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1. An artificial neural network approach integrating plasma proteomics and genetic data identifies PLXNA4 as a new susceptibility locus for pulmonary embolism

Author

Razzaq, Misbah, Iglesias, Maria Jesus, Ibrahim-Kosta, Manal, Goumidi, Louisa, Soukarieh, Omar, Proust, Carole, Roux, Maguelonne, Suchon, Pierre, Boland, Anne, Daiain, Delphine, Olaso, Robert, Havervall, Sebastian, Thalin, Charlotte, Butler, Lynn, Deleuze, Jean-François, Odeberg, Jacob, Morange, Pierre-Emmanuel, and Trégouët, David-Alexandre

Published
2021
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2. Unravelling the determinants of human health in French Polynesia: the MATAEA project

Author

Teiti, Iotefa, primary, Aubry, Maite, additional, Fernandes-Pellerin, Sandrine, additional, Patin, Etienne, additional, Madec, Yoann, additional, Boucheron, Pauline, additional, Vanhomwegen, Jessica, additional, Torterat, Jérémie, additional, Lastère, Stéphane, additional, Olivier, Sophie, additional, Jaquaniello, Anthony, additional, Roux, Maguelonne, additional, Mendiboure, Vincent, additional, Harmant, Christine, additional, Bisiaux, Aurélie, additional, Rijo de León, Gaston, additional, Liu, Dang, additional, Bossin, Hervé, additional, Mathieu-Daudé, Françoise, additional, Gatti, Clémence, additional, Suhas, Edouard, additional, Chung, Kiyojiken, additional, Condat, Bertrand, additional, Ayotte, Pierre, additional, Conte, Eric, additional, Jolly, Nathalie, additional, Manuguerra, Jean-Claude, additional, Sakuntabhai, Anavaj, additional, Fontanet, Arnaud, additional, Quintana-Murci, Lluis, additional, and Cao-Lormeau, Van-Mai, additional

Published
2023
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3. Anti-integrin αv therapy improves cardiac fibrosis after myocardial infarction by blunting cardiac PW1+ stromal cells

Author

Bouvet, Marion, Claude, Olivier, Roux, Maguelonne, Skelly, Dan, Masurkar, Nihar, Mougenot, Nathalie, Nadaud, Sophie, Blanc, Catherine, Delacroix, Clément, Chardonnet, Solenne, Pionneau, Cédric, Perret, Claire, Yaniz-Galende, Elisa, Rosenthal, Nadia, Trégouët, David-Alexandre, Marazzi, Giovanna, Silvestre, Jean-Sébastien, Sassoon, David, and Hulot, Jean-Sébastien

Published
2020
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5. APOLD1 loss causes endothelial dysfunction involving cell junctions, cytoskeletal architecture, and Weibel-Palade bodies, while disrupting hemostasis

Author

Stritt, Simon, Nurden, Paquita, Nurden, Alan T., Schved, Jean-François, Bordet, Jean-Claude, Roux, Maguelonne, Alessi, Marie-Christine, Trégouët, David-Alexandre, Mäkinen, Taija, Giansily-Blaizot, Muriel, Stritt, Simon, Nurden, Paquita, Nurden, Alan T., Schved, Jean-François, Bordet, Jean-Claude, Roux, Maguelonne, Alessi, Marie-Christine, Trégouët, David-Alexandre, Mäkinen, Taija, and Giansily-Blaizot, Muriel

Abstract

Vascular homeostasis is impaired in various diseases thereby contributing to the progression of their underlying pathologies. The endothelial immediate early gene Apolipoprotein L domain-containing 1 (APOLD1) helps to regulate endothelial function. However, its precise role in endothelial cell biology remains unclear. We have localized APOLD1 to endothelial cell contacts and to Weibel-Palade bodies (WPB) where it associates with von Willebrand factor (VWF) tubules. Silencing of APOLD1 in primary human endothelial cells disrupted the cell junction-cytoskeletal interface, thereby altering endothelial permeability accompanied by spontaneous release of WPB contents. This resulted in an increased presence of WPB cargoes, notably VWF and angiopoietin-2 in the extracellular medium. Autophagy flux, previously recognized as an essential mechanism for the regulated release of WPB, was impaired in the absence of APOLD1. In addition, we report APOLD1 as a candidate gene for a novel inherited bleeding disorder across three generations of a large family in which an atypical bleeding diathesis was associated with episodic impaired microcirculation. A dominant heterozygous nonsense APOLD1:p.R49* variant segregated to affected family members. Compromised vascular integrity resulting from an excess of plasma angiopoietin-2, and locally impaired availability of VWF may explain the unusual clinical profile of APOLD1:p.R49* patients. In summary, our findings identify APOLD1 as an important regulator of vascular homeostasis and raise the need to consider testing of endothelial cell function in patients with inherited bleeding disorders without apparent platelet or coagulation defects.

Published
2023
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6. Unravelling the determinants of human health in French Polynesia: the MATAEA project

Author

Teiti, Iotefa, Aubry, Maite, Fernandes-pellerin, Sandrine, Patin, Etienne, Madec, Yoann, Boucheron, Pauline, Vanhomwegen, Jessica, Torterat, Jérémie, Lastère, Stéphane, Olivier, Sophie, Jaquaniello, Anthony, Roux, Maguelonne, Mendiboure, Vincent, Harmant, Christine, Bisiaux, Aurélie, De León, Gaston Rijo, Liu, Dang, Bossin, Hervé, Mathieu-daudé, Françoise, Gatti, Clémence, Suhas, Edouard, Chung, Kiyojiken, Condat, Bertrand, Ayotte, Pierre, Prud’homme, Nicolas, Conte, Eric, Jolly, Nathalie, Manugerra, Jean-claude, Sakuntabhai, Anavaj, Fontanet, Arnaud, Quintana-murci, Lluis, Cao-lormeau, Van-mai, Teiti, Iotefa, Aubry, Maite, Fernandes-pellerin, Sandrine, Patin, Etienne, Madec, Yoann, Boucheron, Pauline, Vanhomwegen, Jessica, Torterat, Jérémie, Lastère, Stéphane, Olivier, Sophie, Jaquaniello, Anthony, Roux, Maguelonne, Mendiboure, Vincent, Harmant, Christine, Bisiaux, Aurélie, De León, Gaston Rijo, Liu, Dang, Bossin, Hervé, Mathieu-daudé, Françoise, Gatti, Clémence, Suhas, Edouard, Chung, Kiyojiken, Condat, Bertrand, Ayotte, Pierre, Prud’homme, Nicolas, Conte, Eric, Jolly, Nathalie, Manugerra, Jean-claude, Sakuntabhai, Anavaj, Fontanet, Arnaud, Quintana-murci, Lluis, and Cao-lormeau, Van-mai

Abstract

BackgroundFrench Polynesia is a French overseas collectivity in the Southeast Pacific, comprising 75 inhabited islands across five archipelagoes. The human settlement of the region corresponds to the last massive migration of humans to empty territories, but its timeline is still debated. Despite their recent population history and geographical isolation, inhabitants of French Polynesia experience health issues similar to those of continental countries. Modern lifestyles and increased longevity have led to a rise in non-communicable diseases (NCDs) such as obesity, diabetes, hypertension, and cardiovascular diseases. Likewise, international trade and people mobility have caused the emergence of communicable diseases (CDs) including mosquito-borne and respiratory diseases. Additionally, chronic pathologies including acute rheumatic fever, liver diseases, and ciguatera, are highly prevalent in French Polynesia. However, data on such diseases are scarce and not representative of the geographic fragmentation of the population. ObjectivesThe MATAEA project aims to estimate the prevalence of several NCDs and CDs in the population of the five archipelagoes, and identify associated risk factors. Moreover, genetic analyses will contribute to determinate the sequence and timings of the peopling history of French Polynesia, and identify causal links between past genetic adaptation to island environments, and present-day susceptibility to certain diseases. MethodsThis cross-sectional survey is based on the random selection of 2,100 adults aged 18-69 years and residing on 18 islands from the five archipelagoes. Each participant answered a questionnaire on a wide range of topics (including demographic characteristics, lifestyle habits and medical history), underwent physical measurements (height, weight, waist circumference, arterial pressure, and skin pigmentation), and provided biological samples (blood, saliva, and stool) for biological, genetic and microbiological analyses. C

Published
2023
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7. Novel Cardiokine GDF3 Predicts Adverse Fibrotic Remodeling After Myocardial Infarction

Author

Masurkar, Nihar, primary, Bouvet, Marion, additional, Logeart, Damien, additional, Jouve, Charlène, additional, Dramé, Fatou, additional, Claude, Olivier, additional, Roux, Maguelonne, additional, Delacroix, Clément, additional, Bergerot, Damien, additional, Mercadier, Jean-Jacques, additional, Sirol, Marc, additional, Gellen, Barnabas, additional, Livrozet, Marine, additional, Fayol, Antoine, additional, Robidel, Estelle, additional, Trégouët, David-Alexandre, additional, Marazzi, Giovanna, additional, Sassoon, David, additional, Valente, Mariana, additional, and Hulot, Jean-Sébastien, additional

Published
2023
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8. The genomic landscape of contemporary western Remote Oceanians

Author

Arauna, Lara R., primary, Bergstedt, Jacob, additional, Choin, Jeremy, additional, Mendoza-Revilla, Javier, additional, Harmant, Christine, additional, Roux, Maguelonne, additional, Mas-Sandoval, Alex, additional, Lémée, Laure, additional, Colleran, Heidi, additional, François, Alexandre, additional, Valentin, Frédérique, additional, Cassar, Olivier, additional, Gessain, Antoine, additional, Quintana-Murci, Lluis, additional, and Patin, Etienne, additional

Published
2022
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10. APOLD1 loss causes endothelial dysfunction involving cell junctions, cytoskeletal architecture, and Weibel-Palade bodies, while disrupting hemostasis

Author

Stritt, Simon, primary, Nurden, Paquita, additional, Nurden, Alan T., additional, Schved, Jean-François, additional, Bordet, Jean-Claude, additional, Roux, Maguelonne, additional, Alessi, Marie-Christine, additional, Trégouët, David-Alexandre, additional, Mäkinen, Taija, additional, and Giansily-Blaizot, Muriel, additional

Published
2022
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11. A loss-of-function IFNAR1 allele in Polynesia underlies severe viral diseases in homozygotes

Author

Bastard, Paul, primary, Hsiao, Kuang-Chih, additional, Zhang, Qian, additional, Choin, Jeremy, additional, Best, Emma, additional, Chen, Jie, additional, Gervais, Adrian, additional, Bizien, Lucy, additional, Materna, Marie, additional, Harmant, Christine, additional, Roux, Maguelonne, additional, Hawley, Nicola L., additional, Weeks, Daniel E., additional, McGarvey, Stephen T., additional, Sandoval, Karla, additional, Barberena-Jonas, Carmina, additional, Quinto-Cortés, Consuelo D., additional, Hagelberg, Erika, additional, Mentzer, Alexander J., additional, Robson, Kathryn, additional, Coulibaly, Boubacar, additional, Seeleuthner, Yoann, additional, Bigio, Benedetta, additional, Li, Zhi, additional, Uzé, Gilles, additional, Pellegrini, Sandra, additional, Lorenzo, Lazaro, additional, Sbihi, Zineb, additional, Latour, Sylvain, additional, Besnard, Marianne, additional, Adam de Beaumais, Tiphaine, additional, Jacqz Aigrain, Evelyne, additional, Béziat, Vivien, additional, Deka, Ranjan, additional, Esera Tulifau, Litara, additional, Viali, Satupa‘itea, additional, Reupena, Muagututi‘a Sefuiva, additional, Naseri, Take, additional, McNaughton, Peter, additional, Sarkozy, Vanessa, additional, Peake, Jane, additional, Blincoe, Annaliesse, additional, Primhak, Sarah, additional, Stables, Simon, additional, Gibson, Kate, additional, Woon, See-Tarn, additional, Drake, Kylie Marie, additional, Hill, Adrian V.S., additional, Chan, Cheng-Yee, additional, King, Richard, additional, Ameratunga, Rohan, additional, Teiti, Iotefa, additional, Aubry, Maite, additional, Cao-Lormeau, Van-Mai, additional, Tangye, Stuart G., additional, Zhang, Shen-Ying, additional, Jouanguy, Emmanuelle, additional, Gray, Paul, additional, Abel, Laurent, additional, Moreno-Estrada, Andrés, additional, Minster, Ryan L., additional, Quintana-Murci, Lluis, additional, Wood, Andrew C., additional, and Casanova, Jean-Laurent, additional

Published
2022
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12. The novel cardiokine GDF3 predicts adverse fibrotic remodeling post-myocardial infarction

Author

Masurkar, Nihar, primary, Bouvet, Marion, additional, Logeart, Damien, additional, Claude, Olivier, additional, Roux, Maguelonne, additional, Delacroix, Clément, additional, Bergerot, Damien, additional, Mercadier, Jean-Jacques, additional, Sirol, Marc, additional, Gellen, Barnabas, additional, Livrozet, Marine, additional, Fayol, Antoine, additional, Robidel, Estelle, additional, Trégouët, David-Alexandre, additional, Marazzi, Giovanna, additional, Sassoon, David, additional, Valente, Mariana, additional, and Hulot, Jean-Sébastien, additional

Published
2021
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13. A novel rare c.-39C>T mutation in the PROS1 5'UTR causing PS deficiency by creating a new upstream translation initiation codone

Author

Labrouche-Colomer, Sylvie, Soukarieh, Omar, Proust, Carole, Mouton, Christine, Huguenin, Yoann, Roux, Maguelonne, Besse, Céline, Boland, Anne, Olaso, Robert, Constans, Joël, Deleuze, Jean-François, Morange, Pierre-Emmanuel, Jaspard-Vinassa, Béatrice, Trégouët, David-Alexandre, Biologie des maladies cardiovasculaires = Biology of Cardiovascular Diseases, Université de Bordeaux (UB)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Laboratoire d'hématologie, Bordeaux population health (BPH), Université de Bordeaux (UB)-Institut de Santé Publique, d'Épidémiologie et de Développement (ISPED)-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Bordeaux [Bordeaux], Génétique Evolutive Humaine - Human Evolutionary Genetics, Institut Pasteur [Paris] (IP)-Centre National de la Recherche Scientifique (CNRS), Centre National de Recherche en Génomique Humaine, Institut de Génomique, CEA, Evry, France, Centre d'Etude du Polymorphisme Humain (CEPH), Institut Universitaire d'Hématologie (IUH), Université Paris Diderot - Paris 7 (UPD7)-Université Paris Diderot - Paris 7 (UPD7)-Fondation Jean Dausset-Université Paris Cité (UPCité), Centre recherche en CardioVasculaire et Nutrition = Center for CardioVascular and Nutrition research (C2VN), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), This work was supported by the GENMED Laboratory of Excellence on Medical Genomics [grant number ANR-10-LABX-0013 (to O.S. and M.R.)], the «EPIDEMIOM-VTE» Senior Chair from the Initiative of Excellence of the University of Bordeaux [grant number ANR No.–10–IDEX-03-02 (to D.A.T.)], partially supported by the French Clinical Research Infrastructure Network on Venous Thrombo-Embolism (F-CRIN INNOVTE), and two research programs managed by the National Research Agency (ANR) as part of the French Investment for the Future., ANR-10-IDEX-0003,IDEX BORDEAUX,Initiative d'excellence de l'Université de Bordeaux(2010), ANR-10-LABX-0013,GENMED,Medical Genomics(2010), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Bordeaux (UB)-Centre National de la Recherche Scientifique (CNRS), Institut Pasteur [Paris]-Centre National de la Recherche Scientifique (CNRS), Université Paris Diderot - Paris 7 (UPD7)-Université Paris Diderot - Paris 7 (UPD7)-Fondation Jean Dausset-Université de Paris (UP), Boullé, Christelle, Initiative d'excellence de l'Université de Bordeaux - - IDEX BORDEAUX2010 - ANR-10-IDEX-0003 - IDEX - VALID, and Medical Genomics - - GENMED2010 - ANR-10-LABX-0013 - LABX - VALID

Subjects
Male, Base Sequence, Codon, Initiator, Pedigree, Protein S, [SDV.MHEP.CSC] Life Sciences [q-bio]/Human health and pathology/Cardiology and cardiovascular system, open reading frame, Protein S deficiency, Young Adult, genomic medicine, [SDV.MHEP.CSC]Life Sciences [q-bio]/Human health and pathology/Cardiology and cardiovascular system, VINTAGE, Protein Biosynthesis, Humans, Female, Venos Thrombosis, mutation, 5' Untranslated Regions, HeLa Cells
Abstract

International audience; Autosomal dominant inherited Protein S deficiency (PSD) (MIM 612336) is a rare disorder caused by rare mutations, mainly located in the coding sequence of the structural PROS1 gene, and associated with an increased risk of venous thromboembolism. To identify the molecular defect underlying PSD observed in an extended French pedigree with seven PSD affected members in whom no candidate deleterious PROS1 mutation was detected by Sanger sequencing of PROS1 exons and their flanking intronic regions or via an multiplex ligation-dependent probe amplification (MLPA) approach, a whole genome sequencing strategy was adopted. This led to the identification of a never reported C to T substitution at c.-39 from the natural ATG codon of the PROS1 gene that completely segregates with PSD in the whole family. This substitution ACG→ATG creates a new start codon upstream of the main ATG. We experimentally demonstrated in HeLa cells that the variant generates a novel overlapping upstream open reading frame (uORF) and inhibits the translation of the wild-type PS. This work describes the first example of 5'UTR PROS1 mutation causing PSD through the creation of an uORF, a mutation that is not predicted to be deleterious by standard annotation softwares, and emphasizes the need for better exploration of such type of non-coding variations in clinical genomics.

Published
2020
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14. An artificial neural network approach integrating plasma proteomics and genetic data identifies PLXNA4 as a new susceptibility locus for pulmonary embolism

Author

Razzaq, Misbah, primary, Iglesias, Maria Jesus, additional, Ibrahim-Kosta, Manal, additional, Goumidi, Louisa, additional, Soukarieh, Omar, additional, Proust, Carole, additional, Roux, Maguelonne, additional, Suchon, Pierre, additional, Boland, Anne, additional, Daiain, Delphine, additional, Olaso, Robert, additional, Butler, Lynn, additional, Deleuze, Jean-François, additional, Odeberg, Jacob, additional, Morange, Pierre-Emmanuel, additional, and Trégouët, David-Alexandre, additional

Published
2020
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16. Targeted panel sequencing in adult patients with left ventricular non‐compaction reveals a large genetic heterogeneity

Author

Richard, Pascale, primary, Ader, Flavie, additional, Roux, Maguelonne, additional, Donal, Erwan, additional, Eicher, Jean‐Christophe, additional, Aoutil, Nadia, additional, Huttin, Olivier, additional, Selton‐Suty, Christine, additional, Coisne, Damien, additional, Jondeau, Guillaume, additional, Damy, Thibaud, additional, Mansencal, Nicolas, additional, Casalta, Anne‐Claire, additional, Michel, Nicolas, additional, Haentjens, Julie, additional, Faivre, Laurence, additional, Lavoute, Cecile, additional, Nguyen, Karine, additional, Tregouët, David‐Alexandre, additional, Habib, Gilbert, additional, and Charron, Philippe, additional

Published
2018
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18. Fibrogenic Potential of PW1/Peg3 Expressing Cardiac Stem Cells

Author

Yaniz-Galende, Elisa, primary, Roux, Maguelonne, additional, Nadaud, Sophie, additional, Mougenot, Nathalie, additional, Bouvet, Marion, additional, Claude, Olivier, additional, Lebreton, Guillaume, additional, Blanc, Catherine, additional, Pinet, Florence, additional, Atassi, Fabrice, additional, Perret, Claire, additional, Dierick, France, additional, Dussaud, Sébastien, additional, Leprince, Pascal, additional, Trégouët, David-Alexandre, additional, Marazzi, Giovanna, additional, Sassoon, David, additional, and Hulot, Jean-Sébastien, additional

Published
2017
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19. Targeted panel sequencing in adult patients with left ventricular non‐compaction reveals a large genetic heterogeneity.

Author

Ader, Flavie, Aoutil, Nadia, Richard, Pascale, Casalta, Anne‐Claire, Michel, Nicolas, Haentjens, Julie, Lavoute, Cecile, Habib, Gilbert, Faivre, Laurence, Nguyen, Karine, Roux, Maguelonne, Tregouët, David‐Alexandre, Charron, Philippe, Donal, Erwan, Eicher, Jean‐Christophe, Huttin, Olivier, Selton‐Suty, Christine, Coisne, Damien, Jondeau, Guillaume, and Damy, Thibaud

Subjects
NUCLEOTIDE sequencing, ADULTS, LEFT heart ventricle, DNA condensation, GENETICS, HETEROGENEITY, CARDIOMYOPATHIES
Abstract

Left ventricular non‐compaction (LVNC) is a cardiomyopathy that may be of genetic origin; however, few data are available about the yield of mutation, the spectrum of genes and allelic variations. The aim of this study was to better characterize the genetic spectrum of isolated LVNC in a prospective cohort of 95 unrelated adult patients through the molecular investigation of 107 genes involved in cardiomyopathies and arrhythmias. Fifty‐two pathogenic or probably pathogenic variants were identified in 40 patients (42%) including 31 patients (32.5%) with single variant and 9 patients with complex genotypes (9.5%). Mutated patients tended to have younger age at diagnosis than patients with no identified mutation. The most prevalent genes were TTN, then HCN4, MYH7, and RYR2. The distribution includes 13 genes previously reported in LVNC and 10 additional candidate genes. Our results show that LVNC is basically a genetic disease and support genetic counseling and cardiac screening in relatives. There is a large genetic heterogeneity, with predominant TTN null mutations and frequent complex genotypes. The gene spectrum is close to the one observed in dilated cardiomyopathy but with specific genes such as HCN4. We also identified new candidate genes that could be involved in this sub‐phenotype of cardiomyopathy. [ABSTRACT FROM AUTHOR]

Published
2019
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20. A gain of function variant in RGS18candidate for a familial mild bleeding syndrome

Author

Vayne, Caroline, Roux, Maguelonne, Gruel, Yves, Poggi, Marjorie, Pouplard, Claire, Peiretti, Franck, Trégouët, David-Alexandre, Nurden, Paquita, and Alessi, Marie-Christine

Abstract

Inherited platelet diseases are bleeding disorders characterized by either defects in platelet count or platelet function, the latter being less common and very heterogeneous. Numerous gene variants associated with abnormal receptors, granules, and signaling pathways have been reported. Despite significant advancements in our understanding, many patients still lack a precise diagnosis.

Published
2024
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21. OPTIMIR, a novel algorithm for integrating available genome-wide genotype data into miRNA sequence alignment analysis

Author

Thibord, Florian, Perret, Claire, Roux, Maguelonne, Suchon, Pierre, Germain, Marine, Deleuze, Jean-Francois, Morange, Pierre-Emmanuel, and Trégoue¨t, David-Alexandre

Abstract

Next-generation sequencing is an increasingly popular and efficient approach to characterize the full set of microRNAs (miRNAs) present in human biosamples. MiRNAs’ detection and quantification still remain a challenge as they can undergo different posttranscriptional modifications and might harbor genetic variations (polymiRs) that may impact on the alignment step. We present a novel algorithm, OPTIMIR, that incorporates biological knowledge on miRNA editing and genome-wide genotype data available in the processed samples to improve alignment accuracy. OPTIMIR was applied to 391 human plasma samples that had been typed with genome-wide genotyping arrays. OPTIMIR was able to detect genotyping errors, suggested the existence of novel miRNAs and highlighted the allelic imbalance expression of polymiRs in heterozygous carriers. OPTIMIR is written in python, and freely available on the GENMED website (http://www.genmed.fr/index.php/fr/) and on Github (github.com/FlorianThibord/OptimiR).

Published
2019
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22. L'amélioration variétale du riz en France méditerranéenne : rapport analytique 2002

Author

Clément, Guy, Louvel, Didier, Séguy, Jean-Louis, Lambertin, Robert, Mombel, Xavier, Luce, Xavier, Guiderdoni, Emmanuel, Taillebois, James E., Blanc, Olivier, Féougier, Gérard, Jean, Olivier, Pons, Valérie, Roques, Sandrine, Roux, Maguelonne, and Thomas, Cyrille

Subjects
Ensemencement, Collection botanique, Sélection, Oryza, Amélioration des plantes, F30 - Génétique et amélioration des plantes, Riz irrigué, Rendement des cultures, Qualité technologique, Grain, Caractère agronomique, Essai de variété
Abstract

Le programme d'amélioration du riz irrigué pour la France méditerranéenne vise à la création de variétés susceptibles de répondre à la fois à la demande des producteurs (niveau et régularité du rendement), des industriels (aptitudes à l'usinage et à la transformation) et des consommateurs (qualités culinaires et gustatives). Une attention particulière est portée à la sélection de variétés potentiellement intéressantes pour occuper des niches de marché ou répondant à des canons de qualité déjà pris en compte par le négoce comme l'arôme du grain.

Published
2002

23. APOLD1 loss causes endothelial dysfunction involving cell junctions, cytoskeletal architecture, and Weibel-Palade bodies, while disrupting hemostasis.

Author

Stritt S, Nurden P, Nurden AT, Schved JF, Bordet JC, Roux M, Alessi MC, Trégouët DA, Mäkinen T, and Giansily-Blaizot M

Subjects
Humans, von Willebrand Factor genetics, Endothelial Cells physiology, Angiopoietin-2 genetics, Exocytosis physiology, Hemostasis, Intercellular Junctions, Weibel-Palade Bodies, Vascular Diseases
Abstract

Vascular homeostasis is impaired in various diseases thereby contributing to the progression of their underlying pathologies. The endothelial immediate early gene Apolipoprotein L domain-containing 1 (APOLD1) helps to regulate endothelial function. However, its precise role in endothelial cell biology remains unclear. We have localized APOLD1 to endothelial cell contacts and to Weibel-Palade bodies (WPB) where it associates with von Willebrand factor (VWF) tubules. Silencing of APOLD1 in primary human endothelial cells disrupted the cell junction-cytoskeletal interface, thereby altering endothelial permeability accompanied by spontaneous release of WPB contents. This resulted in an increased presence of WPB cargoes, notably VWF and angiopoietin-2 in the extracellular medium. Autophagy flux, previously recognized as an essential mechanism for the regulated release of WPB, was impaired in the absence of APOLD1. In addition, we report APOLD1 as a candidate gene for a novel inherited bleeding disorder across three generations of a large family in which an atypical bleeding diathesis was associated with episodic impaired microcirculation. A dominant heterozygous nonsense APOLD1:p.R49* variant segregated to affected family members. Compromised vascular integrity resulting from an excess of plasma angiopoietin-2, and locally impaired availability of VWF may explain the unusual clinical profile of APOLD1:p.R49* patients. In summary, our findings identify APOLD1 as an important regulator of vascular homeostasis and raise the need to consider testing of endothelial cell function in patients with inherited bleeding disorders without apparent platelet or coagulation defects.

Published
2023
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24. A novel rare c.-39C>T mutation in the PROS1 5'UTR causing PS deficiency by creating a new upstream translation initiation codon.

Author

Labrouche-Colomer S, Soukarieh O, Proust C, Mouton C, Huguenin Y, Roux M, Besse C, Boland A, Olaso R, Constans J, Deleuze JF, Morange PE, Jaspard-Vinassa B, and Trégouët DA

Subjects
Base Sequence, Female, HeLa Cells, Humans, Male, Pedigree, Young Adult, 5' Untranslated Regions genetics, Codon, Initiator genetics, Mutation genetics, Protein Biosynthesis, Protein S genetics, Protein S Deficiency genetics
Abstract

Autosomal dominant inherited Protein S deficiency (PSD) (MIM 612336) is a rare disorder caused by rare mutations, mainly located in the coding sequence of the structural PROS1 gene, and associated with an increased risk of venous thromboembolism. To identify the molecular defect underlying PSD observed in an extended French pedigree with seven PSD affected members in whom no candidate deleterious PROS1 mutation was detected by Sanger sequencing of PROS1 exons and their flanking intronic regions or via an multiplex ligation-dependent probe amplification (MLPA) approach, a whole genome sequencing strategy was adopted. This led to the identification of a never reported C to T substitution at c.-39 from the natural ATG codon of the PROS1 gene that completely segregates with PSD in the whole family. This substitution ACG→ATG creates a new start codon upstream of the main ATG. We experimentally demonstrated in HeLa cells that the variant generates a novel overlapping upstream open reading frame (uORF) and inhibits the translation of the wild-type PS. This work describes the first example of 5'UTR PROS1 mutation causing PSD through the creation of an uORF, a mutation that is not predicted to be deleterious by standard annotation softwares, and emphasizes the need for better exploration of such type of non-coding variations in clinical genomics., (© 2020 The Author(s).)

Published
2020
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25. Targeted panel sequencing in adult patients with left ventricular non-compaction reveals a large genetic heterogeneity.

Author

Richard P, Ader F, Roux M, Donal E, Eicher JC, Aoutil N, Huttin O, Selton-Suty C, Coisne D, Jondeau G, Damy T, Mansencal N, Casalta AC, Michel N, Haentjens J, Faivre L, Lavoute C, Nguyen K, Tregouët DA, Habib G, and Charron P

Subjects
Adult, Alleles, Biomarkers, Computational Biology methods, Echocardiography, Female, Genetic Variation, Genotype, Humans, Male, Middle Aged, Mutation, Pedigree, Phenotype, Ventricular Dysfunction, Left diagnosis, Ventricular Dysfunction, Left genetics, Cardiomyopathies diagnosis, Cardiomyopathies genetics, Genetic Association Studies methods, Genetic Heterogeneity, Genetic Predisposition to Disease, High-Throughput Nucleotide Sequencing
Abstract

Left ventricular non-compaction (LVNC) is a cardiomyopathy that may be of genetic origin; however, few data are available about the yield of mutation, the spectrum of genes and allelic variations. The aim of this study was to better characterize the genetic spectrum of isolated LVNC in a prospective cohort of 95 unrelated adult patients through the molecular investigation of 107 genes involved in cardiomyopathies and arrhythmias. Fifty-two pathogenic or probably pathogenic variants were identified in 40 patients (42%) including 31 patients (32.5%) with single variant and 9 patients with complex genotypes (9.5%). Mutated patients tended to have younger age at diagnosis than patients with no identified mutation. The most prevalent genes were TTN, then HCN4, MYH7, and RYR2. The distribution includes 13 genes previously reported in LVNC and 10 additional candidate genes. Our results show that LVNC is basically a genetic disease and support genetic counseling and cardiac screening in relatives. There is a large genetic heterogeneity, with predominant TTN null mutations and frequent complex genotypes. The gene spectrum is close to the one observed in dilated cardiomyopathy but with specific genes such as HCN4. We also identified new candidate genes that could be involved in this sub-phenotype of cardiomyopathy., (© 2018 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.)

Published
2019
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