A5089718700- Cystic Fibrosis Research Advances
- Neonatal Respiratory Health Research
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Sexual Differentiation and Disorders
- Animal Genetics and Reproduction
- Inhalation and Respiratory Drug Delivery
- Estrogen and related hormone effects
- Advanced biosensing and bioanalysis techniques
- Genetic and Kidney Cyst Diseases
- Cellular transport and secretion
- Tracheal and airway disorders
- Genetic and phenotypic traits in livestock
- Growth Hormone and Insulin-like Growth Factors
- RNA Interference and Gene Delivery
- Endometriosis Research and Treatment
- Immune cells in cancer
- Venomous Animal Envenomation and Studies
- Adipose Tissue and Metabolism
- Renal and related cancers
- Advanced Chemical Sensor Technologies
- Lipid Membrane Structure and Behavior
- Metalloenzymes and iron-sulfur proteins
- Health, Environment, Cognitive Aging
- Urological Disorders and Treatments
- Organophosphorus compounds synthesis
Inserm
2008-2023
Université Paris Cité
2008-2023
Institut Necker Enfants Malades
2015-2023
Centre National de la Recherche Scientifique
2015-2023
University of Verona
2022
Délégation Paris 5
2008-2018
Institut National de Recherche en Santé Publique
2009
Descartes (Belgium)
2009
Laboratoire de Biologie du Développement
2001-2003
Hebrew University of Jerusalem
2003
In the teleost fish, physiological and biochemical studies suggest that glucocorticoids regulate both salt balance metabolic activities. mammals, however, these functions are divided between mineralocorticoids. separate receptors for two classes of steroid hormone have been cloned sequenced. To begin to understand regulation in fish vital processes ascribed glucocorticoids, we cloned, sequenced, expressed, studied steroid-binding transcriptional activation capabilities rainbow trout...
The association of polledness and intersexuality in domestic goats (PIS mutation) made them a practical genetic model for studying mammalian female-to-male sex reversal. In this study, gonads from XX sex-reversed (PIS-/-) were thoroughly characterized at the molecular histologic level first steps gonadal differentiation (36 days post coitum [dpc]) to birth. signs reversal detectable between 36 40 dpc (4-5 later than XY male) mainly by reduction ovarian cortex organization seminiferous cords....
The lactogenic hormones prolactin (PRL) and placental lactogens (PL) play central roles in reproduction mammary development. Their actions are mediated via binding to PRL receptor (PRLR), highly expressed brown adipose tissue (BAT), yet their impact on adipocyte function metabolism remains unclear.PRLR knockout (KO) newborn mice were phenotypically characterized terms of thermoregulation BAT differentiation assayed for gene expression studies. Derived preadipocyte cell lines established...
The corpus luteum (CL) plays a central role in the maintenance of pregnancy rodents, mainly by secreting progesterone. Female mice lacking prolactin (PRL) receptor (R) are sterile due to failure embryo implantation, which is consequence decreased luteinizing hormone (LH) expression CL and inadequate levels We attempted treat PRLR −/− females with human chorionic gonadotropin (hCG) showed de novo LHR mRNA corpora lutea. Binding analysis confirmed that hCG-treated animals was functional. This...
Molecules correcting the trafficking (correctors) and gating defects (potentiators) of cystic fibrosis causing mutation c.1521_1523delCTT (p.Phe508del) begin to be a useful treatment for CF patients bearing p.Phe508del. This has been identified in different genetic contexts, alone or combination with variants cis. Until now, 21 exonic cis p.Phe508del have identified, albeit at low frequency. The aim this study was evaluate their impact on efficacy CFTR-directed corrector/potentiator therapy...
The mutation F508del, responsible for a majority of cystic fibrosis cases, provokes the instability and misfolding CFTR chloride channel. Pharmacological recovery F508del-CFTR may be obtained with small molecules called correctors. However, treatment single corrector in vivo vitro only leads to partial rescue, consequence cell quality control systems that still detect as defective protein causing its degradation. We tested effect spautin-1 on since it is an inhibitor USP10 deubiquitinase...
Dysfunction of the epithelial anion channel cystic fibrosis transmembrane conductance regulator (CFTR) causes a wide spectrum disease, including (CF) and CFTR-related diseases (CFTR-RDs). Here, we investigate genotype-phenotype-CFTR function relationships using human nasal (hNE) cells from small cohort non-CF subjects individuals with CF CFTR-RDs genotypes associated either residual or minimal CFTR electrophysiological techniques. Collected hNE were studied directly whole-cell patch-clamp...
Cystic fibrosis (CF) is a multifactorial disease caused by mutations in the cystic transmembrane conductance regulator gene ( CFTR), which encodes cAMP-dependent Cl (-) channel. The most frequent mutation, F508del, leads to synthesis of prematurely degraded, otherwise partially functional protein. CFTR expressed many epithelia, with major consequences airways patients CF, characterized both fluid transport abnormalities and persistent inflammatory responses. relationship between acute phase...
Abstract In an attempt to understand the etiology of intersexuality in pigs, we thoroughly analyzed gonads 38,XX (SRY negative) female male sex‐reversed animals at different developmental stages: during fetal life [50 and 70 days postcoitum (dpc)], just after birth [35 postpartum (dpp)] adulthood. For each animal studied, performed parallel histological ultrastructural analyses on one gonad RT‐PCR analysis other order define expression profiles sexually regulated genes: SOX9, 3β‐HSD, P450...
Transgenic female mice overexpressing the hCGβ subunit (hCGβ(+)) and producing elevated levels of luteinizing hormone (LH)/hCG bioactivity present as young adults with enhanced ovarian steroidogenesis, precocious puberty, infertility. They subsequently develop pituitary prolactinomas, high circulating prolactin (PRL) levels, marked mammary gland lobuloalveolar development followed by adenocarcinomas. None these phenotypes appear in gonadectomized mice, indicating that hCG-induced aberrations...
C407 is a compound that corrects the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) protein carrying p.Phe508del (F508del) mutation. We investigated corrector effect of c407 and its derivatives on F508del-CFTR protein. Molecular docking dynamics simulations combined with site-directed mutagenesis suggested stabilizes F508del-Nucleotide Binding Domain 1 (NBD1) during co-translational folding process by occupying position p.Phe1068 side chain located at fourth intracellular loop...
<ns4:p>Cystic fibrosis (CF) is a multifactorial disease caused by mutations in the cystic transmembrane conductance regulator gene (<ns4:italic>CFTR),</ns4:italic>which encodes cAMP-dependent Cl<ns4:sup>-</ns4:sup>channel. The most frequent mutation, F508del, leads to synthesis of prematurely degraded, otherwise partially functional protein. CFTR expressed many epithelia, with major consequences airways patients CF, characterized both fluid transport abnormalities and persistent inflammatory...
Abstract CFTR misfolding due to cystic fibrosis causing mutations can be corrected with small molecules designated as correctors. VX-809, an investigational corrector compound, is believed bind directly either the first membrane-spanning domain (MSD1) and/or nucleotide-binding (NBD1). Blind docking onto 3D structures of these domains, followed by molecular dynamics (MD) simulations, revealed presence two potential VX-809 binding sites which, when mutated, abrogated rescue. Mutations altering...
Pulse-chase and cell metabolic experiments involving 35 S-labelled molecules can be detrimental to your health. Suppliers literature suggest the use of activated charcoal limit contamination without any precise specification. The aim this study is fill in gap. Here, we perform usual procedures, which consist working with available equipment according recommendations radioprotection. We carried out radiotoxicological exams as well dosimetric follow-ups workers. As procedure leads internal...