Hereditary palmoplantar keratodermas. Part II: syndromic palmoplantar keratodermas–Diagnostic algorithm and principles of therapy

L Guerra, M Castori, B Didona… - Journal of the …, 2018 - Wiley Online Library
Hereditary palmoplantar keratodermas (PPK s) comprise a large and heterogeneous group
of disorders characterized by persistent thickening of the epidermis at palmar and plantar …

[HTML][HTML] Allele-specific genome targeting in the development of precision medicine

J Wu, B Tang, Y Tang - Theranostics, 2020 - ncbi.nlm.nih.gov
The CRISPR-based genome editing holds immense potential to fix disease-causing
mutations, however, must also handle substantial natural genetic variations between …

Treatment of hereditary palmoplantar keratoderma: a review by analysis of the literature

C Bodemer, P Steijlen… - British Journal of …, 2021 - academic.oup.com
Background No specific or curative therapy exists for hereditary palmoplantar keratoderma
(hPPK), which can profoundly alter patient quality of life, leading sometimes to severe …

Variants in KLK11, affecting signal peptide cleavage of kallikrein-related peptidase 11, cause an autosomal-dominant cornification disorder

Z Gong, S Dai, X Jiang, M Lee, X Zhu… - British Journal of …, 2023 - academic.oup.com
Background Mendelian disorders of cornification (MeDOC) are a group of heterogeneous
genodermatoses with different genetic bases. The pathogenesis of a substantial group of …

Proteomic profiling reveals KRT6C as a probable hereterodimer partner for KRT9: New insights into re-classifying epidermolytic palmoplantar keratoderma (EPPK) …

P Li, J Qi, Y Zhong, A Ding, H Xiao - Journal of Proteomics, 2023 - Elsevier
Epidermolytic palmoplantar keratoderma (EPPK), a highly penetrant autosomal dominant
genodermatosis, is characterized by diffuse keratoses on palmplantar epidermis. The keratin …

CRISPR/Cas9-mediated treatment ameliorates the phenotype of the epidermolytic palmoplantar keratoderma-like mouse

XR Luan, XL Chen, YX Tang, JY Zhang, X Gao… - … Therapy-Nucleic Acids, 2018 - cell.com
CRISPR/Cas9 has been confirmed as a distinctly efficient, simple-to-configure, highly
specific genome-editing tool that has been used to treat monogenetic disorders …

ASPsiRNA: a resource of ASP-siRNAs having therapeutic potential for human genetic disorders and algorithm for prediction of their inhibitory efficacy

I Monga, A Qureshi, N Thakur… - G3: Genes, Genomes …, 2017 - academic.oup.com
Allele-specific siRNAs (ASP-siRNAs) have emerged as promising therapeutic molecules
owing to their selectivity to inhibit the mutant allele or associated single-nucleotide …

Expression profiles of circular RNAs in spermatozoa from aging men

Q Zhou, A Liu, H Ji, J Ji, J Sun, Z Ling, G Li… - Molecular Biology …, 2023 - Springer
Background Advanced paternal age (APA) is associated with decreased fertility, but the
mechanism underlying APA remains unknown. CircRNAs have been reported to be ideal …

[HTML][HTML] Non-viral gene therapy using RNA interference with PDGFR-α mediated epithelial-mesenchymal transformation for proliferative vitreoretinopathy

J Wang, P Zhao, Z Chen, H Wang, Y Wang, Q Lin - Materials Today Bio, 2023 - Elsevier
Fibrotic eye diseases, a series of severe oculopathy, that will destroy normal ocular
refractive media and imaging structures. It is characterized by the transformation of the …

[HTML][HTML] Identification of a novel keratin 9 missense mutation in a Chinese family with epidermolytic palmoplantar keratoderma

H Xiao, Y Guo, J Yi, H Xia, H Xu, L Yuan, P Hu… - Cellular Physiology and …, 2018 - karger.com
Background/Aims: Epidermolytic palmoplantar keratoderma (EPPK) is an autosomal
dominant genodermatosis. It is characterized by diffuse yellow keratoses on the …