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Article Synopsis
- Keratosis palmoplantaris striata type I (SPPK-I) is a rare genetic skin condition marked by painful, thickened areas on palms and soles, often due to mutations in the desmoglein-1 gene.
- Patients experience hyperkeratotic plaques and painful fissures, but existing treatments like salicylic vaseline and corticosteroids do not provide effective relief.
- A case study highlights a specific genetic variant linked to SPPK-I, yet the search for effective treatments continues due to the limited options available for this disorder.*
A Role for Aquaporin-5 Variants in Regulation of the Actin Cytoskeleton in Non-Epidermolytic Palmoplantar Keratoderma.
J Invest Dermatol
September 2024
Centre for Cell Biology and Cutaneous Research, Blizard Institute, The Faculty of Medicine and Dentistry, Queen Mary University of London, London, United Kingdom. Electronic address:
A case of Carvajal syndrome presenting with dilated cardiomyopathy.
Cardiol Young
May 2024
Medical Genetics, Marmara University School of Medicine, Istanbul, Turkey.
Article Synopsis
- Carvajal syndrome is a rare genetic condition that affects the heart and skin, caused by a mutation in the desmoplakin gene, leading to symptoms like woolly hair, skin issues, and heart problems.
- A case was presented involving a seven-year-old girl who experienced severe heart failure and dilated cardiomyopathy, alongside notable dermatological symptoms, prompting genetic testing.
- The diagnosis of Carvajal syndrome was confirmed through genetic evaluation, highlighting the importance of recognizing skin manifestations and genetic screening to aid in diagnosis and prevent fatal outcomes.
Key Factors in the Complex and Coordinated Network of Skin Keratinization: Their Significance and Involvement in Common Skin Conditions.
Int J Mol Sci
December 2023
Department of Dermatology and Venereology, General Hospital, 44000 Sisak, Croatia.
Article Synopsis
- The epidermis protects the body and heals injuries through a complex keratinization process that involves the shedding of dead skin cells known as desquamation.
- Keratinocyte differentiation is influenced by several factors including growth factors and changes in vitamin A and calcium levels, which help transform basal cells into fully differentiated corneocytes.
- Skin keratinization disorders can lead to various dermatological diseases, categorized based on specific defects in keratin structure and the regulation of the keratinization process.
Cleavage of the pseudoprotease iRhom2 by the signal peptidase complex reveals an ER-to-nucleus signaling pathway.
Mol Cell
January 2024
Dunn School of Pathology, University of Oxford, South Parks Road, Oxford OX1 3RE, UK. Electronic address:
iRhoms are pseudoprotease members of the rhomboid-like superfamily and are cardinal regulators of inflammatory and growth factor signaling; they function primarily by recognizing transmembrane domains of their clients. Here, we report a mechanistically distinct nuclear function of iRhoms, showing that both human and mouse iRhom2 are non-canonical substrates of signal peptidase complex (SPC), the protease that removes signal peptides from secreted proteins. Cleavage of iRhom2 generates an N-terminal fragment that enters the nucleus and modifies the transcriptome, in part by binding C-terminal binding proteins (CtBPs).
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