Recherche - Archive ouverte HAL Accéder directement au contenu

Filtrer vos résultats

20 résultats
Image document

Lamines A et syndromes progéroïdes. Une farnésylation persistante aux conséquences dramatiques

Claire L. Navarro , Yannick Poitelon , Nicolas Lévy
Médecine/Sciences, 2008, 24 (10), pp.833 - 840. ⟨10.1051/medsci/20082410833⟩
Article dans une revue hal-01669172v1

A conserved splicing mechanism of the LMNA gene controls premature aging

Isabel Cristina Lopez-Mejia , Valentin Vautrot , Marion de Toledo , Isabelle Behm-Ansmant , Cyril Bourgeois , et al.
Human Molecular Genetics, 2011, 20 (23), pp.4540-4555. ⟨10.1093/hmg/ddr385⟩
Article dans une revue hal-03034380v1
Image document

Nuclear matrix, nuclear envelope and premature aging syndromes in a translational research perspective

Pierre Cau , Claire L. Navarro , Karim Harhouri , Patrice Roll , Sabine Sigaudy , et al.
Seminars in Cell and Developmental Biology, 2014, 29, pp.125-147. ⟨10.1016/j.semcdb.2014.03.021⟩
Article dans une revue hal-01646524v1

Texture indexes and gray level size zone matrix. Application to cell nuclei classification

Guillaume Thibault , Bernard Fertil , Claire L. Navarro , Sandrine Pereira , Pierre Cau , et al.
10th International Conference on Pattern Recognition and Information Processing, PRIP 2009, 2009, Minsk, Belarus. pp.140--145
Communication dans un congrès hal-01499715v1

Shape and texture indexes - Application to cell nuclei classification

Guillaume Thibault , Bernard Fertil , Sandrine Pereira , Claire L. Navarro , Pierre Cau , et al.
International Journal of Pattern Recognition and Artificial Intelligence (IJPRAI), 2013, 27 (1), ⟨10.1142/S0218001413570024⟩
Article dans une revue hal-01341021v1
Image document

A New Lamin A Mutation Associated with Acrogeria Syndrome

Smail Hadj-Rabia , Jacob Mashiah , Patrice Roll , Amandine Boyer , Patrice Bourgeois , et al.
Journal of Investigative Dermatology, 2014, 134 (8), pp.2274-2277. ⟨10.1038/jid.2014.158⟩
Article dans une revue hal-01669120v1
Image document

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

Florian Barthelemy , Claire L. Navarro , Racha Fayek , Nathalie da Silva , Patrice Roll , et al.
European Journal of Human Genetics, 2015, 23 (8), pp.1051 - 1061. ⟨10.1038/ejhg.2014.239⟩
Article dans une revue hal-01597886v1
Image document

Random walk with restart on multiplex and heterogeneous biological networks

Alberto Valdeolivas , Laurent Tichit , Claire L. Navarro , Sophie Perrin , Gaelle Odelin , et al.
Bioinformatics, 2019, ⟨10.1101/134734⟩
Article dans une revue hal-01946427v1

Substrate Topography Modulates Cell Aging on a Progeria Cell Model

Patricia R. Pitrez , Luis Estronca , Helena Vazao , Anne-Laure Egesipe , Amelie Le Corf , et al.
ACS Biomaterials Science and Engineering, 2018, 4 (5), pp.1498-1504
Article dans une revue hal-02000326v1
Image document

Drug screening on Hutchinson Gilford progeria pluripotent stem cells reveals aminopyrimidines as new modulators of farnesylation

S. Blondel , Anne-Laure Egesipe , P. Picardi , M. Jaskowiak , M Notarnicola , et al.
Cell Death and Disease, 2016, 7, pp.e2105. ⟨10.1038/cddis.2015.374⟩
Article dans une revue hal-01469712v1

Combined treatment with statins and aminobisphosphonates extends longevity in a mouse model of human premature aging.

Ignacio Varela , Sandrine Pereira , Alejandro P. Ugalde , Claire L. Navarro , María F. Suárez , et al.
Nature Medicine, 2008, 14 (7), pp.767-72. ⟨10.1038/nm1786⟩
Article dans une revue inserm-00376425v1
Image document

A recurrent homozygous LMNA missense variant p.Thr528Met causes atypical progeroid syndrome characterized by mandibuloacral dysostosis, severe muscular dystrophy, and skeletal deformities

Abdelkrim Saadi , Claire L. Navarro , Ozge Ozalp , Charles Marques Lourenco , Racha Fayek , et al.
American Journal of Medical Genetics Part A, 2023, ⟨10.1002/ajmg.a.63335⟩
Article dans une revue hal-04254203v1
Image document

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

Karim Harhouri , Claire L. Navarro , Danielle Depetris , Marie-Genevieve Mattei , Xavier Nissan , et al.
EMBO Molecular Medicine, 2017, 9 (9), pp.1294-1313. ⟨10.15252/emmm.201607315⟩
Article dans une revue hal-01741719v1
Image document

Loss of ZMPSTE24 (FACE-1) causes autosomal recessive restrictive dermopathy and accumulation of Lamin A precursors

Claire L. Navarro , Juan Cadiñanos , Annachiara de Sandre-Giovannoli , Rafaelle Bernard , Sebastien Courrier , et al.
Human Molecular Genetics, 2005, 14 (11), pp.1503 - 1513. ⟨10.1093/hmg/ddi159⟩
Article dans une revue hal-01669073v1
Image document

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

Patricia R Pitrez , Luís Estronca , Luís Miguel Monteiro , Guillem Colell , Helena Vazão , et al.
Nature Communications, 2020, 11 (1), pp.4110. ⟨10.1038/s41467-020-17901-2⟩
Article dans une revue inserm-02962684v1
Image document

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

Karim Harhouri , Claire L. Navarro , Camille Baquerre , Nathalie da Silva , Catherine Bartoli , et al.
Cells, 2016, 5 (3), pp.31. ⟨10.3390/cells5030031⟩
Article dans une revue hal-01769404v1
Image document

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

Rabah Ben Yaou , Claire L. Navarro , Susana Quijano-Roy , Anne T. Bertrand , Catherine Massart , et al.
European Journal of Human Genetics, 2011, ⟨10.1038/ejhg.2010.256⟩
Article dans une revue hal-00611256v1
Image document

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

Claire L. Navarro , Vera Esteves-Vieira , Sebastien Courrier , Amandine Boyer , Thuy Duong Nguyen , et al.
European Journal of Human Genetics, 2013, 22 (8), pp.1002-1011. ⟨10.1038/ejhg.2013.258⟩
Article dans une revue hal-01664301v1
Image document

VULNERABILITY OF PROGEROID SMOOTH MUSCLE CELLS TO ARTERIAL SHEAR STRESS IS MEDIATED BY MMP13

Patricia Pitrez , Luis Estronca , Luis Monteiro , Guillem Colell , Helena Vazão , et al.
Nature Communications, 2022, 28 (1), pp.S340. ⟨10.1038/s41467-020-17901-2⟩
Article dans une revue hal-03780360v1
Image document

Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy

Claire L. Navarro , Annachiara de Sandre-Giovannoli , Rafaelle Bernard , Irène Boccaccio , Amandine Boyer , et al.
Human Molecular Genetics, 2004, 13 (20), pp.2493 - 2503. ⟨10.1093/hmg/ddh265⟩
Article dans une revue hal-01668977v1