Results 51 to 60 of about 3,562 (228)

Prevalence of inherited ichthyosis in France: a study using capture-recapture method [PDF]

, 2014
International audienceBACKGROUND:Inherited ichthyoses represent a group of rare skin disorders characterized by scaling, hyperkeratosis and inconstant erythema, involving most of the tegument. Epidemiology remains poorly described.
Barbarot, Sebastien, Chiaverini, Christine, Chouquet, Cécile, Dreyfus, Isabelle, Dupuis, Jérôme, Ezzedine, Khaled, Henner, Sophie, Mallet, Stephanie, Martin, Ludovic, Maza, Aude, Mazereeuw-Hautier, Juliette, Pascal, Sandrine, Rodriguez, Lauriane, Vabres, Pierre   +13 more
core   +3 more sources

Abnormal Lamellar Granules in Harlequin Ichthyosis

Journal of Investigative Dermatology, 1992
Lamellar granules are specialized lipid-rich organelles present in epidermal granular cells. They fuse with the apical cell surface and discharge their contents into the intercellular space forming lamellar sheets. It was previously shown by electron microscopy that lamellar granules in biopsies of infants affected with harlequin ichthyosis are either ...
Martha E Milner, Martha E Milner, W. Michael O'Guin, W. Michael O'Guin, Beverly A. Dale, Beverly A. Dale, Karen A. Holbrook, Karen A. Holbrook   +7 more
openaire   +3 more sources

Lipid Nanoparticles for Delivery of CRISPR Gene Editing Components

Small Methods, EarlyView.
The review presents a comprehensive overview of each component of lipid nanoparticles（LNPs）and their effects on editing efficiency. It specifically highlights strategies for achieving non‐liver delivery, aiming for broader applications in gene editing. Furthermore, this review summarizes the applications of LNPs in gene editing and offers insights for ...
Fan Wu, Nei Li, Yudian Xiao, Rohan Palanki, Hannah Yamagata, Michael J. Mitchell, Xuexiang Han   +6 more
wiley   +1 more source

Lamellar Ichthyosis: A Rare Mucocutaneous Disease [PDF]

Journal of Krishna Institute of Medical Sciences University, 2019
Lamellar Ichthyosis is a rare genodermatotic condition, which occurs due to the mutation in the transglutaminase-1gene. It is a rare disease with a global prevalence of 1 in 300000 live births with no specific gender predilection.
Yogesh Chhaparwal, Komal Smriti , Saurabh Roy, Shubha Chhaparwal   +3 more
doaj  

Gene-Targeted Next Generation Sequencing Identifies PNPLA1 Mutations in Patients with a Phenotypic Spectrum of Autosomal Recessive Congenital Ichthyosis: The Impact of Consanguinity [PDF]

, 2017
Heritable forms of ichthyoses, also referred to as generalized Mendelian disorders of cornification, are phenotypically a highly heterogeneous group of conditions caused by mutations in a number of genes playing a role in keratinocyte differentiation ...
Abiri, Maryam, Barzegar, Mohammadreza, Fortina, Paolo, Karamzadeh, Razieh, Mansouri, Parvin, Mccormick, Kevin, Mohammadi asl, Javad, Saeidian, Amir Hossein, Sotoudeh, Soheila, Uitto, Jouni, Vahidnezhad, Hassan, Youssefian, Leila, Zeinali, Sirous   +12 more
core   +1 more source

Correlation study of facial lipid profile differences and skin physiological characteristics in Chinese women aged 19–33 years

International Journal of Cosmetic Science, EarlyView.
The facial SC lipid profiles of young Chinese women in the early aging stage exhibited significant changes with age. The average chain length of diacylglycerol, triacylglycerol and short‐chain ceramides decreases with age, while the cholesteryl ester and ceramide EO subclasses increase. Some ceramides correlate positively with TEWL, skin elasticity and
Yumei Fan, Chunhua Wei, Ning Su, Yanyun Ma, Wei Liu, Peiwen Sun, Shuo Shan   +6 more
wiley   +1 more source

Neonatal Skin Disorders: A Review of Selected Dermatologic Abnormalities

, 2000
The skin serves many purposes, acting as a barrier to infection, protecting internal organs, contributing to temperature regulation, storing insulating fats, excreting electrolytes and water, and providing tactile sensory input. This article focuses on a
Banta-Wright, Sandra, Campbell, Juliana
core   +1 more source

The epidthelial sodium channel ENaC and its regulators in the epidermal permeability barrier function [PDF]

, 2010
The highly amiloride-sensitive epithelial sodium channel ENaC is well known to be involved in controlling whole body sodium homeostasis and lung liquid clearance. ENaC expression has also been detected in the skin of amphibians and mammals.
Charles, R-P., Frateschi, S., Hummler, E.   +2 more
core   +1 more source

PEG‐23 glyceryl distearate, a multifunctional skin‐supporting material, upregulates the expression of factors associated with epidermal barrier and hydration

International Journal of Cosmetic Science, EarlyView.
Polyethylene glycol‐23 glyceryl distearate (GDS‐23) forms niosomes and penetrates the skin. Our results suggest that the pharmacological effects following dermal penetration of GDS‐23 may enhance skin homeostasis by improving barrier function and moisture retention.
Tatsuro Miyoshi, Brian C. Keller, Sui Nakagawa, Takashi Ashino, Satoshi Numazawa   +4 more
wiley   +1 more source

Mouse Models of Human Claudin-Associated Disorders: Benefits and Limitations [PDF]

, 2019
In higher organisms, epithelia separate compartments in order to guarantee their proper function. Such structures are able to seal but also to allow substances to pass.
Fernández-Rodríguez, Cármen, Martínez-Cruz, Luis Alfonso, Müller, Dominik, Seker, Murat   +3 more
core   +1 more source