Publications by authors named "Wenlian Hua"
Article Synopsis
- Porokeratosis (PK) is a group of skin disorders related to keratinization, with few identified causal genes; recent research found mutations in four genes linked to the mevalonate pathway, including novel genes PMVK, MVD, and FDPS.*
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- A study on 134 PK patients revealed that 98% of familial and 73% of sporadic cases had mutations in one of the four identified mevalonate pathway genes, indicating its potential role in PK development.*
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- The study also discovered reduced expression of the normal allele in affected tissues and noted correlations between mutations and clinical symptoms, suggesting a possibility for a new genetic classification system for PK.*
