A5036881288- Cystic Fibrosis Research Advances
- Neonatal Respiratory Health Research
- Tracheal and airway disorders
- Genomics and Rare Diseases
- Neurogenetic and Muscular Disorders Research
- RNA modifications and cancer
- Advanced biosensing and bioanalysis techniques
- RNA Research and Splicing
- Immunodeficiency and Autoimmune Disorders
- Epigenetics and DNA Methylation
- Congenital Ear and Nasal Anomalies
- Radioactivity and Radon Measurements
- Cancer-related gene regulation
- MicroRNA in disease regulation
- Muscle Physiology and Disorders
- Radiation Dose and Imaging
- Sinusitis and nasal conditions
- IL-33, ST2, and ILC Pathways
- Organic Chemistry Cycloaddition Reactions
- Heavy metals in environment
- Blood Coagulation and Thrombosis Mechanisms
- Mycobacterium research and diagnosis
- Prenatal Screening and Diagnostics
- DNA Repair Mechanisms
- Heavy Metal Exposure and Toxicity
Inserm
2009-2024
COMUE Languedoc-Roussillon Universités
2024
Université de Montpellier
2014-2023
Centre National de la Recherche Scientifique
2021-2023
Physiologie et Médecine Expérimentale du Coeur et des Muscles
2022-2023
Centre Hospitalier Universitaire de Montpellier
2014-2022
Institut Universitaire de Recherche Clinique
2022
Institut de Génétique Moléculaire de Montpellier
2004-2013
Hôpital Arnaud de Villeneuve
2007-2009
Institut de Radioprotection et de Sûreté Nucléaire
2004-2006
G protein-coupled receptor (GPCR) oligomerization is a growing concept that has emerged from several studies suggesting GPCRs can form both homo- and heterodimers. Using coimmunoprecipitation bioluminescence resonance energy transfer (BRET) approaches, we established the vasopressin V1a, V2, oxytocin receptors exist as hetero-dimers in transfected human embryonic kidney 293T cells. Each protomer had similar propensity to heterodimers, indicating their relative expression levels may determine...
The CFTR gene displays a tightly regulated tissue-specific and temporal expression. Mutations in this cause cystic fibrosis (CF). In study we wanted to identify trans -regulatory elements responsible for differential expression fetal adult lung, determine the importance of inhibitory motifs -3′UTR with aim developing new tools correction disease-causing mutations within . We show that lung development-specific transcription factors (FOXA, C/EBP) microRNAs (miR-101, miR-145, miR-384) regulate...
Cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS) is an inherited late-onset neurological disease caused by bi-allelic AAGGG pentanucleotide expansions within intron 2 of RFC1. Despite extensive studies, the pathophysiological mechanism these intronic remains elusive. We screened clinical exome sequencing two unrelated patients presenting with ataxia. A repeat-primer polymerase chain reaction was used for RFC1 expansion identification. mRNA expression assessed...
Although the nephrotoxicity of uranium has been established through numerous animal studies, relatively little is known about effects long-term environmental exposure. Using a combination conventional biochemical studies and serial analysis gene expression (SAGE), we examined renal responses to uranyl nitrate (UN) chronic Renal levels were significantly increased 4 months after ingestion in drinking water. Creatinine serum slightly but compared with those controls. no further significant...
Although the nephrotoxicity of uranium has been established through numerous animal studies, relatively little is known about effects long-term environmental exposure.Using a combination conventional biochemical studies and serial analysis gene expression (SAGE), we examined renal responses to uranyl nitrate (UN) chronic exposure.Renal levels were significantly increased 4 months after ingestion in drinking water.Creatinine serum slightly but compared with those controls.Although no further...
Chemical and radiological toxicities related to uranium acute exposure have been widely studied in nuclear fuel workers military personnel. It is well known that uranyl nitrate induces renal failure (ARF). However, the mechanisms of this metal-induced injury are not defined at molecular level.Renal function histology were assessed mice receiving (UN(+)) controls (UN(-)). To identify genomic response exposure, serial analysis gene expression (SAGE) kidney was performed both groups. Over...
Abstract Background By performing extensive scanning of whole coding and flanking sequences the CFTR (Cystic Fibrosis Transmembrane Conductance Regulator ) gene, we had previously identified point mutations in 167 out 182 (91.7%) males with isolated congenital bilateral absence vas deferens (CBAVD). Conventional PCR-based methods mutation analysis do not detect gross DNA lesions. In this study, looked for large rearrangements within locus 32 CBAVD patients only one or no mutation. Methods We...
Molecular diagnosis of cystic fibrosis and transmembrane regulator (CFTR)-related disorders led to the worldwide identification nearly 1,900 sequence variations in CFTR gene that consist mainly private point mutations small insertions/deletions. Establishing their effect on function encoded protein therefore involvement disease is still challenging directly impacts genetic counseling. In this context, we built a decision tree following international guidelines for classification variants...
Abstract We have analysed the splicing pattern of human Duchenne Muscular Dystrophy ( DMD ) transcript in normal skeletal muscle. To achieve depth coverage required for analysis this lowly expressed gene muscle, we designed a targeted RNA-Seq procedure that combines amplification full-length 11.3 kb cDNA sequence and 454 sequencing technology. A high uniform was obtained allowed to draw up reliable inventory physiological alternative events muscular transcript. In contrast previous...
<h3>Background</h3> Congenital bilateral absence of the vas deferens (CBAVD), a frequent cause obstructive azoospermia, is generated by mutations in <i>cystic fibrosis transmembrane conductance regulator</i> (<i>CFTR</i>) gene. Despite extensive testing for point and large rearrangements, small proportion alleles still remains unidentified CBAVD patients. <h3>Methods results</h3> Mutation scanning analysis microsatellite variability <i>CFTR</i> gene identified two undescribed 4 bp sequence...
Impaired airway homeostasis in chronic obstructive pulmonary disease (COPD) could be partly related to club cell secretory protein (CCSP) deficiency. We hypothesize that CCSP G38A polymorphism is involved and aim examine the influence of on transcription levels its regulatory mechanisms. genotype serum sputum were assessed 66 subjects with stable COPD included a 1-yr observational study. Forty-nine them had an exacerbation. In vitro study, impact promoter 38G wild-type or 38A variant was...
The promoter of the cystic fibrosis transmembrane conductance regulator gene CFTR is tightly controlled by regulators including CCAAT/enhancer binding proteins (C/EBPs). We previously reported that transcription factors YY1 and USF2 affect expression. can now demonstrate C/EBPβ, a member CCAAT family, binds to contributes its transcriptional activity. Our data reveal C/EBPβ cooperates with acts antagonistically in control Interestingly, YY1, strong repressor, fails repress activation induced...
Summary Hereditary factor VII (FVII) deficiency is a rare autosomal recessive disorder. Deleterious mutations that prevent the synthesis of any amount functional FVII have been associated with life-threatening haemorrhage in neonates. Here we report two infants, Maghrebian origin, who suffered fatal spontaneous cerebral haemorrhage. Investigation molecular basis for their severe revealed novel homozygous state within F7 gene promoter: single nucleotide substitution (c.-65G>C) and 2bp...