Zobrazeno 1 - 10
of 2 815
pro vyhledávání: '"[ SDV.GEN.GH ] Life Sciences [q-bio]/Genetics/Human genetics"'
Autor:
Fevga, Christina, Tesson, Christelle, Carreras Mascaro, Ana, Courtin, Thomas, Van Coller, Riaan, Sakka, Salma, Ferraro, Federico, Farhat, Nouha, Bardien, Soraya, Damak, Mariem, Carr, Jonathan, Ferrien, Melanie, Boumeester, Valerie, Hundscheid, Jasmijn, Grillenzoni, Nicola, Kessissoglou, Irini A., Kuipers, Demy J.S., Quadri, Marialuisa, Agid, Yves, Anheim, Mathieu, Borg, Michel, Brice, Alexis, Broussolle, Emmanuel, Corvol, Jean Christophe, Damier, Philippe, Defebvre, Luc, Dürr, Alexandra, Durif, Franck, Houeto, Jean Luc, Krack, Paul, Klebe, Stephan, Lesage, Suzanne, Lohmann, Ebba, Martinez, Maria, Mangone, Graziella, Mariani, Louise Laure, Pollak, Pierre, Rascol, Olivier, Tison, François, Tranchant, Christine, Verin, Marc, Viallet, François, Vidailhet, Marie, Emre, Murat, Hanagasi, Hasmet, Bilgic, Basar, Lu, Bedia Marangozog, Benmahdjoub, Mustapha, Arezki, Mohammed, Bouchetara, Sofiane A., Benhassine, Traki, Tazir, Meriem, Djebara, Mouna Ben, Gouider, Riadh, Romdhan, Sawssan Ben, Mhiri, Chokri, Bouhouche, Ahmed, Bonifati, Vincenzo, Mandemakers, Wim, Kievit, Anneke J.A., Boon, Agnita J.W., Ferreira, Joaquim J., Guedes, Leonor Correia, Hanagasi, Hasmet A., Tufekcioglu, Zeynep, Elibol, Bulent, Dog.u, Okan, Gultekin, Murat, Chien, Hsin F., Barbosa, Egberto, Jardim, Laura Bannach, Rieder, Carlos R.M., Chang, Hsiu Chen, Lu, Chin Song, Wu-Chou, Yah Huei, Yeh, Tu Hsueh, Lopiano, Leonardo, Tassorelli, Cristina, Pacchetti, Claudio, Comi, Cristoforo, Raudino, Francesco, Bertolasi, Laura, Tinazzi, Michele, Bonizzato, Alberto, Ferracci, Carlo, Marconi, Roberto, Guidi, Marco, Onofrj, Marco, Thomas, Astrid, Vanacore, Nicola, Meco, Giuseppe, Fabrizio, Edito, Fabbrini, Giovanni, Berardelli, Alfredo, Stocchi, Fabrizio, Vacca, Laura, Barone, Paolo, Picillo, Marina, De Michele, Giuseppe, Criscuolo, Chiara, De Mari, Michele, Dell'aquila, Claudia, Iliceto, Giovanni, Toni, Vincenzo, Trianni, Giorgio, Saddi, Valeria, Cossu, Gianni, Melis, Maurizio, Hassan, Bassem A., Breedveld, Guido J.
Publikováno v:
Brain-A Journal of Neurology
Brain-A Journal of Neurology, 2022, ⟨10.1093/brain/awac326⟩
Brain, 146(4), 1496-1510. Oxford University Press
Brain-A Journal of Neurology, 2022, ⟨10.1093/brain/awac326⟩
Brain, 146(4), 1496-1510. Oxford University Press
The protein phosphatase 2A complex (PP2A), the major Ser/Thr phosphatase in the brain, is involved in a number of signalling pathways and functions, including the regulation of crucial proteins for neurodegeneration, such as alpha-synuclein, tau and
Publikováno v:
Neuromuscular Disorders
Neuromuscular Disorders, 2023, ⟨10.1016/j.nmd.2023.04.009⟩
Neuromuscular Disorders, 2023, ⟨10.1016/j.nmd.2023.04.009⟩
International audience
Autor:
Daphné Karila, Bruno Donadille, Juliane Léger, Claire Bouvattier, Anne Bachelot, Veronique Kerlan, Sophie Catteau-Jonard, Sylvie Salenave, Frédérique Albarel, Claire Briet, Regis Coutant, Aude Brac De La Perriere, Alexander Valent, Jean-Pierre Siffroi, Sophie Christin-Maitre
Publikováno v:
European Journal of Endocrinology
European Journal of Endocrinology, 2022, pp.EJE-22-0593. ⟨10.1530/EJE-22-0593⟩
European Journal of Endocrinology, 2022, pp.EJE-22-0593. ⟨10.1530/EJE-22-0593⟩
Introduction A gonadectomy is currently recommended in patients with Turner syndrome (TS) and a 45,X/46,XY karyotype, due to a potential risk of gonadoblastoma (GB). However, the quality of evidence behind this recommendation is low. Objective This s
Autor:
Meunier Mathieu, Chloé Friedrich, Nicolas Ducrot, Johanna Zannoni, Tondeur Sylvie, Nelly Jerraya, Sophie Rousseaux, Florent Chuffart, Olivier Kosmider, Zoubida Karim, Sophie Park
Publikováno v:
Annals of Hematology
Annals of Hematology, 2022, 101 (12), pp.2633-2643. ⟨10.1007/s00277-022-04993-7⟩
Annals of Hematology, 2022, 101 (12), pp.2633-2643. ⟨10.1007/s00277-022-04993-7⟩
International audience; In low-risk myelodysplastic syndrome (LR-MDS), erythropoietin (EPO) is widely used for the treatment of chronic anemia. However, initial response to EPO has time-limited effects. Luspatercept reduces red blood cell transfusion
Autor:
Madeline Louise Reilly, Noor ul Ain, Mari Muurinen, Alice Tata, Céline Huber, Marleen Simon, Tayyaba Ishaq, Nick Shaw, Salla Rusanen, Minna Pekkinen, Wolfgang Högler, Maarten F. C. M. Knapen, Myrthe van den Born, Sophie Saunier, Sadaf Naz, Valérie Cormier‐Daire, Alexandre Benmerah, Outi Makitie
Publikováno v:
Journal of Bone and Mineral Research, 37(9), 1642-1652. Wiley-Blackwell
Journal of Bone and Mineral Research
Journal of Bone and Mineral Research, In press, ⟨10.1002/jbmr.4639⟩
Journal of Bone and Mineral Research
Journal of Bone and Mineral Research, In press, ⟨10.1002/jbmr.4639⟩
Skeletal dysplasias comprise a large spectrum of mostly monogenic disorders affecting bone growth, patterning, and homeostasis, and ranging in severity from lethal to mild phenotypes. This study aimed to underpin the genetic cause of skeletal dysplas
Autor:
Erin Rooney Riggs, Taylor I. Bingaman, Carrie-Ann Barry, Andrea Behlmann, Krista Bluske, Bret Bostwick, Alison Bright, Chun-An Chen, Amanda R. Clause, Avinash V. Dharmadhikari, Mythily Ganapathi, Claudia Gonzaga-Jauregui, Andrew R. Grant, Madeline Y. Hughes, Se Rin Kim, Amanda Krause, Jun Liao, Aimé Lumaka, Michelle Mah, Caitlin M. Maloney, Shruthi Mohan, Ikeoluwa A. Osei-Owusu, Emma Reble, Olivia Rennie, Juliann M. Savatt, Hermela Shimelis, Rebecca K. Siegert, Tam P. Sneddon, Courtney Thaxton, Kelly A. Toner, Kien Trung Tran, Ryan Webb, Emma H. Wilcox, Jiani Yin, Xinming Zhuo, Masa Znidarsic, Christa Lese Martin, Catalina Betancur, Jacob A.S. Vorstman, David T. Miller, Christian P. Schaaf
Publikováno v:
Genetics in Medicine
Genetics in Medicine, 2022, 24 (9), pp.1899-1908. ⟨10.1016/j.gim.2022.05.001⟩
Genetics in Medicine, 2022, 24 (9), pp.1899-1908. ⟨10.1016/j.gim.2022.05.001⟩
International audience; Purpose: Neurodevelopmental disorders (NDDs), such as intellectual disability (ID) and autism spectrum disorder (ASD), exhibit genetic and phenotypic heterogeneity, making them difficult to differentiate without a molecular di
Autor:
Felix Marbach, Beata S. Lipska‐Ziętkiewicz, Agata Knurowska, Vincent Michaud, Henri Margot, James Lespinasse, Frédéric Tran Mau Them, Christine Coubes, Joohyun Park, Sarah Grosch, Cristiana Roggia, Ute Grasshoff, Louisa Kalsner, Anne‐Sophie Denommé‐Pichon, Alexandra Afenjar, Bénédicte Héron, Boris Keren, Pilar Caro, Christian P. Schaaf
Publikováno v:
American Journal of Medical Genetics Part A
American Journal of Medical Genetics Part A, 2022, 188 (9), pp.2627-2636. ⟨10.1002/ajmg.a.62884⟩
American Journal of Medical Genetics Part A, 2022, 188 (9), pp.2627-2636. ⟨10.1002/ajmg.a.62884⟩
International audience; We present the phenotypes of seven previously unreported patients with Marbach-Schaaf neurodevelopmental syndrome, all carrying the same recurrent heterozygous missense variant c.1003C>T (p.Arg335Trp) in PRKAR1B. Clinical feat
Autor:
Zeinab Awada, Léo Delmarre, Françoise Argoul, Etienne Harté, Anne Devin, Pierre Argoul, Boumediene Nedjar
Publikováno v:
Design and Modeling of Mechanical Systems-V
Design and Modeling of Mechanical Systems-V, Springer International Publishing, pp.93-102, 2023, Lecture Notes in Mechanical Engineering, ⟨10.1007/978-3-031-14615-2_12⟩
Design and Modeling of Mechanical Systems-V : Proceedings of the 9th Conference on Design and Modeling of Mechanical Systems, CMSM'2021
Design and Modeling of Mechanical Systems-V. CMSM 2021
Design and Modeling of Mechanical Systems-V. CMSM 2021, Dec 2021, Hammamet, Tunisia. pp.93-102, ⟨10.1007/978-3-031-14615-2_12⟩
Lecture Notes in Mechanical Engineering ISBN: 9783031146145
Design and Modeling of Mechanical Systems-V, Springer International Publishing, pp.93-102, 2023, Lecture Notes in Mechanical Engineering, ⟨10.1007/978-3-031-14615-2_12⟩
Design and Modeling of Mechanical Systems-V : Proceedings of the 9th Conference on Design and Modeling of Mechanical Systems, CMSM'2021
Design and Modeling of Mechanical Systems-V. CMSM 2021
Design and Modeling of Mechanical Systems-V. CMSM 2021, Dec 2021, Hammamet, Tunisia. pp.93-102, ⟨10.1007/978-3-031-14615-2_12⟩
Lecture Notes in Mechanical Engineering ISBN: 9783031146145
International audience
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8b2eb4a5cd06288dacb42ac5c6fc5583
https://hal.science/hal-03863641
https://hal.science/hal-03863641
Autor:
Lallemant, Louison, Braz, Sandra, González-Barriga, Anchel, Magneron, Paul, Cordier, Aurélien, Huguet-Lachon, Aline, Schmitt, Alain, Langui, Dominique, Auboeuf, Didier, Martinat, Cécile, Bourgeois, Cyril F, Gourdon, Geneviève, Gomes-Pereira, Mário
Publikováno v:
The European Meeting on Glial Cells in Health and Disease
The European Meeting on Glial Cells in Health and Disease, Jul 2023, Berlin, France
The European Meeting on Glial Cells in Health and Disease, Jul 2023, Berlin, France
International audience; Myotonic dystrophy type 1 (DM1) is a neuromuscular disorder, characterised by cognitive and behavioural impairment, in addition to the typical muscle pathology. Imaging studies revealed widespread white matter lesions in DM1 p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::87b3139823ec15ca6a3092624f6171e1
https://hal.science/hal-04005524
https://hal.science/hal-04005524
Publikováno v:
The CRISPR Journal
The CRISPR Journal, 2022, ⟨10.1089/crispr.2021.0141⟩
The CRISPR Journal, 2022, ⟨10.1089/crispr.2021.0141⟩
International audience; Inherited retinal dystrophies (IRDs) are a heterogeneous group of diseases that affect more than 2 million people worldwide. Gene therapy (GT) has emerged as an exciting treatment modality with the potential to provide longter