Analysis of Plasminogen Genetic Variants in Multiple Sclerosis Patients

Autor: A. Dessa Sadovnick, Anthony L. Traboulsee, Cecily Q. Bernales, Jay P. Ross, Amanda L. Forwell, Irene M. Yee, Lena Guillot-Noel, Bertrand Fontaine, Isabelle Cournu-Rebeix, Antonio Alcina, Maria Fedetz, Guillermo Izquierdo, Fuencisla Matesanz, Kelly Hilven, Bénédicte Dubois, An Goris, Ianire Astobiza, Iraide Alloza, Alfredo Antigüedad, Koen Vandenbroeck, Denis A. Akkad, Orhan Aktas, Paul Blaschke, Mathias Buttmann, Andrew Chan, Joerg T. Epplen, Lisa-Ann Gerdes, Antje Kroner, Christian Kubisch, Tania Kümpfel, Peter Lohse, Peter Rieckmann, Uwe K. Zettl, Frauke Zipp, Lars Bertram, Christina M Lill, Oscar Fernandez, Patricia Urbaneja, Laura Leyva, Jose Carlos Alvarez-Cermeño, Rafael Arroyo, Aroa M. Garagorri, Angel García-Martínez, Luisa M. Villar, Elena Urcelay, Sunny Malhotra, Xavier Montalban, Manuel Comabella, Thomas Berger, Franz Fazekas, Markus Reindl, Mascha C. Schmied, Alexander Zimprich, Carles Vilariño-Güell

Publikováno v: G3: Genes, Genomes, Genetics, Vol 6, Iss 7, Pp 2073-2079 (2016)

Multiple sclerosis (MS) is a prevalent neurological disease of complex etiology. Here, we describe the characterization of a multi-incident MS family that nominated a rare missense variant (p.G420D) in plasminogen (PLG) as a putative genetic risk fac

Externí odkaz: https://doaj.org/article/ad94b930f9574b93ac8b8955b0887d3c

Clinical and genetic keys to cerebellar ataxia due to FGF14 GAA expansionsResearch in context

Autor: Jean-Loup Méreaux, Claire-Sophie Davoine, David Pellerin, Giulia Coarelli, Marie Coutelier, Claire Ewenczyk, Marie-Lorraine Monin, Mathieu Anheim, Isabelle Le Ber, Stéphane Thobois, Florent Gobert, Léna Guillot-Noël, Sylvie Forlani, Ludmila Jornea, Anna Heinzmann, Aude Sangare, Bertrand Gaymard, Lucie Guyant-Maréchal, Perrine Charles, Cecilia Marelli, Jérôme Honnorat, Bertrand Degos, François Tison, Sophie Sangla, Marion Simonetta-Moreau, François Salachas, Maya Tchikviladzé, Giovanni Castelnovo, Fanny Mochel, Stephan Klebe, Anna Castrioto, Silvia Fenu, Aurélie Méneret, Frédéric Bourdain, Marion Wandzel, Virginie Roth, Céline Bonnet, Florence Riant, Giovanni Stevanin, Sandrine Noël, Anne-Laure Fauret-Amsellem, Melanie Bahlo, Paul J. Lockhart, Bernard Brais, Mathilde Renaud, Alexis Brice, Alexandra Durr

Publikováno v: EBioMedicine, Vol 99, Iss , Pp 104931- (2024)

Summary: Background: SCA27B caused by FGF14 intronic heterozygous GAA expansions with at least 250 repeats accounts for 10–60% of cases with unresolved cerebellar ataxia. We aimed to assess the size and frequency of FGF14 expanded alleles in indivi

Externí odkaz: https://doaj.org/article/b26cd43fea5a421e9fcee91863d8d690

Low frequency and rare coding variation contributes to multiple sclerosis risk

Autor: Fredrik Karpe, Graeme Stewart, Jan Hillert, Elisabetta Mascia, Matt J. Neville, Verena Grummel, Jonathan L. Haines, Kate Fitzgerald, Bernhard Hemmer, Julia Y Mescheriakova, Benedicte A. Lie, Efthimios Luessi, Federica Esposito, Andreas Ziegler, Ioanna Konidari, Cristin McCabe, Keith R. Edwards, Roland Martin, Daniele Cusi, Elisabeth Gulowsen Celius, Cristina Agliardi, Anne Spurkland, Georgios M. Hadjigeorgiou, Lena Guillot-Noel, Antonios Bayas, Uwe K. Zettl, Kjell-Morten Myhr, Maria Ban, Rogier Q. Hintzen, Frauke Zipp, Mireia Sospedra, Till F. M. Andlauer, Adrian J. Ivinson, Mary F. Davis, Mark Lathrop, Daniela Galimberti, Pierre-Antoine Gourraud, Genevieve Lachance, Bruce A.C. Cree, Robin Lemmens, Ashley Beecham, Steffan D. Bos, Bruce V. Taylor, Maurizio Leone, Manuel Comabella, Maja Jagodic, Helle Bach Søndergaard, David A. Hafler, Ingrid Kockum, Nadia Barizzone, Ralf Gold, Tania Kümpfel, Per Soelberg Sørensen, Seema Kalra, An Goris, Philip Van Damme, Marie B. D'hooghe, Cathy Schaefer, Efthimios Dardiotis, Alastair Compston, Lotti Tajoori, Sandra D'Alfonso, Ilijas Jelcic, Stephen Sawcer, Brigitte Wildemann, Friedemann Paul, Lise Wegner Thoerner, Silvia Delgado, Tomas Olsson, Mitja Mitrovic, Hayrettin Tumani, Henrik Ullum, Lisa F. Barcellos, Xavier Montalban, Ellen Lathi, Finn Sellebjerg, Thomas Werge, Christina M. Lill, Pernilla Stridh, Paul I.W. de Bakker, Cornelia M. van Duijn, Jyoti Khadake, Jac Charlesworth, Melissa Sorosina, Christiane Gasperi, Stephen L. Hauser, Anne H. Cross, Isabelle Cournu-Rebeix, Nikolaos A. Patsopoulos, Fredrik Piehl, Lars Alfredsson, Bertrand Fontaine, Marieme Dembele, Margaret A. Pericak-Vance, Janna Saarela, Ulf Ziemann, Annette Bang Oturai, Stacy J. Caillier, Jorge R. Oksenberg, Bénédicte Dubois, Björn Tackenberg, Christoph Heesen, Jacob L. McCauley, Florian Then Bergh, Clemens Warnke, Sergio E. Baranzini, Peter A. Calabresi, Chris Cotsapas, Clive Hawkins, Martin Stangel, Hakon Hakonarson, Sandra Vukusik, Christiane Graetz, Heinz Wiendl, Howard L. Weiner, Laura Piccio, Giancarlo Comi, Ralf A. Linker, Luisa Bernardinelli, Cristoforo Comi, Filippo Martinelli-Boneschi, Hanne F. Harbo, Dorothea Buck, Clara P. Manrique, David R. Booth, Benjamin Knier, Philip L. De Jager, Viola Pongratz, Laura Ferrè, Vincent Damotte, Adam Santaniello, Theresa Dankowski, Pirro G. Hysi

Multiple sclerosis is a common, complex neurological disease, where almost 20% of risk heritability can be attributed to common genetic variants, including >230 identified by genome-wide association studies (Patsopoulos et al., 2017). Multiple strand

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ca312b659a481d06422bdfe2f8ceb857

Adaptive human immunity drives remyelination in a mouse model of demyelination

Autor: Isabelle Cournu-Rebeix, Lena Guillot-Noel, Violetta Zujovic, Charles Sanson, Elisabeth Maillart, Bruno Stankoff, Vincent Guillemot, Mohamed El Behi, Nadège Sarrazin, Bertrand Fontaine, Jennifer Fransson, Corinne Bachelin, Hervé Abdi

Publikováno v: Brain

The factors that determine whether remyelination fails or succeeds in multiple sclerosis remain unknown. By grafting lymphocytes from patients into demyelinated lesions in mice, El Behi, Sanson et al. show that lymphocytes differ in their ability to

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::661c1ec66f9f2b4aa32abdbddeac477d
https://pubmed.ncbi.nlm.nih.gov/28334918

Analysis of Plasminogen Genetic Variants in Multiple Sclerosis Patients

Autor: Thomas Berger, Franz Fazekas, A. Dessa Sadovnick, Lars Bertram, José C. Álvarez-Cermeño, Orhan Aktas, Mathias Buttmann, Cecily Q. Bernales, Irene M. Yee, Antonio Alcina, Kelly Hilven, Bénédicte Dubois, M. Schmied, Joerg T. Epplen, Uwe K. Zettl, Carles Vilariño-Güell, Jay P. Ross, Anthony Traboulsee, Patricia Urbaneja, Alexander Zimprich, Iraide Alloza, Lisa Ann Gerdes, Ianire Astobiza, Peter Lohse, Angel Garcia-Martinez, Fuencisla Matesanz, Guillermo Izquierdo, Aroa M. Garagorri, Tania Kümpfel, Koen Vandenbroeck, Alfredo Antigüedad, Bertrand Fontaine, Manuel Comabella, Oscar Fernandez, Denis A. Akkad, Paul Blaschke, Peter Rieckmann, Xavier Montalban, Christian Kubisch, Markus Reindl, Isabelle Cournu-Rebeix, Elena Urcelay, Lena Guillot-Noel, Frauke Zipp, Andrew T. Chan, Sunny Malhotra, Rafael Arroyo, An Goris, Antje Kroner, Luisa M. Villar, María Fedetz, Amanda L. Forwell, Christina M. Lill, Laura Leyva

Publikováno v: Sadovnick, A Dessa; Traboulsee, Anthony L; Bernales, Cecily Q; Ross, Jay P; Forwell, Amanda L; Yee, Irene M; Guillot-Noel, Lena; Fontaine, Bertrand; Cournu-Rebeix, Isabelle; Alcina, Antonio; Fedetz, Maria; Izquierdo, Guillermo; Matesanz, Fuencisla; Hilven, Kelly; Dubois, Bénédicte; Goris, An; Astobiza, Ianire; Alloza, Iraide; Antigüedad, Alfredo; Vandenbroeck, Koen; ... (2016). Analysis of Plasminogen Genetic Variants in Multiple Sclerosis Patients. G3 Genes Genomes Genetics, 6(7), pp. 2073-2079. Genetics Society of America 10.1534/g3.116.030841
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G3: Genes, Genomes, Genetics, Vol 6, Iss 7, Pp 2073-2079 (2016)
G3: Genes|Genomes|Genetics

Multiple sclerosis (MS) is a prevalent neurological disease of complex etiology. Here, we describe the characterization of a multi-incident MS family that nominated a rare missense variant (p.G420D) in plasminogen (PLG) as a putative genetic risk fac

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f159b6d80fdf536b62121bc5446912ef