Associated Papers
Clinical and genetic findings in 13 Chinese children with keratinopathic ichthyosis.
Yang Z et al.
Pediatric Investigation, 2023
37736367 (PubMed )
Supplement: PED4-7-168-s001.pdf
Arginine- but not alanine-rich carboxy-termini trigger nuclear translocation of mutant keratin 10 in ichthyosis with confetti.
Renz P et al.
Journal of Cellular and Molecular Medicine, 2019
Mutational analysis of epidermal and hyperproliferative type I keratins in mild and moderate psoriasis vulgaris patients: a possible role in the pathogenesis of psoriasis along with disease severity.
Elango T et al.
Human Genomics, 2018
Chromosomal inversions as a hidden disease-modifying factor for somatic recombination phenotypes.
Nomura T et al.
Jci Insight, 2018
Coexistence of mutations in keratin 10 (KRT10) and the mitochondrial genome in a patient with ichthyosis with confetti and Leber's hereditary optic neuropathy.
Kalinska-Bienias A et al.
American Journal of Medical Genetics. Part A, 2017
Predictive phenotyping of inherited ichthyosis by next-generation DNA sequencing.
Saito R et al.
The British Journal of Dermatology, 2017
Ichthyosis with confetti: clinics, molecular genetics and management.
Guerra L et al.
Orphanet Journal of Rare Diseases, 2015
Select a paper to view details