Results 41 to 50 of about 50,601 (205)

Acid ceramidase overactivity drives ceramide loss, leading to atopic dry skin and Th2‐skewed immune polarization

The Journal of Pathology, Volume 269, Issue 2, Page 232-247, June 2026.
Abstract Ceramide deficiency in the stratum corneum (SC) is a key etiological factor in atopic dermatitis (AD). To clarify the direct role of SC ceramide depletion in impairing SC barrier and water‐holding functions and in initiating AD‐like skin symptoms and disease‐specific molecular alterations, we generated Tg mice overexpressing a mutant form of ...
Mariko Takada, Miho Sashikawa‐Kimura, Yusuke Ohno, Md Razib Hossain, Xiaonan Xie, Kazuhisa Iwabuchi, Mayumi Komine, Mamitaro Ohtsuki, Genji Imokawa   +8 more
wiley   +1 more source

Evaluation of interface quality in organ-cultured lamellar corneal transplants [PDF]

, 2012
Background: With increasing numbers of lamellar keratoplasties, eye banks are challenged to deliver precut lamellar donor tissue. In Europe, the most common technique of corneal storage is organ culture which requires a deswelling process before surgical
Kohnen, Thomas, Wolf, Armin, Kook, Daniel, Grüterich, Martin, Jagow, Burkhard von, Kampik, Anselm, Lackerbauer, Carlo A., Messmer, Elisabeth M.   +7 more
core   +1 more source

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

Novel mutations of the transglutaminase 1 gene in lamellar ichthyosis [PDF]

, 2001
Lamellar ichthyosis, one form of congenital autosomal recessive ichthyosis, is caused by mutations in the gene (TGM1) encoding the transglutaminase 1 enzyme. Mutations, deletions, or insertion of TGM1 have been reported so far.
Yang, JM, Cho, Mi-Ook, Lee, Joo-Heung, Melino, G, Ahn, Kwang-Sung, Steinert, Peter M., Yang, Jun-Mo, Lee, JH, Cho, MO, Ahvazi, B, MELINO, GENNARO, Ahn, KS, Yoneda, K, Candi, E, Lee, Eil-Soo, Lee, CH, Steinert, PM, Lee, Cha-Hui, Candi, Eleonora, Lee, ES, Melino, Gerry, Ahvazi, Bijan, Yoneda, Kozo   +22 more
core   +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