Publications by authors named "O Elomaa"
Article Synopsis
- Hereditary palmoplantar keratodermas (hPPKs) are skin disorders marked by thickening of the skin on palms and soles, linked to genetic mutations in protease inhibitors SERPINA12 and SERPINB7.
- The study utilized whole-exome sequencing to investigate the genetic basis and clinical features of these conditions, identifying a new SERPINA12 variant in European patients.
- Findings suggest that patients with mutations in both genes exhibit similar symptoms, making genetic testing essential for accurate diagnosis since the conditions cannot be differentiated based solely on clinical presentation.
A novel desmoplakin mutation causes dilated cardiomyopathy with palmoplantar keratoderma as an early clinical sign.
J Eur Acad Dermatol Venereol
August 2022
Background: PPKs represent a heterogeneous group of disorders with hyperkeratosis of palmar and/or plantar skin. PPK, hair shaft abnormalities, cardiomyopathy and arrhythmias can be caused by mutations in desmosomal genes, e.g.
View Article and Find Full Text PDFEpitranscriptomic modifications in RNA can dramatically alter the way our genetic code is deciphered. Cells utilize these modifications not only to maintain physiological processes, but also to respond to extracellular cues and various stressors. Most often, adenosine residues in RNA are targeted, and result in modifications including methylation and deamination.
View Article and Find Full Text PDFHereditary palmoplantar keratoderma - phenotypes and mutations in 64 patients.
J Eur Acad Dermatol Venereol
September 2021
Background: Hereditary palmoplantar keratodermas (PPK) represent a heterogeneous group of rare skin disorders with epidermal hyperkeratosis of the palms and soles, with occasional additional manifestations in other tissues. Mutations in at least 69 genes have been implicated in PPK, but further novel candidate genes and mutations are still to be found.
Objectives: To identify mutations underlying PPK in a cohort of 64 patients.