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 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 2015

Laminopathies’ Treatments Systematic Review: A Contribution Towards a ‘Treatabolome’

por Atalaia, Antonio, Ben Yaou, Rabah, Wahbi, Karim, De Sandre-Giovannoli, Annachiara, Vigouroux, Corinne, Bonne, Gisèle
Publicado 2021

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 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 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 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 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 2014

MG132 Induces Progerin Clearance and Improves Disease Phenotypes in HGPS-like Patients’ Cells

por Harhouri, Karim, Cau, Pierre, Casey, Frank, Guedenon, Koffi Mawuse, Doubaj, Yassamine, Van Maldergem, Lionel, Mejia-Baltodano, Gerardo, Bartoli, Catherine, De Sandre-Giovannoli, Annachiara, Lévy, Nicolas
Publicado 2022

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 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 2018

Mesenchymal stem cells derived from patients with premature aging syndromes display hallmarks of physiological aging

por Trani, Jean Philippe, Chevalier, Raphaël, Caron, Leslie, El Yazidi, Claire, Broucqsault, Natacha, Toury, Léa, Thomas, Morgane, Annab, Karima, Binetruy, Bernard, De Sandre-Giovannoli, Annachiara, Levy, Nicolas, Magdinier, Frédérique, Robin, Jérôme D
Publicado 2022

Identification of a ERCC5 c.2333T>C (L778P) Variant in Two Tunisian Siblings With Mild Xeroderma Pigmentosum Phenotype

por Chikhaoui, Asma, Elouej, Sahar, Nabouli, Imen, Jones, Meriem, Lagarde, Arnaud, Ben Rekaya, Meriem, Messaoud, Olfa, Hamdi, Yosr, Zghal, Mohamed, Delague, Valerie, Levy, Nicolas, De Sandre-Giovannoli, Annachiara, Abdelhak, Sonia, Yacoub-Youssef, Houda
Publicado 2019

Case Report: Identification of Novel Variants in ERCC4 and DDB2 Genes in Two Tunisian Patients With Atypical Xeroderma Pigmentosum Phenotype

por Nabouli, Imen, Chikhaoui, Asma, Othman, Houcemeddine, Elouej, Sahar, Jones, Meriem, Lagarde, Arnaud, Rekaya, Meriem Ben, Messaoud, Olfa, Zghal, Mohamed, Delague, Valerie, Levy, Nicolas, De Sandre-Giovannoli, Annachiara, Abdelhak, Sonia, Yacoub-Youssef, Houda
Publicado 2021

Clinical profile of comorbidity of rare diseases in a Tunisian patient: a case report associating incontinentia pigmenti and Noonan syndrome

por Ghedira, Nehla, Lagarde, Arnaud, Ben Ameur, Karim, Elouej, Sahar, Sakka, Rania, Kerkeni, Emna, Chioukh, Fatma-Zohra, Olschwang, Sylviane, Desvignes, Jean-Pierre, Abdelhak, Sonia, Delague, Valerie, Lévy, Nicolas, Monastiri, Kamel, De Sandre-Giovannoli, Annachiara
Publicado 2018

FANCA Gene Mutations in North African Fanconi Anemia Patients

por Ben Haj Ali, Abir, Messaoud, Olfa, Elouej, Sahar, Talmoudi, Faten, Ayed, Wiem, Mellouli, Fethi, Ouederni, Monia, Hadiji, Sondes, De Sandre-Giovannoli, Annachiara, Delague, Valérie, Lévy, Nicolas, Bogliolo, Massimo, Surrallés, Jordi, Abdelhak, Sonia, Amouri, Ahlem
Publicado 2021

miR-376a-3p and miR-376b-3p overexpression in Hutchinson-Gilford progeria fibroblasts inhibits cell proliferation and induces premature senescence

por Frankel, Diane, Delecourt, Valérie, Novoa-del-Toro, Elva-María, Robin, Jérôme D., Airault, Coraline, Bartoli, Catherine, Carabalona, Aurélie, Perrin, Sophie, Mazaleyrat, Kilian, De Sandre-Giovannoli, Annachiara, Magdinier, Frederique, Baudot, Anaïs, Lévy, Nicolas, Kaspi, Elise, Roll, Patrice
Publicado 2022

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 2017

Outcomes of 4 years of molecular genetic diagnosis on a panel of genes involved in premature aging syndromes, including laminopathies and related disorders

por Grelet, Maude, Blanck, Véronique, Sigaudy, Sabine, Philip, Nicole, Giuliano, Fabienne, Khachnaoui, Khaoula, Morel, Godelieve, Grotto, Sarah, Sophie, Julia, Poirsier, Céline, Lespinasse, James, Alric, Laurent, Calvas, Patrick, Chalhoub, Gihane, Layet, Valérie, Molin, Arnaud, Colson, Cindy, Marsili, Luisa, Edery, Patrick, Lévy, Nicolas, De Sandre-Giovannoli, Annachiara
Publicado 2019

Vulnerability of progeroid smooth muscle cells to biomechanical forces is mediated by MMP13

por Pitrez, Patricia R., Estronca, Luís, Monteiro, Luís Miguel, Colell, Guillem, Vazão, Helena, Santinha, Deolinda, Harhouri, Karim, Thornton, Daniel, Navarro, Claire, Egesipe, Anne-Laure, Carvalho, Tânia, Dos Santos, Rodrigo L., Lévy, Nicolas, Smith, James C., de Magalhães, João Pedro, Ori, Alessandro, Bernardo, Andreia, De Sandre-Giovannoli, Annachiara, Nissan, Xavier, Rosell, Anna, Ferreira, Lino
Publicado 2020