A5047807084- Skin and Cellular Biology Research
- Plant Reproductive Biology
- Dermatology and Skin Diseases
- Autoimmune Bullous Skin Diseases
- Dermatological and Skeletal Disorders
- Hair Growth and Disorders
- Wnt/β-catenin signaling in development and cancer
- Nail Diseases and Treatments
- Polysaccharides and Plant Cell Walls
- RNA regulation and disease
- Lipid metabolism and biosynthesis
- Cell Adhesion Molecules Research
- Cellular Mechanics and Interactions
- Glycosylation and Glycoproteins Research
- Contact Dermatitis and Allergies
- Ocular Surface and Contact Lens
- Cutaneous lymphoproliferative disorders research
- Cellular transport and secretion
- Genetic and rare skin diseases.
- Chronic Lymphocytic Leukemia Research
- dental development and anomalies
- Allergic Rhinitis and Sensitization
- Lipid Membrane Structure and Behavior
- PI3K/AKT/mTOR signaling in cancer
- Skin Protection and Aging
Inserm
2015-2025
Université de Toulouse
2010-2025
Université Toulouse III - Paul Sabatier
2010-2024
Centre National de la Recherche Scientifique
2010-2024
Hôpital Purpan
2015-2024
Centre Hospitalier Universitaire de Toulouse
2011-2021
Infinity (United States)
2021
Hôpital Larrey
2019
Abstract Background During epidermal differentiation, keratinocytes progressing through the suprabasal layers undergo complex and tightly regulated biochemical modifications leading to cornification desquamation. The last living cells, granular (GKs), produce almost all of proteins lipids required for protective barrier function before their programmed cell death gives rise corneocytes. We present here first analysis transcriptome human GKs, purified from healthy epidermis by an original...
These guidelines for the management of congenital ichthyoses have been developed by a multidisciplinary group European experts following systematic review current literature, an expert conference held in Toulouse 2016, and consensus on discussions. summarize evidence expert-based recommendations intend to help clinicians with these rare often complex diseases. comprise two sections. This is part two, covering complications particularities some forms ichthyosis.
These guidelines for the management of congenital ichthyoses have been developed by a multidisciplinary group European experts following systematic review current literature, an expert conference held in Toulouse 2016 and consensus on discussions. They summarize evidence expert-based recommendations are intended to help clinicians with these rare often complex diseases. comprise two sections. This is part one, covering topical therapies, systemic psychosocial management, communicating...
Corneodesmosin is a putative adhesion glycoprotein located in the extracellular part of desmosomes upper layers epidermis. Synthesized by granular keratinocytes as 52–56-kDa protein, corneodesmosin progressively proteolysed during corneocyte maturation. This processing prerequisite for desquamation. Two glycine- and serine-rich domains protein might take on conformation adhesive secondary structures similar to glycine loops.Corneodesmosin proteolysis was further characterized....
Corneodesmosomes, the modified desmosomes of uppermost layers epidermis, play an important role in corneocyte cohesion. Corneodesmosin is a secreted glycoprotein located corneodesmosomal core and covalently linked to cornified envelope corneocytes. Its glycine- serine-rich NH2-terminal domain may fold give structural motifs similar glycine loops described epidermal cytokeratins loricrin proposed display adhesive properties. A chimeric protein comprising human corneodesmosin transmembrane...
Corneodesmosin (CDSN) is specific to desmosomes of epithelia undergoing cornification, mainly the epidermis and inner root sheath hair follicles. CDSN nonsense mutations are associated with hypotrichosis simplex scalp, a rare disease that leads complete baldness in young adults. displays adhesive properties, mostly attributable its N-terminal glycine-rich domain, sequentially proteolyzed as corneocytes migrate towards skin surface. K14-promoter driven Cre-mediated deletion Cdsn mice resulted...
Twenty-six families with keratinopathic ichthyoses (epidermolytic ichthyosis, superficial epidermolytic ichthyosis or congenital reticular ichthyosiform erythroderma) were studied. Epidermolytic is caused by mutations in the genes KRT1 KRT10, gene KRT2 lead to and erythroderma frameshift KRT10 KRT1, which phenomenon of revertant mosaicism. In this study found including 8 that are novel pathogenic variants. We report here first case a patient carrying mutation does not an arginine-rich...
In the course of a large scale analysis late-expressed genes in human epidermis, we identified new member alpha(2)-macroglobulin (alpha2M) protease inhibitor family, A2ML1 (for alpha(2)-macroglobulin-like 1). Like A2M and PZP, is located on chromosome 12p13.31. encodes protein 1454 amino acids, which fits characteristics alpha2Ms: 1) strong conservation acid sequence including most cysteine positions with alpha2M; 2) putative central bait domain; 3) typical thiol ester sequence. Northern...
Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of monogenic genodermatoses that encompasses non-syndromic disorders keratinization. The pathophysiology ARCI has been linked to disturbance in epidermal lipid metabolism impaired the stratum corneum function, leading permeability barrier defects. Functional characterization some genes involved contributed identification molecular actors synthesis, transport or processing. Recently, PNPLA1 identified as gene causing...
In 2019, a group of experts published the first European guidelines for management congenital ichthyoses after multidisciplinary expert meeting held in 2016. An update these and literature search was planned every 5 years, given clinical, molecular therapeutic advances, including use biologic therapies. We present here updated that have been developed by reorganized international systematic review recent literature, discussions, consensus reached at an conference June 2023. The provide...
In 2019, a group of experts published the first European guidelines for management congenital ichthyoses after multidisciplinary expert meeting held in 2016. An update these and literature search was planned every 5 years, given clinical, molecular therapeutic advances, including use biologic therapies. We present here updated that have been developed by reorganized international systematic review recent literature, discussions, consensus reached at an conference June 2023. The provide...
Desquamation occurs after proteolysis of corneodesmosomal proteins, including corneodesmosin (CDSN), by proteases the kallikrein family, particularly KLK7. Impaired desquamation is one features psoriasis, and psoriasis-associated single nucleotide polymorphisms CDSN gene may potentially modify encoded protein.To test whether other components altered in psoriatic epidermis.Total protein extracts obtained tape-stripping nonlesional lesional skin from 11 patients were compared immunoblotting...
Peeling skin disease (PSD), a generalized inflammatory form of peeling syndrome, is caused by autosomal recessive nonsense mutations in the corneodesmosin gene (CDSN).To investigate novel mutation CDSN.A 50-year-old white woman showed widespread with erythema and elevated serum IgE. DNA sequencing, immunohistochemistry, Western blot real-time polymerase chain reaction analyses biopsies were performed order to study genetics characterize molecular profile disease.Histology hyperkeratosis...
Expression of the human Dermokine gene (DMKN) leads to production four isoform families. The secreted α, β and γ isoforms share epidermis-restricted expression pattern, with Dmkn β/γ being specifically expressed by granular keratinocytes. δ are intracellular ubiquitous. Our in-depth characterization in mouse skin revealed it was less complex than Human. In particular, messengers coding for family were absent. Homozygous Dmkn(β/γ)−/− mice showed no obvious phenotype but only a temporary scaly...
The multifunctional receptor LRP1 has been shown to bind and internalize a large number of protein ligands with biological importance such as the pan-protease inhibitor alpha2-macroglobulin (alpha2M). We recently identified Alpha2ML1, new member alpha2M gene family, expressed in epidermis. alpha2ML1 might contribute regulation desquamation through its inhibitory activity towards proteases chymotrypsin notably KLK7. expression epidermis well ability was investigated.In human epidermis, is...
Abstract: At the latest stage of terminal differentiation in epidermis, granular keratinocytes (GKs) undergo cornification, a programmed cell death required for establishment functional skin barrier. A complex genetic regulatory network orchestrates underlying biochemical modifications, but very few transcription factors specific to this programme have been identified date. Here, we describe large‐scale, multi‐technique approach performed on cells purified from normal human primarily...