Virginie Carmignac
A5063819399- Genetic and rare skin diseases.
- Genetic Syndromes and Imprinting
- Muscle Physiology and Disorders
- Vascular Malformations and Hemangiomas
- RNA regulation and disease
- Cell Adhesion Molecules Research
- Tumors and Oncological Cases
- Immunodeficiency and Autoimmune Disorders
- Genomics and Rare Diseases
- Connective tissue disorders research
- Cardiomyopathy and Myosin Studies
- Dermatologic Treatments and Research
- Genetics and Neurodevelopmental Disorders
- Blood disorders and treatments
- Prenatal Screening and Diagnostics
- Platelet Disorders and Treatments
- Ubiquitin and proteasome pathways
- RNA Research and Splicing
- Renal and related cancers
- melanin and skin pigmentation
- Genomic variations and chromosomal abnormalities
- Hedgehog Signaling Pathway Studies
- Protein Tyrosine Phosphatases
- Cellular Mechanics and Interactions
- TGF-β signaling in diseases
Université de Bourgogne
2015-2024
Inserm
2007-2024
Université Bourgogne Franche-Comté
2017-2023
Maison des Sciences de l’Homme de Dijon
2021-2022
Laboratoire de Neurosciences Cognitives
2022
CHU Dijon Bourgogne
2017-2021
Centre de recherche Translationnelle en Médecine moléculaire
2017-2021
Expression Génétique Microbienne
2019
Magen David Adom
2019
Fédération Hospitalo-Universitaire, Paris Center for Microbiome Medicine
2017
Abstract Objective The giant protein titin is essential for striated muscle development, structure, and elasticity. All mutations reported to date cause late‐onset, dominant disorders involving either skeletal or the heart. Our aim was delineate phenotype determine genetic defects in two consanguineous families with an early‐onset, recessive cardiac disorder. Methods Clinical myopathological reevaluation of five affected children, positional cloning, immunofluorescence, Western blot studies...
Obscurin, a giant modular muscle protein implicated in G-protein and protein-kinase signalling, can localize to both sarcomeric Z-disks M-bands. Interaction of obscurin with the Z-disk is mediated by titin. Here, we unravel molecular basis for unusual localization obscurin, Z-disk-associated protein, M-band, where its invertebrate analogue UNC-89 also localized. The first three domains N-terminus bind most C-terminal domain M-band titin, as well myomesin. Both proteins interact N-terminal...
Congenital muscular dystrophy caused by laminin α2 chain deficiency (also known as MDC1A) is a severe and incapacitating disease, characterized massive muscle wasting. The ubiquitin-proteasome system plays major role in wasting we recently demonstrated that increased proteasomal activity feature of MDC1A. autophagy-lysosome pathway the other involved degradation proteins organelles within cell. However, it remains to be determined if dysregulated dystrophies, including Using dy3K/dy3K mouse...
<h3>Importance</h3> Sirolimus is increasingly being used to treat various vascular anomalies, although evidence of its efficacy lacking. <h3>Objective</h3> To assess the and safety sirolimus for children with slow-flow malformations better delineate indications treatment. <h3>Design, Setting Participants</h3> This multicenter, open-label, observational-phase randomized clinical trial included 59 aged 6 18 years a malformation who were recruited between September 28, 2015, March 22, 2018, in...
Cohen syndrome (CS) is a rare autosomal recessive disorder with multisytemic clinical features due to mutations in the VPS13B gene, which has recently been described encoding mandatory membrane protein involved Golgi integrity. As complex place where glycosylation of newly synthesized proteins occurs, we hypothesized that deficiency, responsible apparatus disturbance, could lead defects and/or mysfunction this organelle, and thus be cause main manifestations CS. The status CS serum showed...
Do assisted reproductive technologies alter DNA methylation and/or transcription of transposable elements and imprinted genes in cord blood placenta?After ART, changes some were found placenta samples while modifications for also discovered blood.Recent studies have confirmed the increased risk placenta-related adverse pregnancy outcomes excess disorders with abnormal patterns after which raises issue a potential ART-induced epigenetic risk.A total 51 IVF/ICSI (15 conventional 36 ICSI)...
Significance Hematopoietic stem cell aging has been directly linked to the development of several hematological disorders, including myeloproliferative diseases. Here we show that in elderly mice (20 mo old), physiological hematopoietic system is a decreased expression transcription intermediary factor 1γ (Tif1γ) HSCs. In turn, young Tif1γ −/− (4 hematopoiesis phenotype exacerbated. both sets mice, level controls TGF-β receptor 1 (Tgfbr1) turnover and subtly regulates number myeloid-biased...
Muscle atrophy, a significant characteristic of congenital muscular dystrophy with laminin α2 chain deficiency (also known as MDC1A), occurs by change in the normal balance between protein synthesis and degradation. The ubiquitin–proteasome system (UPS) plays key role degradation skeletal muscle cells. In order to identify new targets for drug therapy against MDC1A, we have investigated whether increased proteasomal is feature MDC1A. Using generated dy3K/dy3K mutant mouse model studied...
Abstract X‐linked intellectual disability (XLID) is a genetically heterogeneous condition involving more than 100 genes. To date, 35 pathogenic variants have been reported in the lysine specific demethylase 5C ( KDM5C ) gene. are one of major causes moderate to severe XLID. Affected males present with short stature, distinctive facial features, behavioral disorders, epilepsy, and spasticity. For most these variants, related female carriers reported, but phenotypic descriptions were poor....
<h3>Background</h3> Non-progressive congenital ataxias (NPCA) with or without intellectual disability (ID) are clinically and genetically heterogeneous conditions. As a consequence, the identification of genes responsible for these phenotypes remained limited. <h3>Objective</h3> Identification new gene NPCA ID. <h3>Methods</h3> Following discovery three familial sporadic cases an intragenic calmodulin-binding transcription activator 1 (<i>CAMTA1</i>) rearrangement identified by array-CGH...
Shprintzen–Goldberg syndrome (SGS) is a multisystemic connective tissue disorder, with considerable clinical overlap Marfan and Loeys–Dietz syndromes. These syndromes have commonly been associated enhanced TGF-β signaling. In SGS patients, heterozygous point mutations mapped to the transcriptional co-repressor SKI, which negative regulator of signaling that rapidly degraded upon ligand stimulation. The molecular consequences these mutations, however, are not understood. Here we use...
Laminin alpha2 chain mutations cause congenital muscular dystrophy with dysmyelination neuropathy (MDC1A). Previously, we demonstrated that laminin alpha1 ameliorates the disease in mice. Dystroglycan and integrins are major receptors. Unlike chain, binds receptors by separate domains; globular (LG) domains 4 LG1-3, respectively. Thus, is an excellent tool to distinguish between roles of dystroglycan neuromuscular system.Here, provide insights into functions alpha1LG division their MDC1A...
PurposeHypomelanosis of Ito (HI) is a skin marker somatic mosaicism. Mosaic MTOR pathogenic variants have been reported in HI with brain overgrowth. We sought to delineate further the pigmentary phenotype and clinical spectrum neurodevelopmental manifestations MTOR-related HI.MethodsFrom two cohorts totaling 71 patients mosaicism, we identified 14 Blaschko-linear one flag-like pigmentation abnormalities, psychomotor impairment or seizures, postzygotic variant skin. Patient records, including...