A5074012648- Galectins and Cancer Biology
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Developmental Biology and Gene Regulation
- Sexual Differentiation and Disorders
- dental development and anomalies
- Signaling Pathways in Disease
- Genomics and Chromatin Dynamics
- Muscle Physiology and Disorders
- Animal Genetics and Reproduction
- Glycosylation and Glycoproteins Research
- CRISPR and Genetic Engineering
- Fire effects on ecosystems
- Viral Infections and Vectors
- Viral Infections and Outbreaks Research
- Cardiomyopathy and Myosin Studies
- Urological Disorders and Treatments
- RNA modifications and cancer
- RNA Research and Splicing
- Congenital limb and hand anomalies
- Pluripotent Stem Cells Research
- Hedgehog Signaling Pathway Studies
- Oral and Maxillofacial Pathology
- Reproductive System and Pregnancy
- Moyamoya disease diagnosis and treatment
- Sirtuins and Resveratrol in Medicine
Université Paris Cité
2004-2024
Institut Pasteur
1993-2024
Laboratoire de Biologie du Développement
2024
Biologie du Développement et Cellules Souches
2024
Centre National de la Recherche Scientifique
1992-2020
Sorbonne Université
2008-2013
École Nationale Vétérinaire d'Alfort
2013
Institut Jacques Monod
2002-2008
Systématique, adaptation, évolution
2008
The Honourable Society of Lincoln's Inn
2002
In a gene trap screen we recovered mouse mutant line in which an insertion generated null allele of the Brd4 gene.Brd4 belongs to Fsh/Brd family, group structurally related proteins characterized by association two bromodomains and one extraterminal domain.Members this family include Brd2/Ring3/ Fsrg1 mammals, fs(1)h Drosophila, Bdf1 Saccharomyces cerevisiae.Brd4 heterozygotes display preand postnatal growth defects associated with reduced proliferation rate.These mice also exhibit variety...
Galectins form a family of structurally related carbohydrate binding proteins (lectins) that have been identified in large variety metazoan phyla. They are involved many biological processes such as morphogenesis, control cell death, immunological response, and cancer. To elucidate the evolutionary history galectins galectin-like chordates, we exploited three independent lines evidence: (i) location galectin encoding genes (LGALS) human genome; (ii) exon-intron organization genes; (iii)...
Galectins, a family of beta-galactoside binding lectins, have recently emerged as novel regulators tissue homeostasis. Galectin-7 is predominantly expressed in stratified epithelia, especially epidermis. We report here the generation galectin-7-deficient mice that are viable and do not display phenotypical abnormalities skin structure or expression epidermal markers. However, these show unique defects maintenance homeostasis response to environmental challenges. First, after UVB irradiation...
XY individuals with disorders/differences of sex development (DSD) are characterized by reduced androgenization caused, in some children, gonadal dysgenesis or testis regression during fetal development. The genetic etiology for most patients 46,XY and all testicular syndrome (TRS) is unknown. We performed exome and/or Sanger sequencing 145 DSD unknown including TRS. Thirteen children carried heterozygous missense pathogenic variants involving the RNA helicase DHX37, which essential ribosome...
SUMMARY In myoblast cell cultures, the Msx1 protein is able to repress myogenesis and maintain cells in an undifferentiated proliferative state. However, there has been no evidence that expressed muscle or its precursors vivo. Using mice with nlacZ gene integrated into locus, we show reporter lateral dermomyotome of brachial thoracic somites. Cells from this region will subsequently contribute forelimb intercostal muscles. Pax3 transcripts as a marker limb progenitor they migrate somites,...
Abstract The Y-linked SRY gene initiates mammalian testis-determination. However, how the expression of is regulated remains elusive. Here, we demonstrate that a conserved steroidogenic factor-1 (SF-1)/NR5A1 binding enhancer required for appropriate to initiate testis-determination in humans. Comparative sequence analysis 5’ regions mammals identified an evolutionary SF-1/NR5A1-binding motif within 250 bp region open chromatin located 5 kilobases upstream transcription start site. Genomic...
NR2F2 encodes COUP-TFII, an orphan nuclear receptor required for the development of steroidogenic lineages murine fetal testes and ovaries. Pathogenic variants in human are associated with testis formation 46,XX individuals, however, function COUP-TFII is unknown. We report a de novo heterozygous variant (c.737G > A, p.Arg246His) 46,XY under-masculinized boy primary hypogonadism. The variant, located within ligand-binding domain, predicted to be highly damaging. In vitro studies indicated...
Abstract The utrophin (UTRN) locus is the autosomal homologue of DMD (Duchenne muscular dystrophy) gene and encodes a protein, which thought to be upregulated in absence dystrophin. In this study spatial temporal expression UTRN has been examined during mouse embryogenesis compared with that gene. patterns these two genes are very different. Whilst expressed largely mesodermal derivatives such as cardiac striated muscle, shows more widespread distribution neural tube, tissues originate from...
Abstract We report results from a study of Hox‐7 expression during mouse embryonic and fetal development compare the localization transcripts with those retinoic acid receptors. Transcripts were detected by in situ hybridization. occurs (1) cephalic neural crest its derivatives, (2) sites ectomesodermal interaction, (3) extraembryonic tissues, (4) endocardial cells. does not seem to be involved defining rostrocaudal boundaries, but instead appears expressed along proximodistal axes at these...
ABSTRACT Experimental manipulation in birds has shown that trunk dermis a double origin: dorsally, it derives from the somite dermomyotome, while ventrally, is formed by somatopleure. Taking advantage of an nlacZ reporter gene integrated into mouse Msx1 locus (Msx1nlacZ allele), we detected segmental expression cells dorsal mesenchyme between embryonic days 11 and 14. Replacing somites chick host embryo murine Msx1nlacZ allowed us to demonstrate these Msx1-β-galactosidase positive are...
The spatial and temporal expression of the dystrophin gene has been examined during mouse embryogenesis, using in situ hybridization on tissue sections with a probe from 5' end coding sequence. In striated muscle, transcripts are detectable about 9 d heart slightly later skeletal muscle. However, there is an important difference between two types muscle: already functional as contractile organ before appearance transcripts, whereas this not case where myosin heavy chain first at same time....
The galectin-4 protein is mostly expressed in the digestive tract and associated with lipid raft stabilization, apical trafficking, wound healing, inflammation. While most mammalian species, including humans, have a single Lgals4 gene, some mice two paralogues: Lgals6. So far, their significant similarities hindered analysis of respective expression function. We took advantage antibodies that discriminate between galectin-6 proteins to document patterns normal dextran sodium sulfate...
Abstract Duplications of genes are widely considered to be a driving force in the evolutionary process. The fate such duplicated (paralogs) depends mainly on early stages their evolution. Therefore, study duplications that have already started diverge is useful better understand We present here example 2-million-year-old segmental duplication at origin Lgals4 and Lgals6 mouse genome. analyzed distribution these samples from 110 wild individuals wild-derived inbred strains belonging eight...
Abstract Infection of mice with Rift Valley fever virus (RVFV) reproduces major pathological features severe human disease, notably the early-onset hepatitis and delayed-onset encephalitis. We previously reported that Rvfs2 locus from susceptible MBT/Pas strain reduces survival time after RVFV infection. Here, we used BALB/cByJ (BALB) congenic for (C.MBT- ) to investigate pathophysiological mechanisms impacted by . Clinical, biochemical histopathological indicated similar liver damage in...
Abstract NR2F2 encodes COUP-TFII, an orphan nuclear receptor involved in mammalian gonadogenesis. COUP-TFII is expressed the interstitial/stromal compartment of both fetal testes and ovaries, where it required for developing steroidogenic lineages. Pathogenic variants human are linked to testis formation 46,XX individuals (46,XX d isorders s ex evelopment, DSD). Such findings propose a regulatory role ovary, whereas its function remains unknown. We evaluate effect de novo heterozygous,...
To read the full abstract: Genet Med. 2020, Jan; 22: 150-9. doi: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6944638/pdf/41436_2019_Article_606.pdf