Associated Papers
Germline and somatic second-hit changes in porokeratosis: comprehensive variant spectrum and genotype-phenotype correlation analysis.
Yang Y et al.
The British Journal of Dermatology, 2026
Identification of two novel MVD mutations and one novel FDPS mutation in Chinese patients with porokeratosis.
He Y et al.
Frontiers in Medicine, 2026
Establishment of a Mouse Model for Porokeratosis Due to Mevalonate Diphosphate Decarboxylase Deficiency.
Peng K et al.
Skin Research and Technology : Official Journal of International Society for Bioengineering and the Skin (isbs) [and] International Society for Digital Imaging of Skin (isdis) [and] International Society for Skin Imaging (issi), 2024
Two Novel and Three Recurrent Mutations in the Mevalonate Pathway Genes in Chinese Patients with Porokeratosis.
Wang X et al.
Clinical, Cosmetic and Investigational Dermatology, 2024
MVD Variants Identified in a Rare Clinical Variant of Porokeratosis: A Case Report of Disseminated Superficial Porokeratosis (DSP) in a Chinese Patient.
Yu T et al.
Clinical, Cosmetic and Investigational Dermatology, 2024
Decreased Imiquimod-Induced Psoriasis-Like Skin Inflammation in a Novel MvdF250S/+ Knock-In Mouse Model.
La Y et al.
Inflammation, 2023
Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.
Cong PK et al.
Nature Communications, 2022
A preliminary study of peripheral T-cell subsets in porokeratosis patients with MVK or MVD variants.
Tao L et al.
Skin Health and Disease, 2022
Mevalonate Kinase-Associated Diseases: Hunting for Phenotype-Genotype Correlation.
Boursier G et al.
Journal of Clinical Medicine, 2021
Two Cases of Porokeratosis with MVD Mutations, in Association with Bullous Pemphigoid.
Arisawa Y et al.
Acta Dermato-venereologica, 2021
Twenty-two novel mutations in a Chinese cohort of 137 patients with porokeratosis were identified using microfluidics (Fluidigm).
Shi W et al.
Journal of Dermatological Science, 2021
Mutations in mevalonate pathway genes in patients with familial or sporadic porokeratosis.
Leng Y et al.
The Journal of Dermatology, 2018
Disseminated Porokeratosis with Idiopathic Thrombocytopenia - Case Report and Literature Review of Porokeratosis and Related Disorders.
Chokoeva AA et al.
Open Access Macedonian Journal of Medical Sciences, 2018
[Analysis of clinical and genetic features of nine patients with disseminated superfacial actinic porokeratosis].
Li X et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2017
Mutations in the mevalonate pathway genes in Chinese patients with porokeratosis.
Li M et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2016
Genomic variations of the mevalonate pathway in porokeratosis.
Zhang Z et al.
Elife, 2015
Mutation Analysis of the MVD Gene in a Chinese Family with Disseminated Superficial Actinic Porokeratosis and a Chinese Literature Review.
Qian W et al.
Indian Journal of Dermatology, 0