Results 61 to 70 of about 29,876 (307)

Defects in Stratum Corneum Desquamation Are the Predominant Effect of Impaired ABCA12 Function in a Novel Mouse Model of Harlequin Ichthyosis. [PDF]

, 2016
Harlequin Ichthyosis is a severe skin disease caused by mutations in the human gene encoding ABCA12. Here, we characterize a novel mutation in intron 29 of the mouse Abca12 gene that leads to the loss of a 5' splice donor site and truncation of the ...
Chen, J., Crumrine, D.A., Elias, P.M., Feng, W., Ferreyros, M., Hohl, D., Holleran, W.M., Hupe, M., Niswander, L., Roop, D.R., Torchia, E.C., Williams, T., Zhang, L.   +12 more
core   +7 more sources

Burden of itch in ichthyosis: a multicentre study in 94 patients

Journal of the European Academy of Dermatology and Venereology, 2019
From clinical experience, we know that itch is a major concern for many ichthyosis patients. Nonetheless, no previous studies specifically addressed the issue of itch in ichthyosis.
A. M. D. Palma, Juliette Mazereeuw-Hautier, K. Giehl, Á. Hernández-Martín, M. Merlos, P. Moons, Marie Morren, Marie Morren   +7 more
semanticscholar   +1 more source

Expanding the Interface: Overlooked Dermatologic Disorders With Ocular Involvement

JEADV Clinical Practice, EarlyView.
The clinical interface between dermatology and ophthalmology encompasses a range of disorders affecting both the skin and the eye proper. This letter underscores key autoimmune, metabolic, and genetic conditions with significant ocular involvement that were not highlighted in a prior comprehensive review.
A George
wiley   +1 more source

Case report of two brothers with a novel homozygous mutation in ALOX12B leads to autosomal recessive congenital ichthyosis: Which type and which subtype? Two siblings with a novel homozygous mutation in ALOX12B

Dermatologica Sinica, 2019
Ichthyosis is a heterogeneous group of rare genetic skin disorders characterized by furfuraceous and dry skin. The classification of ichthyosis has always been a challenging process as genodermatoses.
Evren Gumus
doaj   +1 more source

Obstetrical aspects in congenital ichtyosis [PDF]

, 2016
We present a case of congenital ichthyosis because obstetrical literature is scarce and most obstetricians could need a reminder and update. Congenital ichthyosis (CI) comprises a variety of skin disorders characterised by abnormal keratinization of the ...
Dehaene, Isabelle, Page, Ann-Sophie, Page, Geert   +2 more
core  

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

Biallelic ELOVL1 Variants Are Linked to Hypomyelinating Leukodystrophy, Movement Disorder, and Ichthyosis

Movement Disorders, EarlyView.
Abstract Background Very long chain fatty acids (VLCFAs) are an integral component of myelin and the epidermal water barrier. Variants in genes encoding enzymes responsible for catalyzing the first and rate limiting step in the production of VLCFAs, elongation of VLCFAs (ELOVLs), underlie a novel group of metabolic disorders. Objectives The goal was to
Keit Men Wong, Reza Maroofian, Kolja Meier, Susann Diegmann, Tinatin Tkemaladze, Javeria Raza Alvi, Behnoosh Tasharrofi, Stephanie Efthymiou, Alexander Munchau, G. Christoph Korenke, Naif Almontashiri, Wafaa Eyaid, Amna Kashgari, Modhi Alotaibi, Jutta Gärtner, Brenda Huppke, Mostafa Asadollahi, Gocha Chikvinidze, Mohammad Keramatipour, Tipu Sultan, Holger Thiele, Peter Nürnberg, Markus H. Gräler, Henry Houlden, Peter Huppke   +24 more
wiley   +1 more source

Oral Manifestation of Autosomal Recessive Congenital Ichthyosis in a 2-Year-Old Patient

Case Reports in Dentistry, 2014
Ichthyosis is a heterogeneous family of hereditary keratinisation disorders mostly characterized by variable erythema of the whole body and different scaling patterns.
Kavitha Ramar, Sankar Annamalai, V. P. Hariharavel, R. Aravindhan, C. Ganesh, K. Ieshwaryah   +5 more
doaj   +1 more source

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

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