Publications by authors named "V Guida"
Article Synopsis
- Darier disease (DD) is an autosomal dominant skin disorder linked to the ATP2A2 gene, primarily affecting keratinocytes, but has shown potential connections to heart issues.
- Recent findings indicate that a specific gene variant may lead to cardiac problems in DD patients, where disconnection of skin cells parallels separation in heart cells, resulting in both skin and heart-related symptoms decades apart.
- Clinical symptoms include skin lesions, chest pain, muscle fatigue, and arrhythmias, with treatment using aminophylline showing promise in alleviating these cardiac symptoms by enhancing specific protein activity.
The c-Jun N-terminal kinase 3 (JNK3) is a stress-responsive protein kinase primarily expressed in the central nervous system (CNS). JNK3 exhibits nuanced neurological activities, such as roles in behavior, circadian rhythms, and neurotransmission, but JNK3 is also implicated in cell death and neurodegeneration. Despite the critical role of JNK3 in neurophysiology and pathology, its localization in the brain is not fully understood due to a paucity of tools to distinguish JNK3 from other isoforms.
View Article and Find Full Text PDFSplit Hand-Foot Malformation (SHFM) is a congenital limb defect characterized by a median cleft of the hands and/or feet due to the absence/hypoplasia of the central rays. It may occur as part of a syndromic condition or as an isolated malformation. The most common of the six genetic loci identified for this condition is correlated to SHFM1 and maps in the 7q21q22 region.
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