An overview of treatment strategies for Hutchinson-Gilford Progeria syndrome

Por Harhouri, Karim, Frankel, Diane, Bartoli, Catherine, Roll, Patrice, De Sandre-Giovannoli, Annachiara, Lévy, Nicolas
Publicado no Nucleus (2018)

An overview of new translational, clinical and therapeutic perspectives in laminopathies and other nuclear envelope-related diseases.

Por De Sandre-Giovannoli, Annachiara, Levy, Nicolas, Ben Yaou, Rabah, Leturcq, France, Lattanzi, Giovanna, Bonne, Gisèle
Publicado no Orphanet J Rare Dis (2015)

MicroRNAs in hereditary and sporadic premature aging syndromes and other laminopathies

Por Frankel, Diane, Delecourt, Valérie, Harhouri, Karim, De Sandre‐Giovannoli, Annachiara, Lévy, Nicolas, Kaspi, Elise, Roll, Patrice
Publicado no Aging Cell (2018)

A Collodion Baby with Facial Dysmorphism, Limb Anomalies, Pachygyria and Genital Hypoplasia: A Mild Form of Neu-Laxova Syndrome or a New Entity?

Por Özcan, Deren, Derbent, Murat, Seçkin, Deniz, Bikmaz, Yunus Emre, Ağildere, Muhteşem, De Sandre-Giovannoli, Annachiara, Lévy, Nicolas, Gürakan, Berkan
Publicado em 2013

MG132‐induced progerin clearance is mediated by autophagy activation and splicing regulation

Por Harhouri, Karim, Navarro, Claire, Depetris, Danielle, Mattei, Marie‐Geneviève, Nissan, Xavier, Cau, Pierre, De Sandre‐Giovannoli, Annachiara, Lévy, Nicolas
Publicado no EMBO Mol Med (2017)

Antisense-Based Progerin Downregulation in HGPS-Like Patients’ Cells

Por Harhouri, Karim, Navarro, Claire, Baquerre, Camille, Da Silva, Nathalie, Bartoli, Catherine, Casey, Frank, Mawuse, Guedenon Koffi, Doubaj, Yassamine, Lévy, Nicolas, De Sandre-Giovannoli, Annachiara
Publicado no Cells (2016)

Exome sequencing identifies a novel mutation in PIK3R1 as the cause of SHORT syndrome

Por Bárcena, Clea, Quesada, Víctor, De Sandre-Giovannoli, Annachiara, Puente, Diana A, Fernández-Toral, Joaquín, Sigaudy, Sabine, Baban, Anwar, Lévy, Nicolas, Velasco, Gloria, López-Otín, Carlos
Publicado em 2014

A High Throughput Phenotypic Screening reveals compounds that counteract premature osteogenic differentiation of HGPS iPS-derived mesenchymal stem cells

Por Lo Cicero, Alessandra, Jaskowiak, Anne-Laure, Egesipe, Anne-Laure, Tournois, Johana, Brinon, Benjamin, Pitrez, Patricia R., Ferreira, Lino, de Sandre-Giovannoli, Annachiara, Levy, Nicolas, Nissan, Xavier
Publicado no Sci Rep (2016)

Pathological modelling of pigmentation disorders associated with Hutchinson-Gilford Progeria Syndrome (HGPS) revealed an impaired melanogenesis pathway in iPS-derived melanocytes

Por Lo Cicero, Alessandra, Saidani, Manoubia, Allouche, Jennifer, Egesipe, Anne Laure, Hoch, Lucile, Bruge, Celine, Sigaudy, Sabine, De Sandre-Giovannoli, Annachiara, Levy, Nicolas, Baldeschi, Christine, Nissan, Xavier
Publicado no Sci Rep (2018)

Homozygous Defects in LMNA, Encoding Lamin A/C Nuclear-Envelope Proteins, Cause Autosomal Recessive Axonal Neuropathy in Human (Charcot-Marie-Tooth Disorder Type 2) and Mouse

Por De Sandre-Giovannoli, Annachiara, Chaouch, Malika, Kozlov, Serguei, Vallat, Jean-Michel, Tazir, Meriem, Kassouri, Nadia, Szepetowski, Pierre, Hammadouche, Tarik, Vandenberghe, Antoon, Stewart, Colin L., Grid, Djamel, Lévy, Nicolas
Publicado em 2002

Induced Pluripotent Stem Cells Reveal Functional Differences Between Drugs Currently Investigated in Patients With Hutchinson-Gilford Progeria Syndrome

Por Blondel, Sophie, Jaskowiak, Anne-Laure, Egesipe, Anne-Laure, Le Corf, Amelie, Navarro, Claire, Cordette, Véronique, Martinat, Cécile, Laabi, Yacine, Djabali, Karima, de Sandre-Giovannoli, Annachiara, Levy, Nicolas, Peschanski, Marc, Nissan, Xavier
Publicado em 2014

Type B mandibuloacral dysplasia with congenital myopathy due to homozygous ZMPSTE24 missense mutation

Por Yaou, Rabah Ben, Navarro, Claire, Quijano-Roy, Susana, Bertrand, Anne T, Massart, Catherine, De Sandre-Giovannoli, Annachiara, Cadiñanos, Juan, Mamchaoui, Kamel, Butler-Browne, Gillian, Estournet, Brigitte, Richard, Pascale, Barois, Annie, Lévy, Nicolas, Bonne, Gisèle
Publicado em 2011

Low lamin A expression in lung adenocarcinoma cells from pleural effusions is a pejorative factor associated with high number of metastatic sites and poor Performance status

Por Kaspi, Elise, Frankel, Diane, Guinde, Julien, Perrin, Sophie, Laroumagne, Sophie, Robaglia-Schlupp, Andrée, Ostacolo, Kevin, Harhouri, Karim, Tazi-Mezalek, Rachid, Micallef, Joelle, Dutau, Hervé, Tomasini, Pascale, De Sandre-Giovannoli, Annachiara, Lévy, Nicolas, Cau, Pierre, Astoul, Philippe, Roll, Patrice
Publicado no PLoS One (2017)

Truncated prelamin A expression in HGPS-like patients: a transcriptional study

Por Barthélémy, Florian, Navarro, Claire, Fayek, Racha, Da Silva, Nathalie, Roll, Patrice, Sigaudy, Sabine, Oshima, Junko, Bonne, Gisèle, Papadopoulou-Legbelou, Kyriaki, Evangeliou, Athanasios E, Spilioti, Martha, Lemerrer, Martine, Wevers, Ron A, Morava, Eva, Robaglia-Schlupp, Andrée, Lévy, Nicolas, Bartoli, Marc, De Sandre-Giovannoli, Annachiara
Publicado no Eur J Hum Genet (2015)

New ZMPSTE24 (FACE1) mutations in patients affected with restrictive dermopathy or related progeroid syndromes and mutation update

Por Navarro, Claire Laure, Esteves-Vieira, Vera, Courrier, Sébastien, Boyer, Amandine, Duong Nguyen, Thuy, Huong, Le Thi Thanh, Meinke, Peter, Schröder, Winnie, Cormier-Daire, Valérie, Sznajer, Yves, Amor, David J, Lagerstedt, Kristina, Biervliet, Martine, van den Akker, Peter C, Cau, Pierre, Roll, Patrice, Lévy, Nicolas, Badens, Catherine, Wehnert, Manfred, De Sandre-Giovannoli, Annachiara
Publicado no Eur J Hum Genet (2014)