Results 51 to 60 of about 5,713 (219)

Functional and proteomic analysis of a full thickness filaggrin-deficient skin organoid model [PDF]

, 2019
Background: Atopic eczema is an itchy inflammatory disorder characterised by skin barrier dysfunction. Loss-of-function mutations in the gene encoding filaggrin (FLG) are a major risk factor, but the mechanisms by which filaggrin haploinsufficiency leads
A Fabregat, A Naeem, A Sandilands, A Sandilands, B Kim, C Cole, C Cole, C Finan, C Flohr, C Hausmann, C He, C Lefèvre, C Palmer, D Szklarczyk, D Tobin, E Hoste, E Leclerc, E Rodriguez, E van den Bogaard, F Smith, G Denecker, G McIlroy, H Alexander, H Baurecht, H Han, H Niehues, J Bergboer, J Folch, J Rheinwald, J Silverberg, J Timmerman, K Purdie, K Vávrová, L Paternoster, M Elias, M Elias, M Ferreira, M Kamsteeg, M Kretz, M Visser, N Markova, N Novak, P Arkwright, P Di Meglio, P Gao, R Gruber, R Gruber, R Mateu, S Brown, S Brown, S Brown, S Brown, S Brown, S Brown, S Brown, S Brown, S Brown, S Johansson, S Smith, S Weidinger, T Elango, T Gil, T Matsui, V Rothhammer, V van Drongelen, W Damsky, W Nirunsuksiri, Y Dou, Y Lee, Y Perez-Riverol, Z Xie, Z Zhu   +71 more
core   +3 more sources

Unknown mutations and genotype/phenotype correlations of autosomal recessive congenital ichthyosis in patients from Saudi Arabia and Pakistan [PDF]

, 2019
Background Autosomal recessive congenital ichthyosis (ARCI) is a genetically and phenotypically heterogeneous skin disease, associated with defects in the skin permeability barrier. Several but not all genes with underlying mutations have been identified,
Ahmad, Jamil, Alabdulkareem, Adnan S., Alakloby, Omar Mohammed, Alawbathani, Salem, Alnutaifi, Kholood Abdulaziz, Altmüller, Janine, Borck, Guntram, Cunha, Dulce Lima, Eckl, Katja, Gruber, Robert, Hennies, Hans Christian, Kakar, Naseebullah, Krabichler, Birgit, Nurnberg, Peter, Plank, Roswitha, Schmuth, Matthias, Zschocke, Johannes   +16 more
core   +4 more sources

Lipid Nanoparticles for Delivery of CRISPR Gene Editing Components

Small Methods, Volume 10, Issue 2, 22 January 2026.
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

The importance of the lipoxygenase-hepoxilin pathway in the mammalian epidermal barrier [PDF]

, 2014
This review covers the background to discovery of the two key lipoxygenases (LOX) involved in epidermal barrier function, 12R-LOX and eLOX3, and our current views on their functioning.
Brash, Alan R., Keeney, Diane S., Muñoz-Garcia, Agustí, Thomas, Christopher P., Zheng, Yuxiang   +4 more
core   +1 more source

Review of Biological Agents in the Therapeutic Management of Monogenic Genodermatoses

Dermatologic Therapy, Volume 2026, Issue 1, 2026.
Monogenic genodermatoses encompass a diverse group of over 400 distinct disorders, presenting significant therapeutic challenges. Recent advancements in the clinical application of biological agents have heralded a new era in the management of these conditions.
Xueying Wang, Qing Zhao, Hong Liu, Furen Zhang, Zhiqiang Song   +4 more
wiley   +1 more source

Two- and three-dimensional sonographic findings of harlequin ichthyosis: case report and literature review

Anais Brasileiros de Dermatologia, 2023
Background Harlequin ichthyosis (HI) is a rare skin disorder with extremely high lethality due to a mutation of the ABCA12 gene. Because of its rarity and the often-late onset, prenatal screening for HI is extremely difficult, and most pregnant women ...
Zesi Liu, Chunli Jing
doaj   +1 more source

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   +4 more sources

Clinico-epidemiological study of congenital ichthyosis in a tertiary care center of Eastern India

Indian Journal of Dermatology, 2017
Background: Congenital ichthyoses comprises various specific genetic diseases and can range from mild to very severe presentation. Furthermore, these may be associated with various syndromes.
Arghyaprasun Ghosh, Rahul Ahar, Gobinda Chatterjee, Neha Sharma, Shruti Alhad Jadhav   +4 more
doaj   +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

The Impact of Age on the Lipidomic Profile of the Stratum Corneum and Associated Effects on Structure, Function and Overall Skin Health in Adults Predisposed to Atopic Dermatitis

Experimental Dermatology, Volume 34, Issue 12, December 2025.
Advancing age in eczema‐prone adults correlates with increased dryness, reduced hydration and altered lipid profiles. Spectroscopy showed declines in lipids, water, esters and carboxylates. Lipidomics revealed rising ceramide species, shorter acyl chains and TAG associations.
S. F. Williams, P. Andrew, K. Brown, J. Chittock, A. Pinnock, A. Poyner, M. J. Cork, S. G. Danby   +7 more
wiley   +1 more source