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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
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et al.
Article dans une revue
hal-01597886v1
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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.
Article dans une revue
hal-01991357v1
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Substrate Topography Modulates Cell Aging on a Progeria Cell Model
Patricia R. Pitrez
,
Luis Estronca
,
Helena Vazao
,
Anne-Laure Egesipe
,
Amelie Le Corf
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et al.
ACS Biomaterials Science and Engineering, 2018, 4 (5), pp.1498-1504
Article dans une revue
hal-02000326v1
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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.
Article dans une revue
hal-01774301v1
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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
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
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France Leturcq
,
Giovanna Lattanzi
,
et al.
Article dans une revue
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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
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Sophie Perrin
,
Sophie Laroumagne
,
et al.
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.
Article dans une revue
hal-03788582v1
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The Treatabolome Database and Platform: enhancing Rare Diseases’ treatment visibility.
Carles Hernandez-Ferrer
,
Leslie Matalonga
,
Rachel Thompson
,
Leigh Carmody
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Davide Piscia
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et al.
European Human Genetics Virtual Conference 2021, Aug 2021, Virtual conference, United Kingdom
Poster de conférence
hal-03988844v1
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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.
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.
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.
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.
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.
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.
Article dans une revue
pasteur-03550460v1
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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
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Novel LMNA Mutation in Atypical Werner Syndrome Presenting With Ischemic Disease
Dimitri Renard
,
Genevieve Fourcade
,
Didier Milhaud
,
Didier Bessis
,
Vera Esteves-Vieira
,
et al.
Article dans une revue
hal-03509509v1
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The Treatabolome flags treatable genes and variants: an emerging concept
A Atalaia
,
C Hernandez Ferrer
,
A Corvó
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L Matalonga
,
R Thompson
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et al.
ERN Euro-NMD Webinar on Treatabolome, Oct 2021, Webinar, Germany
Communication dans un congrès
hal-03989142v1
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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.
Article dans une revue
hal-03113281v1
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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.
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.
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.
Article dans une revue
hal-02875148v1
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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.
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.
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.
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.
Article dans une revue
hal-04254203v1
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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.
Article dans une revue
pasteur-03546883v1
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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.
Article dans une revue
hal-01669073v1
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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.
Article dans une revue
hal-01741719v1
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