Results 41 to 50 of about 50,551 (154)

ABCA12 Frameshift Deletion in Domestic Cats With Ichthyosis Fetalis

Veterinary Dermatology, Volume 37, Issue 3, Page 365-374, June 2026.
ABSTRACT Background Ichthyosis fetalis (IF), also known as harlequin ichthyosis, is a rare and often fatal autosomal recessive congenital skin disorder. It is characterized by thickened, hard skin plaques and deep skin fissures that limit mobility and cause malformations of the eyes, lips and ears.
Jeanna M. Blake, Melissa P. Swan, Kari J. Ekenstedt   +2 more
wiley   +1 more source

Thematic review series: Skin Lipids. Pathogenesis of permeability barrier abnormalities in the ichthyoses: inherited disorders of lipid metabolism

Journal of Lipid Research, 2008
Many of the ichthyoses are associated with inherited disorders of lipid metabolism. These disorders have provided unique models to dissect physiologic processes in normal epidermis and the pathophysiology of more common scaling conditions.
Peter M. Elias, Mary L. Williams, Walter M. Holleran, Yan J. Jiang, Matthias Schmuth   +4 more
doaj   +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  

Case Report: Chanarin-Dorfman Syndrome: A Novel Homozygous Mutation in ABHD5 Gene in a Chinese Case and Genotype-Phenotype Correlation Analysis

Frontiers in Genetics, 2022
The Chanarin–Dorfman syndrome (CDS) is a rare, autosomal recessively inherited genetic disease, whch is associated with a decrease in the lipolysis activity in multiple tissue cells.
Bo Liang, Bo Liang, Bo Liang, Bo Liang, Bo Liang, Bo Liang, He Huang, He Huang, He Huang, He Huang, He Huang, Jiaxiang Zhang, Gang Chen, Gang Chen, Gang Chen, Gang Chen, Gang Chen, Xiangsheng Kong, Mengting Zhu, Peiguang Wang, Peiguang Wang, Peiguang Wang, Peiguang Wang, Peiguang Wang, Lili Tang, Lili Tang, Lili Tang, Lili Tang, Lili Tang   +28 more
doaj   +1 more source

Implementation of an Inherited Diseases Gene Panel to Accelerate Precision Medicine in the South African Public Healthcare System

Molecular Genetics &Genomic Medicine, Volume 14, Issue 4, April 2026.
We developed and implemented a 500‐gene panel for phenotype‐driven genetic testing of Mendelian disorders in South Africa's public healthcare system, achieving a 46% diagnostic yield. This platform supports scalable, cost‐effective rare disease diagnosis and lays the foundation for broader genetic services in resource‐limited settings.
Nadia Carstens, Maria Mudau, Fahmida Essop, Amanda Krause   +3 more
wiley   +1 more source

Stratum Corneum Ceramide Abnormalities in Atopic Dermatitis: Pathophysiology and Implications for Disease Management

The Journal of Dermatology, Volume 53, Issue 3, Page 380-387, March 2026.
ABSTRACT The stratum corneum, as the outermost layer of the skin, functions as a critical barrier that maintains cutaneous hydration and systemic homeostasis. Among its structural lipids, ceramides constitute the most abundant and diverse component. These molecules are essential for the formation of lamellar structures that secure barrier integrity ...
Takashi Sakai
wiley   +1 more source

The Genetics of Atopic Eczema in the Bangladeshi population of East London [PDF]

, 2009
PhDAtopic Eczema (AE) is a common, complex, genetic skin disease. It usually begins in infancy and can affect any part of the body but often occurs in the flexures of the elbows and knees. The cohort used in this study is of Bangladeshi origin and all
Sinclair, Claire
core   +4 more sources

Refractory Trichophyton rubrum infection in Lamellar Ichthyosis

, 2013
A 10-month-old boy with congenital lamellar ichthyosis presented with a chronic Trichophyton rubrum infection. There was no history of atopy or immunosuppression, and examination revealed high total immunoglobulin E (IgE) with a positive specific IgE for
Scheers, Christel, Harag, Saadia, Kolivras, Athanassios, Thompson, Curtis T, André, Josette, Rebuffat, Elisabeth   +5 more
core   +1 more source

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

Mutations of keratinocyte transglutaminase in lamellar ichthyosis

, 1995
Lamellar ichthyosis is a severe congenital skin disorder characterized by generalized large scales and variable redness. Affected individuals in three families exhibited drastically reduced keratinocyte transglutaminase (TGK) activity.
Huber, M., Lavrijsen, S. P., Ponec, M., Bernasconi, K., Lautenschlager, S., Rettler, I., Bon, A., Frenk, E., Hohl, D., Schorderet, D. F.   +9 more
core   +1 more source