Garder des muscles forts : de l’identification des gènes au développement de traitements pour les maladies neuromusculaires héréditaires

Tous nos muscles sont capables de produire une force qui se traduit en mouvement. Il existe trois types de tissus musculaires : les muscles cardiaques, qui sont uniques au cœur, les muscles lisses, qui constituent le support de tous nos organes et vaisseaux sanguins, et les muscles squelettiques qui pour la plupart sont attachés aux os et sont responsables de la locomotion. Parmi ces trois types de muscles, seuls les muscles squelettiques sont soumises à notre contrôle volontaire.

Les maladies neuromusculaires héréditaires (NMDs pour ‘NeuroMuscular Disorders’) forment un groupe hétérogène de maladies qui affecte la fonction des muscles squelettiques. Elles sont caractérisées par un affaiblissement progressif des muscles ainsi qu’une perte de masse musculaire et peuvent entraîner des handicaps chroniques, représentant ainsi une lourde charge à porter pour les patients et leurs familles, ainsi que pour nos systèmes de santé publique. Ces maladies peuvent être divisées en deux groupes : les myopathies qui sont associées à des défauts dans la structure elle-même des muscles, et les neuropathies qui elles sont des maladies du système nerveux dues à des défauts dans les nerfs qui contrôlent les mouvements musculaires. Comme pour l’étude de toute autre maladie génétique, une étape cruciale dans l’étude des NMDs consiste en l’identification des gènes qui en sont responsables. Ceci est important non seulement pour pouvoir mieux diagnostiquer ces troubles, mais aussi pour comprendre les mécanismes moléculaires pathologiques qui entraînent le développement des maladies, et pouvoir développer de nouvelles stratégies thérapeutiques. Le département NeMus combine des approches multi-omiques, des données cliniques, des échantillons biologiques, des modèles prédictifs et des outils bioinformatiques pour étudier les NMDs. Cette approche polyvalente a permis à ses scientifiques d’apporter d’importantes avancées au domaine des NMDs dont notamment une nouvelle approche thérapeutique prometteuse.

La dernière décennie a vu le développement du séquençage de nouvelle génération (NGS) qui a révolutionné les domaines de la recherche et du diagnostic. Il est désormais possible de séquencer rapidement les génomes des patients, ce qui permet de collecter et de comparer un nombre incroyable de données génomiques, extrêmement utiles pour identifier les causes génétiques de diverses maladies. Cette technologie a été fondamentale au département NeMus dans l’identification de nombreux gènes et mutations impliqués dans les maladies neuromusculaires.



L’analyse de l’incroyable masse de données issues du NGS et leur comparaison à des profils cliniques complexes nécessitent cependant le développement de systèmes et d’outils bioinformatique solides. L’équipe « Bioinformatique et Génétique » dirigée par le Pr. Christophe Béroud a développé plusieurs systèmes de référence pour répondre à toutes les étapes de la recherche translationnelle et qui sont aujourd’hui les systèmes les plus performants dans la prédiction de pathogénicité (UMD-Predictor et HSF couplés au système d’annotation et de filtration VarAFT). Leur objectif est d’identifier rapidement les mutations responsables des maladies en question parmi la masse de variation génétique ‘innocente’ que l’on trouve normalement dans les génomes de différents individus.  Grâce à cette expertise, l’équipe dirige les études cliniques bioinformatiques du Projet Européen RD-Connect FP7 et travaille à présent sur la construction de deux bases de données relatives aux maladies rares, la première répertoriant les variations de nombre de copies dans ces maladies (BAnque Nationale des CNV COnstitutionnels – BANCCO), et la deuxième répertoriant tous les variants génétiques identifiés par NGS (French Rare Disease Variant Database - RDVD). Les chercheurs ont par ailleurs établit des bases de données dénombrant les mutations trouvées dans divers gènes impliqués dans le cancer, notamment pour les gènes BRCA1 et BRCA2 impliqués dans le cancer du sein et des ovaires, ou encore dans des gènes responsables de NMDs. Ils ont également établit des registres de patients  qui rassemblent les renseignements génétiques et cliniques connus pour une maladie donnée. Les chercheurs ont par exemple développé les registres globaux du réseau TREAT-NMD, ainsi que l’Observatoire National Français des patients atteints de dystrophie musculaire Facio-Scapulo-Humérale (DMFSH), une maladie qui touche essentiellement les muscles du visage, des épaules et des avant-bras. Ce dernier contient les données de plus de 450 patients et est aujourd’hui le plus important registre de patients DMFSH au monde.

L’étude des données cliniques et génétiques de la DMFSH est essentielle pour comprendre les mécanismes moléculaires qui mènent au développement de la pathologie, une quête qui occupe le laboratoire du Dr. Frédérique Magdinier depuis plusieurs années.

La plupart des patients atteints de DMFSH (95%) sont porteurs d’une mutation génétique sur le chromosome 4, en position 4q35. Elle est située à proximité d’une des extrémités du chromosome, appelées télomères, dans la région dite subtélomérique. Cette région contient une ‘répétition D4Z4’, une séquence d’ADN dans laquelle une unité de base D4Z4 est répétée plusieurs fois en tandem. Les individus non atteints portent normalement entre 11 et 150 unités D4Z4 à ce site, alors que les patients DMFSH portent une mutation qui consiste en une contraction de la répétition avec seulement 1 à 10 de ces unités. Cependant, contrairement à d’autres maladies génétiques, cette mutation se situe en dehors de tout gène et n’altère donc pas la fonction d’une protéine. Par contre, elle interfère localement avec la chromatine, la structure qui emballe et compacte l’ADN à l’intérieur du noyau de la cellule. L’ADN peut être plus ou moins compacté, ce qui le rend plus au moins accessible et permissif à l’expression des gènes qu’il comporte. Chez les individus sains, les répétitions D4Z4 sont associées à une chromatine hautement compactée et une expression quasi-nulle des gènes avoisinants. Ces deux caractéristiques sont cependant perdues chez les patients DMFSH porteurs de la contraction D4Z4.

Les chercheurs du laboratoire de Dr. Frédérique Magdinier ont apporté d’importants éléments de réponse à ces observations. Ils ont en effet démontré il y a quelques années que la version courte de la répétition D4Z4 est capable d’interagir avec CTCF, une protéine capable de modifier la structure de la chromatine. De plus, l’équipe a révélé que cette même version courte de la répétition D4Z4 est relocalisée à la périphérie du noyau, sous-domaine nucléaire impliqué dans la régulation de la chromatine.

D’un point de vue clinique, les premiers signes de DMFSH n’apparaissent normalement qu’à partir de l’adolescence, ce qui signifie que les patients présentent des muscles d’apparence normale pendant au moins une dizaine d’années. Pour comprendre pourquoi ces muscles fonctionnels tout à coup deviennent défaillants, le Dr. Frédérique Magdinier et son équipe ont décidé de s’intéresser aux caractéristiques moléculaires des muscles présymptomatiques au cours du développement.

«  Nous avons observé que chez le fœtus les muscles présentent déjà des défauts similaires à ceux de patients DMFSH adultes », explique le Dr. Frédérique Magdinier. « De plus, l’expression des gènes impliqués dans le développement musculaire est globalement dérégulée. Nos résultats ont ainsi révélé que malgré l’apparence normale des muscles avant l’apparition des premiers symptômes chez les patients, des défauts existent déjà au cours du développement embryonnaire ».

Par l’étude de larges cohortes de patients présentant les signes typiques de la DMFSH, ainsi que d’individus sains porteurs de la mutation, l’équipe a par ailleurs découvert que la méthylation de l’ADN, un des changements épigénétiques caractéristiques de la maladie, présente des niveaux extrêmement variables entre individus.  Les chercheurs ont également identifié des réarrangements chromosomiques complexes chez certains patients, soulignant ainsi la complexité du locus D4Z4 lié à la maladie.

L’ensemble de ces résultats démontre qu’il est crucial d’étudier en détail les changements épigénétiques et la structure de la chromatine au cours du développement musculaire pour comprendre les mécanismes pathologiques qui mènent à la DMFSH. Les projets de l’équipe visent à étudier la différentiation des cellules musculaires, ainsi que les mécanismes moléculaires qui expliquent le lien entre l’organisation structurale du locus 4q35 et la pathologie.  Pour cela, les chercheurs développent actuellement de nouveaux modèles cellulaires de la maladie dont des modèles basés sur des cellules iPS (cellules pluripotentes induites).

Les dysferlinopathies sont un groupe de maladies neuromusculaires très hétérogènes qui présentent des symptomes plus ou moins sévères. Elles sont toutes liées à des mutations du gène de la Dysferline (DYSF) qui code pour une large protéine nécessaire lors de la survenue d’une lésion pour réparer la membrane enveloppant les fibres musculaires. À ce jour,  plus de 400 mutations différentes dans le gène ont été associées à des maladies de cette famille. Les chercheurs du MMG ont beaucoup d’expérience dans le diagnostic des dysferlinopathies et ont largement contribué à identifier ces mutations. Dans le cadre de ses activités de diagnostic, le laboratoire du Dr. Marc Bartoli a récemment créé une base de données publique qui rassemble toutes les mutations identifiées chez des patients et leurs familles, ainsi que les données cliniques disponibles pour chaque individu. Cette base de données est un outil essentiel pour cliniciens et chercheurs afin de mieux comprendre ces maladies.

Au delà de l’intérêt que l’équipe porte au diagnostic, le Dr. Marc Bartoli et ses collègues cherchent à développer des stratégies thérapeutiques pour le traitement des dysferlinopathies. Ils travaillent actuellement sur le développement d’une méthode basé sur le saut d’exon, une technique qui exploite la structure même des gènes et les mécanismes qu‘ils subissent lors de leur expression.

Le saut d’exon – en quoi consiste-t-il?

Les gènes sont composés de deux types d ‘éléments intercalés: les exons et les introns. Les exons contiennent les séquences qui seront traduites en protéine, alors que les introns sont des séquences non-codantes qui devront être éliminés avant cette traduction. La première étape de l’expression d’un gène est sa transcription, un processus par lequel l’ensemble des exons et des introns du gène est recopié sous forme d’un acide nucléique appelé ARN. Les introns sont ensuite excisés et les exons accolés les uns aux autres par un mécanisme appelé épissage. L’ARN mature qui en résulte est finalement traduit en protéine.

Le saut d’exon est une technique utilisée en thérapie génique qui exploite le mécanisme d’épissage de l’ARN. Son but est d’induire l’épissage de l’exon porteur de la mutation délétère de telle façon à ce qu’il ne soit plus traduit. La protéine ainsi produite est incomplète et peut ne pas être entièrement fonctionnelle, mais dans certains cas elle l’est suffisamment pour corriger les défauts causés par la protéine mutée. Cette méthode s’est avérée prometteuse pour le traitement de la myopathie de Duchenne, une maladie génétique provoquant une dégénérescence progressive de l’ensemble des muscles.

Le saut exon peut-il être utilisé pour traiter les dysferlinopathies ?

La première tentative de saut d’exon entreprise par l’équipe du Dr. Marc Bartoli se base sur un patient porteur d’une version du gène DYSF dépourvue de son exon 32 mais atteint d’une dysferlinopathie légère. Les chercheurs ont donc pensé qu’une protéine dépourvue de l’information contenue dans cet exon devait être suffisamment fonctionnelle pour corriger des cas de dysferlinopathies plus sévères.

« Nous avons étudié l’effet du saut de l’exon 32 sur des cellules dérivées de deux patients. De manière surprenante, alors que la nouvelle protéine ne s’exprime que faiblement, les cellules sont devenues compétentes pour réparer des lésions au niveau de leurs membranes, indiquant que la thérapie fonctionne correctement»,  déclare le Dr. Marc Bartoli.

Ces résultats démontrent le potentiel de la technique de saut d’exon pour le traitement des dysferlinopathies. Alors que des études pré-cliniques chez la souris sont en cours pour le saut de l’exon 32 de la dysferline, l’équipe développe des approches similaires pour le traitement d’autres maladies neuromusculaires.

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26th Annual Facioscapulohumeral Dystrophy International Research Congress Marseille, France, 19-20 June 2019


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Warnez-Soulie, J.  et al. 2019

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Dysferlin Exon 32 Skipping in Patient Cells

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Barthélémy, F.  et al. 2018

Dysferlin Exon 32 Skipping in Patient Cells

Dysferlinopathies are rare genetic diseases affecting muscles due to mutations in DYSF. Exon 32 of DYSF has been shown to be dispensable for dysferlin functions. Here we present a method to visualize...
Methods Mol. Biol. - issue: - volume: 1828 - pages: 489-496.

Ghedira, N.  et al. 2018

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

BACKGROUND: Noonan syndrome (NS) is an autosomal dominant multisystem disorder caused by the dysregulation of several genes belonging to the RAS Mitogen Activated Protein Kinase (MAPK) signaling...
BMC Pediatr - issue: 1 - volume: 18 - pages: 286.

Auguste, Y.  et al. 2018

Loss of Calmodulin- and Radial-Spoke-Associated Complex Protein CFAP251 Leads to Immotile Spermatozoa Lacking Mitochondria and Infertility in Men

Flagella and motile cilia share a 9 + 2 microtubule-doublet axoneme structure, and asthenozoospermia (reduced spermatozoa motility) is found in 76% of men with primary ciliary dyskinesia (PCD)....
Am. J. Hum. Genet. - issue: 3 - volume: 103 - pages: 413-420.

Desvignes, J.  et al. 2018

VarAFT: a variant annotation and filtration system for human next generation sequencing data

With the rapidly developing high-throughput sequencing technologies known as next generation sequencing or NGS, our approach to gene hunting and diagnosis has drastically changed. In <10 years, these...
Nucleic Acids Res. - issue: W1 - volume: 46 - pages: W545-W553.

Yauy, K.  et al. 2018

MoBiDiC Prioritization Algorithm, a Free, Accessible, and Efficient Pipeline for Single-Nucleotide Variant Annotation and Prioritization for Next-Generation Sequencing Routine Molecular Diagnosis

Interpretation of next-generation sequencing constitutes the main limitation of molecular diagnostics. In diagnosing myopathies and muscular dystrophies, another issue is efficiency in predicting the...
J Mol Diagn - issue: 4 - volume: 20 - pages: 465-473.

Barthélémy, F.  et al. 2018

Muscle Cells Fix Breaches by Orchestrating a Membrane Repair Ballet

Skeletal muscle undergoes many micro-membrane lesions at physiological state. Based on their sizes and magnitude these lesions are repaired via different complexes on a specific spatio-temporal...
J Neuromuscul Dis - issue: 1 - volume: 5 - pages: 21-28.

Noury, J.  et al. 2018

Rigid spine syndrome associated with sensory-motor axonal neuropathy resembling Charcot-Marie-Tooth disease is characteristic of Bcl-2-associated athanogene-3 gene mutations even without cardiac involvement

INTRODUCTION: Bcl-2-associated athanogene-3 (BAG3) mutations have been described in rare cases of rapidly progressive myofibrillar myopathies. Symptoms begin in the first decade with axial involvement...
Muscle Nerve - issue: 2 - volume: 57 - pages: 330-334.

Ludlow, AT.  et al. 2018

NOVA1 regulates hTERT splicing and cell growth in non-small cell lung cancer

Alternative splicing is dysregulated in cancer and the reactivation of telomerase involves the splicing of TERT transcripts to produce full-length (FL) TERT. Knowledge about the splicing factors that...
Nat Commun - issue: 1 - volume: 9 - pages: 3112.

Perrin, A.  et al. 2018

[Towards an harmonization of diagnosis by NGS of neuromuscular diseases - Actions of the Molecular Genetics sub-group of FILNEMUS]


Med Sci (Paris) - issue: - volume: 34 Hors série n°2 - pages: 20-22.

Jaouadi, H.  et al. 2018

Novel ALPK3 mutation in a Tunisian patient with pediatric cardiomyopathy and facio-thoraco-skeletal features

Pediatric cardiomyopathy is a complex disease with clinical and genetic heterogeneity. Recently, the ALPK3 gene was described as a new hereditary cardiomyopathy gene underlying pediatric...
J. Hum. Genet. - issue: 10 - volume: 63 - pages: 1077-1082.

Desvignes, J.  et al. 2018

VarAFT: a variant annotation and filtration system for human next generation sequencing data

With the rapidly developing high-throughput sequencing technologies known as next generation sequencing or NGS, our approach to gene hunting and diagnosis has drastically changed. In <10 years, these...
Nucleic Acids Res. - issue: W1 - volume: 46 - pages: W545-W553.

Nguyen, K.  et al. 2017

Molecular combing reveals complex 4q35 rearrangements in Facioscapulohumeral dystrophy

Facioscapulohumeral dystrophy (FSHD), one of the most common hereditary neuromuscular disorders, is associated with a complex combination of genetic variations at the subtelomeric 4q35 locus. As...
Hum. Mutat. - issue: 10 - volume: 38 - pages: 1432-1441.

Simoncini, S.  et al. 2017

Biogenesis of Pro-senescent Microparticles by Endothelial Colony Forming Cells from Premature Neonates is driven by SIRT1-Dependent Epigenetic Regulation of MKK6

Senescent cells may exert detrimental effect on microenvironment through the secretion of soluble factors and the release of extracellular vesicles, such as microparticles, key actors in ageing and...
Sci Rep - issue: 1 - volume: 7 - pages: 8277.

Ben Yaou, R.  et al. 2017

Clinical heterogeneity and phenotype/genotype findings in 5 families with GYG1 deficiency

Objective: To describe the variability of muscle symptoms in patients carrying mutations in the GYG1 gene, encoding glycogenin-1, an enzyme involved in the biosynthesis of glycogen, and to discuss...
Neurol Genet - issue: 6 - volume: 3 - pages: e208.

Renaud, M.  et al. 2017

A recessive ataxia diagnosis algorithm for the next generation sequencing era

OBJECTIVE: Differential diagnosis of autosomal recessive cerebellar ataxias can be challenging. A ranking algorithm named RADIAL that predicts the molecular diagnosis based on the clinical phenotype...
Ann. Neurol. - issue: 6 - volume: 82 - pages: 892-899.

Krahn, M.  et al. 2017

[Towards a national standardisation of NGS studies in the diagnosis of myopathies]


Med Sci (Paris) - issue: - volume: 33 Hors série n°1 - pages: 30-33.

Cerino, M.  et al. 2017

Genetic Characterization of a French Cohort of GNE-mutation negative inclusion body myopathy patients with exome sequencing

INTRODUCTION: Hereditary inclusion body myopathy (hIBM) refers to a group of clinically and genetically heterogeneous diseases. The overlapping histochemical features of hIBM with other genetic...
Muscle Nerve - issue: 5 - volume: 56 - pages: 993-997.

Nguyen, K.  et al. 2017

Molecular combing reveals complex 4q35 rearrangements in Facioscapulohumeral dystrophy

Facioscapulohumeral dystrophy (FSHD), one of the most common hereditary neuromuscular disorders, is associated with a complex combination of genetic variations at the subtelomeric 4q35 locus. As...
Hum. Mutat. - issue: 10 - volume: 38 - pages: 1432-1441.

Simoncini, S.  et al. 2017

Biogenesis of Pro-senescent Microparticles by Endothelial Colony Forming Cells from Premature Neonates is driven by SIRT1-Dependent Epigenetic Regulation of MKK6

Senescent cells may exert detrimental effect on microenvironment through the secretion of soluble factors and the release of extracellular vesicles, such as microparticles, key actors in ageing and...
Sci Rep - issue: 1 - volume: 7 - pages: 8277.

Cerino, M.  et al. 2017

Genetic Characterization of a French Cohort of GNE-mutation negative inclusion body myopathy patients with exome sequencing

INTRODUCTION: Hereditary inclusion body myopathy (hIBM) refers to a group of clinically and genetically heterogeneous diseases. The overlapping histochemical features of hIBM with other genetic...
Muscle Nerve - issue: - volume: - pages: .

Matagne, V.  et al. 2017

A codon-optimized Mecp2 transgene corrects breathing deficits and improves survival in a mouse model of Rett syndrome

Rett syndrome (RTT) is a severe X-linked neurodevelopmental disorder that is primarily caused by mutations in the methyl CpG binding protein 2 gene (MECP2). RTT is the second most prevalent cause of...
Neurobiol. Dis. - issue: - volume: 99 - pages: 1-11.

Robin, JD.  et al. 2016

Physiological and Pathological Aging Affects Chromatin Dynamics, Structure and Function at the Nuclear Edge

Lamins are intermediate filaments that form a complex meshwork at the inner nuclear membrane. Mammalian cells express two types of Lamins, Lamins A/C and Lamins B, encoded by three different genes,...
Front Genet - issue: - volume: 7 - pages: 153.

Pinard, A.  et al. 2016

Actionable Genes, Core Databases, and Locus-Specific Databases

Adoption of next-generation sequencing (NGS) in a diagnostic context raises numerous questions with regard to identification and reports of secondary variants (SVs) in actionable genes. To better...
Hum. Mutat. - issue: 12 - volume: 37 - pages: 1299-1307.

Matagne, V.  et al. 2016

A codon-optimized Mecp2 transgene corrects breathing deficits and improves survival in a mouse model of Rett syndrome

Rett syndrome (RTT) is a severe X-linked neurodevelopmental disorder that is primarily caused by mutations in the methyl CpG binding protein 2 gene (MECP2). RTT is the second most prevalent cause of...
Neurobiol. Dis. - issue: - volume: 99 - pages: 1-11.

Kim, W.  et al. 2016

Regulation of the Human Telomerase Gene TERT by Telomere Position Effect-Over Long Distances (TPE-OLD): Implications for Aging and Cancer

Telomerase is expressed in early human development and then becomes silenced in most normal tissues. Because ~90% of primary human tumors express telomerase and generally maintain very short...
PLoS Biol. - issue: 12 - volume: 14 - pages: e2000016.

Beroud, C.  et al. 2016

BRCA Share: A Collection of Clinical BRCA Gene Variants

As next-generation sequencing increases access to human genetic variation, the challenge of determining clinical significance of variants becomes ever more acute. Germline variants in the BRCA1 and...
Hum. Mutat. - issue: 12 - volume: 37 - pages: 1318-1328.

Oetting, WS.  et al. 2016

Clinical Interpretation of Variants from Next-Generation Sequencing: The 2016 Scientific Meeting of the Human Genome Variation Society

WOS:000385805800012
Hum. Mutat. - issue: 10 - volume: 37 - pages: 1110-1113.

Gaillard, M.  et al. 2016

Segregation between SMCHD1 mutation, D4Z4 hypomethylation and Facio-Scapulo-Humeral Dystrophy: a case report

BACKGROUND: The main form of Facio-Scapulo-Humeral muscular Dystrophy is linked to copy number reduction of the 4q D4Z4 macrosatellite (FSHD1). In 5 % of cases, FSHD phenotype appears in the absence...
BMC Med. Genet. - issue: 1 - volume: 17 - pages: 66.

Gaillard, M.  et al. 2016

Segregation between SMCHD1 mutation, D4Z4 hypomethylation and Facio-Scapulo-Humeral Dystrophy: a case report

BACKGROUND: The main form of Facio-Scapulo-Humeral muscular Dystrophy is linked to copy number reduction of the 4q D4Z4 macrosatellite (FSHD1). In 5 % of cases, FSHD phenotype appears in the absence...
BMC Med. Genet. - issue: 1 - volume: 17 - pages: 66.

Gaillard, M.  et al. 2016

Segregation between SMCHD1 mutation, D4Z4 hypomethylation and Facio-Scapulo-Humeral Dystrophy: a case report

BACKGROUND: The main form of Facio-Scapulo-Humeral muscular Dystrophy is linked to copy number reduction of the 4q D4Z4 macrosatellite (FSHD1). In 5 % of cases, FSHD phenotype appears in the absence...
BMC Med. Genet. - issue: 1 - volume: 17 - pages: 66.

Miltgen, M.  et al. 2016

Novel Heterozygous Mutation in ANO3 Responsible for Craniocervical Dystonia

WOS:000382558800031
Mov. Disord. - issue: 8 - volume: 31 - pages: 1251-1252.

Chateau, A.  et al. 2016

SIRT1 Deficiency in endothelial progenitor cells drives pro-senescent microparticles release through MKK6 upregulation

WOS:000379164000355
J. Thromb. Haemost. - issue: - volume: 14 - pages: 139-139.

Renard, D.  et al. 2016

Calf hypertrophy and gastrocnemius MRI short tau inversion recovery (STIR) hyperintensity in a patient with asymptomatic hyperCKemia caused by caveolin-3 gene mutation


Neuromuscul. Disord. - issue: 4-5 - volume: 26 - pages: 326-327.

Sevy, A.  et al. 2016

Improving molecular diagnosis of distal myopathies by targeted next-generation sequencing


J. Neurol. Neurosurg. Psychiatry - issue: 3 - volume: 87 - pages: 340-U116.

Lacoste, C.  et al. 2016

Coverage Analysis of Lists of Genes involved in Heterogeneous Genetic Diseases following Benchtop Exome Sequencing using the Ion Proton


J. Genet. - issue: 1 - volume: 95 - pages: 203-208.

Yoon, G.  et al. 2016

Reply: Autosomal recessive cerebellar ataxia caused by a homozygous mutation in PMPCA


Brain - issue: Pt 3 - volume: 139 - pages: e20.

Nishikawa, A.  et al. 2016

Respiratory and cardiac function in japanese patients with dysferlinopathy

INTRODUCTION: We retrospectively reviewed respiratory and cardiac function in patients with dysferlinopathy, including 2 autopsy cases with respiratory dysfunction. METHODS: Subjects included 48...
Muscle Nerve - issue: 3 - volume: 53 - pages: 394-401.

Sevy, A.  et al. 2016

Improving molecular diagnosis of distal myopathies by targeted next-generation sequencing


J. Neurol. Neurosurg. Psychiatry - issue: 3 - volume: 87 - pages: 340-342.

Lecocq, C.  et al. 2016

Delayed-onset Friedreich's ataxia revisited

BackgroundFriedreich's ataxia usually occurs before the age of 25. Rare variants have been described, such as late-onset Friedreich's ataxia and very-late-onset Friedreich's ataxia, occurring after 25...
Mov. Disord. - issue: 1 - volume: 31 - pages: 62-69.

Arslan-Kirchner, M.  et al. 2016

Clinical utility gene card for: Hereditary thoracic aortic aneurysm and dissection including next-generation sequencing-based approaches

WOS:000366615000024
Eur. J. Hum. Genet. - issue: 1 - volume: 24 - pages: 146-150.

Woudt, L.  et al. 2016

Toward an objective measure of functional disability in dysferlinopathy

INTRODUCTION: Understanding the natural history of dysferlinopathy is essential to design and quantify novel therapeutic protocols. Our aim in this study was to assess, clinically and functionally, a...
Muscle Nerve - issue: 1 - volume: 53 - pages: 49-57.

Portilho, DM.  et al. 2015

miRNA expression in control and FSHD fetal human muscle biopsies

BACKGROUND: Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal-dominant disorder and is one of the most common forms of muscular dystrophy. We have recently shown that some hallmarks of...
PLoS ONE - issue: 2 - volume: 10 - pages: e0116853.

Fatehi, F.  et al. 2015

Dysferlinopathy in Iran: Clinical and genetic report

BACKGROUND: Dysferlinopathy is caused by a very wide range of autosomal recessively inherited mutations of the Dysferlin gene. It causes a spectrum of muscle diseases including limb-girdle muscular...
J. Neurol. Sci. - issue: 1-2 - volume: 359 - pages: 256-259.

Robin, JD.  et al. 2015

SORBS2 transcription is activated by telomere position effect-over long distance upon telomere shortening in muscle cells from patients with facioscapulohumeral dystrophy

DNA is organized into complex three-dimensional chromatin structures, but how this spatial organization regulates gene expression remains a central question. These DNA/chromatin looping structures can...
Genome Res. - issue: 12 - volume: 25 - pages: 1781-1790.

Pilliod, J.  et al. 2015

New Practical Definitions for the Diagnosis of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay

Objective: Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is caused by mutations in the SACS gene. SACS encodes sacsin, a protein whose function remains unknown, despite the...
Ann. Neurol. - issue: 6 - volume: 78 - pages: 871-886.

Boushaki, S.  et al. 2015

Prevalence of BTK mutations in male Algerian patterns with agammaglobulinemia and severe B cell lymphopenia

X linked agammaglobulinemia (XLA) is the first described primary immunodeficiency and the most common form of agammaglobulinemia. It is characterized by susceptibility to recurrent infections,...
Clin. Immunol. - issue: 2 - volume: 161 - pages: 286-290.

Gorokhova, S.  et al. 2015

Comparing targeted exome and whole exome approaches for genetic diagnosis of neuromuscular disorders

Massively parallel sequencing is rapidly becoming a widely used method in genetic diagnostics. However, there is still no clear consensus as to which approach can most efficiently identify the...
Appl. Transl. Genomics - issue: - volume: 7 - pages: 26-31.

Robin, JD.  et al. 2015

SORBS2 transcription is activated by telomere position effect-over long distance upon telomere shortening in muscle cells from patients with facioscapulohumeral dystrophy

DNA is organized into complex three-dimensional chromatin structures, but how this spatial organization regulates gene expression remains a central question. These DNA/chromatin looping structures can...
Genome Res. - issue: 12 - volume: 25 - pages: 1781-1790.

Boushaki, S.  et al. 2015

Prevalence of BTK mutations in male Algerian patterns with agammaglobulinemia and severe B cell lymphopenia

X linked agammaglobulinemia (XLA) is the first described primary immunodeficiency and the most common form of agammaglobulinemia. It is characterized by susceptibility to recurrent infections,...
Clin. Immunol. - issue: 2 - volume: 161 - pages: 286-290.

Gorokhova, S.  et al. 2015

Comparing targeted exome and whole exome approaches for genetic diagnosis of neuromuscular disorders

Massively parallel sequencing is rapidly becoming a widely used method in genetic diagnostics. However, there is still no clear consensus as to which approach can most efficiently identify the...
Appl Transl Genom - issue: - volume: 7 - pages: 26-31.

Capo-Chichi, J.  et al. 2015

Neuroblastoma Amplified Sequence (NBAS) mutation in recurrent acute liver failure: Confirmatory report in a sibship with very early onset, osteoporosis and developmental delay

BACKGROUND: Recently, biallelic mutations in the Neuroblastoma Amplified Sequence NBAS gene have been identified in ten patients that present recurrent acute liver failure (RALF) in early infancy. In...
Eur J Med Genet - issue: 12 - volume: 58 - pages: 637-641.

Martinez, E.  et al. 2015

Rs488087 single nucleotide polymorphism as predictive risk factor for pancreatic cancers

Pancreatic cancer (PC) is a devastating disease progressing asymptomatically until death within months after diagnosis. Defining at-risk populations should promote its earlier diagnosis and hence also...
Oncotarget - issue: 37 - volume: 6 - pages: 39855-39864.

Martinez, E.  et al. 2015

Rs488087 single nucleotide polymorphism as predictive risk factor for pancreatic cancers

Pancreatic cancer (PC) is a devastating disease progressing asymptomatically until death within months after diagnosis. Defining at-risk populations should promote its earlier diagnosis and hence also...
Oncotarget - issue: 37 - volume: 6 - pages: 39855-39864.

Vodopiutz, J.  et al. 2015

WDR73 Mutations Cause Infantile Neurodegeneration and Variable Glomerular Kidney Disease

Infantile-onset cerebellar atrophy (CA) is a clinically and genetically heterogeneous trait. Galloway-Mowat syndrome (GMS) is a rare autosomal recessive disease, characterized by microcephaly with...
Hum. Mutat. - issue: 11 - volume: 36 - pages: 1021-1028.

Mariot, V.  et al. 2015

Correlation between low FAT1 expression and early affected muscle in FSHD

WOS:000362925400444
Neuromusc. Disord. - issue: - volume: 25 - pages: S312-S312.

Rapetti-Mauss, R.  et al. 2015

A mutation in the Gardos channel is associated with hereditary xerocytosis

The Gardos channel is a Ca2+-sensitive, intermediate conductance, potassium selective channel expressed in several tissues including erythrocytes and pancreas. In normal erythrocytes, it is involved...
Blood - issue: 11 - volume: 126 - pages: 1273-1280.

Barthélémy, F.  et al. 2015

Exon 32 Skipping of Dysferlin Rescues Membrane Repair in Patients' Cells

Dysferlinopathies are a family of disabling muscular dystrophies with LGMD2B and Miyoshi myopathy as the main phenotypes. They are associated with molecular defects in DYSF, which encodes dysferlin, a...
J Neuromuscul Dis - issue: 3 - volume: 2 - pages: 281-290.

Barthélémy, F.  et al. 2015

Exon 32 Skipping of Dysferlin Rescues Membrane Repair in Patients' Cells

Dysferlinopathies are a family of disabling muscular dystrophies with LGMD2B and Miyoshi myopathy as the main phenotypes. They are associated with molecular defects in DYSF, which encodes dysferlin, a...
J Neuromuscul Dis - issue: 3 - volume: 2 - pages: 281-290.

Mariot, V.  et al. 2015

Correlation between low FAT1 expression and early affected muscle in facioscapulohumeral muscular dystrophy

OBJECTIVE: Facioscapulohumeral muscular dystrophy (FSHD) is linked to either contraction of D4Z4 repeats on chromosome 4 or to mutations in the SMCHD1 gene, both of which result in the aberrant...
Ann. Neurol. - issue: 3 - volume: 78 - pages: 387-400.

Mariot, V.  et al. 2015

Correlation between low FAT1 expression and early affected muscle in facioscapulohumeral muscular dystrophy

OBJECTIVE: Facioscapulohumeral muscular dystrophy (FSHD) is linked to either contraction of D4Z4 repeats on chromosome 4 or to mutations in the SMCHD1 gene, both of which result in the aberrant...
Ann. Neurol. - issue: 3 - volume: 78 - pages: 387-400.

Barckmann, B.  et al. 2015

Aubergine iCLIP Reveals piRNA-Dependent Decay of mRNAs Involved in Germ Cell Development in the Early Embryo

The Piwi-interacting RNA (piRNA) pathway plays an essential role in the repression of transposons in the germline. Other functions of piRNAs such as post-transcriptional regulation of mRNAs are now...
Cell Reports - issue: 7 - volume: 12 - pages: 1205-1216.

Barthélémy, F.  et al. 2015

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

Premature aging syndromes are rare genetic disorders mimicking clinical and molecular features of aging. A recently identified group of premature aging syndromes is linked to mutation of the LMNA gene...
Eur. J. Hum. Genet. - issue: 8 - volume: 23 - pages: 1051-1061.

Barthélémy, F.  et al. 2015

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

Premature aging syndromes are rare genetic disorders mimicking clinical and molecular features of aging. A recently identified group of premature aging syndromes is linked to mutation of the LMNA gene...
Eur. J. Hum. Genet. - issue: 8 - volume: 23 - pages: 1051-1061.

Kergourlay, V.  et al. 2015

Comment on: A novel dysferlin-mutant pseudoexon bypassed with antisense oligonucleotides


Ann Clin Transl Neurol - issue: 7 - volume: 2 - pages: 783-784.

Gorokhova, S.  et al. 2015

Clinical massively parallel sequencing for the diagnosis of myopathies

Massively parallel sequencing, otherwise known as high-throughput or next-generation sequencing, is rapidly gaining wide use in clinical practice due to possibility of simultaneous exploration of...
Rev. Neurol. (Paris) - issue: 6-7 - volume: 171 - pages: 558-571.

Kergourlay, V.  et al. 2015

Comment on: A novel dysferlin-mutant pseudoexon bypassed with antisense oligonucleotides


Ann Clin Transl Neurol - issue: 7 - volume: 2 - pages: 783-784.

Cerino, M.  et al. 2015

Novel Pathogenic Variants in a French Cohort Widen the Mutational Spectrum of GNE Myopathy

BACKGROUND: GNE myopathy is a rare autosomal recessively inherited muscle disease resulting from mutations in the gene encoding GNE (UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase), a...
J Neuromuscul Dis - issue: 2 - volume: 2 - pages: 131-136.

Cerino, M.  et al. 2015

Novel Pathogenic Variants in a French Cohort Widen the Mutational Spectrum of GNE Myopathy

BACKGROUND: GNE myopathy is a rare autosomal recessively inherited muscle disease resulting from mutations in the gene encoding GNE (UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase), a...
J Neuromuscul Dis - issue: 2 - volume: 2 - pages: 131-136.

Jobling, RK.  et al. 2015

PMPCA mutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia

Non-progressive cerebellar ataxias are a rare group of disorders that comprise approximately 10% of static infantile encephalopathies. We report the identification of mutations in PMPCA in 17 patients...
Brain - issue: Pt 6 - volume: 138 - pages: 1505-1517.

Nguyen, K.  et al. 2015

Incidental findings on array comparative genomic hybridization: detection of carrier females of dystrophinopathy without any family history

Array comparative genomic hybridization (aCGH) has progressively replaced conventional karyotype in the diagnostic strategy of intellectual disability (ID) and congenital malformations. This technique...
Clin. Genet. - issue: 5 - volume: 87 - pages: 488-491.

Joly, D.  et al. 2015

Rare inherited disorders with renal involvement-approach to the patient

The list of rare inherited disorders with renal involvement is rapidly growing. Many are single gene diseases affecting children, but cases are not restricted to pediatrics and diagnosis is often...
Kidney Int. - issue: 5 - volume: 87 - pages: 901-908.

Puppo, F.  et al. 2015

Identification of variants in the 4q35 gene FAT1 in patients with a facioscapulohumeral dystrophy-like phenotype

Facioscapulohumeralmuscular dystrophy (FSHD) is linked to copy-number reduction (N < 10) of the 4q D4Z4 subtelomeric array, in association with DUX4-permissive haplotypes. This main form is indicated...
Hum. Mutat. - issue: 4 - volume: 36 - pages: 443-453.

Puppo, F.  et al. 2015

Identification of variants in the 4q35 gene FAT1 in patients with a facioscapulohumeral dystrophy-like phenotype

Facioscapulohumeralmuscular dystrophy (FSHD) is linked to copy-number reduction (N < 10) of the 4q D4Z4 subtelomeric array, in association with DUX4-permissive haplotypes. This main form is indicated...
Hum. Mutat. - issue: 4 - volume: 36 - pages: 443-453.

Puppo, F.  et al. 2015

Identification of variants in the 4q35 gene FAT1 in patients with a facioscapulohumeral dystrophy-like phenotype

Facioscapulohumeralmuscular dystrophy (FSHD) is linked to copy-number reduction (N < 10) of the 4q D4Z4 subtelomeric array, in association with DUX4-permissive haplotypes. This main form is indicated...
Hum. Mutat. - issue: 4 - volume: 36 - pages: 443-453.

Portilho, DM.  et al. 2015

miRNA Expression in Control and FSHD Fetal Human Muscle Biopsies

Background Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal-dominant disorder and is one of the most common forms of muscular dystrophy. We have recently shown that some hallmarks of FSHD...
PLoS One - issue: 2 - volume: 10 - pages: e0116853.

Manes, G.  et al. 2015

High Prevalence of PRPH2 in Autosomal Dominant Retinitis Pigmentosa in France and Characterization of Biochemical and Clinical Features

PURPOSE: To assess the prevalence of PRPH2 in autosomal dominant retinitis pigmentosa (adRP), to report 6 novel mutations, to characterize the biochemical features of a recurrent novel mutation, and...
Am. J. Ophthalmol. - issue: 2 - volume: 159 - pages: 302-314.

Salort-Campana, E.  et al. 2015

Low penetrance in facioscapulohumeral muscular dystrophy type 1 with large pathological D4Z4 alleles: a cross-sectional multicenter study

BACKGROUND: Facioscapulohumeral muscular dystrophy type 1(FSHD1) is an autosomal dominant disorder associated with the contraction of D4Z4 less than 11 repeat units (RUs) on chromosome 4q35....
Orphanet J Rare Dis - issue: - volume: 10 - pages: 2.

Salort-Campana, E.  et al. 2015

Low penetrance in facioscapulohumeral muscular dystrophy type 1 with large pathological D4Z4 alleles: a cross-sectional multicenter study

BACKGROUND: Facioscapulohumeral muscular dystrophy type 1(FSHD1) is an autosomal dominant disorder associated with the contraction of D4Z4 less than 11 repeat units (RUs) on chromosome 4q35....
Orphanet J Rare Dis - issue: - volume: 10 - pages: 2.

Salort-Campana, E.  et al. 2015

Low penetrance in facioscapulohumeral muscular dystrophy type 1 with large pathological D4Z4 alleles: a cross-sectional multicenter study

BACKGROUND: Facioscapulohumeral muscular dystrophy type 1(FSHD1) is an autosomal dominant disorder associated with the contraction of D4Z4 less than 11 repeat units (RUs) on chromosome 4q35....
Orphanet J Rare Dis - issue: - volume: 10 - pages: 2.

Bartoli, M.  et al. 2014

Exome sequencing as a second-tier diagnostic approach for clinically suspected dysferlinopathy patients

INTRODUCTION: Autosomal recessive muscular dystrophies are heterogeneous genetic disorders, with 39 genes currently implicated. Genetic diagnosis using targeted single-gene analysis by Sanger...
Muscle Nerve - issue: 6 - volume: 50 - pages: 1007-1010.

Badja, C.  et al. 2014

Efficient and Cost-Effective Generation of Mature Neurons From Human Induced Pluripotent Stem Cells

For years, our ability to study pathological changes in neurological diseases has been hampered by the lack of relevant models until the recent groundbreaking work from Yamanaka's group showing that...
Stem Cells Transl. Med. - issue: 12 - volume: 3 - pages: 1467-1472.

Kergourlay, V.  et al. 2014

Identification of splicing defects caused by mutations in the dysferlin gene

Missense, iso-semantic, and intronic mutations are challenging for interpretation, in particular for their impact in mRNA. Various tools such as the Human Splicing Finder (HSF) system could be used to...
Hum. Mutat. - issue: 12 - volume: 35 - pages: 1532-1541.

Badja, C.  et al. 2014

Efficient and cost-effective generation of mature neurons from human induced pluripotent stem cells

For years, our ability to study pathological changes in neurological diseases has been hampered by the lack of relevant models until the recent groundbreaking work from Yamanaka's group showing that...
Stem Cells Transl Med - issue: 12 - volume: 3 - pages: 1467-1472.

Xi, J.  et al. 2014

Clinical heterogeneity and a high proportion of novel mutations in a Chinese cohort of patients with dysferlinopathy

BACKGROUND AND AIMS: Dysferlinopathies are a group of autosomal recessive muscular dystrophies caused by mutations in the dysferlin gene. This study presents clinical features and the mutational...
Neurol India - issue: 6 - volume: 62 - pages: 635-639.

Kergourlay, V.  et al. 2014

Identification of splicing defects caused by mutations in the dysferlin gene

Missense, iso-semantic, and intronic mutations are challenging for interpretation, in particular for their impact in mRNA. Various tools such as the Human Splicing Finder (HSF) system could be used to...
Hum. Mutat. - issue: 12 - volume: 35 - pages: 1532-1541.

Bartoli, M.  et al. 2014

Exome sequencing as a second-tier diagnostic approach for clinically suspected dysferlinopathy patients

INTRODUCTION: Autosomal recessive muscular dystrophies are heterogeneous genetic disorders, with 39 genes currently implicated. Genetic diagnosis using targeted single-gene analysis by Sanger...
Muscle Nerve - issue: 6 - volume: 50 - pages: 1007-1010.

Robin, JD.  et al. 2014

Telomere position effect: regulation of gene expression with progressive telomere shortening over long distances

While global chromatin conformation studies are emerging, very little is known about the chromatin conformation of human telomeres. Most studies have focused on the role of telomeres as a tumor...
Genes Dev. - issue: 22 - volume: 28 - pages: 2464-2476.

Robin, JD.  et al. 2014

Telomere position effect: regulation of gene expression with progressive telomere shortening over long distances

While global chromatin conformation studies are emerging, very little is known about the chromatin conformation of human telomeres. Most studies have focused on the role of telomeres as a tumor...
Genes Dev. - issue: 22 - volume: 28 - pages: 2464-2476.

Puppo, F.  et al. 2014

Molecular defects in FAT1 are associated to facioscapulohumeral dystrophy (FSHD)

WOS:000342870200023
Neuromusc. Disord. - issue: 9-10 - volume: 24 - pages: 797-798.

Jaka, O.  et al. 2014

Entire CAPN3 gene deletion in a patient with limb-girdle muscular dystrophy type 2A

Limb-girdle muscular dystrophy type 2A (LGMD2A) due to mutations in the CAPN3 gene is one of the most common of autosomal recessive limb-girdle muscular dystrophies. We describe a patient who had a...
Muscle Nerve - issue: 3 - volume: 50 - pages: 448-453.

Jaka, O.  et al. 2014

Entire CAPN3 gene deletion in a patient with limb-girdle muscular dystrophy type 2A

Limb-girdle muscular dystrophy type 2A (LGMD2A) due to mutations in the CAPN3 gene is one of the most common of autosomal recessive limb-girdle muscular dystrophies. We describe a patient who had a...
Muscle Nerve - issue: 3 - volume: 50 - pages: 448-453.

Gaillard, M.  et al. 2014

Differential DNA methylation of the D4Z4 repeat in patients with FSHD and asymptomatic carriers

OBJECTIVE: We investigated the link between DNA hypomethylation and clinical penetrance in facioscapulohumeral dystrophy (FSHD) because hypomethylation is moderate and heterogeneous in patients and...
Neurology - issue: 8 - volume: 83 - pages: 733-742.

Gaillard, M.  et al. 2014

Differential DNA methylation of the D4Z4 repeat in patients with FSHD and asymptomatic carriers

OBJECTIVE: We investigated the link between DNA hypomethylation and clinical penetrance in facioscapulohumeral dystrophy (FSHD) because hypomethylation is moderate and heterogeneous in patients and...
Neurology - issue: 8 - volume: 83 - pages: 733-742.

Gaillard, M.  et al. 2014

Differential DNA methylation of the D4Z4 repeat in patients with FSHD and asymptomatic carriers

OBJECTIVE: We investigated the link between DNA hypomethylation and clinical penetrance in facioscapulohumeral dystrophy (FSHD) because hypomethylation is moderate and heterogeneous in patients and...
Neurology - issue: 8 - volume: 83 - pages: 733-742.

Mazuc, E.  et al. 2014

In-Cell Intrabody Selection from a Diverse Human Library Identifies C12orf4 Protein as a New Player in Rodent Mast Cell Degranulation

The high specificity of antibodies for their antigen allows a fine discrimination of target conformations and post-translational modifications, making antibodies the first choice tool to interrogate...
PLoS One - issue: 8 - volume: 9 - pages: e104998.

Thompson, R.  et al. 2014

RD-Connect: An Integrated Platform Connecting Databases, Registries, Biobanks and Clinical Bioinformatics for Rare Disease Research

Research into rare diseases is typically fragmented by data type and disease. Individual efforts often have poor interoperability and do not systematically connect data across clinical phenotype,...
J. Gen. Intern. Med. - issue: - volume: 29 - pages: S780-S787.

Etienne-Grimaldi, M.  et al. 2014

Molecular patterns in deficient mismatch repair colorectal tumours: results from a French prospective multicentric biological and genetic study

Background: To test the prognostic value of tumour protein and genetic markers in colorectal cancer (CRC) and examine whether deficient mismatch repair (dMMR) tumours had a distinct profile relative...
Br. J. Cancer - issue: 11 - volume: 110 - pages: 2728-2737.

Mehawej, C.  et al. 2014

The impairment of MAGMAS function in human is responsible for a severe skeletal dysplasia

Impairment of the tightly regulated ossification process leads to a wide range of skeletal dysplasias and deciphering their molecular bases has contributed to the understanding of this complex...
PLoS Genet. - issue: 5 - volume: 10 - pages: e1004311.

Boennemann, CG.  et al. 2014

Diagnostic approach to the congenital muscular dystrophies

Congenital muscular dystrophies (CMDs) are early onset disorders of muscle with histological features suggesting a dystrophic process. The congenital muscular dystrophies as a group encompass great...
Neuromusc. Disord. - issue: 4 - volume: 24 - pages: 289-311.

Vassallo, PF.  et al. 2014

Accelerated senescence of cord blood endothelial progenitor cells in premature neonates is driven by SIRT1 decreased expression

Epidemiological and experimental studies indicate that early vascular dysfunction occurs in low-birth-weight subjects, especially preterm (PT) infants. We recently reported impaired angiogenic...
Blood - issue: 13 - volume: 123 - pages: 2116-2126.

Vassallo, PF.  et al. 2014

Accelerated senescence of cord blood endothelial progenitor cells in premature neonates is driven by SIRT1 decreased expression

Epidemiological and experimental studies indicate that early vascular dysfunction occurs in low-birth-weight subjects, especially preterm (PT) infants. We recently reported impaired angiogenic...
Blood - issue: 13 - volume: 123 - pages: 2116-2126.

Robellet, X.  et al. 2014

A Genetic Screen for Functional Partners of Condensin in Fission Yeast

Mitotic chromosome condensation is a prerequisite for the accurate segregation of chromosomes during cell division, and the conserved condensin complex a central player of this process. However, how...
G3-Genes Genomes Genet. - issue: 2 - volume: 4 - pages: 373-381.

Bladen, CL.  et al. 2014

Mapping the differences in care for 5,000 Spinal Muscular Atrophy patients, a survey of 24 national registries in North America, Australasia and Europe

Spinal muscular atrophy (SMA) is an autosomal recessive genetic disorder characterised by the degeneration of motor neurons and progressive muscle weakness. It is caused by homozygous deletions in the...
J. Neurol. - issue: 1 - volume: 261 - pages: 152-163.

Ferreboeuf, M.  et al. 2014

DUX4 and DUX4 downstream target genes are expressed in fetal FSHD muscles

Facioscapulohumeral muscular dystrophy (FSHD) is one of the most prevalent adult muscular dystrophies. The common clinical signs usually appear during the second decade of life but when the first...
Hum. Mol. Genet. - issue: 1 - volume: 23 - pages: 171-181.

Callier, P.  et al. 2013

Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disability

The association of marfanoid habitus (MH) and intellectual disability (ID) has been reported in the literature, with overlapping presentations and genetic heterogeneity. A hundred patients (71 males...
Clin. Genet. - issue: 6 - volume: 84 - pages: 507-521.

Poulain, S.  et al. 2013

Genome wide SNP array identified multiple mechanisms of genetic changes in Waldenstrom macroglobulinemia

SNP array (SNPa) was developed to detect copy number alteration (CNA) and loss of heterozygosity (LOH) without copy number changes, CN-LOH. We aimed to identify novel genomic aberrations using SNPa in...
Am. J. Hematol. - issue: 11 - volume: 88 - pages: 948-954.

Bladen, CL.  et al. 2013

The TREAT-NMD Duchenne Muscular Dystrophy Registries: Conception, Design, and Utilization by Industry and Academia

Duchenne muscular dystrophy (DMD) is an X-linked genetic disease, caused by the absence of the dystrophin protein. Although many novel therapies are under development for DMD, there is currently no...
Hum. Mutat. - issue: 11 - volume: 34 - pages: 1449-1457.

Broucqsault, N.  et al. 2013

Dysregulation of 4q35- and muscle-specific genes in fetuses with a short D4Z4 array linked to facio-scapulo-humeral dystrophy

Facio-scapulo-humeral dystrophy (FSHD) results from deletions in the subtelomeric macrosatellite D4Z4 array on the 4q35 region. Upregulation of the DUX4 retrogene from the last D4Z4 repeated unit is...
Hum. Mol. Genet. - issue: 20 - volume: 22 - pages: 4206-4214.

Broucqsault, N.  et al. 2013

Dysregulation of 4q35- and muscle-specific genes in fetuses with a short D4Z4 array linked to facio-scapulo-humeral dystrophy

Facio-scapulo-humeral dystrophy (FSHD) results from deletions in the subtelomeric macrosatellite D4Z4 array on the 4q35 region. Upregulation of the DUX4 retrogene from the last D4Z4 repeated unit is...
Hum. Mol. Genet. - issue: 20 - volume: 22 - pages: 4206-4214.

Broucqsault, N.  et al. 2013

Dysregulation of 4q35- and muscle-specific genes in fetuses with a short D4Z4 array linked to facio-scapulo-humeral dystrophy

Facio-scapulo-humeral dystrophy (FSHD) results from deletions in the subtelomeric macrosatellite D4Z4 array on the 4q35 region. Upregulation of the DUX4 retrogene from the last D4Z4 repeated unit is...
Hum. Mol. Genet. - issue: 20 - volume: 22 - pages: 4206-4214.

Robin, JD.  et al. 2013

Length dependent telomere looping affects long-distant gene expression (5 Mb) in FSHD

WOS:000324972500271
Neuromusc. Disord. - issue: 9-10 - volume: 23 - pages: 824-824.

Ferreboeuf, M.  et al. 2013

DUX 4 and DUX4 downstream target genes are expressed in fetal FSHD muscles

WOS:000324972500267
Neuromusc. Disord. - issue: 9-10 - volume: 23 - pages: 823-823.

Roudaut, C.  et al. 2013

Restriction of calpain3 expression to the skeletal muscle prevents cardiac toxicity and corrects pathology in a murine model of limb-girdle muscular dystrophy

BACKGROUND: Genetic defects in calpain3 (CAPN3) lead to limb-girdle muscular dystrophy type 2A, a disease of the skeletal muscle that affects predominantly the proximal limb muscles. We previously...
Circulation - issue: 10 - volume: 128 - pages: 1094-1104.

Roudaut, C.  et al. 2013

Restriction of calpain3 expression to the skeletal muscle prevents cardiac toxicity and corrects pathology in a murine model of limb-girdle muscular dystrophy

BACKGROUND: Genetic defects in calpain3 (CAPN3) lead to limb-girdle muscular dystrophy type 2A, a disease of the skeletal muscle that affects predominantly the proximal limb muscles. We previously...
Circulation - issue: 10 - volume: 128 - pages: 1094-1104.

Humbertclaude, V.  et al. 2013

Phenotypic heterogeneity and phenotype-genotype correlations in dystrophinopathies: Contribution of genetic and clinical databases

The objective of this work was to study the natural history of dystrophinopathies and the genotype-phenotype correlations made possible by the development of the clinical part of the French DMD...
Rev. Neurol. - issue: 8-9 - volume: 169 - pages: 583-594.

Boussouar, A.  et al. 2013

Acacetin and chrysin, two polyphenolic compounds, alleviate telomeric position effect in human cells

We took advantage of the ability of human telomeres to silence neighboring genes (telomere position effect or TPE) to design a high-throughput screening assay for drugs altering telomeres. We...
Mol Ther Nucleic Acids - issue: - volume: 2 - pages: e116.

Boussouar, A.  et al. 2013

Acacetin and Chrysin, Two Polyphenolic Compounds, Alleviate Telomeric Position Effect in Human Cells

We took advantage of the ability of human telomeres to silence neighboring genes (telomere position effect or TPE) to design a high-throughput screening assay for drugs altering telomeres. We...
Mol. Ther.-Nucl. Acids - issue: - volume: 2 - pages: e116.

McDonnell, CM.  et al. 2013

Ecto- and endoparasite induce similar chemical and brain neurogenomic responses in the honey bee (Apis mellifera)

Background: Exclusion from a social group is an effective way to avoid parasite transmission. This type of social removal has also been proposed as a form of collective defense, or social immunity, in...
BMC Ecol. - issue: - volume: 13 - pages: 25.

Boubaker, C.  et al. 2013

A novel mutation in FGD4/FRABIN causes Charcot Marie Tooth disease type 4H in patients from a consanguineous Tunisian family

Charcot-Marie-Tooth (CMT) disease constitutes a clinically and genetically heterogeneous group of hereditary neuropathies characterized by progressive muscular and sensory loss in the distal...
Ann. Hum. Genet. - issue: 4 - volume: 77 - pages: 336-343.

Caruso, N.  et al. 2013

Deregulation of the protocadherin gene FAT1 alters muscle shapes: implications for the pathogenesis of facioscapulohumeral dystrophy

Generation of skeletal muscles with forms adapted to their function is essential for normal movement. Muscle shape is patterned by the coordinated polarity of collectively migrating myoblasts....
PLoS Genet. - issue: 6 - volume: 9 - pages: e1003550.

Caruso, N.  et al. 2013

Deregulation of the protocadherin gene FAT1 alters muscle shapes: implications for the pathogenesis of facioscapulohumeral dystrophy

Generation of skeletal muscles with forms adapted to their function is essential for normal movement. Muscle shape is patterned by the coordinated polarity of collectively migrating myoblasts....
PLoS Genet. - issue: 6 - volume: 9 - pages: e1003550.

Caruso, N.  et al. 2013

Deregulation of the protocadherin gene FAT1 alters muscle shapes: implications for the pathogenesis of facioscapulohumeral dystrophy

Generation of skeletal muscles with forms adapted to their function is essential for normal movement. Muscle shape is patterned by the coordinated polarity of collectively migrating myoblasts....
PLoS Genet. - issue: 6 - volume: 9 - pages: e1003550.

Diala, I.  et al. 2013

Telomere protection and TRF2 expression are enhanced by the canonical Wnt signalling pathway

The DNA-binding protein TRF2 is essential for telomere protection and chromosome stability in mammals. We show here that TRF2 expression is activated by the Wnt/beta-catenin signalling pathway in...
EMBO Rep. - issue: 4 - volume: 14 - pages: 356-363.

Diala, I.  et al. 2013

Telomere protection and TRF2 expression are enhanced by the canonical Wnt signalling pathway

The DNA-binding protein TRF2 is essential for telomere protection and chromosome stability in mammals. We show here that TRF2 expression is activated by the Wnt/β-catenin signalling pathway in human...
EMBO Rep. - issue: 4 - volume: 14 - pages: 356-363.

Blandin, G.  et al. 2013

A human skeletal muscle interactome centered on proteins involved in muscular dystrophies: LGMD interactome

BACKGROUND: The complexity of the skeletal muscle and the identification of numerous human disease-causing mutations in its constitutive proteins make it an interesting tissue for proteomic studies...
Skelet Muscle - issue: 1 - volume: 3 - pages: 3.

Blandin, G.  et al. 2013

A human skeletal muscle interactome centered on proteins involved in muscular dystrophies: LGMD interactome

BACKGROUND: The complexity of the skeletal muscle and the identification of numerous human disease-causing mutations in its constitutive proteins make it an interesting tissue for proteomic studies...
Skelet Muscle - issue: 1 - volume: 3 - pages: 3.

Böhm, J.  et al. 2013

Constitutive activation of the calcium sensor STIM1 causes tubular-aggregate myopathy

Tubular aggregates are regular arrays of membrane tubules accumulating in muscle with age. They are found as secondary features in several muscle disorders, including alcohol- and drug-induced...
Am. J. Hum. Genet. - issue: 2 - volume: 92 - pages: 271-278.

Boehm, J.  et al. 2013

Constitutive Activation of the Calcium Sensor STIM1 Causes Tubular-Aggregate Myopathy

Tubular aggregates are regular arrays of membrane tubules accumulating in muscle with age. They are found as secondary features in several muscle disorders, including alcohol- and drug-induced...
Am. J. Hum. Genet. - issue: 2 - volume: 92 - pages: 271-278.

Roche, S.  et al. 2013

Comparative analysis of protein expression of three stem cell populations: Models of cytokine delivery system in vivo

Several mechanisms mediate the regenerative and reparative capacity of stem cells, including cytokine secretion; therefore these cells can act as delivery systems of therapeutic molecules. Here we...
Int. J. Pharm. - issue: 1 - volume: 440 - pages: 72-82.

Lostal, W.  et al. 2012

Lack of correlation between outcomes of membrane repair assay and correction of dystrophic changes in experimental therapeutic strategy in dysferlinopathy

Mutations in the dysferlin gene are the cause of Limb-girdle Muscular Dystrophy type 2B and Miyoshi Myopathy. The dysferlin protein has been implicated in sarcolemmal resealing, leading to the idea...
PLoS ONE - issue: 5 - volume: 7 - pages: e38036.

Lostal, W.  et al. 2012

Lack of correlation between outcomes of membrane repair assay and correction of dystrophic changes in experimental therapeutic strategy in dysferlinopathy

Mutations in the dysferlin gene are the cause of Limb-girdle Muscular Dystrophy type 2B and Miyoshi Myopathy. The dysferlin protein has been implicated in sarcolemmal resealing, leading to the idea...
PLoS ONE - issue: 5 - volume: 7 - pages: e38036.

Galati, A.  et al. 2012

TRF2 controls telomeric nucleosome organization in a cell cycle phase-dependent manner

Mammalian telomeres stabilize chromosome ends as a result of their assembly into a peculiar form of chromatin comprising a complex of non-histone proteins named shelterin. TRF2, one of the shelterin...
PLoS ONE - issue: 4 - volume: 7 - pages: e34386.

Kannan, MA.  et al. 2012

Distal myopathy with rimmed vacuoles and inflammation: a genetically proven case

Distal myopathy with rimmed vacuoles (DMRV) is a major entity of distal myopathy. It is an autosomal recessive disorder and is due to mutations in the GNE gene that regulates the synthesis of sialic...
Neurol India - issue: 6 - volume: 60 - pages: 631-634.

De Paula, AM.  et al. 2012

Further heterogeneity in myopathy with tubular aggregates?


Muscle Nerve - issue: 6 - volume: 46 - pages: 984-985.

De Paula, AM.  et al. 2012

Further heterogeneity in myopathy with tubular aggregates?


Muscle Nerve - issue: 6 - volume: 46 - pages: 984-985.

Eyrnard, B.  et al. 2012

Diagnostic strategy for limb-girdle muscular dystrophies

Limb-girdle muscular dystrophies represent a major chapter of genetic myopathies. Many different entities have been identified, most of them with recessive transmission, a minority with dominant...
Rev. Neurol. - issue: 12 - volume: 168 - pages: 919-926.

Herbaux, C.  et al. 2012

B-Cell-Specific Transcription Factor BACH2 Involved in the Clinical Behavior Heterogeneity of Waldenstrom Macroglobulinemia

WOS:000313838902278
Blood - issue: 21 - volume: 120 - pages: .

Carmignac, V.  et al. 2012

In-Frame Mutations in Exon 1 of SKI Cause Dominant Shprintzen-Goldberg Syndrome

Shprintzen-Goldberg syndrome (SGS) is characterized by severe marfanoid habitus, intellectual disability, camptodactyly, typical facial dysmorphism, and craniosynostosis. Using family-based exome...
Am. J. Hum. Genet. - issue: 5 - volume: 91 - pages: 950-957.

Chouery, E.  et al. 2012

A novel deletion in ZBTB24 in a Lebanese family with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2

The immunodeficiency, centromeric instability and facial anomalies (ICF) syndrome is a rare autosomal recessive disease characterized by targeted chromosome breakage, directly related to a genomic...
Clin. Genet. - issue: 5 - volume: 82 - pages: 489-493.

Fahiminiya, S.  et al. 2012

Improvement of 2D-PAGE Resolution of Human, Porcine and Canine Follicular Fluid: Comparison of Two Immunodepletion Columns

Contents Follicular fluid provides the microenvironment within which somatic cells proliferate and differentiate, and the oocyte matures. It contains a number of soluble factors implicated in various...
Reprod. Domest. Anim. - issue: 5 - volume: 47 - pages: e67-e70.

Salgado, D.  et al. 2012

MyMiner: a web application for computer-assisted biocuration and text annotation

Motivation: The exponential growth of scientific literature has resulted in a massive amount of unstructured natural language data that cannot be directly handled by means of bioinformatics tools....
Bioinformatics - issue: 17 - volume: 28 - pages: 2285-2287.

Baudot, C.  et al. 2012

Two novel missense mutations in FGD4/FRABIN cause Charcot-Marie-Tooth type 4H (CMT4H)

By sequencing of the FGD4 coding sequence in a cohort of 101 patients affected by autosomal recessive demyelinating Charcot-Marie-Tooth disease (CMT), we have identified two novel missense mutations...
J. Peripher. Nerv. Syst. - issue: 2 - volume: 17 - pages: 141-146.

Boehm, J.  et al. 2012

Mutation Spectrum in the Large GTPase Dynamin 2, and Genotype-Phenotype Correlation in Autosomal Dominant Centronuclear Myopathy

Centronuclear myopathy (CNM) is a genetically heterogeneous disorder associated with general skeletal muscle weakness, type I fiber predominance and atrophy, and abnormally centralized nuclei....
Hum. Mutat. - issue: 6 - volume: 33 - pages: 949-959.

Marion, V.  et al. 2012

Exome sequencing identifies mutations in LZTFL1, a BBSome and smoothened trafficking regulator, in a family with Bardet--Biedl syndrome with situs inversus and insertional polydactyly

BACKGROUND: Bardet--Biedl Syndrome (BBS) is an emblematic recessive genetically highly heterogeneous ciliopathy characterised mainly by polydactyly, retinitis pigmentosa, obesity, cognitive...
J. Med. Genet. - issue: 5 - volume: 49 - pages: 317-321.

Galati, A.  et al. 2012

TRF2 Controls Telomeric Nucleosome Organization in a Cell Cycle Phase-Dependent Manner

Mammalian telomeres stabilize chromosome ends as a result of their assembly into a peculiar form of chromatin comprising a complex of non-histone proteins named shelterin. TRF2, one of the shelterin...
PLoS One - issue: 4 - volume: 7 - pages: e34386.

Corbani, S.  et al. 2012

Molecular screening of MECP2 gene in a cohort of Lebanese patients suspected with Rett syndrome: report on a mild case with a novel indel mutation

BACKGROUND: Rett syndrome (RTT), an X-linked, dominant, neurodevelopment disorder represents 10% of female subjects with profound intellectual disability. Mutations in the MECP2 gene are responsible...
J Intellect Disabil Res - issue: 4 - volume: 56 - pages: 415-420.

Poitelon, Y.  et al. 2012

Behavioral and molecular exploration of the AR-CMT2A mouse model Lmna (R298C/R298C)

In 2002, we identified LMNA as the first gene responsible for an autosomal recessive axonal form of Charcot-Marie-Tooth disease, AR-CMT2A. All patients were found to be homozygous for the same...
Neuromolecular Med. - issue: 1 - volume: 14 - pages: 40-52.

Blandin, G.  et al. 2012

UMD-DYSF, a novel locus specific database for the compilation and interactive analysis of mutations in the dysferlin gene

Mutations in the dysferlin gene (DYSF) lead to a complete or partial absence of the dysferlin protein in skeletal muscles and are at the origin of dysferlinopathies, a heterogeneous group of rare...
Hum. Mutat. - issue: 3 - volume: 33 - pages: E2317-2331.

Blandin, G.  et al. 2012

UMD-DYSF, a novel locus specific database for the compilation and interactive analysis of mutations in the dysferlin gene

Mutations in the dysferlin gene (DYSF) lead to a complete or partial absence of the dysferlin protein in skeletal muscles and are at the origin of dysferlinopathies, a heterogeneous group of rare...
Hum. Mutat. - issue: 3 - volume: 33 - pages: E2317-2331.

Humbertclaude, V.  et al. 2012

Motor and respiratory heterogeneity in Duchenne patients: Implication for clinical trials

Aims: Our objective was to clarify the clinical heterogeneity in Duchenne muscular dystrophy (DMD). Methods: The French dystrophinopathy database provided clinical, histochemical and molecular data of...
Eur. J. Paediatr. Neurol. - issue: 2 - volume: 16 - pages: 149-160.

Bonnans, C.  et al. 2012

Essential requirement for beta-arrestin2 in mouse intestinal tumors with elevated Wnt signaling

beta-Arrestins (Arrb) participate in the regulation of multiple signaling pathways, including Wnt/beta-catenin, the major actor in human colorectal cancer initiation. To better understand the roles of...
Proc. Natl. Acad. Sci. U. S. A. - issue: 8 - volume: 109 - pages: 3047-3052.

Soheili, T.  et al. 2012

Rescue of sarcoglycan mutations by inhibition of endoplasmic reticulum quality control is associated with minimal structural modifications

Sarcoglycanopathies (SGP) are a group of autosomal recessive muscle disorders caused by primary mutations in one of the four sarcoglycan genes. The sarcoglycans (α-, β-, γ-, and δ-sarcoglycan) form a...
Hum. Mutat. - issue: 2 - volume: 33 - pages: 429-439.

Soheili, T.  et al. 2012

Rescue of sarcoglycan mutations by inhibition of endoplasmic reticulum quality control is associated with minimal structural modifications

Sarcoglycanopathies (SGP) are a group of autosomal recessive muscle disorders caused by primary mutations in one of the four sarcoglycan genes. The sarcoglycans (α-, β-, γ-, and δ-sarcoglycan) form a...
Hum. Mutat. - issue: 2 - volume: 33 - pages: 429-439.

Samadi, A.  et al. 2012

Surgical management of patients with Marfan syndrome: Evolution throughout the years

Aim. To evaluate the evolution of surgical management in a large population of patients with Marfan syndrome. Methods. This is a retrospective study of patients fulfilling the Ghent criteria for...
Arch. Cardiovasc. Dis. - issue: 2 - volume: 105 - pages: 84-90.

Jondeau, G.  et al. 2012

Aortic Event Rate in the Marfan Population A Cohort Study

Background-Optimal management, including timing of surgery, remains debated in Marfan syndrome because of a lack of data on aortic risk associated with this disease. Methods and Results-We used our...
Circulation - issue: 2 - volume: 125 - pages: 226-232.

Bartoli, M.  et al. 2012

Validation of comparative genomic hybridization arrays for the detection of genomic rearrangements of the calpain-3 and dysferlin genes


Clin. Genet. - issue: 1 - volume: 81 - pages: 99-101.

Bartoli, M.  et al. 2012

Validation of comparative genomic hybridization arrays for the detection of genomic rearrangements of the calpain-3 and dysferlin genes


Clin. Genet. - issue: 1 - volume: 81 - pages: 99-101.

Krahn, M.  et al. 2011

Eosinophilic infiltration related to CAPN3 mutations: a pathophysiological component of primary calpainopathy?


Clin. Genet. - issue: 4 - volume: 80 - pages: 398-402.

Barthélémy, F.  et al. 2011

Translational research and therapeutic perspectives in dysferlinopathies

Dysferlinopathies are autosomal recessive disorders caused by mutations in the dysferlin (DYSF) gene, encoding the dysferlin protein. DYSF mutations lead to a wide range of muscular phenotypes, with...
Mol. Med. - issue: 9-10 - volume: 17 - pages: 875-882.

Barthélémy, F.  et al. 2011

Translational research and therapeutic perspectives in dysferlinopathies

Dysferlinopathies are autosomal recessive disorders caused by mutations in the dysferlin (DYSF) gene, encoding the dysferlin protein. DYSF mutations lead to a wide range of muscular phenotypes, with...
Mol. Med. - issue: 9-10 - volume: 17 - pages: 875-882.

Bernard, G.  et al. 2011

Mutations of POLR3A encoding a catalytic subunit of RNA polymerase Pol III cause a recessive hypomyelinating leukodystrophy

Leukodystrophies are a heterogeneous group of inherited neurodegenerative disorders characterized by abnormal white matter visible by brain imaging. It is estimated that at least 30% to 40% of...
Am. J. Hum. Genet. - issue: 3 - volume: 89 - pages: 415-423.

Krahn, M.  et al. 2011

172nd ENMC International Workshop: dysferlinopathies 29-31 January 2010, Naarden, The Netherlands


Neuromuscul. Disord. - issue: 7 - volume: 21 - pages: 503-512.

Simonet, T.  et al. 2011

The human TTAGGG repeat factors 1 and 2 bind to a subset of interstitial telomeric sequences and satellite repeats

The study of the proteins that bind to telomeric DNA in mammals has provided a deep understanding of the mechanisms involved in chromosome-end protection. However, very little is known on the binding...
Cell Res. - issue: 7 - volume: 21 - pages: 1028-1038.

Vernengo, L.  et al. 2011

Novel ancestral Dysferlin splicing mutation which migrated from the Iberian peninsula to South America

Primary dysferlinopathies are a group of recessive heterogeneous muscular dystrophies. The most common clinical presentations are Miyoshi myopathy and LGMD2B. Additional presentations range from...
Neuromuscul. Disord. - issue: 5 - volume: 21 - pages: 328-337.

Ortolano, S.  et al. 2011

A novel MYH7 mutation links congenital fiber type disproportion and myosin storage myopathy

This study aimed to identify the genetic defect in a multigenerational family presenting an autosomal dominant myopathy with histological features of congenital fiber type disproportion. Linkage...
Neuromuscul. Disord. - issue: 4 - volume: 21 - pages: 254-262.

Medlej-Hashim, M.  et al. 2011

Familial Mediterranean fever in a large Lebanese family: multiple MEFV mutations and evidence for a Founder effect of the p.[M694I] mutation

Familial Mediterranean fever (FMF) is an autoinflammatory autosomal recessive disease characterized by recurrent fever crises and serous inflammation. The MEFV gene responsible for the disease was...
Eur J Med Genet - issue: 1 - volume: 54 - pages: 50-54.

Chouery, E.  et al. 2011

A whole-genome scan in a large family with leukodystrophy and oligodontia reveals linkage to 10q22

Dentoleukoencephalopathies with autosomal recessive inheritance are very rare. Recently, a large inbred Syrian pedigree was reported with oligodontia in association with a degenerative neurologic...
Neurogenetics - issue: 1 - volume: 12 - pages: 73-78.

Laure, L.  et al. 2010

A new pathway encompassing calpain 3 and its newly identified substrate cardiac ankyrin repeat protein is involved in the regulation of the nuclear factor-κB pathway in skeletal muscle

A multiprotein complex encompassing a transcription regulator, cardiac ankyrin repeat protein (CARP), and the calpain 3 protease was identified in the N2A elastic region of the giant sarcomeric...
FEBS J. - issue: 20 - volume: 277 - pages: 4322-4337.

Nicolas, E.  et al. 2010

CAMOS, a nonprogressive, autosomal recessive, congenital cerebellar ataxia, is caused by a mutant zinc-finger protein, ZNF592

CAMOS (Cerebellar Ataxia with Mental retardation, Optic atrophy and Skin abnormalities) is a rare autosomal recessive syndrome characterized by a nonprogressive congenital cerebellar ataxia associated...
Eur. J. Hum. Genet. - issue: 10 - volume: 18 - pages: 1107-1113.

Laure, L.  et al. 2010

A new pathway encompassing calpain 3 and its newly identified substrate cardiac ankyrin repeat protein is involved in the regulation of the nuclear factor-kappa B pathway in skeletal muscle

A multiprotein complex encompassing a transcription regulator, cardiac ankyrin repeat protein ( CARP), and the calpain 3 protease was identified in the N2A elastic region of the giant sarcomeric...
FEBS J. - issue: 20 - volume: 277 - pages: 4322-4337.

Krahn, M.  et al. 2010

A naturally occurring human minidysferlin protein repairs sarcolemmal lesions in a mouse model of dysferlinopathy

Dysferlinopathies are autosomal recessive, progressive muscle dystrophies caused by mutations in DYSF, leading to a loss or a severe reduction of dysferlin, a key protein in sarcolemmal repair....
Sci Transl Med - issue: 50 - volume: 2 - pages: 50ra69.

Krahn, M.  et al. 2010

A naturally occurring human minidysferlin protein repairs sarcolemmal lesions in a mouse model of dysferlinopathy

Dysferlinopathies are autosomal recessive, progressive muscle dystrophies caused by mutations in DYSF, leading to a loss or a severe reduction of dysferlin, a key protein in sarcolemmal repair....
Sci Transl Med - issue: 50 - volume: 2 - pages: 50ra69.

Lévy, N.  et al. 2010

Therapeutic exon 'switching' for dysferlinopathies?


Eur. J. Hum. Genet. - issue: 9 - volume: 18 - pages: 969-970; author reply 971.

Lévy, N.  et al. 2010

Therapeutic exon 'switching' for dysferlinopathies?


Eur. J. Hum. Genet. - issue: 9 - volume: 18 - pages: 969-970; author reply 971.

Ye, J.  et al. 2010

TRF2 and apollo cooperate with topoisomerase 2alpha to protect human telomeres from replicative damage

Human telomeres are protected from DNA damage by a nucleoprotein complex that includes the repeat-binding factor TRF2. Here, we report that TRF2 regulates the 5' exonuclease activity of its binding...
Cell - issue: 2 - volume: 142 - pages: 230-242.

Falandry, C.  et al. 2010

CLLD8/KMT1F is a lysine methyltransferase that is important for chromosome segregation

Proteins bearing a SET domain have been shown to methylate lysine residues in histones and contribute to chromatin architecture. Methylation of histone H3 at lysine 9 (H3K9) has emerged as an...
J. Biol. Chem. - issue: 26 - volume: 285 - pages: 20234-20241.

Ourliac-Garnier, I.  et al. 2010

Platination of telomeric DNA by cisplatin disrupts recognition by TRF2 and TRF1

Telomeres, the nucleoprotein complexes located at the ends of chromosomes, are involved in chromosome protection and genome stability. Telomeric repeat binding factor 1 (TRF1) and telomeric repeat...
J. Biol. Inorg. Chem. - issue: 5 - volume: 15 - pages: 641-654.

Lostal, W.  et al. 2010

Efficient recovery of dysferlin deficiency by dual adeno-associated vector-mediated gene transfer

Deficiency of the dysferlin protein presents as two major clinical phenotypes: limb-girdle muscular dystrophy type 2B and Miyoshi myopathy. Dysferlin is known to participate in membrane repair,...
Hum. Mol. Genet. - issue: 10 - volume: 19 - pages: 1897-1907.

Lostal, W.  et al. 2010

Efficient recovery of dysferlin deficiency by dual adeno-associated vector-mediated gene transfer

Deficiency of the dysferlin protein presents as two major clinical phenotypes: limb-girdle muscular dystrophy type 2B and Miyoshi myopathy. Dysferlin is known to participate in membrane repair,...
Hum. Mol. Genet. - issue: 10 - volume: 19 - pages: 1897-1907.

Arnoult, N.  et al. 2010

Replication timing of human telomeres is chromosome arm-specific, influenced by subtelomeric structures and connected to nuclear localization

The mechanisms governing telomere replication in humans are still poorly understood. To fill this gap, we investigated the timing of replication of single telomeres in human cells. Using in situ...
PLoS Genet. - issue: 4 - volume: 6 - pages: e1000920.

Wein, N.  et al. 2010

Efficient bypass of mutations in dysferlin deficient patient cells by antisense-induced exon skipping

Mutations in DYSF encoding dysferlin cause primary dysferlinopathies, autosomal recessive diseases that mainly present clinically as Limb Girdle Muscular Dystrophy type 2B and Miyoshi myopathy. More...
Hum. Mutat. - issue: 2 - volume: 31 - pages: 136-142.

Wein, N.  et al. 2010

Efficient bypass of mutations in dysferlin deficient patient cells by antisense-induced exon skipping

Mutations in DYSF encoding dysferlin cause primary dysferlinopathies, autosomal recessive diseases that mainly present clinically as Limb Girdle Muscular Dystrophy type 2B and Miyoshi myopathy. More...
Hum. Mutat. - issue: 2 - volume: 31 - pages: 136-142.

Krahn, M.  et al. 2010

Exclusion of mutations in the dysferlin alternative exons 1 of DYSF-v1, 5a, and 40a in a cohort of 26 patients

Mutations in the gene encoding dysferlin (DYSF; MIM# 603009, 2p13, GenBank NM_003494.2) cause primary dysferlinopathies, which are autosomal recessive muscular dystrophies. DYSF has a large mutational...
Genet Test Mol Biomarkers - issue: 1 - volume: 14 - pages: 153-154.

Krahn, M.  et al. 2010

Exclusion of mutations in the dysferlin alternative exons 1 of DYSF-v1, 5a, and 40a in a cohort of 26 patients

Mutations in the gene encoding dysferlin (DYSF; MIM# 603009, 2p13, GenBank NM_003494.2) cause primary dysferlinopathies, which are autosomal recessive muscular dystrophies. DYSF has a large mutational...
Genet Test Mol Biomarkers - issue: 1 - volume: 14 - pages: 153-154.

Ottaviani, A.  et al. 2010

D4Z4 as a prototype of CTCF and lamins-dependent insulator in human cells

Using cellular models that mimic the organizations of the subtelomeric 4q35 locus found in patients affected with Facio-Scapulo-Humeral Dystrophy (FSHD) and in healthy individuals, we recently...
Nucleus - issue: 1 - volume: 1 - pages: 30-36.

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