that rare copy number variants (CNVs) could be involved in ADEOAD families without mutations in known genes, as well as in rare sporadic young-onset AD cases. Using high-resolution array comparative genomic hybridisation, we assessed the presence of rare CNVs in 21 unrelated ADEOAD cases, having no alteration on known genes, and 12 sporadic AD cases, with an age of onset younger than 55 years. The analysis revealed the presence of 7 singleton CNVs (4 in ADEOAD and 3 in sporadic cases) absent in 1078 controls and 912 late-onset AD cases. Strikingly, 4 out of 7 rearrangements target genes (KLK6, SLC30A3, MEOX2, and FPR2) encoding proteins that are tightly related to amyloid-β peptide metabolism or signalling. Although these variants are individually rare and restricted to particular subgroups of patients, these findings support the causal role, in human pathology, of a set of genes coding for molecules suspected for a long time to modify Aβ metabolism or signalling, and for which animal or cellular models have already been developed.
- Published
- 2012
- Full Text
- View/download PDF
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