Sixteen novel mutations in PNPLA1 in patients with autosomal recessive congenital ichthyosis reveal the importance of an extended patatin domain in PNPLA1 that is essential for proper human skin barrier function

2017 ◽  
Vol 177 (2) ◽  
pp. 445-455 ◽  
Author(s):  
A.D. Zimmer ◽  
G.J. Kim ◽  
A. Hotz ◽  
E. Bourrat ◽  
I. Hausser ◽  
...  
Keyword(s):  
Human Skin ◽  
Barrier Function ◽  
Autosomal Recessive ◽  
Skin Barrier ◽  
Skin Barrier Function ◽  
Novel Mutations ◽  
Congenital Ichthyosis ◽  
Autosomal Recessive Congenital Ichthyosis

scholarly journals 12R-lipoxygenase deficiency disrupts epidermal barrier function

2007 ◽  
Vol 177 (1) ◽  
pp. 173-182 ◽  
Author(s):  
Nikolas Epp ◽  
Gerhard Fürstenberger ◽  
Karsten Müller ◽  
Silvia de Juanes ◽  
Michael Leitges ◽  
...  
Keyword(s):  
Barrier Function ◽  
Lipid Analysis ◽  
Skin Barrier ◽  
Skin Barrier Function ◽  
Epidermal Barrier ◽  
Congenital Ichthyosis ◽  
Function Loss ◽  
Severe Impairment ◽  
Autosomal Recessive Congenital Ichthyosis ◽  
Inactivating Mutations

12R-lipoxygenase (12R-LOX) and the epidermal LOX-3 (eLOX-3) constitute a novel LOX pathway involved in terminal differentiation in skin. This view is supported by recent studies showing that inactivating mutations in 12R-LOX and eLOX-3 are linked to the development of autosomal recessive congenital ichthyosis. We show that 12R-LOX deficiency in mice results in a severe impairment of skin barrier function. Loss of barrier function occurs without alterations in proliferation and stratified organization of the keratinocytes, but is associated with ultrastructural anomalies in the upper granular layer, suggesting perturbance of the assembly/extrusion of lamellar bodies. Cornified envelopes from skin of 12R-LOX–deficient mice show increased fragility. Lipid analysis demonstrates a disordered composition of ceramides, in particular a decrease of ester-bound ceramide species. Moreover, processing of profilaggrin to monomeric filaggrin is impaired. This study indicates that the 12R-LOX–eLOX-3 pathway plays a key role in the process of epidermal barrier acquisition by affecting lipid metabolism, as well as protein processing.

scholarly journals Assessment of Human Skin Gene Expression by Different Blends of Plant Extracts with Implications to Periorbital Skin Aging

2018 ◽  
Vol 19 (11) ◽  
pp. 3349 ◽  
Author(s):  
Jin Namkoong ◽  
Dale Kern ◽  
Helen Knaggs
Keyword(s):  
Oxidative Stress ◽  
Gene Expression ◽  
Human Skin ◽  
Barrier Function ◽  
Skin Barrier ◽  
Skin Aging ◽  
Skin Barrier Function ◽  
Oxidative Stress Biomarkers ◽  
Stress Biomarkers ◽  
And Oxidative Stress

Since the skin is the major protective barrier of the body, it is affected by intrinsic and extrinsic factors. Environmental influences such as ultraviolet (UV) irradiation, pollution or dry/cold air are involved in the generation of radical oxygen species (ROS) and impact skin aging and dermal health. Assessment of human skin gene expression and other biomarkers including epigenetic factors are used to evaluate the biological/molecular activities of key compounds in cosmetic formulas. The objective of this study was to quantify human gene expression when epidermal full-thickness skin equivalents were exposed to: (a) a mixture of betaine, pentylene glycol, Saccharomyces cerevisiae and Rhodiola rosea root extract (BlendE) for antioxidant, skin barrier function and oxidative stress (with hydrogen peroxide challenge); and (b) a mixture of Narcissus tazetta bulb extract and Schisandra chinensis fruit extract (BlendIP) for various biomarkers and microRNA analysis. For BlendE, several antioxidants, protective oxidative stress biomarkers and many skin barrier function parameters were significantly increased. When BlendE was evaluated, the negative impact of the hydrogen peroxide was significantly reduced for the matrix metalloproteinases (MMP 3 and MMP 12), the skin aging and oxidative stress biomarkers, namely FBN2, ANXA1 and HGF. When BlendIP was tested for cell proliferation and dermal structural components to enhance the integrity of the skin around the eyes: 8 growth factors, 7 signaling, 7 structural/barrier function and 7 oxidative stress biomarkers were significantly increased. Finally, when BlendIP was tested via real-time RT-PCR for microRNA expression: miR-146a, miR-22, miR155, miR16 and miR21 were all significantly increased over control levels. Therefore, human skin gene expression studies are important tools to assess active ingredient compounds such as plant extract blends to advance dermal hypotheses toward validating cosmetic formulations with botanical molecules.

scholarly journals The Effect of Ultra Fine Bubbles Water on the Human skin

2021 ◽  
Author(s):  
Yuji Kato ◽  
Tomoyuki Matsumoto ◽  
Setsuko Koura
Keyword(s):  
Stratum Corneum ◽  
Human Skin ◽  
Barrier Function ◽  
Water Clusters ◽  
Skin Barrier ◽  
Skin Barrier Function ◽  
Small Water ◽  
High Affinity ◽  
Normal Water ◽  
Large Clusters

A certain amount of water needs to be maintained in the stratum corneum of the skin in order to maintain the skin barrier function. Therefore, it is important to supply water to the stratum corneum of the skin to reduce trans epidermal water loss (TEWL). However, because normal water has large clusters, it is difficult to penetrate the stratum corneum of the skin. Therefore, it was considered that the use of Ultra-fine bubbles (UFB) water, which is said to have small water clusters, promotes penetration into the stratum corneum of the skin, and is useful for improving the skin barrier function. The artificial skin to which O2-UFB water was dripped had the highest water content and the lowest TEWL. It also had a high affinity for human skin. From these results, improvement of skin barrier function by O2-UFB water can be expected.

scholarly journals Data-based modeling of drug penetration relates human skin barrier function to the interplay of diffusivity and free-energy profiles

2017 ◽  
Vol 114 (14) ◽  
pp. 3631-3636 ◽  
Author(s):  
Robert Schulz ◽  
Kenji Yamamoto ◽  
André Klossek ◽  
Roman Flesch ◽  
Stefan Hönzke ◽  
...  
Keyword(s):  
Free Energy ◽  
Diffusion Equation ◽  
Human Skin ◽  
Barrier Function ◽  
Skin Barrier ◽  
Skin Barrier Function ◽  
Drug Penetration ◽  
Energy Profiles ◽  
Long Time ◽  
Free Energy Profiles

Based on experimental concentration depth profiles of the antiinflammatory drug dexamethasone in human skin, we model the time-dependent drug penetration by the 1D general diffusion equation that accounts for spatial variations in the diffusivity and free energy. For this, we numerically invert the diffusion equation and thereby obtain the diffusivity and the free-energy profiles of the drug as a function of skin depth without further model assumptions. As the only input, drug concentration profiles derived from X-ray microscopy at three consecutive times are used. For dexamethasone, skin barrier function is shown to rely on the combination of a substantially reduced drug diffusivity in the stratum corneum (the outermost epidermal layer), dominant at short times, and a pronounced free-energy barrier at the transition from the epidermis to the dermis underneath, which determines the drug distribution in the long-time limit. Our modeling approach, which is generally applicable to all kinds of barriers and diffusors, allows us to disentangle diffusivity from free-energetic effects. Thereby we can predict short-time drug penetration, where experimental measurements are not feasible, as well as long-time permeation, where ex vivo samples deteriorate, and thus span the entire timescales of biological barrier functioning.

scholarly journals Novel Mutations in ALOX12B in Patients with Autosomal Recessive Congenital Ichthyosis and Evidence for Genetic Heterogeneity on Chromosome 17p13

2007 ◽  
Vol 127 (4) ◽  
pp. 829-834 ◽  
Author(s):  
Fabienne Lesueur ◽  
Bakar Bouadjar ◽  
Caroline Lefèvre ◽  
Florence Jobard ◽  
Stéphanie Audebert ◽  
...  
Keyword(s):  
Genetic Heterogeneity ◽  
Autosomal Recessive ◽  
Novel Mutations ◽  
Congenital Ichthyosis ◽  
Chromosome 17P13 ◽  
Autosomal Recessive Congenital Ichthyosis

scholarly journals Novel mutations in the genesTGM1andALOXE3underlying autosomal recessive congenital ichthyosis

2015 ◽  
Vol 55 (5) ◽  
pp. 524-530 ◽  
Author(s):  
Rahim Ullah ◽  
Muhammad Ansar ◽  
Zaka Ullah Durrani ◽  
Kwanghyuk Lee ◽  
Regie Lyn P. Santos-Cortez ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Novel Mutations ◽  
Congenital Ichthyosis ◽  
Autosomal Recessive Congenital Ichthyosis

Assessment of skin barrier function and biochemical changes of ex vivo human skin in response to physical and chemical barrier disruption

2017 ◽  
Vol 116 ◽  
pp. 138-148 ◽  
Author(s):  
Nadine Döge ◽  
Araks Avetisyan ◽  
Sabrina Hadam ◽  
Eva Katharina Barbosa Pfannes ◽  
Fiorenza Rancan ◽  
...  
Keyword(s):  
Human Skin ◽  
Barrier Function ◽  
Ex Vivo ◽  
Skin Barrier ◽  
Biochemical Changes ◽  
Skin Barrier Function ◽  
Barrier Disruption ◽  
Physical And Chemical

scholarly journals Ultrastructural and Molecular Analysis of Ribose-Induced Glycated Reconstructed Human Skin

2018 ◽  
Vol 19 (11) ◽  
pp. 3521 ◽  
Author(s):  
Roberta Balansin Rigon ◽  
Sabine Kaessmeyer ◽  
Christopher Wolff ◽  
Christian Hausmann ◽  
Nan Zhang ◽  
...  
Keyword(s):  
Electron Microscopy ◽  
Human Skin ◽  
Barrier Function ◽  
Skin Barrier ◽  
Skin Aging ◽  
Skin Barrier Function ◽  
Stratum Granulosum ◽  
End Products ◽  
Cell Layers ◽  
Reconstructed Human Skin

Aging depicts one of the major challenges in pharmacology owing to its complexity and heterogeneity. Thereby, advanced glycated end-products modify extracellular matrix proteins, but the consequences on the skin barrier function remain heavily understudied. Herein, we utilized transmission electron microscopy for the ultrastructural analysis of ribose-induced glycated reconstructed human skin (RHS). Molecular and functional insights substantiated the ultrastructural characterization and proved the relevance of glycated RHS beyond skin aging. In particular, electron microscopy mapped the accumulation and altered spatial orientation of fibrils and filaments in the dermal compartment of glycated RHS. Moreover, the epidermal basement membrane appeared thicker in glycated than in non-glycated RHS, but electron microscopy identified longitudinal clusters of the finest collagen fibrils instead of real thickening. The stratum granulosum contained more cell layers, the morphology of keratohyalin granules decidedly differed, and the stratum corneum lipid order increased in ribose-induced glycated RHS, while the skin barrier function was almost not affected. In conclusion, dermal advanced glycated end-products markedly changed the epidermal morphology, underlining the importance of matrix–cell interactions. The phenotype of ribose-induced glycated RHS emulated aged skin in the dermis, while the two to three times increased thickness of the stratum granulosum resembled poorer cornification.

Effects of microneedle length, density, insertion time and multiple applications on human skin barrier function: Assessments by transepidermal water loss

2010 ◽  
Vol 24 (7) ◽  
pp. 1971-1978 ◽  
Author(s):  
Yasmine A. Gomaa ◽  
Desmond I.J. Morrow ◽  
Martin J. Garland ◽  
Ryan F. Donnelly ◽  
Labiba K. El-Khordagui ◽  
...  
Keyword(s):  
Human Skin ◽  
Water Loss ◽  
Barrier Function ◽  
Skin Barrier ◽  
Transepidermal Water Loss ◽  
Insertion Time ◽  
Skin Barrier Function
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