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Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotype

 Meena Balasubramanian , Alexander J M Dingemans , Shadi Albaba , Ruth Richardson , Thabo M Yates , et al.
European Journal of Human Genetics, In press, ⟨10.1038/s41431-020-00769-7⟩
Article dans une revue hal-03113281v1

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

 Annachiara de Sandre-Giovannoli , Malika Chaouch , Serguei Kozlov , Jean-Michel Vallat , Meriem Tazir , et al.
American Journal of Human Genetics, 2002, 70 (3), pp.726 - 736. ⟨10.1086/339274⟩
Article dans une revue hal-01724642v1

Novel LMNA Mutation in Atypical Werner Syndrome Presenting With Ischemic Disease

 Dimitri Renard , Genevieve Fourcade , Didier Milhaud , Didier Bessis , Vera Esteves-Vieira , et al.
Stroke, 2009, 40 (2), ⟨10.1161/STROKEAHA.108.531780⟩
Article dans une revue hal-03509509v1

The Treatabolome flags treatable genes and variants: an emerging concept

 A Atalaia , C Hernandez Ferrer , A Corvó , L Matalonga , R Thompson , et al.
ERN Euro-NMD Webinar on Treatabolome, Oct 2021, Webinar, Germany
Communication dans un congrès hal-03989142v1

Lamin A/C gene (LMNA) mutation associated with laminopathy: A rare cause of idiopathic acro-osteolysis

 Julie-Charlotte Lambert , Pauline Baudart , Annachiara de Sandre-Giovannoli , Arnaud Molin , Christian Marcelli
Joint Bone Spine, 2019, 86 (4), pp.525-527. ⟨10.1016/j.jbspin.2018.11.008⟩
Article dans une revue hal-02393579v1
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An overview of new translational, clinical and therapeutic perspectives in laminopathies and other nuclear envelope-related diseases.

 Annachiara de Sandre-Giovannoli , Nicolas Lévy , Rabah Ben Yaou , France Leturcq , Giovanna Lattanzi , et al.
Orphanet Journal of Rare Diseases, 2015, 10 (Suppl 2), ⟨10.1186/1750-1172-10-S2-I1⟩
Article dans une revue hal-01769449v1
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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

 Elise Kaspi , Diane Frankel , Julien Guinde , Sophie Perrin , Sophie Laroumagne , et al.
PLoS ONE, 2017, 12 (8), pp.e0183136. ⟨10.1371/journal.pone.0183136⟩
Article dans une revue hal-01597882v1
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miR-376a-3p and miR-376b-3p overexpression in Hutchinson-Gilford progeria fibroblasts inhibits cell proliferation and induces premature senescence

 Diane Frankel , Valerie Delecourt , Elva-María Novoa-Del-Toro , Jérôme Robin-Ducellier , Coraline Airault , et al.
iScience, 2022, 25 (2), pp.103757. ⟨10.1016/j.isci.2022.103757⟩
Article dans une revue hal-03788582v1

The Treatabolome Database and Platform: enhancing Rare Diseases’ treatment visibility.

 Carles Hernandez-Ferrer , Leslie Matalonga , Rachel Thompson , Leigh Carmody , Davide Piscia , et al.
European Human Genetics Virtual Conference 2021, Aug 2021, Virtual conference, United Kingdom
Poster de conférence hal-03988844v1
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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
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An overview of treatment strategies for Hutchinson-Gilford Progeria Syndrome

 Karim Harhouri , Diane Frankel , Catherine Bartoli , Patrice Roll , Annachiara de Sandre-Giovannoli , et al.
Nucleus, 2018, 9 (1), pp.265-276. ⟨10.1080/19491034.2018.1460045⟩
Article dans une revue hal-01774301v1
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Pathological modelling of pigmentation disorders associated with Hutchinson-Gilford Progeria Syndrome (HGPS) revealed an impaired melanogenesis pathway in iPS-derived melanocytes

 Alessandra Lo Cicero , Manoubia Saidani , Jennifer Allouche , Anne-Laure Egesipe , Lucile Hoch , et al.
Scientific Reports, 2018, 8 (1), ⟨10.1038/s41598-018-27165-y⟩
Article dans une revue hal-01991357v1

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

 Nehla Ghedira , Arnaud Lagarde , Karim Ben Ameur , Sahar Elouej , Rania Sakka , et al.
BMC Pediatrics, 2018, 18 (1), pp.286. ⟨10.1186/s12887-018-1259-8⟩
Article dans une revue pasteur-01882965v1
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Laminopathies’ Treatments Systematic Review: A Contribution Towards a ‘Treatabolome’

 Antonio Atalaia , Rabah Ben Yaou , Karim Wahbi , Annachiara de Sandre-Giovannoli , Corinne Vigouroux , et al.
Journal of Neuromuscular Diseases, 2021, pp.1 - 21. ⟨10.3233/jnd-200596⟩
Article dans une revue hal-03171665v1
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MicroRNAs in hereditary and sporadic premature aging syndromes and other laminopathies

 Diane Frankel , Valerie Delecourt , Sophie Perrin , Karim Harhouri , Annachiara de Sandre-Giovannoli , et al.
Aging Cell, 2018, 17 (4), pp.e12766. ⟨10.1111/acel.12766⟩
Article dans une revue hal-01925609v1
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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
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Case Report: Identification of Novel Variants in ERCC4 and DDB2 Genes in Two Tunisian Patients With Atypical Xeroderma Pigmentosum Phenotype

 Imen Nabouli , Asma Chikhaoui , Houcemeddine Othman , Sahar Elouej , Meriem Jones , et al.
Frontiers in Genetics, 2021, 12, pp.650639. ⟨10.3389/fgene.2021.650639⟩
Article dans une revue pasteur-03550460v1
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Exome sequencing reveals a de novo POLD1 mutation causing phenotypic variability in mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome (MDPL)

 Sahar Elouej , Ana Beleza-Meireles , Richard Caswell , Kevin Colclough , Sian Ellard , et al.
Metabolism, 2017, 71, pp.213-225. ⟨10.1016/j.metabol.2017.03.011⟩
Article dans une revue hal-01680909v1
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Exome sequencing identifies a novel mutation in PIK3R1 as the cause of SHORT syndrome.

 Clea Bárcena , Víctor Quesada , Annachiara de Sandre-Giovannoli , Diana Puente , Joaquín Fernández-Toral , et al.
BMC Medical Genetics, 2014, 15 (1), pp.51. ⟨10.1186/1471-2350-15-51⟩
Article dans une revue inserm-00991292v1
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Expanding the Spectrum of Neurological Manifestations in Cutis Laxa, Autosomal Recessive, Type IIIA

 Chloé Angelini , Marie Thibaud , Nathalie Aladjidi , Pierre Bessou , Sébastien Cabasson , et al.
Neuropediatrics, 2020, 51 (4), pp.245-250. ⟨10.1055/s-0040-1701671⟩
Article dans une revue hal-02875148v1

Novel LMNA mutations cause an aggressive atypical neonatal progeria without progerin accumulation

 Clara Soria-Valles , Dido Carrero , Elisabeth Gabau , Gloria Velasco , Víctor Quesada , et al.
Journal of Medical Genetics, 2016, 53 (11), pp.776-785. ⟨10.1136/jmedgenet-2015-103695⟩
Article dans une revue hal-01469060v1
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MG132 Induces Progerin Clearance and Improves Disease Phenotypes in HGPS-like Patients' Cells

 Karim Harhouri , Pierre Cau , Frank Casey , Koffi Mawuse Guedenon , Yassamine Doubaj , et al.
Cells, 2022, 11 (4), ⟨10.3390/cells11040610⟩
Article dans une revue hal-03678836v1
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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
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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

Treatabolome DB: linking gene and variants with treatments for rare diseases

 A. Corvó , L. Matalonga , C. Hernandez-Ferrer , R. Thompson , L. Carmody , et al.
Solve-RD, Solving the unsolved Rare Diseases Final Meeting 2023, Apr 2023, Prague, Czech Republic
Communication dans un congrès hal-04086225v1
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FANCA Gene Mutations in North African Fanconi Anemia Patients

 Abir Ben Haj Ali , Olfa Messaoud , Sahar Elouej , Faten Talmoudi , Wiem Ayed , et al.
Frontiers in Genetics, 2021, 12, pp.610050. ⟨10.3389/fgene.2021.610050⟩
Article dans une revue pasteur-03546883v1
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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
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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
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