A5054438252- Epigenetics and DNA Methylation
- RNA regulation and disease
- RNA modifications and cancer
- RNA Research and Splicing
- Genetics and Neurodevelopmental Disorders
- Neurological diseases and metabolism
- Cancer-related molecular mechanisms research
- Glioma Diagnosis and Treatment
- MicroRNA in disease regulation
- Thyroid Disorders and Treatments
- Genomics and Chromatin Dynamics
- Hereditary Neurological Disorders
- Genetic factors in colorectal cancer
- Reproductive System and Pregnancy
- RNA and protein synthesis mechanisms
- Circular RNAs in diseases
- Endometriosis Research and Treatment
- BRCA gene mutations in cancer
- Chromosomal and Genetic Variations
- Gynecological conditions and treatments
- Connexins and lens biology
- Histone Deacetylase Inhibitors Research
- Growth Hormone and Insulin-like Growth Factors
- Cancer Genomics and Diagnostics
- Advancements in Transdermal Drug Delivery
Centre National de la Recherche Scientifique
2010-2022
Clermont Université
2007-2022
Inserm
2010-2022
Université Clermont Auvergne
2010-2022
Genetique Reproduction and Developpement
2011-2019
Génétique Médicale & Génomique Fonctionelle
2008
Centre Jean Perrin
1998-2001
Endometriosis, a common gynecological disorder that causes infertility and pelvic pain, is defined as the presence of endometrial glands stroma within extra-uterine sites. However, despite extensive studies its etiology pathogenesis are not completely understood. Differentially expressed genes were investigated in epithelial stromal cells from deep endometriosis matched eutopic endometrium using cDNA microarrays laser capture microdissection. Validation results several up- down-regulated was...
Abstract Pelizaeus–Merzbacher Disease is an X‐linked hypomyelinatiing leukodystrophy. We report mutations in the thyroid hormone transporter gene MCT8 11% of 53 families affected by hypomyelinating leukodystrophies unknown aetiology. The 12 mutated patients express initially a Pelizaeus–Merzbacher‐Like disease phenotype with latter unusual improvement magnetic resonance imaging white matter signal despite absence clinical progression. This observation underlines interest determining both...
Monocarboxylate transporter 8 (MCT8) transports thyroid hormone (TH) across the plasma membrane. Mutations in MCT8 result Allan-Herndon-Dudley syndrome, comprising severe psychomotor retardation and elevated serum T3 levels. Because neurological symptoms are most likely caused by a lack of TH transport into central nervous system, administration analog that does not require for cellular uptake may represent therapeutic strategy. Here, we investigated potential biologically active metabolite...
In cancer cells, aberrant DNA methylation is commonly associated with transcriptional alterations, including silencing of tumor suppressor genes. However, multiple epigenetic mechanisms, polycomb repressive marks, contribute to gene deregulation in cancer. To dissect the relative contribution methylation–dependent and –independent mechanisms alterations at CpG island/promoter-associated genes cancer, we studied 70 samples adult glioma, a widespread type brain tumor, classified according...
Abstract Background The breadth of the clinical spectrum underlying Pelizaeus-Merzbacher disease and spastic paraplegia type 2 is due to extensive allelic heterogeneity in X-linked PLP1 gene encoding myelin proteolipid protein (PLP). mutations range from duplications variable size found 60-70% patients intragenic lesions present 15-20% patients. Methods Forty-eight male 38 unrelated families with a PLP1-related disorder were studied. All DNA samples screened for using real-time PCR....
SLC 16A2, the gene for second member of solute carrier family 16 (monocarboxylic acid transporter), located on chromosome Xq13.2, encodes a very efficient thyroid hormone transporter: monocarboxylate transporter 8, MCT8. Its loss function is responsible in males continuum psychomotor retardation ranging from severe (no motor acquisition, no speech) to mild (ability walk with help and few words speech). Triiodothyronine uptake measurement transfected cells and, more recently, patient...
In human, the 39 coding HOX genes and 18 referenced noncoding antisense transcripts are arranged in four genomic clusters named HOXA, B, C, D. This highly conserved family belongs to homeobox class of that encode transcription factors required for normal development. Therefore, gene deregulation might contribute development many cancer types. Here, we study adult glioma, a common type primary brain tumor. We performed extensive molecular analysis tumor samples, classified according their...
Besides the consequences of retrotransposition, long interspersed element 1 (L1) retrotransposons can affect host genome through their antisense promoter. In addition to sense promoter, evolutionarily recent L1 retrotransposons, which are present in several thousand copies, also possess an anti-sense promoter that produce chimeric transcripts (LCT) composed 5' UTR followed by adjacent genomic sequence. The full extent LCT expression occurs a given tissue and whether disruption defense...
Abstract Pelizaeus‐Merzbacher disease (PMD) is a fatal hypomyelinating disorder characterized by early impairment of motor development, nystagmus, choreoathetotic movements, ataxia and progressive spasticity. PMD caused variations in the proteolipid protein gene PLP1 , which encodes two major myelin proteins central nervous system, PLP its spliced isoform DM20, oligodendrocytes. Large duplications including entire are most frequent causative mutation leading to classical form PMD. The Plp1...
The proteolipid protein 1 (PLP1) gene encodes the two major proteins of central nervous system (CNS) myelin: PLP and DM20. PLP1 mutations are associated with a large spectrum X-linked dysmyelinating disorders ranging from hypomyelinating leukodystrophy, Pelizaeus-Merzbacher disease (PMD), to spastic paraplegia (SPG2) according nature mutation. Genetic heterogeneity exists in gap-junction alpha 12 (GJA12) have been related PMD. About 20% patients PMD phenotype remain without mutation these...
Malignant gliomas are the most common primary brain tumors. Grade III and IV harboring wild-type IDH1/2 aggressive. In addition to surgery radiotherapy, concomitant adjuvant chemotherapy with temozolomide (TMZ) significantly improves overall survival (OS). The methylation status of O 6 -methylguanine-DNA methyltransferase ( MGMT ) promoter is predictive TMZ response a prognostic marker cancer outcome. However, regions which correlates best in aggressive glioma whether value could be refined...
L1 Chimeric Transcripts (LCTs) are initiated by repeated LINE-1 element antisense promoters and include the 5'UTR sequence in orientation followed adjacent genomic region. LCTs have been characterized mainly using bioinformatics approaches to query dbEST. To take advantage of NGS data unravel transcriptome composition, we developed LIne Finder (CLIFinder), a new tool. Using stranded paired-end RNA-seq data, demonstrated that CLIFinder can identify genome-wide transcribed chimera sequences...
Glioblastomas represent approximatively half of all gliomas and are the most deadly aggressive form. Their therapeutic resistance tumor relapse rely on a subpopulation cells that called Glioma Stem Cells (GSCs). Here, we investigated role long non-coding RNA HOXA-AS2 in GSC biology using descriptive functional analyses glioma samples classified according to their isocitrate dehydrogenase (IDH) gene mutation status, lines. We found is overexpressed only (IDHwt) ShRNA-based depletion GSCs...
Abstract Two brothers with a leukodystrophy, progressive spastic diplegia, and peripheral neuropathy were found to have proteinaceous aggregates in the nerve myelin sheath. The patients' mother had only subclinical neuropathy, but maternal grandmother adult‐onset leukodystrophy. Sequencing of proteolipid protein (PLP) gene showed point mutation IVS4 + 1 G→A within donor splice site intron 4. We identified one transcript deletion exon 4 (Δex4, 169bp) encoding for PLP DM20 proteins lacking two...
The inherited disorders of CNS myelin formation represent a heterogeneous group leukodystrophies. proteolipoprotein (PLP1) gene has been implicated in two X-linked forms, Pelizaeus-Merzbacher disease (PMD) and spastic paraplegia type 2, the gap junction protein alpha12 (GJA12) recessive form PMD. basic (MBP) gene, which encodes second most abundant after PLP1, presents rearrangements hypomyelinating murine mutants is always included minimal region deleted 18q- patients with an abnormal...